1 00:00:05,920 --> 00:00:06,440 >> HELLO, EVERYONE. 2 00:00:06,440 --> 00:00:07,760 WELCOME TO TODAY'S EVENT WHICH 3 00:00:07,760 --> 00:00:10,360 IS JOINTLY HOSTED BY THE WHITE 4 00:00:10,360 --> 00:00:12,080 HOUSE OFFICE OF SCIENCE AND 5 00:00:12,080 --> 00:00:15,800 TECHNOLOGY POLICY AND THE EUNICE 6 00:00:15,800 --> 00:00:16,920 KENNEDY SHRIVER INSTITUTE OF 7 00:00:16,920 --> 00:00:18,000 CHILD HEALTH AND HUMAN 8 00:00:18,000 --> 00:00:18,320 DEVELOPMENT. 9 00:00:18,320 --> 00:00:22,400 MY NAME IS MAX BRON BRONSTEIN AND ONE 10 00:00:22,400 --> 00:00:24,040 OF THE ORGANIZERS OF TODAY'S 11 00:00:24,040 --> 00:00:25,040 EVENT. 12 00:00:25,040 --> 00:00:26,920 TODAY WE'LL BE TALKING ABOUT 13 00:00:26,920 --> 00:00:29,600 CLINICAL GENOMICS: ENDING 14 00:00:29,600 --> 00:00:31,040 DIAGNOSTIC ODYSSEYS AND 15 00:00:31,040 --> 00:00:32,560 ENHANCING EQUITY IN PATIENT 16 00:00:32,560 --> 00:00:35,480 CARE. 17 00:00:35,480 --> 00:00:36,640 SO WE'LL BE KICKING OFF WITH 18 00:00:36,640 --> 00:00:39,720 SOME OPENING REMARKS FROM TWO 19 00:00:39,720 --> 00:00:40,000 SPEAKERS. 20 00:00:40,000 --> 00:00:41,520 FOLLOWED BY OUR FIRST PANEL ON 21 00:00:41,520 --> 00:00:42,640 ADVANCING DIAGNOSIS AND 22 00:00:42,640 --> 00:00:43,920 IMPROVING CLINICAL CARE. 23 00:00:43,920 --> 00:00:46,480 NEXT WE HAVE A KEYNOTE FROM OUR 24 00:00:46,480 --> 00:00:49,560 CMS SPEAKER SETTING THE STAGE 25 00:00:49,560 --> 00:00:50,880 FOR OUR SECOND PANEL ABOUT STATE 26 00:00:50,880 --> 00:00:52,240 MODELS FOR ADVANCING COVERAGE 27 00:00:52,240 --> 00:00:53,640 AND ACCESS WHICH WILL FEATURE 28 00:00:53,640 --> 00:00:54,720 THE STATE OF MICHIGAN. 29 00:00:54,720 --> 00:00:56,920 I ALSO HAVE TO TAKE A MOMENT TO 30 00:00:56,920 --> 00:00:58,760 THANK AND ACKNOWLEDGE THOSE 31 00:00:58,760 --> 00:01:00,320 PARTICIPANTS WHO SUBMITTED 32 00:01:00,320 --> 00:01:00,920 QUESTIONS. 33 00:01:00,920 --> 00:01:02,520 WE ACTUALLY RECEIVED WELL OVER A 34 00:01:02,520 --> 00:01:04,480 HUNDRED OF THEM AND OUR 35 00:01:04,480 --> 00:01:05,720 MODERATORS WILL ADDRESS AS MANY 36 00:01:05,720 --> 00:01:07,960 AS WE CAN IN THE TIME ALLOTTED 37 00:01:07,960 --> 00:01:08,800 TODAY. 38 00:01:08,800 --> 00:01:10,520 WITH THAT, LET ME TURN IT OVER 39 00:01:10,520 --> 00:01:13,120 TO OUR FIRST SPEAKER, DR. DIANA 40 00:01:13,120 --> 00:01:15,040 BIANCHI, THE DIRECTOR OF NICHD. 41 00:01:15,040 --> 00:01:17,880 OVER TO YOU, DR. BIANCHI. 42 00:01:17,880 --> 00:01:18,640 >> THANK YOU, MAX. 43 00:01:18,640 --> 00:01:20,920 GOOD AFTERNOON, EVERYONE. 44 00:01:20,920 --> 00:01:22,320 WELCOME TO TODAY'S WEBINAR. 45 00:01:22,320 --> 00:01:25,520 AS MAX SAID, I'M DR. DIANA 46 00:01:25,520 --> 00:01:26,880 BIANCHI, THE DIRECTOR OF THE 47 00:01:26,880 --> 00:01:28,920 EUNICE KENNEDY SHRIVER NATIONAL 48 00:01:28,920 --> 00:01:30,600 INSTITUTE OF CHILD HEALTH AND 49 00:01:30,600 --> 00:01:31,680 HUMAN DEVELOPMENT. 50 00:01:31,680 --> 00:01:32,920 IT'S A MOUTHFUL. 51 00:01:32,920 --> 00:01:36,120 SO I'M GOING TO REFER TO IT AS 52 00:01:36,120 --> 00:01:37,440 NICHD, AT THE NATIONAL 53 00:01:37,440 --> 00:01:39,720 INSTITUTES OF HEALTH. 54 00:01:39,720 --> 00:01:41,960 I'M ALSO A MEDICAL GENETICIST 55 00:01:41,960 --> 00:01:44,800 AND A NEONATOLOGIST. 56 00:01:44,800 --> 00:01:46,320 WITHIN NIH, NICHD SUPPORTS 57 00:01:46,320 --> 00:01:49,840 RESEARCH ON THE DEVELOPMENT AND 58 00:01:49,840 --> 00:01:50,880 IMPLEMENTATION OF NEW AND 59 00:01:50,880 --> 00:01:54,240 EXISTING SCREENING TESTS FOR THE 60 00:01:54,240 --> 00:01:56,120 PRE-PREGNANCY, PRENATAL, NEWBORN 61 00:01:56,120 --> 00:01:59,720 AND EARLY CHILDHOOD PERIODS. 62 00:01:59,720 --> 00:02:01,560 WE ALSO SUPPORT RESEARCH THAT 63 00:02:01,560 --> 00:02:02,880 EVALUATES THE EFFICIENCY AND 64 00:02:02,880 --> 00:02:04,120 EFFECTIVENESS OF TRANSLATING 65 00:02:04,120 --> 00:02:05,840 THESE TOOLS INTO CLINICAL CARE, 66 00:02:05,840 --> 00:02:08,360 AND THE PUBLIC HEALTH SETTING. 67 00:02:08,360 --> 00:02:10,400 IN PARTNERSHIP WITH OUR 68 00:02:10,400 --> 00:02:12,600 COLLEAGUES AT NHGRI, WE 69 00:02:12,600 --> 00:02:14,960 SUPPORTED THE NEWBORN SEQUENCING 70 00:02:14,960 --> 00:02:16,360 IN GENOMIC MEDICINE AND PUBLIC 71 00:02:16,360 --> 00:02:21,640 HEALTH INITIATIVE, OR NSITE. 72 00:02:21,640 --> 00:02:24,720 TWO OF THESE PROJECTS LOOKED AT 73 00:02:24,720 --> 00:02:26,240 CLINICAL GENOMIC SEQUENCING IN 74 00:02:26,240 --> 00:02:27,640 THE INTENSIVE CARE SETTING. 75 00:02:27,640 --> 00:02:29,160 IMPORTANTLY, THESE PROJECTS 76 00:02:29,160 --> 00:02:31,920 DEMONSTRATED THE UTILITY AND THE 77 00:02:31,920 --> 00:02:33,600 COST-EFFECTIVENESS OF SEQUENCING 78 00:02:33,600 --> 00:02:36,120 IN THIS SETTING FOR THE 79 00:02:36,120 --> 00:02:36,720 DIAGNOSIS, TREATMENT AND 80 00:02:36,720 --> 00:02:38,000 MANAGEMENT OF THESE CRITICALLY 81 00:02:38,000 --> 00:02:40,720 ILL BABIES. 82 00:02:40,720 --> 00:02:41,720 IN FACT, ONE OF THESE PROJECTS 83 00:02:41,720 --> 00:02:45,000 LAID THE FOUNDATION FOR 84 00:02:45,000 --> 00:02:46,320 SUBSEQUENT EFFORTS TO PROMOTE 85 00:02:46,320 --> 00:02:49,920 NEWBORN SEQUENCING THROUGH A 86 00:02:49,920 --> 00:02:50,680 STATE-BASED MEDICAID COVERAGE 87 00:02:50,680 --> 00:02:51,480 PROGRAM, AND YOU'LL HEAR ABOUT 88 00:02:51,480 --> 00:02:54,480 THAT LATER TODAY. 89 00:02:54,480 --> 00:02:55,840 WE KNOW THAT FOR MANY FAMILIES, 90 00:02:55,840 --> 00:02:57,480 THE JOURNEY TO REACH A DIAGNOSIS 91 00:02:57,480 --> 00:03:00,520 CAN TAKE YEARS, AND BE FRAUGHT 92 00:03:00,520 --> 00:03:02,280 WITH CHALLENGES AND OBSTACLES 93 00:03:02,280 --> 00:03:04,800 ALONG THE WAY, INCLUDING THE 94 00:03:04,800 --> 00:03:06,880 LACK OF A DIAGNOSIS OR 95 00:03:06,880 --> 00:03:08,720 MISDIAGNOSIS, OR A LACK OF 96 00:03:08,720 --> 00:03:10,680 INSURANCE COVERAGE FOR 97 00:03:10,680 --> 00:03:12,120 DIAGNOSTIC TESTS THAT HAVE BEEN 98 00:03:12,120 --> 00:03:13,880 PURSUED ALONG THE WAY. 99 00:03:13,880 --> 00:03:15,920 ONE OF THE PROGRAMS SUPPORTED 100 00:03:15,920 --> 00:03:18,000 THROUGH THE NIH COMMON FUND HAS 101 00:03:18,000 --> 00:03:20,960 BEEN THE UNDIAGNOSED DISEASES 102 00:03:20,960 --> 00:03:23,240 PROGRAM AND NETWORK. 103 00:03:23,240 --> 00:03:25,080 THROUGH THIS NIH-WIDE 104 00:03:25,080 --> 00:03:27,320 INITIATIVE, WHICH ALSO INVOLVES 105 00:03:27,320 --> 00:03:29,920 INSTITUTIONS OUTSIDE OF NIH, 106 00:03:29,920 --> 00:03:32,360 HUNDREDS OF INDIVIDUALS WITH 107 00:03:32,360 --> 00:03:36,520 PERPLEXING CONSTELLATIONINGS OF CONSTELLAT IONS OF 108 00:03:36,520 --> 00:03:37,880 SYMPTOMS HAVE FOUND IN 109 00:03:37,880 --> 00:03:38,920 DIAGNOSIS, IN MOST CASES THIS 110 00:03:38,920 --> 00:03:41,800 HAS BEEN FA TILL TATED BY 111 00:03:41,800 --> 00:03:43,000 GENOMIC SEQUENCING APPROACHES. 112 00:03:43,000 --> 00:03:45,920 AT LEAST 50% OF THOSE WHO WERE 113 00:03:45,920 --> 00:03:46,600 DIAGNOSED WERE CHILDREN AND THEY 114 00:03:46,600 --> 00:03:49,000 WERE PREVIOUSLY UNDIAGNOSED. 115 00:03:49,000 --> 00:03:50,520 THIS PROGRAM SHOWS THE 116 00:03:50,520 --> 00:03:52,080 IMPORTANCE OF GENOMIC SEQUENCING 117 00:03:52,080 --> 00:03:54,560 TO SHORTEN THE DURATION OF THE 118 00:03:54,560 --> 00:03:56,960 DIAGNOSTIC ODYSSEY, AND IT IS 119 00:03:56,960 --> 00:03:59,000 NOW EXPANDED INTERNATIONALLY. 120 00:03:59,000 --> 00:04:00,720 EFFORTS ARE UNDERWAY TO DEVELOP 121 00:04:00,720 --> 00:04:04,200 A SUSTAINABLE MODEL FOR 122 00:04:04,200 --> 00:04:08,200 DIAGNOSING THE PREVIOUSLY 123 00:04:08,200 --> 00:04:09,320 UNDIAGNOSED THAT ENCOURAGES 124 00:04:09,320 --> 00:04:11,120 INSURANCE COVERAGE TO FUND THESE 125 00:04:11,120 --> 00:04:11,720 GENOMIC ANALYSES. 126 00:04:11,720 --> 00:04:15,200 AT THE SAME TIME, THERE HAVE 127 00:04:15,200 --> 00:04:17,120 BEEN INCREDIBLE RECENT ADVANCES 128 00:04:17,120 --> 00:04:18,120 IN THERAPEUTIC OPTIONS TO TREAT 129 00:04:18,120 --> 00:04:21,640 MANY DISEASES VERY EARLY IN 130 00:04:21,640 --> 00:04:22,360 LIFE. 131 00:04:22,360 --> 00:04:24,880 AND EARLY DIAGNOSIS CAN LEAD TO 132 00:04:24,880 --> 00:04:26,040 EARLIER LIFE-SAVING TREATMENT 133 00:04:26,040 --> 00:04:28,520 OPTIONS AND BETTER LONG-TERM 134 00:04:28,520 --> 00:04:32,920 OUTCOMES FOR THESE CHILDREN. 135 00:04:32,920 --> 00:04:36,160 RECENTLY ADOPTED NEWBORN 136 00:04:36,160 --> 00:04:37,480 SCREENING CONDITION SPINAL 137 00:04:37,480 --> 00:04:39,320 MUSCULAR ATROPHY NOW HAS TWO 138 00:04:39,320 --> 00:04:42,080 GENE BASED THERAPIES CURRENTLY 139 00:04:42,080 --> 00:04:43,040 AVAILABLE. 140 00:04:43,040 --> 00:04:44,720 THE DEVELOPMENT OF THESE NOVEL 141 00:04:44,720 --> 00:04:46,760 THERAPEUTICS WAS FACILITATED BY 142 00:04:46,760 --> 00:04:48,320 NICHD'S INVESTMENT IN 143 00:04:48,320 --> 00:04:49,080 FUNDAMENTAL RESEARCH TO 144 00:04:49,080 --> 00:04:50,480 UNDERSTAND THE NATURAL HISTORY 145 00:04:50,480 --> 00:04:53,920 OF SPINAL MUSCULAR ATROPHY, AND 146 00:04:53,920 --> 00:04:55,120 ITS SUPPORT OF EARLY TREATMENT 147 00:04:55,120 --> 00:04:58,040 TRIALS FOR THIS CONDITION. 148 00:04:58,040 --> 00:05:00,960 THIS IS BUT ONE EXAMPLE OF HOW 149 00:05:00,960 --> 00:05:02,040 NIH'S INVESTMENTS CAN PAVE THE 150 00:05:02,040 --> 00:05:03,680 WAY FOR GENOMIC TREATMENTS IN 151 00:05:03,680 --> 00:05:05,800 THE FUTURE. 152 00:05:05,800 --> 00:05:07,200 IT'S ALSO IMPORTANT TO NOTE THAT 153 00:05:07,200 --> 00:05:09,160 WHILE RESEARCH ADVANCES HAVE LED 154 00:05:09,160 --> 00:05:11,880 TO SOME EXCITING NEW THERAPIES, 155 00:05:11,880 --> 00:05:13,760 MANY OF THE CONDITIONS DIAGNOSED 156 00:05:13,760 --> 00:05:15,480 IN GENOMICS SEQUENCING CAN BE 157 00:05:15,480 --> 00:05:17,120 TREATED AT A VERY LOW COST. 158 00:05:17,120 --> 00:05:19,520 FOR EXAMPLE, WITH DIETARY 159 00:05:19,520 --> 00:05:21,520 CHANGES, WITH VITAMIN 160 00:05:21,520 --> 00:05:24,200 SUPPLEMENTS, OR REPURPOSED 161 00:05:24,200 --> 00:05:25,520 DRUGS. 162 00:05:25,520 --> 00:05:26,920 INVESTMENTS IN GENOMICS 163 00:05:26,920 --> 00:05:27,960 SEQUENCING RESEARCH AND 164 00:05:27,960 --> 00:05:30,000 THERAPEUTIC DEVELOP DEVELOPMENT 165 00:05:30,000 --> 00:05:30,960 HAVE BROUGHT US TO THE POINT 166 00:05:30,960 --> 00:05:31,520 WHERE WE ARE TODAY. 167 00:05:31,520 --> 00:05:33,320 WE HAVE THE KNOWLEDGE TO MAKE AN 168 00:05:33,320 --> 00:05:37,040 ENORMOUS IMPACT ON IMPROVING 169 00:05:37,040 --> 00:05:38,440 QUALITY AND LENGTH OF LIFE FOR 170 00:05:38,440 --> 00:05:41,360 CHILDREN WHO HAVE RARE AND/OR 171 00:05:41,360 --> 00:05:42,480 DIFFICULT-TO-DIAGNOSE DISEASES. 172 00:05:42,480 --> 00:05:44,680 NOW WE MUST WORK TO ENSURE 173 00:05:44,680 --> 00:05:48,600 EQUITABLE ACCESS TO THESE TOOLS 174 00:05:48,600 --> 00:05:49,160 AND TREATMENTS. 175 00:05:49,160 --> 00:05:50,880 I'D LIKE TO THANK ALL OF THE 176 00:05:50,880 --> 00:05:52,520 PANELS PARTICIPATING IN TODAY'S 177 00:05:52,520 --> 00:05:54,720 WEBINAR, AND ESPECIALLY 178 00:05:54,720 --> 00:05:55,840 MS. SUSIE WINGATE, FOR SHARING 179 00:05:55,840 --> 00:05:57,920 HER FAMILY'S JOURNEY TO 180 00:05:57,920 --> 00:06:00,360 DIAGNOSIS FOR HER YOUNG SON. 181 00:06:00,360 --> 00:06:01,520 AND NOW I'LL TURN THE PROGRAM 182 00:06:01,520 --> 00:06:04,240 OVER TO DR. CARRIE WOLINETZ FOR 183 00:06:04,240 --> 00:06:08,720 HER WELCOMING REMARKS. 184 00:06:08,720 --> 00:06:11,520 >> THANK YOU, DR. BIANCHI. 185 00:06:11,520 --> 00:06:13,960 THANK YOU BOTH FOR YOUR 186 00:06:13,960 --> 00:06:16,160 PARTNERSHIP IN THIS EVENT, AS 187 00:06:16,160 --> 00:06:18,920 WELL AS YOUR EXTRAORDINARY 188 00:06:18,920 --> 00:06:20,520 SCIENTIFIC LEADERSHIP OF NICHD, 189 00:06:20,520 --> 00:06:23,120 WHICH YOU APPROACH WITH SUCH 190 00:06:23,120 --> 00:06:25,920 GREAT PASSION AND COMPASSION. 191 00:06:25,920 --> 00:06:28,600 IT GREATLY APPRECIATED. 192 00:06:28,600 --> 00:06:31,080 THANK YOU, ECHOING DIANA'S 193 00:06:31,080 --> 00:06:33,720 GRATITUDE TO ALL OF OUR 194 00:06:33,720 --> 00:06:36,000 PANELISTS WHO JOINED US ON VERY 195 00:06:36,000 --> 00:06:38,000 SHORT NOTICE TO SHARE THEIR 196 00:06:38,000 --> 00:06:44,200 EXPERTISE TODAY FOR THIS REALLY 197 00:06:44,200 --> 00:06:45,040 CRITICAL CONVERSATION, AND THANK 198 00:06:45,040 --> 00:06:46,440 YOU TO ALL OF YOU WHO ARE TUNING 199 00:06:46,440 --> 00:06:48,960 IN TO THIS EVENT. 200 00:06:48,960 --> 00:06:51,480 I JOIN YOU TODAY AS THE DEPUTY 201 00:06:51,480 --> 00:06:52,720 DIRECTOR FOR HEALTH AND LIFE 202 00:06:52,720 --> 00:06:55,240 SCIENCES FROM THE WHITE HOUSE 203 00:06:55,240 --> 00:06:56,520 OFFICE OF SCIENCE AND TECHNOLOGY 204 00:06:56,520 --> 00:06:56,720 POLICY. 205 00:06:56,720 --> 00:06:59,000 OUR MISSION IS TO MAXIMIZE THE 206 00:06:59,000 --> 00:07:00,680 BENEFIT OF SCIENCE AND 207 00:07:00,680 --> 00:07:02,920 TECHNOLOGY TO ADVANCE HEALTH, 208 00:07:02,920 --> 00:07:04,720 PROSPERITY, SECURITY, 209 00:07:04,720 --> 00:07:05,840 ENVIRONMENTAL QUALITY AND 210 00:07:05,840 --> 00:07:08,920 JUSTICE FOR ALL AMERICANS. 211 00:07:08,920 --> 00:07:11,480 WE REALLY EPITOMIZE TWO OF THE 212 00:07:11,480 --> 00:07:12,920 CENTRAL VALUES OF THE BIDEN 213 00:07:12,920 --> 00:07:15,280 HARRIS ADMINISTRATION, BOTH THE 214 00:07:15,280 --> 00:07:16,520 WILLINGNESS AND COMMITMENT TO 215 00:07:16,520 --> 00:07:21,440 FOLLOW THE SCIENCE, AS WELL AS 216 00:07:21,440 --> 00:07:23,400 THE FOCUS ON EQUITY TO MAKE SURE 217 00:07:23,400 --> 00:07:26,600 THAT THE BENEFITS THAT -- THE 218 00:07:26,600 --> 00:07:29,240 FRUITS OF THAT SCIENCE REALLY 219 00:07:29,240 --> 00:07:31,240 ARE EQUITABLY DISTRIBUTED ACROSS 220 00:07:31,240 --> 00:07:34,400 THE UNITED STATES. 221 00:07:34,400 --> 00:07:36,920 I LEAD THE FIRST EVER HEALTH 222 00:07:36,920 --> 00:07:39,000 SCIENCE DIVISION AND OSTP WHICH 223 00:07:39,000 --> 00:07:41,400 HAS TRADITIONALLY BEEN MUCH MORE 224 00:07:41,400 --> 00:07:42,440 FOCUSED ON THE PHYSICAL SCIENCES 225 00:07:42,440 --> 00:07:44,120 AND I THINK THIS SPEAKS TO THE 226 00:07:44,120 --> 00:07:45,320 MOMENT IN WHICH WE ARE EXISTING 227 00:07:45,320 --> 00:07:47,840 AT THE TAIL END OF THE HISTORIC 228 00:07:47,840 --> 00:07:49,560 AND UNPRECEDENTED COVID-19 229 00:07:49,560 --> 00:07:51,720 PANDEMIC, BUT ALSO AT THE BRINK 230 00:07:51,720 --> 00:07:55,400 OF TRULY EXCITING POSSIBILITIES 231 00:07:55,400 --> 00:07:57,440 ENABLED BY BIOLOGY AND OUR 232 00:07:57,440 --> 00:08:00,400 UNDERSTANDING OF HUMAN HEALTH 233 00:08:00,400 --> 00:08:02,080 AND BIOTECHNOLOGY, INCLUDING 234 00:08:02,080 --> 00:08:04,440 GENOMIC SEQUENCING AND ITS 235 00:08:04,440 --> 00:08:05,080 CLINICAL APPLICATIONS, WHICH IS 236 00:08:05,080 --> 00:08:07,440 WHAT WE ARE FOCUSED ON, OF 237 00:08:07,440 --> 00:08:10,040 COURSE, TODAY. 238 00:08:10,040 --> 00:08:13,400 ACCELERATING TECHNOLOGICAL AND 239 00:08:13,400 --> 00:08:14,720 BIOMEDICAL ADVANCES TO REALLY 240 00:08:14,720 --> 00:08:17,000 GET INNOVATION INTO THE HANDS OF 241 00:08:17,000 --> 00:08:18,800 PATIENTS IS SOMETHING THAT THE 242 00:08:18,800 --> 00:08:21,520 PRESIDENT AND THE VICE PRESIDENT 243 00:08:21,520 --> 00:08:23,120 ARE PERSONALLY VERY PASSIONATE 244 00:08:23,120 --> 00:08:24,960 ABOUT AS EVIDENCED BY 245 00:08:24,960 --> 00:08:26,360 INITIATIVES LIKE THE CANCER 246 00:08:26,360 --> 00:08:29,000 MOONSHOT, OR THE STANDING UP OF 247 00:08:29,000 --> 00:08:31,480 A NEW RESEARCH AGENCY, THE 248 00:08:31,480 --> 00:08:32,920 ADVANCED RESEARCH PROJECT AGENCY 249 00:08:32,920 --> 00:08:36,680 FOR HEALTH OR ARPA-H, AND THIS 250 00:08:36,680 --> 00:08:38,960 IS SOMETHING THAT WE WANT TO 251 00:08:38,960 --> 00:08:41,680 MAKE SURE IS NOT ONLY MOVING 252 00:08:41,680 --> 00:08:44,880 FASTER, BUT IS ALSO REACHING 253 00:08:44,880 --> 00:08:46,320 EVERYONE ACROSS THE NATION WHO 254 00:08:46,320 --> 00:08:48,920 NEEDS IT. 255 00:08:48,920 --> 00:08:51,800 SO AS WE JUST HEARD FROM 256 00:08:51,800 --> 00:08:54,000 DR. BIANCHI, WE'RE REALLY SEEING 257 00:08:54,000 --> 00:08:56,240 THE EMERGENCE OF POWERFUL 258 00:08:56,240 --> 00:08:59,240 SEQUENCING TECHNOLOGIES OVER THE 259 00:08:59,240 --> 00:09:00,240 LAST DECADE. 260 00:09:00,240 --> 00:09:01,880 IN SOME CLINICAL SCENARIOS, THAT 261 00:09:01,880 --> 00:09:05,080 CAN BE LIFE-CHANGING, AND EVEN 262 00:09:05,080 --> 00:09:06,320 LIFE-SAVING FOR PATIENTS, AND I 263 00:09:06,320 --> 00:09:09,000 ECHO DR. BIANCHI'S THANKS TO THE 264 00:09:09,000 --> 00:09:11,400 WINGATE FAMILY FOR SHARING THEIR 265 00:09:11,400 --> 00:09:12,360 STORY TODAY. 266 00:09:12,360 --> 00:09:14,640 I THINK IT'S CRITICALLY 267 00:09:14,640 --> 00:09:17,040 IMPORTANT TO PUT A HUMAN FACE ON 268 00:09:17,040 --> 00:09:20,320 WHAT MAY SEEM LIKE AN ABSTRACT 269 00:09:20,320 --> 00:09:21,520 CONCEPT. 270 00:09:21,520 --> 00:09:23,680 SO I AM APPROACHING YOU TODAY AS 271 00:09:23,680 --> 00:09:28,160 A SCIENTIST AND A POLICY MAKER, 272 00:09:28,160 --> 00:09:30,880 BUT ALSO AS A CARRIER OF A RARE 273 00:09:30,880 --> 00:09:32,600 DISEASE WHICH I KNOW BECAUSE I, 274 00:09:32,600 --> 00:09:33,720 LIKE MANY, MANY OTHER FAMILIES, 275 00:09:33,720 --> 00:09:36,120 FOUND OUT WHEN I HAD A CHILD WHO 276 00:09:36,120 --> 00:09:38,760 WAS UNEXPECTEDLY BORN SICK, WITH 277 00:09:38,760 --> 00:09:42,040 A RARE DISEASE, AND SO I'VE HAD 278 00:09:42,040 --> 00:09:45,360 THE PERSONAL EXPERIENCE OF 279 00:09:45,360 --> 00:09:48,480 HORROR, OF SADNESS, OF SHOCK, OF 280 00:09:48,480 --> 00:09:50,920 HAVING AN INCREDIBLY SICK CHILD, 281 00:09:50,920 --> 00:09:54,600 AND HAVING NO IDEA WHAT THE 282 00:09:54,600 --> 00:09:55,800 CONDITION THEY ARE SUFFERING 283 00:09:55,800 --> 00:09:58,120 FROM IS. 284 00:09:58,120 --> 00:10:02,000 IN SOME WAYS, NOT KNOWING, NOT 285 00:10:02,000 --> 00:10:02,720 KNOWING WHAT THE DIAGNOSIS IS, 286 00:10:02,720 --> 00:10:04,080 NOT KNOWING IF THERE'S A 287 00:10:04,080 --> 00:10:04,800 TREATMENT AVAILABLE, NOT KNOWING 288 00:10:04,800 --> 00:10:07,600 WHAT THEIR FUTURE HOLDS IS 289 00:10:07,600 --> 00:10:11,440 ALMOST WORSE THAN THE SICKNESS 290 00:10:11,440 --> 00:10:11,920 ITSELF. 291 00:10:11,920 --> 00:10:13,960 AND SO THE ABILITY TO USE 292 00:10:13,960 --> 00:10:15,120 TECHNOLOGY LIKE GENOMICS 293 00:10:15,120 --> 00:10:18,200 SEQUENCING TO END THAT ODYSSEY 294 00:10:18,200 --> 00:10:20,080 IS NOT AN ABSTRACT CONCEPT, IT 295 00:10:20,080 --> 00:10:24,520 IS REAL IN THE LIVES OF MANY, 296 00:10:24,520 --> 00:10:25,400 MANY PATIENTS AND THEIR FAMILIES 297 00:10:25,400 --> 00:10:26,520 EVERY DAY ACROSS THE UNITED 298 00:10:26,520 --> 00:10:28,800 STATES. 299 00:10:28,800 --> 00:10:30,720 SIX WEEKS AFTER THE DEATH OF MY 300 00:10:30,720 --> 00:10:31,960 DAUGHTER, WHEN I JUST COULDN'T 301 00:10:31,960 --> 00:10:37,960 STAND TO BE HOME ALONE WITH MY 302 00:10:37,960 --> 00:10:39,840 GRIEF ANYMORE, I WENT BACK TO 303 00:10:39,840 --> 00:10:41,680 WORK, AND WITHIN THAT FIRST 304 00:10:41,680 --> 00:10:44,760 WEEK, LED A MEETING CELEBRATING 305 00:10:44,760 --> 00:10:47,720 ALL OF THE RETURNS OF THE HUMAN 306 00:10:47,720 --> 00:10:48,800 GENOME PROJECT. 307 00:10:48,800 --> 00:10:50,960 THIS WAS A MASSIVE PUBLIC AND 308 00:10:50,960 --> 00:10:53,920 PRIVATE INVESTMENT IN WHICH WE 309 00:10:53,920 --> 00:10:56,920 HAVE SEEN THE CLINICAL RETURNS, 310 00:10:56,920 --> 00:10:59,440 THE ECONOMIC RETURNS JUST GROW 311 00:10:59,440 --> 00:11:01,800 BY ORDERS OF MAGNITUDE EVERY 312 00:11:01,800 --> 00:11:04,520 YEAR SINCE ITS COMPLETION. 313 00:11:04,520 --> 00:11:08,120 AT THAT EVENT WAS A FAMILY WHO 314 00:11:08,120 --> 00:11:10,200 AGAIN GAVE THEIR STORY OF A 315 00:11:10,200 --> 00:11:12,840 DIAGNOSTIC ODYSSEY, THE 316 00:11:12,840 --> 00:11:15,640 WELL-KNOWN STORY OF THE BERIE 317 00:11:15,640 --> 00:11:17,200 FAMILY, WHO HAD TWINS BORN WITH 318 00:11:17,200 --> 00:11:18,560 AN UNDIAGNOSED DISEASE AND 319 00:11:18,560 --> 00:11:19,920 THANKS TO GENOMICS SEQUENCING, 320 00:11:19,920 --> 00:11:21,440 WERE ABLE TO FIND TREATMENT THAT 321 00:11:21,440 --> 00:11:24,560 ALLOWED THEM TO LIVE HAPPY, 322 00:11:24,560 --> 00:11:25,880 HEALTHY LIVES. 323 00:11:25,880 --> 00:11:28,880 IN THEIR CASE, THEY WERE QUITE 324 00:11:28,880 --> 00:11:30,920 FORTUNATE THAT THEIR FATHER WAS 325 00:11:30,920 --> 00:11:33,000 ASSOCIATED WITH A COMPANY THAT 326 00:11:33,000 --> 00:11:35,720 WAS INVOLVED IN GENOMICS 327 00:11:35,720 --> 00:11:36,000 SEQUENCING. 328 00:11:36,000 --> 00:11:37,920 BUT YOUR ACCESS TO TECHNOLOGY 329 00:11:37,920 --> 00:11:39,720 SHOULD NOT DEPEND ON WHO YOU 330 00:11:39,720 --> 00:11:42,000 KNOW, IT SHOULD NOT DEPEND ON 331 00:11:42,000 --> 00:11:46,320 WHERE YOU LIVE, IT SHOULD REALLY 332 00:11:46,320 --> 00:11:47,520 BE AVAILABLE IN WAYS THAT CAN 333 00:11:47,520 --> 00:11:52,680 HELP SAVE PEOPLE'S LIVES AND END 334 00:11:52,680 --> 00:11:53,680 THAT DIAGNOSTIC ODYSSEY. 335 00:11:53,680 --> 00:11:55,320 AS WE'VE ENGAGED WITH 336 00:11:55,320 --> 00:11:56,760 STAKEHOLDERS ACROSS THE COUNTRY, 337 00:11:56,760 --> 00:12:01,200 WE'VE HEARD A LOT ABOUT BARRIERS 338 00:12:01,200 --> 00:12:02,320 AND CHALLENGES IMPEDING ACCESS 339 00:12:02,320 --> 00:12:03,520 TO THIS TECHNOLOGY TO PATIENT, 340 00:12:03,520 --> 00:12:07,640 TO FAMILIES, WHETHER THAT'S 341 00:12:07,640 --> 00:12:09,240 GEOGRAPHIC ISSUES, LIKE BEING IN 342 00:12:09,240 --> 00:12:10,360 A RURAL PART OF THE COUNTRY THAT 343 00:12:10,360 --> 00:12:15,600 ARE FAR FROM SPECIALTY CARE OR 344 00:12:15,600 --> 00:12:17,240 SEQUENCING CENTERS, PROVIDERS 345 00:12:17,240 --> 00:12:20,520 THAT ARE PERHAPS NOT FAMILIAR 346 00:12:20,520 --> 00:12:22,920 WITH THE POWER OF SEQUENCING 347 00:12:22,920 --> 00:12:24,200 TECHNOLOGIES AND USE OF CLINICAL 348 00:12:24,200 --> 00:12:26,000 APPLICATION. 349 00:12:26,000 --> 00:12:28,240 THE PATCHWORK OF INSURANCE 350 00:12:28,240 --> 00:12:31,920 COVERAGE THAT CAN CREATE AND 351 00:12:31,920 --> 00:12:33,400 EXACERBATE EXISTING HEALTH AND 352 00:12:33,400 --> 00:12:38,480 ACCESS DISPARITIES, AND SO ALL 353 00:12:38,480 --> 00:12:40,720 OF THIS, HEARING ALL OF THESE 354 00:12:40,720 --> 00:12:41,960 VOICES AND MORE THAT YOU'RE 355 00:12:41,960 --> 00:12:43,520 GOING TO HEAR TODAY, IS WHY WE 356 00:12:43,520 --> 00:12:45,080 ARE SO PLEASED TO PARTNER WITH 357 00:12:45,080 --> 00:12:46,720 NICHD TO CONVENE TODAY'S EVENT, 358 00:12:46,720 --> 00:12:49,320 TO HELP SHOWCASE THOSE WHO ARE 359 00:12:49,320 --> 00:12:52,560 DRIVING THE EVIDENCE BASE AND 360 00:12:52,560 --> 00:12:53,920 ADVANCES IN CARE, AND THOSE WHO 361 00:12:53,920 --> 00:12:56,320 ARE HELPING TO ENSURE PATIENT 362 00:12:56,320 --> 00:12:58,280 ACCESS, WHICH CAN REALLY BE A 363 00:12:58,280 --> 00:13:00,760 KEY DRIVER FOR ADVANCING EQUITY 364 00:13:00,760 --> 00:13:01,560 AND SHRINKING HEALTH 365 00:13:01,560 --> 00:13:02,480 DISPARITIES. 366 00:13:02,480 --> 00:13:05,400 I'M REALLY LOOKING FORWARD TO A 367 00:13:05,400 --> 00:13:06,840 LIVELY DISCUSSION ON THESE 368 00:13:06,840 --> 00:13:07,320 TOPICS. 369 00:13:07,320 --> 00:13:08,800 WE'VE GOT JUST SOME REALLY 370 00:13:08,800 --> 00:13:10,680 EXTRAORDINARY PANELISTS. 371 00:13:10,680 --> 00:13:15,120 THANK YOU FOR BEING HERE TODAY, 372 00:13:15,120 --> 00:13:16,600 AND A SPECIAL THANKS TO MY 373 00:13:16,600 --> 00:13:17,520 COLLEAGUE, MAX BRONSTEIN, WHO 374 00:13:17,520 --> 00:13:20,960 HAS REALLY DONE THE VAST 375 00:13:20,960 --> 00:13:22,640 MAJORITY OF THE WORK IN BRINGING 376 00:13:22,640 --> 00:13:27,320 US TOGETHER TODAY. 377 00:13:27,320 --> 00:13:29,240 SO I'D LIKE TO TURN IT OVER WITH 378 00:13:29,240 --> 00:13:30,720 GREAT PLEASURE TO DR. CHESTER 379 00:13:30,720 --> 00:13:32,840 BROWN, THE GENETICS DIVISION 380 00:13:32,840 --> 00:13:36,600 CHIEF AT LE BONHEUR CHILDREN'S 381 00:13:36,600 --> 00:13:37,720 HOSPITAL WHO'S GOING TO BE 382 00:13:37,720 --> 00:13:38,920 MODERATING OUR FIRST PANEL. 383 00:13:38,920 --> 00:13:39,760 SO DR. BROWN, OVER TO YOU AND 384 00:13:39,760 --> 00:13:40,480 THANK YOU FOR BEING HERE. 385 00:13:40,480 --> 00:13:40,880 >> ALL RIGHT. 386 00:13:40,880 --> 00:13:43,160 THANK YOU, CARRIE, FOR THAT 387 00:13:43,160 --> 00:13:43,600 INTRODUCTION. 388 00:13:43,600 --> 00:13:46,520 FIRST OF ALL, THANK YOU TO THE 389 00:13:46,520 --> 00:13:49,720 ORGANIZERS FOR GIVING ME THIS 390 00:13:49,720 --> 00:13:50,920 OPPORTUNITY TO REALLY HELP 391 00:13:50,920 --> 00:13:53,000 MODERATE A GROUP OF CLEARLY 392 00:13:53,000 --> 00:13:54,200 DISTINGUISHED IN MANY DIFFERENT 393 00:13:54,200 --> 00:13:55,640 WAYS PANELISTS WHO WILL PROVIDE 394 00:13:55,640 --> 00:13:58,040 THEIR OWN INSIGHT INTO THE 395 00:13:58,040 --> 00:13:59,680 IMPORTANCE OF THE EFFORTS THAT 396 00:13:59,680 --> 00:14:02,120 ARE BEING ADDRESSED TODAY. 397 00:14:02,120 --> 00:14:04,600 AGAIN, I'M DIVISION CHIEF, IT IS 398 00:14:04,600 --> 00:14:06,880 LE BONHEUR, THAT'S WHAT WE CALL 399 00:14:06,880 --> 00:14:09,960 IT IN TENNESSEE, THE GOOD HOUR. 400 00:14:09,960 --> 00:14:11,760 THERE'S A STORY BEHIND THAT IF 401 00:14:11,760 --> 00:14:12,840 ANYONE IS INTERESTED. 402 00:14:12,840 --> 00:14:15,920 BUT I COME TO YOU FROM THE 403 00:14:15,920 --> 00:14:17,680 PERSPECTIVE OF A CLINICAL 404 00:14:17,680 --> 00:14:19,320 GENETICIST WHO HAS NEVER LEFT 405 00:14:19,320 --> 00:14:20,960 CLINICAL PRACTICE SINCE 406 00:14:20,960 --> 00:14:22,680 FINISHING FELLOWSHIP BACK IN THE 407 00:14:22,680 --> 00:14:23,560 MID 1990s, DO A LOT OF OTHER 408 00:14:23,560 --> 00:14:25,640 THINGS AS WELL, BUT NOTHING MORE 409 00:14:25,640 --> 00:14:26,920 IMPORTANT THAN TRYING TO PROVIDE 410 00:14:26,920 --> 00:14:28,360 THE BEST POSSIBLE CLINICAL 411 00:14:28,360 --> 00:14:29,760 GENETICS SERVICES TO THE 412 00:14:29,760 --> 00:14:30,440 PATIENTS, PARTICULARLY THE 413 00:14:30,440 --> 00:14:36,120 CHILDREN THAT WE SERVE TO WHOM 414 00:14:36,120 --> 00:14:37,440 WE HAVE THE GREATEST OPPORTUNITY 415 00:14:37,440 --> 00:14:38,640 TO PROVIDE QUALITY OF LIFE 416 00:14:38,640 --> 00:14:38,840 YEARS. 417 00:14:38,840 --> 00:14:40,240 SO WE HAVE AGAIN A VERY 418 00:14:40,240 --> 00:14:41,360 DISTINGUISHED GROUP OF PANELISTS 419 00:14:41,360 --> 00:14:42,360 TODAY WHO ARE GOING TO ADDRESS 420 00:14:42,360 --> 00:14:43,760 SOME OF THE CRITICAL ISSUES, I 421 00:14:43,760 --> 00:14:44,840 THINK, THAT ARE IMPORTANT FOR US 422 00:14:44,840 --> 00:14:45,960 TO THINK ABOUT. 423 00:14:45,960 --> 00:14:47,160 HAVING BEEN THERE AT THE 424 00:14:47,160 --> 00:14:49,120 BEGINNING OF THE MOLECULAR ERA, 425 00:14:49,120 --> 00:14:51,320 IF YOU WILL, OF DIAGNOSTICS, I 426 00:14:51,320 --> 00:14:52,560 WATCHED THINGS GO THROUGH WHAT I 427 00:14:52,560 --> 00:14:54,120 LIKE TO CALL THE CIRCLE OF LIFE. 428 00:14:54,120 --> 00:14:57,000 THAT SOMEONE DEVELOPS A NEW 429 00:14:57,000 --> 00:14:57,960 TECHNOLOGY AND BEGINS TO 430 00:14:57,960 --> 00:14:59,160 IMPLEMENT IT CLINICALLY. 431 00:14:59,160 --> 00:15:00,360 THEY ASK FOR INSURANCE TO HELP 432 00:15:00,360 --> 00:15:02,480 SUPPORT THAT EFFORT AND 433 00:15:02,480 --> 00:15:02,960 UNDERSTANDABLY INSURANCE 434 00:15:02,960 --> 00:15:05,120 COMPANIES SAY, HEY, THIS IS NOT 435 00:15:05,120 --> 00:15:06,920 PROVEN TO BE EFFECTIVE. 436 00:15:06,920 --> 00:15:08,080 IT'S EXPERIMENTAL, YOU KNOW, 437 00:15:08,080 --> 00:15:11,280 THAT KIND OF THING. 438 00:15:11,280 --> 00:15:11,920 NEVERTHELESS, COMPANIES CONTINUE 439 00:15:11,920 --> 00:15:14,160 TO DEVELOP THE TECHNOLOGIES, 440 00:15:14,160 --> 00:15:15,280 THEY COMPETE WITH EACH OTHER, 441 00:15:15,280 --> 00:15:16,720 THEY DRIVE THE COST DOWN, 442 00:15:16,720 --> 00:15:18,280 FRANKLY, AND ULTIMATELY IT 443 00:15:18,280 --> 00:15:21,120 BECOMES A PART OF MAINSTREAM 444 00:15:21,120 --> 00:15:23,440 PRACTICE ONCE EVIDENCE BASE HAS 445 00:15:23,440 --> 00:15:24,160 BEEN DEVELOPED. 446 00:15:24,160 --> 00:15:25,480 THAT HAS BEEN ONE OF THE KEY 447 00:15:25,480 --> 00:15:27,760 THINGS IN RECENT YEARS THAT HAS 448 00:15:27,760 --> 00:15:29,240 DEVELOPED, OUR ABILITY TO, IN 449 00:15:29,240 --> 00:15:30,680 FACT, DEVELOP THAT EVIDENCE BASE 450 00:15:30,680 --> 00:15:32,360 TO SHOW THAT WHAT WE'RE DOING IN 451 00:15:32,360 --> 00:15:34,520 THAT REGARD IS EFFECTIVE. 452 00:15:34,520 --> 00:15:36,040 ANOTHER IMPORTANT THING TO 453 00:15:36,040 --> 00:15:37,280 CONSIDER IS THE MEASURE OF 454 00:15:37,280 --> 00:15:39,240 CLINICAL UTILITY. 455 00:15:39,240 --> 00:15:40,520 SOME LIKE TO ADD PERSONAL 456 00:15:40,520 --> 00:15:42,640 UTILITY TO THAT DEFINITION. 457 00:15:42,640 --> 00:15:45,880 THINKING BEYOND THE WHAT DID 458 00:15:45,880 --> 00:15:47,120 THIS CHANGE AS FAR AS A DRUG 459 00:15:47,120 --> 00:15:49,320 THAT YOU GAVE OR SPECIFIC 460 00:15:49,320 --> 00:15:51,640 CLINICAL INTERVENTION. 461 00:15:51,640 --> 00:15:53,080 AS YOU'LL HEAR FROM OUR 462 00:15:53,080 --> 00:15:53,880 PANELISTS, THERE'S QUITE A BIT 463 00:15:53,880 --> 00:15:55,960 OF VALUE TO JUST KNOWING THE 464 00:15:55,960 --> 00:15:59,320 ANSWER, IN FACT, AND AS WE JUST 465 00:15:59,320 --> 00:16:00,840 HEARD, A NUMBER OF THERAPEUTICS 466 00:16:00,840 --> 00:16:03,680 THAT ARE NEW, NOVEL, BASED ON 467 00:16:03,680 --> 00:16:04,200 THESE DISCOVERIES. 468 00:16:04,200 --> 00:16:05,320 SO I THINK THIS IS A VERY 469 00:16:05,320 --> 00:16:07,120 IMPORTANT THING TO CONSIDER. 470 00:16:07,120 --> 00:16:10,320 IT MORE THAN JUST A THERAPY OR 471 00:16:10,320 --> 00:16:10,720 INTERVENTION. 472 00:16:10,720 --> 00:16:12,320 ANY NUMBER OF THINGS CONTRIBUTE 473 00:16:12,320 --> 00:16:14,440 TO IMPORTANT CLINICAL UTILITY. 474 00:16:14,440 --> 00:16:16,720 AND FINALLY, SOMETHING NEAR AND 475 00:16:16,720 --> 00:16:18,520 DEAR TO MY HEART, HAVING 476 00:16:18,520 --> 00:16:19,840 PRACTICED AT BAYLOR COLLEGE OF 477 00:16:19,840 --> 00:16:21,120 MEDICINE FOR ABOUT 23 YEARS 478 00:16:21,120 --> 00:16:24,640 BEFORE MY MOVE TO MEMPHIS, 479 00:16:24,640 --> 00:16:26,960 MEMPHIS WHERE THE POPULATION IS 480 00:16:26,960 --> 00:16:30,000 ROUGHLY 64% AFRICAN AMERICAN, 481 00:16:30,000 --> 00:16:31,320 THERE ARE ECONOMIC CHALLENGES IN 482 00:16:31,320 --> 00:16:32,960 THIS PART OF THE COUNTRY, AND WE 483 00:16:32,960 --> 00:16:35,680 ARE CONSTANTLY FACED IN OUR 484 00:16:35,680 --> 00:16:37,920 TRI-STATE AREA OF TENNESSEE, 485 00:16:37,920 --> 00:16:39,960 MISSISSIPPI, AND ARKANSAS, THE 486 00:16:39,960 --> 00:16:41,560 CHALLENGES OF GETTING THE 487 00:16:41,560 --> 00:16:43,000 GENETIC SERVICES FOR THE 488 00:16:43,000 --> 00:16:44,120 PATIENTS WE SERVE. 489 00:16:44,120 --> 00:16:47,520 SO AN IMPORTANT CONSIDERATION IS 490 00:16:47,520 --> 00:16:48,040 ACCESS. 491 00:16:48,040 --> 00:16:49,760 WILL WE BE CREATING GREATER 492 00:16:49,760 --> 00:16:51,720 DISPARITIES IF WE IMPLEMENT 493 00:16:51,720 --> 00:16:52,400 THESE TECHNOLOGIES, AND I 494 00:16:52,400 --> 00:16:53,960 MAINTAIN THE ANSWER TO THAT 495 00:16:53,960 --> 00:16:57,000 QUESTION IS NO, BUT ONLY IF WE 496 00:16:57,000 --> 00:16:57,600 WORK TOGETHER. 497 00:16:57,600 --> 00:16:59,400 IF THE CLINICIANS INVOLVED, IF 498 00:16:59,400 --> 00:17:02,000 THE PAYORS INVOLVED, IF THE 499 00:17:02,000 --> 00:17:03,960 FEDERAL GOVERNMENT, PATIENTS 500 00:17:03,960 --> 00:17:05,200 THEMSELVES, GENOMIC RESEARCHERS, 501 00:17:05,200 --> 00:17:07,360 ALL WORK IN CONCERT TO MAKE SURE 502 00:17:07,360 --> 00:17:09,240 THAT WE ARE NOT CREATING EVEN 503 00:17:09,240 --> 00:17:10,560 GREATER DISPARITIES. 504 00:17:10,560 --> 00:17:12,200 AND WITH THAT, I'M GOING TO MOVE 505 00:17:12,200 --> 00:17:14,120 ON TO THE INTRODUCTION OF OUR 506 00:17:14,120 --> 00:17:16,520 FIRST PRESTIGIOUS GUEST AND 507 00:17:16,520 --> 00:17:20,960 PANELIST, TERI MANOLIO, WHO IS 508 00:17:20,960 --> 00:17:23,960 AT THE NHGRI AND DIRECTOR OF THE 509 00:17:23,960 --> 00:17:27,280 DIVISION OF GENOMIC MEDICINE. 510 00:17:27,280 --> 00:17:27,480 TERI? 511 00:17:27,480 --> 00:17:28,720 >> THANK YOU VERY MUCH. 512 00:17:28,720 --> 00:17:30,040 GOOD AFTERNOON, GOOD MORNING, 513 00:17:30,040 --> 00:17:30,320 EVERYONE. 514 00:17:30,320 --> 00:17:33,480 I'VE BEEN ASKED TO SPEAK ON THE 515 00:17:33,480 --> 00:17:34,560 EMERGENCE OF CLINICAL 516 00:17:34,560 --> 00:17:36,520 SEQUENCING, WHICH REALLY BEGAN 517 00:17:36,520 --> 00:17:37,360 WITH THE HUMAN GENOME PROJECT. 518 00:17:37,360 --> 00:17:38,520 YOU HEARD A LITTLE BIT ABOUT 519 00:17:38,520 --> 00:17:43,400 THAT FROM CARRIE, WHEN THE 520 00:17:43,400 --> 00:17:44,520 GENOME PROJECT PUBLISHED ITS 521 00:17:44,520 --> 00:17:47,360 DRAFT SEQUENCE THE GENOME IN 522 00:17:47,360 --> 00:17:49,920 2001, THE ESTIMATED COST WAS 523 00:17:49,920 --> 00:17:52,040 ABOUT $100 MILLION PER GENOME, A 524 00:17:52,040 --> 00:17:53,760 LITTLE BIT EXTRAVAGANT, EVEN FOR 525 00:17:53,760 --> 00:17:54,640 OUR HEALTHCARE SYSTEM. 526 00:17:54,640 --> 00:17:55,960 BUT YOU CAN SEE THAT OVER TIME, 527 00:17:55,960 --> 00:17:58,400 THE COSTS HAVE REALLY COME DOWN 528 00:17:58,400 --> 00:18:02,080 QUITE DRAMATICALLY. 529 00:18:02,080 --> 00:18:03,280 THAT WAS NOT ACCIDENT TALL AND 530 00:18:03,280 --> 00:18:04,520 THIS BIG INFLECTION POINT THAT 531 00:18:04,520 --> 00:18:06,600 YOU CAN SEE HERE IN 2007 WAS THE 532 00:18:06,600 --> 00:18:08,520 INTRODUCTION OF A DISRUPTIVE 533 00:18:08,520 --> 00:18:10,720 TECHNOLOGY INTERSECTION GENOME 534 00:18:10,720 --> 00:18:11,480 SEQUENCING, THAT ACTUALLY HAD 535 00:18:11,480 --> 00:18:14,600 BEEN THE PRODUCT OF A HUGE 536 00:18:14,600 --> 00:18:16,360 AMOUNT OF EFFORT AND INVESTMENT, 537 00:18:16,360 --> 00:18:19,280 BOTH FROM MY INSTITUTE, NHGRI, 538 00:18:19,280 --> 00:18:22,080 AND OTHERS IN WHAT WERE CALLED 539 00:18:22,080 --> 00:18:23,360 THE $100,000 GENOME AND THOUSAND 540 00:18:23,360 --> 00:18:24,760 DOLLAR GENOME PROJECTS, AND YOU 541 00:18:24,760 --> 00:18:28,400 CAN SEE IN BLUE THE FORMER AND 542 00:18:28,400 --> 00:18:30,720 THEN THE CONTINUED INVESTMENT 543 00:18:30,720 --> 00:18:32,920 FOR THE LATTER. 544 00:18:32,920 --> 00:18:35,720 TOTALING ABOUT 200 MILLION FOR 545 00:18:35,720 --> 00:18:37,320 OUR RELATIVELY SMALL INSTITUTE. 546 00:18:37,320 --> 00:18:39,320 BUT IT REALLY BORE TREMENDOUS 547 00:18:39,320 --> 00:18:40,200 FRUIT. 548 00:18:40,200 --> 00:18:43,120 AND THIS WAS AN ACADEMIC 549 00:18:43,120 --> 00:18:43,720 PUBLIC-PRIEF COLLABORATION IN 550 00:18:43,720 --> 00:18:45,120 DEVELOPMENT OF SEQUENCING 551 00:18:45,120 --> 00:18:46,240 TECHNOLOGY, AND IT CONTINUES 552 00:18:46,240 --> 00:18:46,680 TODAY. 553 00:18:46,680 --> 00:18:49,280 SO WE ARE WORKING VERY ACTIVELY 554 00:18:49,280 --> 00:18:53,440 TO TRY TO IMPROVE AND REFINE AND 555 00:18:53,440 --> 00:18:54,160 MAKE MORE EFFICIENT SEQUENCING, 556 00:18:54,160 --> 00:18:58,000 AND YOU CAN SEE SORT OF IN 557 00:18:58,000 --> 00:19:00,000 YELLOW THE ACADEMIC CONTRIBUTION 558 00:19:00,000 --> 00:19:01,440 WAS AT THE VERY BASIC LEVEL THAT 559 00:19:01,440 --> 00:19:03,920 WOULD NOT/COULD NOT BE PURSUED 560 00:19:03,920 --> 00:19:05,320 BY INDUSTRY, AND THAT KIND OF 561 00:19:05,320 --> 00:19:08,960 SHIFTED OVER THEN INTO PROOF OF 562 00:19:08,960 --> 00:19:10,160 PRINCIPLE STUDIES IN THE 563 00:19:10,160 --> 00:19:13,200 ACADEMIC SECTOR MIXED WITH 564 00:19:13,200 --> 00:19:13,880 PUBLIC-PRIVATE PARTNERSHIP, MORE 565 00:19:13,880 --> 00:19:14,920 THEN OVER TO THE PRIVATE SECTOR 566 00:19:14,920 --> 00:19:17,320 FOR PROTOTYPING AND ALPHA AND 567 00:19:17,320 --> 00:19:19,640 BETA TESTING SEQUENCING CENTERS 568 00:19:19,640 --> 00:19:22,480 WERE SUPPORTED BY NHGRI, THE 569 00:19:22,480 --> 00:19:23,920 LARGE SCALE GENOME SEQUENCING 570 00:19:23,920 --> 00:19:25,520 CENTERS, AND THEY LED TO SORT OF 571 00:19:25,520 --> 00:19:28,000 HARDENING OF THIS PRODUCTION AND 572 00:19:28,000 --> 00:19:29,880 THEN ROUTINE PRODUCTION, AND 573 00:19:29,880 --> 00:19:30,720 THROUGHOUT, THERE WAS NIH 574 00:19:30,720 --> 00:19:32,120 SUPPORT, WHICH CONTINUES TODAY 575 00:19:32,120 --> 00:19:35,120 FOR THESE PROGRAMS. 576 00:19:35,120 --> 00:19:36,680 IN TRYING TO MOVE THIS, THOUGH, 577 00:19:36,680 --> 00:19:37,840 INTO CLINICAL IMPLEMENTATION, 578 00:19:37,840 --> 00:19:39,720 WE'VE HAD A VARIETY OF PROGRAMS. 579 00:19:39,720 --> 00:19:44,400 HEARD ABOUT A COUPLE OF THEM 580 00:19:44,400 --> 00:19:44,640 ALREADY. 581 00:19:44,640 --> 00:19:46,160 AIM TO KIND OF THINK OF THEM ON 582 00:19:46,160 --> 00:19:47,720 A SPECTRUM WITH THE INCREASING 583 00:19:47,720 --> 00:19:48,800 DEPTH OF PATIENT 584 00:19:48,800 --> 00:19:49,920 CHARACTERIZATION ALONG THE Y 585 00:19:49,920 --> 00:19:51,880 AXIS AND THE INCREASING BREADTH 586 00:19:51,880 --> 00:19:53,840 OF IMPLEMENTATION ALONG THE X 587 00:19:53,840 --> 00:19:54,040 AXIS. 588 00:19:54,040 --> 00:19:55,240 WE WANTED TO MOVE FROM THE LOWER 589 00:19:55,240 --> 00:19:57,880 LEFT TO THE UPPER RIGHT, IF YOU 590 00:19:57,880 --> 00:19:58,440 WILL. 591 00:19:58,440 --> 00:20:01,000 YOU HEARD MENTION OF THE UDN AND 592 00:20:01,000 --> 00:20:04,080 THE NSITE PROJECT, BOTH OF WHICH 593 00:20:04,080 --> 00:20:05,400 WERE FOCUSED VERY MUCH ON 594 00:20:05,400 --> 00:20:06,920 INDIVIDUAL PATIENT AND COMING UP 595 00:20:06,920 --> 00:20:10,120 WITH A DIAGNOSIS AND POTENTIAL 596 00:20:10,120 --> 00:20:11,880 CLINICAL CARE FOR THE 597 00:20:11,880 --> 00:20:12,720 INDIVIDUAL. 598 00:20:12,720 --> 00:20:13,920 AND TESTING MULTIPLE MODELS TO 599 00:20:13,920 --> 00:20:15,240 FIND OUT WHAT WAS THE BEST WAY 600 00:20:15,240 --> 00:20:17,720 OF GOING ABOUT THIS. 601 00:20:17,720 --> 00:20:19,920 OUR CAESAR PROGRAM, CLINICAL 602 00:20:19,920 --> 00:20:20,760 SEQUENCING EVIDENCE GENERATING 603 00:20:20,760 --> 00:20:21,920 RESEARCH THEN MOVED A LITTLE BIT 604 00:20:21,920 --> 00:20:24,160 FURTHER TO THE RIGHT AND UPWARD 605 00:20:24,160 --> 00:20:28,320 INCLUDING A FOCUS ON OTHER 606 00:20:28,320 --> 00:20:28,920 STAKEHOLDERS, CLINICIANS AND 607 00:20:28,920 --> 00:20:29,320 LABS IN PARTICULAR. 608 00:20:29,320 --> 00:20:32,320 AND THEN THE ADDITION OF THE 609 00:20:32,320 --> 00:20:33,920 EMERGE AND IGNITE NETWORKS, 610 00:20:33,920 --> 00:20:36,320 IGNITE BEING A CLINICAL TRIAL 611 00:20:36,320 --> 00:20:37,960 PROGRAM, AND EMERGE FOCUSING 612 00:20:37,960 --> 00:20:39,640 CURRENTLY ON THIS PREDICTION 613 00:20:39,640 --> 00:20:41,920 REALLY MOVED MUCH MORE INTO 614 00:20:41,920 --> 00:20:44,000 EVIDENCE GENERATION THAN 615 00:20:44,000 --> 00:20:46,480 SYSTEM-WIDE IMPACT. 616 00:20:46,480 --> 00:20:48,680 OVERARCHING ALL OF THESE IS 617 00:20:48,680 --> 00:20:49,920 CLINGEN, AN INTERNATIONAL EFFORT 618 00:20:49,920 --> 00:20:52,920 OF OVER A THOUSAND INVESTIGATORS 619 00:20:52,920 --> 00:20:53,520 WORLDWIDE FOCUSED ON 620 00:20:53,520 --> 00:20:54,920 STANDARDIZED APPROACHES TO 621 00:20:54,920 --> 00:20:58,200 VARIANT CURE RANGE OF MOTION AND 622 00:20:58,200 --> 00:20:59,760 INTERPRETATION. 623 00:20:59,760 --> 00:21:01,240 FOCUSING DOWN NOW ON THE UDN, 624 00:21:01,240 --> 00:21:03,720 WHICH IS QUITE RELEVANT TO OUR 625 00:21:03,720 --> 00:21:05,080 DISCUSSION TODAY, THIS HAS 626 00:21:05,080 --> 00:21:06,720 ALWAYS BEEN QUITE 627 00:21:06,720 --> 00:21:07,240 PATIENT-FOCUSED. 628 00:21:07,240 --> 00:21:09,200 PATIENTS CAN APPLY DIRECTLY AND 629 00:21:09,200 --> 00:21:12,040 THERE ARE LINKS AND VAICTS IN 630 00:21:12,040 --> 00:21:14,680 ENGLISH AND VAIBILITIES 631 00:21:14,680 --> 00:21:19,520 IN ENGLISH 632 00:21:19,520 --> 00:21:23,120 AVAILABILITIES IN SPANISH AND 633 00:21:23,120 --> 00:21:23,360 ENGLISH. 634 00:21:23,360 --> 00:21:25,120 THE OFFICE OF RARE DISEASES 635 00:21:25,120 --> 00:21:26,760 RESEARCH THEN EXPANDED OUTWARD 636 00:21:26,760 --> 00:21:28,840 TO INCLUDE 12 OTHER SITES. 637 00:21:28,840 --> 00:21:31,960 SO A VERY ACTIVE PROGRAM AND 638 00:21:31,960 --> 00:21:34,520 EARLY IN THEIR EVOLUTION, THEY 639 00:21:34,520 --> 00:21:39,320 PUBLISHED A COUPLE OF PAPERS 640 00:21:39,320 --> 00:21:40,920 LOOKING AT THE FIRST 400 641 00:21:40,920 --> 00:21:41,960 PATIENTS THAT THEY HAD 642 00:21:41,960 --> 00:21:42,400 EVALUATED. 643 00:21:42,400 --> 00:21:43,800 OVER A THIRD RECEIVED DIAGNOSES 644 00:21:43,800 --> 00:21:47,120 AND THIS WAS IN 2019, SO IT'S A 645 00:21:47,120 --> 00:21:48,280 LITTLE BIT HIGHER THAN THAT 646 00:21:48,280 --> 00:21:49,280 SINCE THEN. 647 00:21:49,280 --> 00:21:49,840 THREE QUARTERS OF THOSE 648 00:21:49,840 --> 00:21:52,200 DIAGNOSES WERE MADE BY 649 00:21:52,200 --> 00:21:53,320 SEQUENCING, 21% LED TO 650 00:21:53,320 --> 00:21:55,040 RECOMMENDED CHANGES IN THERAPY, 651 00:21:55,040 --> 00:21:57,440 WELL OVER A THIRD TO CHANGES IN 652 00:21:57,440 --> 00:21:58,360 DIAGNOSTIC TESTING AND ABOUT THE 653 00:21:58,360 --> 00:22:01,280 SAME NUMBER TO VARIANT-SPECIFIC 654 00:22:01,280 --> 00:22:02,320 GENETIC COUNSELING. 655 00:22:02,320 --> 00:22:11,600 SO THIS HAD QUITE AN IMPACT. 656 00:22:11,600 --> 00:22:13,520 BUT ONE OF THE BIG CHALLENGES TO 657 00:22:13,520 --> 00:22:15,280 NOT ONLY IN THE UDN BUT IN 658 00:22:15,280 --> 00:22:20,280 GENETIC RESEARCH IN GENERAL AND 659 00:22:20,280 --> 00:22:21,560 MUCH OF MEDICAL RESEARCH IN THIS 660 00:22:21,560 --> 00:22:23,800 COUNTRY WAS THE VAST INEQUITY IN 661 00:22:23,800 --> 00:22:24,440 ANCESTRAL REPRESENTATION THAT 662 00:22:24,440 --> 00:22:27,040 YOU HEARD A LITTLE BIT ABOUT 663 00:22:27,040 --> 00:22:28,080 FROM CHESTER OF RESEARCH 664 00:22:28,080 --> 00:22:29,880 PARTICIPANTS COMPARED TO THE 665 00:22:29,880 --> 00:22:30,280 GLOBAL POPULATION. 666 00:22:30,280 --> 00:22:32,520 AND THIS IS SHOWING OVER TIME 667 00:22:32,520 --> 00:22:34,800 OVER THE PAST ROUGHLY 10 TO 15 668 00:22:34,800 --> 00:22:36,480 YEARS, EUROPEAN ANCESTRY 669 00:22:36,480 --> 00:22:37,600 INDIVIDUALS, AND THAT'S DEFINED 670 00:22:37,600 --> 00:22:41,520 IN A VARIETY OF WAYS, BUT AT ANY 671 00:22:41,520 --> 00:22:44,520 RATE, ARE CONSIDERABLY 672 00:22:44,520 --> 00:22:45,440 OVERREPRESENTED COMPARED TO 673 00:22:45,440 --> 00:22:47,080 THEIR PROPORTION IN THE 674 00:22:47,080 --> 00:22:48,360 POPULATION, ABOUT A SIXTH OF THE 675 00:22:48,360 --> 00:22:50,480 WORLD'S POPULATION, BUT YOU CAN 676 00:22:50,480 --> 00:22:53,040 SEE THEY'RE 80% OR MORE OF THE 677 00:22:53,040 --> 00:22:54,080 GROUP THAT HAS BEEN STUDIED IN 678 00:22:54,080 --> 00:22:56,920 THIS WAY. 679 00:22:56,920 --> 00:22:58,520 AND COMPARATIVELY MUCH, MUCH, 680 00:22:58,520 --> 00:23:00,240 MUCH LESS IN OTHER POPULATIONS, 681 00:23:00,240 --> 00:23:01,960 SOME OF WHICH DON'T EVEN SHOW UP 682 00:23:01,960 --> 00:23:03,480 ON THESE GRAPHS. 683 00:23:03,480 --> 00:23:06,120 SO THIS IS A MAJOR PROBLEM, WE 684 00:23:06,120 --> 00:23:08,080 ARE TRYING TO ADDRESS IT AT 685 00:23:08,080 --> 00:23:11,080 NHGRI AND OTHER PARTS OF NIH BY 686 00:23:11,080 --> 00:23:12,320 REQUIRING INCREASED 687 00:23:12,320 --> 00:23:15,920 REPRESENTATION OF UNDERSTUDIED 688 00:23:15,920 --> 00:23:18,920 GROUPS FOR RESEARCH QUESTIONS 689 00:23:18,920 --> 00:23:19,720 THAT PARTICULARLY ARE IMPORTANT 690 00:23:19,720 --> 00:23:22,040 TO TARGET THEM, WHICH IS MANY IF 691 00:23:22,040 --> 00:23:24,080 NOT MOST. 692 00:23:24,080 --> 00:23:26,040 AND WE HAVE RECOGNIZED THAT 693 00:23:26,040 --> 00:23:27,760 THERE ARE CRITICAL QUESTIONS 694 00:23:27,760 --> 00:23:28,880 THAT REMAIN IN CLINICAL 695 00:23:28,880 --> 00:23:30,520 SEQUENCING THAT WE'RE CONTINUING 696 00:23:30,520 --> 00:23:31,160 TO PURSUE. 697 00:23:31,160 --> 00:23:33,480 AMONG THEM, WHAT TECHNOLOGIES OR 698 00:23:33,480 --> 00:23:34,920 APPROACHES CAN IMPROVE THE RATE 699 00:23:34,920 --> 00:23:36,120 OF DIAGNOSIS AND DEVELOPMENT OF 700 00:23:36,120 --> 00:23:38,560 TREATMENT FOR UNDIAGNOSED AND 701 00:23:38,560 --> 00:23:39,040 RARE DISEASE PATIENTS. 702 00:23:39,040 --> 00:23:40,720 AS YOU SAW, WE STILL HAVE HALF 703 00:23:40,720 --> 00:23:41,920 TO TWO THIRDS OF THESE PATIENTS 704 00:23:41,920 --> 00:23:43,600 WHO DON'T GET AN INITIAL 705 00:23:43,600 --> 00:23:44,920 DIAGNOSIS FROM CLINICAL 706 00:23:44,920 --> 00:23:45,240 SEQUENCING. 707 00:23:45,240 --> 00:23:48,520 HOW DOES CLINICAL USAGE GINO 708 00:23:48,520 --> 00:23:55,080 IMAGINE -- AND IN IN LOW 709 00:23:55,080 --> 00:23:55,760 RESOURCE SETTINGS. 710 00:23:55,760 --> 00:23:57,720 WHAT'S THE IMPACT OF USING 711 00:23:57,720 --> 00:23:58,520 GENOMIC SEQUENCE INFORMATION TO 712 00:23:58,520 --> 00:23:59,760 PREDICT THE RISK OF COMMON 713 00:23:59,760 --> 00:24:01,560 DISEASES AND HOW CAN WE MAKE 714 00:24:01,560 --> 00:24:02,840 GENOME SEQUENCING DATA MOST 715 00:24:02,840 --> 00:24:03,520 READILY AVAILABLE TO PATIENTS 716 00:24:03,520 --> 00:24:05,600 AND CLINICIANS AS PATIENTS MOVE 717 00:24:05,600 --> 00:24:06,320 ACROSS DIFFERENT HEALTHCARE 718 00:24:06,320 --> 00:24:08,920 SYSTEMS AND THROUGHOUT THEIR 719 00:24:08,920 --> 00:24:09,920 LIVES? 720 00:24:09,920 --> 00:24:13,160 SO WITH THAT, I WILL STOP 721 00:24:13,160 --> 00:24:14,520 SHARING AND TURN IT OVER TO 722 00:24:14,520 --> 00:24:16,280 SUSIE WINGATE, WHO IS MOTHER AND 723 00:24:16,280 --> 00:24:18,800 PARENT ADVOCATE FOR HER SON 724 00:24:18,800 --> 00:24:21,640 HUDSON, WHO'S LIVING WITH A RARE 725 00:24:21,640 --> 00:24:23,440 GENETIC DISORDER CALLED 726 00:24:23,440 --> 00:24:25,480 RIBOFLAVIN TRANSPORTER DISORDER 727 00:24:25,480 --> 00:24:25,720 OR RTD. 728 00:24:25,720 --> 00:24:26,920 >> THANK YOU SO MUCH, TERRY. 729 00:24:26,920 --> 00:24:28,560 IT'S SUCH A PLEASURE TO BE HERE 730 00:24:28,560 --> 00:24:28,960 TODAY. 731 00:24:28,960 --> 00:24:31,360 I AM SUSIE WINGATE FROM 732 00:24:31,360 --> 00:24:31,840 SAN DIEGO, CALIFORNIA. 733 00:24:31,840 --> 00:24:33,360 I AM A FORMER SPECIAL EDUCATION 734 00:24:33,360 --> 00:24:35,000 TEACHER OF 16 YEARS AND NOW 735 00:24:35,000 --> 00:24:36,640 RUNNING MY OWN PROGRAM 736 00:24:36,640 --> 00:24:37,400 SUPPORTING INDIVIDUALS WITH 737 00:24:37,400 --> 00:24:38,840 DISABILITIES. 738 00:24:38,840 --> 00:24:40,800 I AM A WIFE TO MY HUSBAND ERIC 739 00:24:40,800 --> 00:24:42,560 AND THE PROUD MOM OF OUR 740 00:24:42,560 --> 00:24:44,400 BEAUTIFUL SON HUDSON. 741 00:24:44,400 --> 00:24:47,680 HUDSON WAS BORN ON 742 00:24:47,680 --> 00:24:48,120 DECEMBER 22ND, 2018. 743 00:24:48,120 --> 00:24:51,320 IT WAS A FULL TERM PREGNANCY. 744 00:24:51,320 --> 00:24:53,040 I HAD A NATURAL BIRTH WITH NO 745 00:24:53,040 --> 00:24:54,560 COMPLI 746 00:24:54,560 --> 00:24:55,320 COMPLICATIONS. 747 00:24:55,320 --> 00:24:56,640 HUDSON PASSED ALL OF HIS NEWBORN 748 00:24:56,640 --> 00:24:57,960 SCREENING TESTS, HE HAD ALL OF 749 00:24:57,960 --> 00:24:59,600 HIS VACCINES, HIS HEIGHT AND 750 00:24:59,600 --> 00:25:01,000 WEIGHT WERE IN THE AVERAGE 751 00:25:01,000 --> 00:25:02,000 PERCENTILE RANGE AND HE WAS 752 00:25:02,000 --> 00:25:04,720 HITTING ALL OF HIS MILESTONES ON 753 00:25:04,720 --> 00:25:07,360 TIME, AND SOME EVEN BEFORE 754 00:25:07,360 --> 00:25:08,200 EXPECTED. 755 00:25:08,200 --> 00:25:09,120 HIS FIRST YEAR OF LIFE WAS 756 00:25:09,120 --> 00:25:13,920 PERFECT. 757 00:25:13,920 --> 00:25:16,160 AT 13 MONTHS OLD, HUDSON STARTED 758 00:25:16,160 --> 00:25:17,800 HAVING DIFFICULTIES BREATHING. 759 00:25:17,800 --> 00:25:19,720 I TOOK HIM TO THE PEDIATRICIAN, 760 00:25:19,720 --> 00:25:21,720 WHO REFERRED US TO THE ENT, WHO 761 00:25:21,720 --> 00:25:24,160 HAD A PRIVATE PRACTICE. 762 00:25:24,160 --> 00:25:26,920 THE ENT SCOPED AND HUDSON WAS 763 00:25:26,920 --> 00:25:28,920 DIAGNOSED WITH VOCAL CORD 764 00:25:28,920 --> 00:25:29,160 PARALYSIS. 765 00:25:29,160 --> 00:25:30,880 WHAT WE DIDN'T KNOW WAS THE 766 00:25:30,880 --> 00:25:31,520 CAUSE OF THIS. 767 00:25:31,520 --> 00:25:34,040 SO WE WERE ADMITTED THE VERY 768 00:25:34,040 --> 00:25:36,880 NEXT DAY INTO CHILDREN'S 769 00:25:36,880 --> 00:25:37,120 HOSPITAL. 770 00:25:37,120 --> 00:25:39,720 HUDSON RECEIVED A MISDIAGNOSIS 771 00:25:39,720 --> 00:25:41,200 OF MYASTHENIA GRAVIS AT THE 772 00:25:41,200 --> 00:25:44,280 TIME, AND HE DID TWO ROUNDS OF 773 00:25:44,280 --> 00:25:44,480 IVIG. 774 00:25:44,480 --> 00:25:46,720 DURING HIS TIME, HUDSON LOST HIS 775 00:25:46,720 --> 00:25:48,680 ABILITY TO BREATHE ON HIS OWN, 776 00:25:48,680 --> 00:25:51,520 SWALLOW, WALK, TALK, PULL 777 00:25:51,520 --> 00:25:53,360 HIMSELF UP, AND HAD DRAMATIC 778 00:25:53,360 --> 00:25:54,480 WEIGHT LOSS. 779 00:25:54,480 --> 00:25:58,000 HE WENT FROM 12 MONTH CLOTHING 780 00:25:58,000 --> 00:25:59,280 DOWN TO 6 MONTH CLOTHING 781 00:25:59,280 --> 00:26:00,800 RAPIDLY. 782 00:26:00,800 --> 00:26:02,440 AFTER TWO ROUNDS OF IVIG, WE 783 00:26:02,440 --> 00:26:03,680 WERE TOLD THAT THERE WAS NOTHING 784 00:26:03,680 --> 00:26:05,320 MORE THAT COULD BE DONE, AND WE 785 00:26:05,320 --> 00:26:07,480 NEEDED TO LET THE MEDICINE TAKE 786 00:26:07,480 --> 00:26:08,480 ITS COURSE, AND WE WERE 787 00:26:08,480 --> 00:26:12,320 DISCHARGED FROM THE HOSPITAL. 788 00:26:12,320 --> 00:26:13,520 BUT IMMEDIATELY SENT BACK THE 789 00:26:13,520 --> 00:26:17,120 SAME DAY BY HUDSON'S OUTSIDE 790 00:26:17,120 --> 00:26:17,840 ENT. 791 00:26:17,840 --> 00:26:19,520 ONE WEEK LATER, HE HAD A 792 00:26:19,520 --> 00:26:22,680 BREATHING TUBE WHICH IS CALLED A 793 00:26:22,680 --> 00:26:23,840 TRACH INSERTED BECAUSE HE WAS 794 00:26:23,840 --> 00:26:24,760 UNABLE TO BREATHE ON HIS OWN. 795 00:26:24,760 --> 00:26:26,080 WE KNEW THAT WE DID NOT HAVE THE 796 00:26:26,080 --> 00:26:27,760 CORRECT DIAGNOSIS AND WE STARTED 797 00:26:27,760 --> 00:26:28,800 PUSHING FOR WHOLE GENOME 798 00:26:28,800 --> 00:26:32,360 SEQUENCING TO BE DONE. 799 00:26:32,360 --> 00:26:33,800 ON MARCH 2ND, 2020, THE BLOOD 800 00:26:33,800 --> 00:26:38,200 WAS DRAWN, AND 48 HOURS LATER WE 801 00:26:38,200 --> 00:26:41,560 RECEIVED THE RESULTS OF 802 00:26:41,560 --> 00:26:43,120 RIBOFLAVIN TRANSPORTER 803 00:26:43,120 --> 00:26:44,600 DEFICIENCY ALSO KNOWN AS RTD. 804 00:26:44,600 --> 00:26:45,920 THE NEW TREATMENT PLAN STARTED 805 00:26:45,920 --> 00:26:47,880 IMMEDIATELY AND WE NOTICED 806 00:26:47,880 --> 00:26:48,720 DRAMATIC IMPROVEMENTS RIGHT 807 00:26:48,720 --> 00:26:48,960 AWAY. 808 00:26:48,960 --> 00:26:50,520 HOWEVER, HUDSON WAS STILL HAVING 809 00:26:50,520 --> 00:26:51,520 DIFFICULTY SWALLOWING, SO WE 810 00:26:51,520 --> 00:26:53,040 MADE THE DECISION FOR HIM TO 811 00:26:53,040 --> 00:26:54,600 HAVE SURGERY TO GET A FEEDING 812 00:26:54,600 --> 00:26:56,320 TUBE FOR HIS NUTRITION AS WELL 813 00:26:56,320 --> 00:26:59,240 AS HIS MEDICATION. 814 00:26:59,240 --> 00:27:03,760 HUDSON WAS DISCHARGED ON 815 00:27:03,760 --> 00:27:04,920 MARCH 25TH, 2020. 816 00:27:04,920 --> 00:27:06,600 SINCE DISCHARGE, HUDSON HAS HAD 817 00:27:06,600 --> 00:27:07,920 THREE E.R. VISITS, FOUR MORE 818 00:27:07,920 --> 00:27:08,920 SURGERIES AND TWO MORE 819 00:27:08,920 --> 00:27:10,200 DIAGNOSES. 820 00:27:10,200 --> 00:27:12,160 AT THIS TIME, OUR NEXT STEPS ARE 821 00:27:12,160 --> 00:27:13,600 UNKNOWN. 822 00:27:13,600 --> 00:27:15,920 HOWEVER, WE KNOW THAT HE WILL 823 00:27:15,920 --> 00:27:17,880 HAVE MORE SCANS AND MORE 824 00:27:17,880 --> 00:27:18,120 SURGERIES. 825 00:27:18,120 --> 00:27:20,200 IN FACT, RIGHT NOW, HE IS AT THE 826 00:27:20,200 --> 00:27:22,080 HOSPITAL WITH MY HUSBAND, HAVING 827 00:27:22,080 --> 00:27:23,720 A CHEST SCAN AND A SCAN OF HIS 828 00:27:23,720 --> 00:27:24,800 DIAPHRAGM. 829 00:27:24,800 --> 00:27:27,520 WHEN I PUT THIS TIMELINE 830 00:27:27,520 --> 00:27:28,920 TOGETHER, IT REALLY HIT ME HARD 831 00:27:28,920 --> 00:27:31,800 BECAUSE I WAS LIKE, WOW, ALL OF 832 00:27:31,800 --> 00:27:33,120 THIS HAPPENED SO FAST, BUT IT 833 00:27:33,120 --> 00:27:34,960 LITERALLY FELT LIKE ETERNITY AS 834 00:27:34,960 --> 00:27:36,480 WE WERE WATCHING OUR SON SUFFER 835 00:27:36,480 --> 00:27:42,920 IN FRONT OF OUR EYES. 836 00:27:42,920 --> 00:27:45,040 SO THE EMOTIONAL AND FINANCIAL 837 00:27:45,040 --> 00:27:46,760 IMPACT THAT THIS HAD ON OUR 838 00:27:46,760 --> 00:27:48,480 FAMILY, WE HAVE BEEN IN COMPLETE 839 00:27:48,480 --> 00:27:49,360 SURVIVAL MODE. 840 00:27:49,360 --> 00:27:50,760 SOME DAYS I STILL FEEL LIKE WE 841 00:27:50,760 --> 00:27:51,560 ARE IN IT. 842 00:27:51,560 --> 00:27:54,600 WE HAD A LOT OF UNANSWERED 843 00:27:54,600 --> 00:27:55,240 QUESTIONS, ESPECIALLY THE FIRST 844 00:27:55,240 --> 00:27:57,760 MONTH WITH THE MISDIAGNOSIS. 845 00:27:57,760 --> 00:27:59,680 WE WERE WATCHING OUR SON, LIKE I 846 00:27:59,680 --> 00:28:00,840 SAID BEFORE, RAPIDLY DECLINE IN 847 00:28:00,840 --> 00:28:04,200 FRONT OF OUR EYES. 848 00:28:04,200 --> 00:28:05,680 THE UNKNOWN CAUSED SO MUCH 849 00:28:05,680 --> 00:28:07,400 TRAUMA AND STRESS TO ALL OF US. 850 00:28:07,400 --> 00:28:10,280 IT WAS A ROLLER COASTER RIDE OF 851 00:28:10,280 --> 00:28:11,800 EMOTIONS DUE TO THE 852 00:28:11,800 --> 00:28:15,240 UNCERTAINTIES, WHICH WERE VERY 853 00:28:15,240 --> 00:28:15,520 UNSETTLING. 854 00:28:15,520 --> 00:28:18,120 I HAD TO TAKE A LEAVE OF ABSENCE 855 00:28:18,120 --> 00:28:20,480 FROM TEACHING TO CARE FOR HUDSON 856 00:28:20,480 --> 00:28:22,360 FULL TIME, AND MY HUSBAND 857 00:28:22,360 --> 00:28:25,320 CONTINUED HIS JOB TO ENSURE ONE 858 00:28:25,320 --> 00:28:26,240 INCOME. 859 00:28:26,240 --> 00:28:27,640 HOURS UPON HOURS WERE SPENT 860 00:28:27,640 --> 00:28:28,520 TALKING WITH INSURANCE 861 00:28:28,520 --> 00:28:31,080 COMPANIES, DOCTORS, SPECIALISTS, 862 00:28:31,080 --> 00:28:35,360 VENDORS, STATE AGENCIES AND 863 00:28:35,360 --> 00:28:36,800 PROGRAMS AND I KNEW I NEEDED TO 864 00:28:36,800 --> 00:28:38,120 REST BUT I ALSO KNEW THAT OUR 865 00:28:38,120 --> 00:28:39,440 LIFE WAS FLIPPED UPSIDE-DOWN AND 866 00:28:39,440 --> 00:28:42,520 I HAD TO DO WHAT IT TOOK. 867 00:28:42,520 --> 00:28:43,560 IN-HOME NURSING CARE WAS HARD TO 868 00:28:43,560 --> 00:28:45,440 GET DUE TO COVID, AND THE LACK 869 00:28:45,440 --> 00:28:48,120 OF NURSES TRAINED TO CARE FOR 870 00:28:48,120 --> 00:28:50,880 PATIENT WITH TRACHS. 871 00:28:50,880 --> 00:28:53,120 OUR SUPPORT WAS AND CONTINUES TO 872 00:28:53,120 --> 00:28:54,520 BE LIMITED, SINCE WE DO NOT HAVE 873 00:28:54,520 --> 00:28:58,600 FAMILY THAT LIVES NEARBY AND 874 00:28:58,600 --> 00:29:00,320 ALSO WITH STILL THE SHORTAGE OF 875 00:29:00,320 --> 00:29:06,120 IN-HOME NURSING CARE. 876 00:29:06,120 --> 00:29:07,520 THE DIAGNOSIS. 877 00:29:07,520 --> 00:29:09,680 WELL, IT WAS RELIEVING. 878 00:29:09,680 --> 00:29:12,400 IT FINALLY GAVE US OUR ANSWER. 879 00:29:12,400 --> 00:29:15,120 THE ANSWER GAVE US SO MUCH HOPE. 880 00:29:15,120 --> 00:29:16,880 WE WERE ABLE TO FINALLY CONNECT 881 00:29:16,880 --> 00:29:19,240 WITH OTHER FAMILIES DEALING WITH 882 00:29:19,240 --> 00:29:21,760 RTD THROUGH THE CURE RTD 883 00:29:21,760 --> 00:29:22,120 FOUNDATION. 884 00:29:22,120 --> 00:29:24,560 IT HELPED US TREMENDOUSLY. 885 00:29:24,560 --> 00:29:25,520 WE COULD FINALLY REST KNOWING 886 00:29:25,520 --> 00:29:29,520 THAT OUR SON WAS GOING TO LIVE. 887 00:29:29,520 --> 00:29:32,040 GENOME SEQUENCING -- I 888 00:29:32,040 --> 00:29:32,360 APOLOGIZE. 889 00:29:32,360 --> 00:29:34,040 THERE IS PARTS OF HUDSON'S STORY 890 00:29:34,040 --> 00:29:36,200 THAT CHOKE ME UP STILL. 891 00:29:36,200 --> 00:29:39,960 BUT GENOME SEQUENCING AT 892 00:29:39,960 --> 00:29:40,800 CHILDREN'S HOSPITAL SAVED OUR 893 00:29:40,800 --> 00:29:41,560 SON'S LIFE. 894 00:29:41,560 --> 00:29:43,320 HIS TREATMENT PLAN WAS CHANGED 895 00:29:43,320 --> 00:29:44,600 AND WE NOTICED MEDIAL 896 00:29:44,600 --> 00:29:46,040 IMPROVEMENT. 897 00:29:46,040 --> 00:29:48,000 RTD IS AN ULTRA-RARE DISEASE 898 00:29:48,000 --> 00:29:51,000 THAT IS SIGNIFICANTLY 899 00:29:51,000 --> 00:29:52,080 UNDERDIAGNOSED AND/OR 900 00:29:52,080 --> 00:29:52,520 MISDIAGNOSED. 901 00:29:52,520 --> 00:29:55,400 THE TREATMENT IS AFFORDABLE AND 902 00:29:55,400 --> 00:29:56,080 READILY AVAILABLE, HOWEVER, IT 903 00:29:56,080 --> 00:29:58,040 HAS BEEN A CHALLENGE GETTING IT 904 00:29:58,040 --> 00:29:59,600 COVERED BY INSURANCE, SINCE ALL 905 00:29:59,600 --> 00:30:02,000 OF HIS MEDICATIONS ARE VITAMIN 906 00:30:02,000 --> 00:30:07,800 SUPPLEMENTS. 907 00:30:07,800 --> 00:30:10,080 COMPARISON AND THE FUTURE FOR 908 00:30:10,080 --> 00:30:10,320 HUDSON. 909 00:30:10,320 --> 00:30:11,400 WE ARE LUCKY TO BE IN THE RIGHT 910 00:30:11,400 --> 00:30:15,400 PLACE AT THE RIGHT TIME. 911 00:30:15,400 --> 00:30:16,480 MANY PEOPLE HAVE MENTIONED 912 00:30:16,480 --> 00:30:19,520 EARLIER THAT HEALTHCARE AT 913 00:30:19,520 --> 00:30:20,120 CERTAIN HOSPITALS ARE DIFFERENT 914 00:30:20,120 --> 00:30:23,040 THAN OTHERS. 915 00:30:23,040 --> 00:30:26,320 AND DIFFERENT AREAS ACROSS THE 916 00:30:26,320 --> 00:30:28,120 COUNTRY AND SO THIS MADE A HUGE 917 00:30:28,120 --> 00:30:31,840 DIFFERENCE BEING HERE WITH RADY 918 00:30:31,840 --> 00:30:33,240 CHIRP'S HOSPITAL WITH THE 919 00:30:33,240 --> 00:30:34,680 GENOMIC INSTITUTE RIGHT THERE, 920 00:30:34,680 --> 00:30:35,640 READILY AVAILABLE. 921 00:30:35,640 --> 00:30:37,480 AS WELL AS MY HUSBAND'S 922 00:30:37,480 --> 00:30:38,080 INSURANCE PLAN AT THE TIME, 923 00:30:38,080 --> 00:30:42,360 WHICH WAS PHENOMENAL. 924 00:30:42,360 --> 00:30:44,160 WE HAD A SUPER PROACTIVE TEAM, 925 00:30:44,160 --> 00:30:46,120 AND THE EARLY DIAGNOSIS REALLY 926 00:30:46,120 --> 00:30:49,880 HELPED HUDSON'S PROGRESS. 927 00:30:49,880 --> 00:30:51,200 WE WERE ULTRA AGGRESSIVE WITH 928 00:30:51,200 --> 00:30:52,480 THE TREATMENT FROM THE START 929 00:30:52,480 --> 00:30:53,720 ONCE HE WAS DIAGNOSED. 930 00:30:53,720 --> 00:30:54,920 HUDSON WAS ONE OF THE QUICKEST 931 00:30:54,920 --> 00:30:57,520 TO BE DIAGNOSED AND TREATED 932 00:30:57,520 --> 00:31:00,520 AMONGST OTHERS IN THE RTD 933 00:31:00,520 --> 00:31:00,800 COMMUNITY. 934 00:31:00,800 --> 00:31:03,120 HUDSON HAS A SEVERE MUTATION OF 935 00:31:03,120 --> 00:31:05,920 THE GENE, AND WE HAVE TO BE 936 00:31:05,920 --> 00:31:07,560 DILIGENT WITH EVERY LITTLE SIGN 937 00:31:07,560 --> 00:31:08,920 OR SYMPTOM WE NOTICE EACH AND 938 00:31:08,920 --> 00:31:12,680 EVERY DAY. 939 00:31:12,680 --> 00:31:13,920 THINGS CAN REMAIN STABLE FOR 940 00:31:13,920 --> 00:31:15,000 HUDSON WHILE OTHER AREAS CAN 941 00:31:15,000 --> 00:31:15,320 DECLINE. 942 00:31:15,320 --> 00:31:17,600 WE JUST NEVER KNOW WHAT OR WHEN. 943 00:31:17,600 --> 00:31:19,480 THE FUTURE IS UNKNOWN FOR HIM, 944 00:31:19,480 --> 00:31:24,400 AND OTHERS IN THE RTD COMMUNITY, 945 00:31:24,400 --> 00:31:25,520 BUT THERE'S CONTINUED RESEARCH 946 00:31:25,520 --> 00:31:26,600 BEING DONE WITH HOPES TO FIND A 947 00:31:26,600 --> 00:31:27,760 CURE. 948 00:31:27,760 --> 00:31:29,600 THE BIGGEST POINT I WOULD LIKE 949 00:31:29,600 --> 00:31:31,520 EVERYONE TO KNOW AND TAKE AWAY 950 00:31:31,520 --> 00:31:33,800 FROM THIS IS EARLY INTERVENTION 951 00:31:33,800 --> 00:31:35,280 AND DIAGNOSIS IS THE NUMBER ONE 952 00:31:35,280 --> 00:31:38,000 WAY TO SAVE LIVES. 953 00:31:38,000 --> 00:31:40,360 AND ALSO PREVENT IN MOST CASES 954 00:31:40,360 --> 00:31:42,520 SEVERE SYMPTOMS FROM OCCURRING. 955 00:31:42,520 --> 00:31:43,960 GENOME SEQUENCING DID THAT FOR 956 00:31:43,960 --> 00:31:46,120 OUR SON, AND IT NEEDS TO BE THE 957 00:31:46,120 --> 00:31:51,520 FIRST TOOL USED AND OFFERED TO 958 00:31:51,520 --> 00:31:51,800 FAMILIES. 959 00:31:51,800 --> 00:31:52,680 THANK YOU VERY MUCH FOR HAVING 960 00:31:52,680 --> 00:31:53,440 ME HERE TODAY. 961 00:31:53,440 --> 00:31:55,720 IT HAS BEEN A PRIVILEGE TO SHARE 962 00:31:55,720 --> 00:31:56,600 HUDSON'S STORY. 963 00:31:56,600 --> 00:32:00,120 I NOW HAVE THE HONOR TO 964 00:32:00,120 --> 00:32:01,440 INTRODUCE DR. STEPHEN KINGSMORE, 965 00:32:01,440 --> 00:32:03,200 BUT BEFORE I FORGET TO INTRODUCE 966 00:32:03,200 --> 00:32:04,720 HIM, THERE ARE A COUPLE MORE 967 00:32:04,720 --> 00:32:07,520 SLIDES OF PICTURES OF HUDSON, IF 968 00:32:07,520 --> 00:32:08,920 YOU DON'T MIND GOING TO THE NEXT 969 00:32:08,920 --> 00:32:11,280 SLIDE OR TWO, JUST TO SEE WHERE 970 00:32:11,280 --> 00:32:13,720 HE WAS AND WHERE HE IS TODAY. 971 00:32:13,720 --> 00:32:16,480 IT'S HARD TO CHOOSE PICTURES OF 972 00:32:16,480 --> 00:32:17,720 HIM BECAUSE HE'S JUST SO DARN 973 00:32:17,720 --> 00:32:20,040 CUTE. 974 00:32:20,040 --> 00:32:21,720 BUT DR. STEPHEN KINGSMORE IS THE 975 00:32:21,720 --> 00:32:25,520 PRESIDENT AND CEO OF RADY'S 976 00:32:25,520 --> 00:32:26,400 GENOMIC INSTITUTE, AND BECAUSE 977 00:32:26,400 --> 00:32:27,960 OF HIM AND HIS TEAM, OUR SON'S 978 00:32:27,960 --> 00:32:28,640 LIFE WAS SAVED. 979 00:32:28,640 --> 00:32:30,360 THANK YOU VERY MUCH, 980 00:32:30,360 --> 00:32:38,120 DR. KINGSMORE. 981 00:32:38,120 --> 00:32:40,040 >> THANK YOU, SUSIE. 982 00:32:40,040 --> 00:32:40,920 WHAT A FANTASTIC STORY. 983 00:32:40,920 --> 00:32:42,320 THANK YOU SO MUCH FOR SHARING 984 00:32:42,320 --> 00:32:46,360 THAT WITH US. 985 00:32:46,360 --> 00:32:48,600 IT'S BEEN POSSIBLE NOW TO DECODE 986 00:32:48,600 --> 00:32:49,960 A HUMAN GENOME AND MAKE A 987 00:32:49,960 --> 00:32:51,920 DIAGNOSIS IN THREE DAYS FOR 10 988 00:32:51,920 --> 00:32:52,120 YEARS. 989 00:32:52,120 --> 00:32:54,760 DID YOU KNOW THAT DESPITE THIS, 990 00:32:54,760 --> 00:32:58,560 THE AVERAGE FAMILY TODAY HAS TO 991 00:32:58,560 --> 00:33:02,000 WAIT 4.8 YEARS FOR A GENETIC 992 00:33:02,000 --> 00:33:07,040 DISEASE DIAGNOSIS. 993 00:33:07,040 --> 00:33:08,760 BECAUSE OF STORIES LIKE THAT 994 00:33:08,760 --> 00:33:11,200 WHICH SUSIE JUST SHARED WITH US, 995 00:33:11,200 --> 00:33:13,760 THE CALIFORNIA LEGISLATURE ASKED 996 00:33:13,760 --> 00:33:16,280 OUR INSTITUTE TO EXAMINE WHETHER 997 00:33:16,280 --> 00:33:19,200 HUDSON'S STORY COULD BE 998 00:33:19,200 --> 00:33:20,200 GENERALIZED, COULD THIS BE 999 00:33:20,200 --> 00:33:21,520 IMPLEMENTED ACROSS THE STATE. 1000 00:33:21,520 --> 00:33:25,360 AND SO WE EXAMINED RAPID 1001 00:33:25,360 --> 00:33:28,000 DIAGNOSTIC GENOME SEQUENCING IN 1002 00:33:28,000 --> 00:33:29,240 184 BABIES IN INTENSIVE CARE 1003 00:33:29,240 --> 00:33:30,400 UNITS. 1004 00:33:30,400 --> 00:33:34,000 ALL OF THE BABIES WERE MEDICAID 1005 00:33:34,000 --> 00:33:34,960 BENEFICIARIES. 1006 00:33:34,960 --> 00:33:37,360 WE FOUND THREE THINGS IN PROJECT 1007 00:33:37,360 --> 00:33:38,040 BABY BEAR. 1008 00:33:38,040 --> 00:33:40,520 FIRST OF ALL, WE COULD REDUCE 1009 00:33:40,520 --> 00:33:42,960 THE AVERAGE DIAGNOSTIC ODYSSEY 1010 00:33:42,960 --> 00:33:45,560 FROM 4.8 YEARS TO THREE DAYS. 1011 00:33:45,560 --> 00:33:49,320 SECOND OF ALL, THE NET COST OF 1012 00:33:49,320 --> 00:33:55,360 DOING THIS IN 184 BABIES WAS 1013 00:33:55,360 --> 00:33:55,920 NEGATIVE $2.5 MILLION FOR 1014 00:33:55,920 --> 00:33:56,920 MEDICAID. 1015 00:33:56,920 --> 00:34:00,120 AND THIRDLY, BABIES SPENT LESS 1016 00:34:00,120 --> 00:34:02,400 TIME IN HOSPITAL AND AVOIDED 1017 00:34:02,400 --> 00:34:04,800 UNNECESSARY SURGERIES. 1018 00:34:04,800 --> 00:34:07,240 OVERALL, THEIR CARE WAS BETTER. 1019 00:34:07,240 --> 00:34:09,640 43% OF BABIES RECEIVED A 1020 00:34:09,640 --> 00:34:11,440 DIAGNOSIS, AND MANAGEMENT WAS 1021 00:34:11,440 --> 00:34:13,920 MORE TARGETED AND MORE EFFECTIVE 1022 00:34:13,920 --> 00:34:20,600 IN 31%. 1023 00:34:20,600 --> 00:34:21,360 WE DIDN'T STOP THERE. 1024 00:34:21,360 --> 00:34:22,760 WE WENT ON TO LOOK AT A LARGER 1025 00:34:22,760 --> 00:34:26,960 GROUP OF BABIES, ALSO MEDICAID 1026 00:34:26,960 --> 00:34:28,320 BENEFICIARIES, AND FOR A LONGER 1027 00:34:28,320 --> 00:34:32,520 PERIOD OF FOLLOW-UP, FIVE YEARS. 1028 00:34:32,520 --> 00:34:33,920 WHAT WE FOUND WAS THAT THE 1029 00:34:33,920 --> 00:34:35,080 BENEFITS DON'T JUST STOP WITH 1030 00:34:35,080 --> 00:34:36,400 THAT FIRST HOSPITALIZATION. 1031 00:34:36,400 --> 00:34:40,920 IN FACT, WE FOUND ALMOST 100 1032 00:34:40,920 --> 00:34:42,480 ADDITIONAL QUALITY ADJUSTED LIFE 1033 00:34:42,480 --> 00:34:46,080 YEARS WAS ADDED TO THOSE 325 1034 00:34:46,080 --> 00:34:49,080 BABIES. 1035 00:34:49,080 --> 00:34:51,720 AND 64% OF THE ONGOING COSTS OF 1036 00:34:51,720 --> 00:34:55,120 CARE WERE ELIMINATED AS A RESULT 1037 00:34:55,120 --> 00:34:57,920 OF RAPID DIAGNOSTIC WHOLE GENOME 1038 00:34:57,920 --> 00:35:03,800 SEQUENCING. 1039 00:35:03,800 --> 00:35:05,480 THERE ARE NOW 31 PUBLISHED 1040 00:35:05,480 --> 00:35:08,840 STUDIES THAT SHOW THAT THIS IS 1041 00:35:08,840 --> 00:35:10,040 GENERALIZABLE. 1042 00:35:10,040 --> 00:35:11,600 RAPID GENOMIC SEQUENCING FOR 1043 00:35:11,600 --> 00:35:16,680 DIAGNOSIS OF A GENETIC DISEASE, 1044 00:35:16,680 --> 00:35:18,720 ON AVERAGE, YIELDED A DIAGNOSIS 1045 00:35:18,720 --> 00:35:22,000 IN OVER A THIRD OF BABIES 1046 00:35:22,000 --> 00:35:25,480 TESTED, AND THIS IS AN 1047 00:35:25,480 --> 00:35:29,480 UNPRECEDENTED NUMBER, IMPROVED 1048 00:35:29,480 --> 00:35:32,920 OUTCOMES IN FULLY 18%. 1049 00:35:32,920 --> 00:35:35,040 THIS IS THE EXCITING SLIDE. 1050 00:35:35,040 --> 00:35:38,960 AS A RESULT OF THIS EVIDENCE, 1051 00:35:38,960 --> 00:35:40,480 ANTHEM BLUE CROSS/BLUE SHIELD 1052 00:35:40,480 --> 00:35:42,800 BECAME THE FIRST MAJOR PAYOR 1053 00:35:42,800 --> 00:35:45,200 NATIONWIDE TO HAVE A POLICY, A 1054 00:35:45,200 --> 00:35:48,160 COVERAGE POLICY FOR RAPID 1055 00:35:48,160 --> 00:35:49,440 DIAGNOSTIC GENOMIC SEQUENCING, 1056 00:35:49,440 --> 00:35:50,520 AND TO REIMBURSE THE COST OF 1057 00:35:50,520 --> 00:35:52,320 CARE. 1058 00:35:52,320 --> 00:35:54,000 THE OUT OF POCKET COST FOR 1059 00:35:54,000 --> 00:35:56,240 PARENTS. 1060 00:35:56,240 --> 00:35:59,080 THAT'S NOW BEEN RATIFIED ACROSS 1061 00:35:59,080 --> 00:36:00,520 11 BLUES PLANS. 1062 00:36:00,520 --> 00:36:02,560 AND THEN STARTING ABOUT A YEAR 1063 00:36:02,560 --> 00:36:05,600 AGO, WE NOW HAVE SIX STATES WHO 1064 00:36:05,600 --> 00:36:07,080 HAVE MEDICAID POLICIES TO 1065 00:36:07,080 --> 00:36:11,320 PROVIDE THE SAME COVERAGE TO 1066 00:36:11,320 --> 00:36:12,600 INFANTS AND CHILDREN IN 1067 00:36:12,600 --> 00:36:14,320 INTENSIVE CARE UNITS, AND WE 1068 00:36:14,320 --> 00:36:18,720 HAVE THREE STATES WHO ARE 1069 00:36:18,720 --> 00:36:19,840 COVERING THE OUT OF POCKET TESTS 1070 00:36:19,840 --> 00:36:20,920 FOR PARENTS. 1071 00:36:20,920 --> 00:36:22,640 THIS IS HUGELY EXCITING 1072 00:36:22,640 --> 00:36:24,920 PROGRESS. 1073 00:36:24,920 --> 00:36:27,920 I'D NOW LIKE TO INTRODUCE 1074 00:36:27,920 --> 00:36:29,280 DR. BRUCE KORF. 1075 00:36:29,280 --> 00:36:31,920 HE'S THE CHIEF GENOMICS OFFICER 1076 00:36:31,920 --> 00:36:34,320 AT THE UNIVERSITY OF ALABAMA IN 1077 00:36:34,320 --> 00:36:35,520 BIRMINGHAM SCHOOL OF MEDICINE, 1078 00:36:35,520 --> 00:36:38,760 AND CO-DIRECTOR OF THE UAB 1079 00:36:38,760 --> 00:36:40,040 HUDSON ALPHA CENTER FOR GENOMIC 1080 00:36:40,040 --> 00:36:42,240 MEDICINE. 1081 00:36:42,240 --> 00:36:43,600 >> GREAT, STEPHEN, THANK YOU. 1082 00:36:43,600 --> 00:36:50,600 I'M GOING TO SHARE MY SCREEN. 1083 00:36:50,600 --> 00:36:51,960 I'M GOING TO AMPLIFY MANY OF THE 1084 00:36:51,960 --> 00:36:53,320 POINTS THAT YOU'VE ALREADY 1085 00:36:53,320 --> 00:36:57,000 HEARD, AND LET ME START WITH 1086 00:36:57,000 --> 00:36:59,520 REITERATING THE VALUE OF A 1087 00:36:59,520 --> 00:37:00,080 GENETIC DIAGNOSIS. 1088 00:37:00,080 --> 00:37:02,760 AND I REALLY CAN'T BEAT THE 1089 00:37:02,760 --> 00:37:05,120 STORY THAT SUSIE TOLD IN TERMS 1090 00:37:05,120 --> 00:37:06,880 OF FIRST OF ALL AVOIDING 1091 00:37:06,880 --> 00:37:10,480 UNNECESSARY TESTING THAT WILL BE 1092 00:37:10,480 --> 00:37:11,920 UNPRODUCTIVE, PROVIDING GUIDANCE 1093 00:37:11,920 --> 00:37:13,600 FOR SURVEILLANCE AND MANAGEMENT 1094 00:37:13,600 --> 00:37:16,640 OF A PERSON'S CONDITION. 1095 00:37:16,640 --> 00:37:18,400 IN SOME CASES, AS YOU'VE ALREADY 1096 00:37:18,400 --> 00:37:19,560 HEARD, TARGETED TREATMENT, AND 1097 00:37:19,560 --> 00:37:20,960 THE ABILITY ALSO TO PROVIDE 1098 00:37:20,960 --> 00:37:23,360 GENETIC COUNSELING TO FAMILIES. 1099 00:37:23,360 --> 00:37:25,080 AND AS YOU HEARD EARLIER, 1100 00:37:25,080 --> 00:37:26,640 THERE'S ALSO A CONCEPT OF 1101 00:37:26,640 --> 00:37:29,320 PERSONAL UTILITY TO ANTICIPATE 1102 00:37:29,320 --> 00:37:31,240 THE FUTURE NEEDS OF AN 1103 00:37:31,240 --> 00:37:33,720 INDIVIDUAL WITH A GENETIC 1104 00:37:33,720 --> 00:37:34,840 CONDITION, TO INFORM FAMILY 1105 00:37:34,840 --> 00:37:36,400 PLANNING, IN MANY CASES TO 1106 00:37:36,400 --> 00:37:37,280 ASSUAGE GUILT BECAUSE YOU NOW 1107 00:37:37,280 --> 00:37:41,160 KNOW WHAT ACTUALLY HAPPENED, NOT 1108 00:37:41,160 --> 00:37:42,080 SOME OF THE THINGS THAT YOU 1109 00:37:42,080 --> 00:37:42,960 FEARED MIGHT HAVE HAPPENED. 1110 00:37:42,960 --> 00:37:44,840 AND THERE IS, I THINK, A PEACE 1111 00:37:44,840 --> 00:37:46,120 OF MIND FROM KNOWING, EVEN IF 1112 00:37:46,120 --> 00:37:48,200 IT'S NOT CURRENTLY POSSIBLE 1113 00:37:48,200 --> 00:37:51,920 ALWAYS TO TREAT A CONDITION. 1114 00:37:51,920 --> 00:37:53,440 SO I'LL MAKE THREE SPECIFIC 1115 00:37:53,440 --> 00:37:53,960 POINTS. 1116 00:37:53,960 --> 00:37:54,960 THE FIRST IS THAT GENOME 1117 00:37:54,960 --> 00:37:56,960 SEQUENCING CAN SAVE MONEY IN 1118 00:37:56,960 --> 00:37:58,840 ENDING THE DIAGNOSTIC ODYSSEY, A 1119 00:37:58,840 --> 00:38:00,440 POINT THAT STEPHEN ALSO JUST 1120 00:38:00,440 --> 00:38:00,640 MADE. 1121 00:38:00,640 --> 00:38:03,920 THIS IS A PEAB BABY WE SAW IN THE 1122 00:38:03,920 --> 00:38:05,400 NEWBORN NURSERY AT UAB AS PART 1123 00:38:05,400 --> 00:38:09,040 OF OUR SOUTHSEQ PROJECT, PART OF 1124 00:38:09,040 --> 00:38:10,440 THE CLINICAL SEQUENCING EVIDENCE 1125 00:38:10,440 --> 00:38:13,520 GENERATING RESEARCH CONSORTIUM 1126 00:38:13,520 --> 00:38:14,480 TERI SPOKE ABOUT EARLIER. 1127 00:38:14,480 --> 00:38:15,880 THIS CHILD HAD MULTIPLE MEDICAL 1128 00:38:15,880 --> 00:38:16,280 PROBLEMS. 1129 00:38:16,280 --> 00:38:24,600 YOU CAN SEE THE TRACH YOS TRACH YOS TRACH EOSTOMY, 1130 00:38:24,600 --> 00:38:26,000 PROBLEMS BREATHING AND UNSTABLE 1131 00:38:26,000 --> 00:38:27,120 HEART RATE. 1132 00:38:27,120 --> 00:38:28,840 HAD MULTIPLE GENETIC TESTS NOT 1133 00:38:28,840 --> 00:38:31,080 TO MENTION OTHER TESTS LIKE MRI 1134 00:38:31,080 --> 00:38:32,720 SCANS, FOR EXAMPLE, NO DIAGNOSIS 1135 00:38:32,720 --> 00:38:34,480 ESTABLISHED, THOUSANDS OF 1136 00:38:34,480 --> 00:38:36,240 DOLLARS THAT WERE REALLY 1137 00:38:36,240 --> 00:38:37,000 UNPRODUCTIVE. 1138 00:38:37,000 --> 00:38:38,840 AND THEN HAD GENOME SEQUENCING, 1139 00:38:38,840 --> 00:38:41,640 AND IT REVEALED THE UNDERLYING 1140 00:38:41,640 --> 00:38:43,720 DIAGNOSIS, WHICH IS GENETICALLY 1141 00:38:43,720 --> 00:38:45,520 DETERMINED CONGENITAL PROBLEM IN 1142 00:38:45,520 --> 00:38:47,080 THE FORMATION OF NERVES THAT 1143 00:38:47,080 --> 00:38:48,920 CAUSES VERY SEVERE MUSCLE 1144 00:38:48,920 --> 00:38:50,720 WEAKNESS AND RESPIRATORY 1145 00:38:50,720 --> 00:38:52,000 PROBLEMS, AMONG OTHER PROBLEMS, 1146 00:38:52,000 --> 00:38:55,360 AND UNFORTUNATELY, NOT CURRENTLY 1147 00:38:55,360 --> 00:38:58,280 AMENABLE TO TREATMENT, BUT WITH 1148 00:38:58,280 --> 00:39:00,320 A 25% RISK OF RECURRENCE IN 1149 00:39:00,320 --> 00:39:03,080 FUTURE REG PREGNANCIES, A CRITICALLY 1150 00:39:03,080 --> 00:39:04,000 IMPORTANT POINT FOR THE FAMILY 1151 00:39:04,000 --> 00:39:04,320 TO UNDERSTAND. 1152 00:39:04,320 --> 00:39:07,240 I WOULD DARE SAY THAT THE COST 1153 00:39:07,240 --> 00:39:09,000 OF ONE MRI SCAN, WHICH WAS PART 1154 00:39:09,000 --> 00:39:10,520 OF THE UNPRODUCTIVE WORKUP, 1155 00:39:10,520 --> 00:39:14,000 EXCEEDED THE COST OF THE GENOME 1156 00:39:14,000 --> 00:39:15,720 SEQUENCING. 1157 00:39:15,720 --> 00:39:16,320 THE SECOND POINT WHICH YOU'VE 1158 00:39:16,320 --> 00:39:18,040 ALSO HEARD FROM SUSIE IS THAT 1159 00:39:18,040 --> 00:39:20,240 GENOME SEQUENCING CAN CHANGE 1160 00:39:20,240 --> 00:39:23,160 TREATMENT. 1161 00:39:23,160 --> 00:39:26,120 THIS IS A SHOT OF PART OF THE 1162 00:39:26,120 --> 00:39:29,320 SKIN OF A WOMAN WHO HAD THIS 1163 00:39:29,320 --> 00:39:30,560 DISFIGURING SKIN DISORDER THAT 1164 00:39:30,560 --> 00:39:33,280 BEGAN IN CHILDHOOD, SO SHE HAD 1165 00:39:33,280 --> 00:39:36,440 BEEN LIVING WITH THIS FOR 1166 00:39:36,440 --> 00:39:38,920 DECADES, HAD MULTIPLE TESTS DONE 1167 00:39:38,920 --> 00:39:40,720 TO TRY TO ESTABLISH AN 1168 00:39:40,720 --> 00:39:44,120 UNDERLYING DIAGNOSIS WITH NO 1169 00:39:44,120 --> 00:39:44,360 ANSWERS. 1170 00:39:44,360 --> 00:39:46,720 WAS ENROLLED IN THE UAB 1171 00:39:46,720 --> 00:39:48,120 UNDIAGNOSED DISEASES PROGRAM, 1172 00:39:48,120 --> 00:39:50,240 HAD GENOME SEQUENCING, IT 1173 00:39:50,240 --> 00:39:54,520 REVEALED A VARIANT IN THE EGF 1174 00:39:54,520 --> 00:39:55,800 RECEPTOR, A PROTEIN THAT IS 1175 00:39:55,800 --> 00:39:58,760 INVOLVED IN CELL SIGNALING. 1176 00:39:58,760 --> 00:40:01,280 AND IT TURNED OUT THAT THERE ARE 1177 00:40:01,280 --> 00:40:04,920 ALREADY DRUGS THAT EXIST THAT 1178 00:40:04,920 --> 00:40:06,000 INHIBIT THIS RECEPTOR, AND WE 1179 00:40:06,000 --> 00:40:08,320 WERE ABLE TO COMPOUND ONE OF 1180 00:40:08,320 --> 00:40:11,960 THESE DRUGS AS A TOPICAL 1181 00:40:11,960 --> 00:40:14,040 TREATMENT, AND THE CONTROL WAS 1182 00:40:14,040 --> 00:40:16,840 LESS SEVERELY PART OF HER RIGHT 1183 00:40:16,840 --> 00:40:18,920 ARM NEAR THE ELBOW, AND THE TEST 1184 00:40:18,920 --> 00:40:19,400 WAS ON THE LEFT. 1185 00:40:19,400 --> 00:40:22,520 AND I THINK YOU CAN SEE THERE 1186 00:40:22,520 --> 00:40:23,520 WAS A SIGNIFICANT DIFFERENCE 1187 00:40:23,520 --> 00:40:25,280 THAT WE WERE ABLE TO ACTUALLY 1188 00:40:25,280 --> 00:40:26,720 EFFECT A TREATMENT THAT WE WOULD 1189 00:40:26,720 --> 00:40:28,080 NOT IN A MILLION YEARS HAVE 1190 00:40:28,080 --> 00:40:29,920 THOUGHT OF IF IT WEREN'T FOR THE 1191 00:40:29,920 --> 00:40:31,480 GENOME SEQUENCING. 1192 00:40:31,480 --> 00:40:34,640 THEN THE THIRD POINT IS THAT 1193 00:40:34,640 --> 00:40:36,520 GENOME SEQUENCING IN THE CLINIC 1194 00:40:36,520 --> 00:40:37,960 OFTEN RESULTS IN DISCOVERY OF 1195 00:40:37,960 --> 00:40:40,080 NEW GENETIC DISORDERS THAT 1196 00:40:40,080 --> 00:40:43,880 WEREN'T PREVIOUSLY KNOWN TO 1197 00:40:43,880 --> 00:40:44,200 EXIST. 1198 00:40:44,200 --> 00:40:45,440 SO THIS IS A CHILD ALSO SEEN IN 1199 00:40:45,440 --> 00:40:47,320 THE UAB UNDIAGNOSED DISEASES 1200 00:40:47,320 --> 00:40:50,440 PROGRAM WITH SEVERE INTELLECTUAL 1201 00:40:50,440 --> 00:40:52,520 DISABILITY, ALSO WAS ON A 1202 00:40:52,520 --> 00:40:54,560 DIAGNOSTIC ODYSSEY, IN FACT, WE 1203 00:40:54,560 --> 00:40:58,000 FIRST SAW HIM IN ABOUT 2013, AND 1204 00:40:58,000 --> 00:40:59,640 WE WEREN'T ABLE TO MAKE A 1205 00:40:59,640 --> 00:41:01,160 DIAGNOSIS AND CERTAINLY DID LOTS 1206 00:41:01,160 --> 00:41:05,640 OF THINGS TO TRY TRY. 1207 00:41:05,640 --> 00:41:12,160 UMENT IT REVEALED A VARIANT IN A GENE 1208 00:41:12,160 --> 00:41:12,880 CALLED AG01 THAT HAD NEVER BEEN 1209 00:41:12,880 --> 00:41:14,000 SEEN BEFORE, NOBODY HAD EVER 1210 00:41:14,000 --> 00:41:16,680 REPORTED A VARIANT IN THIS GENE 1211 00:41:16,680 --> 00:41:17,560 CAUSING ANY PARTICULAR MEDICAL 1212 00:41:17,560 --> 00:41:18,680 PROBLEM. 1213 00:41:18,680 --> 00:41:21,320 WE PUT THE INFORMATION INTO A 1214 00:41:21,320 --> 00:41:24,200 DATABASE CALLED GENE MATCHER, 1215 00:41:24,200 --> 00:41:26,920 WHERE PEOPLE PUT GENETIC 1216 00:41:26,920 --> 00:41:28,280 INFORMATION THAT CAN BE SEEN BY 1217 00:41:28,280 --> 00:41:30,000 OTHER RESEARCHERS AND CLINICIANS 1218 00:41:30,000 --> 00:41:33,080 AROUND THE WORLD, AND IF 1219 00:41:33,080 --> 00:41:35,160 SOMEBODY ELSE SOMEWHERE ELSE HAS 1220 00:41:35,160 --> 00:41:37,360 A PATIENT WITH A SIMILAR KIND OF 1221 00:41:37,360 --> 00:41:38,560 GENETIC VARIANT OR VARIANT IN 1222 00:41:38,560 --> 00:41:42,240 THE SAME GENE, IT LINKS YOU 1223 00:41:42,240 --> 00:41:44,080 TOGETHER BY EMAIL AND YOU CAN 1224 00:41:44,080 --> 00:41:44,640 COMPARE NOTES. 1225 00:41:44,640 --> 00:41:47,920 THE OUTCOME WAS THERE WERE OVER 1226 00:41:47,920 --> 00:41:49,680 20 INDIVIDUALS WITH 1227 00:41:49,680 --> 00:41:50,880 AG01 PATHOGENIC VARIANTS, OUR 1228 00:41:50,880 --> 00:41:53,720 PATIENT IS SHOWN HERE AS CASE 1229 00:41:53,720 --> 00:41:54,000 NUMBER 21. 1230 00:41:54,000 --> 00:41:56,720 THIS IS A PUBLISHED CASE NOW 1231 00:41:56,720 --> 00:41:58,680 ESTABLISHING A NEW GENETIC 1232 00:41:58,680 --> 00:41:59,760 CONDITION THAT WAS PREVIOUSLY 1233 00:41:59,760 --> 00:42:06,320 NOT KNOWN TO EXIST. 1234 00:42:06,320 --> 00:42:09,520 MAY ASK HOW OFTEN DOES 1235 00:42:09,520 --> 00:42:11,760 SEQUENCING RESULT IN DIAGNOSIS? 1236 00:42:11,760 --> 00:42:13,920 WE HAVE A COLLABORATION WITH 1237 00:42:13,920 --> 00:42:16,800 HUDSON ALPHA INSTITUTE FOR 1238 00:42:16,800 --> 00:42:18,000 BIOTECHNOLOGY IN HUNTSVILLE 1239 00:42:18,000 --> 00:42:19,520 WHERE THE SEQUENCING IS DONE. 1240 00:42:19,520 --> 00:42:21,520 SO 22% WOULD GET A DIAGNOSIS OF 1241 00:42:21,520 --> 00:42:23,560 A PATHOGENIC OR LIKELY 1242 00:42:23,560 --> 00:42:26,000 PATHOGENIC VARIANT IN THIS 1243 00:42:26,000 --> 00:42:27,720 RESEARCH PROGRAM, AND 1244 00:42:27,720 --> 00:42:28,920 SUBSTANTIAL NUMBER HAD VARIANTS 1245 00:42:28,920 --> 00:42:30,720 OF UNKNOWN SIGNIFICANCE THAT ARE 1246 00:42:30,720 --> 00:42:35,840 STILL UNDER STUDIED AND ARE 1247 00:42:35,840 --> 00:42:36,520 POSSIBLE CANDIDATE. 1248 00:42:36,520 --> 00:42:38,120 YOU'LL SEE ESTIMATES OF THE 1249 00:42:38,120 --> 00:42:39,680 LIKELIHOOD OF A DIAGNOSIS, I'D 1250 00:42:39,680 --> 00:42:42,760 SAY, FOR ABOUT 25 TO OVER 50%, 1251 00:42:42,760 --> 00:42:44,760 MUCH DEPENDS ON THE INDICATIONS 1252 00:42:44,760 --> 00:42:48,400 FOR TESTING IN THE FIRST PLACE. 1253 00:42:48,400 --> 00:42:49,320 BUT REMEMBER, EVERYBODY ENROLLED 1254 00:42:49,320 --> 00:42:50,720 IN THIS HAD ALREADY BEEN THROUGH 1255 00:42:50,720 --> 00:42:53,720 A DIAGNOSTIC ODYSSEY, HAVING 1256 00:42:53,720 --> 00:42:54,600 UNPRODUCTIVE TESTS. 1257 00:42:54,600 --> 00:42:57,080 SO THE FACT THAT YOU COULD MAKE 1258 00:42:57,080 --> 00:43:00,800 A DIAGNOSIS BY SEQUENCING IN 25 1259 00:43:00,800 --> 00:43:03,480 OR MORE%, THESE ARE 25% OF 1260 00:43:03,480 --> 00:43:04,880 PEOPLE WHOM OTHERWISE WOULD 1261 00:43:04,880 --> 00:43:06,800 NEVER HAVE HAD A DIAGNOSIS. 1262 00:43:06,800 --> 00:43:10,320 SO TON TO CONCLUDE, GENOME 1263 00:43:10,320 --> 00:43:11,920 SEQUENCING I WOULD SAY NOW IS AN 1264 00:43:11,920 --> 00:43:12,880 ESSENTIAL COMPONENT OF CLINICAL 1265 00:43:12,880 --> 00:43:15,680 CARE, IT IS NOT A RESEARCH TEST 1266 00:43:15,680 --> 00:43:19,400 ANYMORE THAT CAN REDUCE THE COST 1267 00:43:19,400 --> 00:43:20,840 OF EVALUATION, IT CAN RESULT IN 1268 00:43:20,840 --> 00:43:22,120 CHANGES OF MANAGEMENT, INFORM 1269 00:43:22,120 --> 00:43:23,920 FAMILY PLANNING, EXPAND OUR 1270 00:43:23,920 --> 00:43:26,000 UNDERSTANDING OF THE CAUSES OF 1271 00:43:26,000 --> 00:43:27,320 GENETIC CONDITIONS, AND FINALLY 1272 00:43:27,320 --> 00:43:29,040 OPEN THE DOOR TO TREATMENT. 1273 00:43:29,040 --> 00:43:31,280 AND WITH THAT, I WILL TURN IT 1274 00:43:31,280 --> 00:43:34,240 BACK TO CHESTER, OUR MODERATOR. 1275 00:43:34,240 --> 00:43:36,440 >> ALL RIGHT, AND I WOULD INVITE 1276 00:43:36,440 --> 00:43:38,560 ALL THE PANELISTS NOW TO MAKE 1277 00:43:38,560 --> 00:43:39,520 THEMSELVES VISIBLE FOR THE PANEL 1278 00:43:39,520 --> 00:43:41,280 DISCUSSION. 1279 00:43:41,280 --> 00:43:43,760 WE HAVE A TOTAL OF SEVEN 1280 00:43:43,760 --> 00:43:44,960 QUESTIONS THAT WE'VE BEEN ASKED 1281 00:43:44,960 --> 00:43:46,680 TO ADDRESS. 1282 00:43:46,680 --> 00:43:48,040 AND I'LL BE GOING THROUGH THOSE 1283 00:43:48,040 --> 00:43:48,360 QUESTIONS. 1284 00:43:48,360 --> 00:43:50,480 KEEP IN MIND, PLEASE, WE'RE 1285 00:43:50,480 --> 00:43:52,320 TRYING TO STAY ON SCHEDULE AND 1286 00:43:52,320 --> 00:43:53,520 SO I'VE ALREADY DONE THE MATH. 1287 00:43:53,520 --> 00:43:55,320 IT'S AN AVERAGE OF ABOUT 3 1/2 1288 00:43:55,320 --> 00:43:56,640 MINUTES PER QUESTION, SO I DON'T 1289 00:43:56,640 --> 00:43:59,120 WANT TO TAKE ANY MORE TIME FROM 1290 00:43:59,120 --> 00:44:00,800 THE EXPLANATION, AND PLEASE, THE 1291 00:44:00,800 --> 00:44:02,720 QUESTIONS ARE DIRECTED TO 1292 00:44:02,720 --> 00:44:04,720 SPECIFIC PANELISTS IN SOME 1293 00:44:04,720 --> 00:44:05,960 CASES, AND SOME ARE FROM THE 1294 00:44:05,960 --> 00:44:07,920 AUDIENCE, ACTUALLY. 1295 00:44:07,920 --> 00:44:11,320 SO FOR TERI, STEPHEN AND BRUCE, 1296 00:44:11,320 --> 00:44:12,760 WHILE IT'S EXCITING TO HEAR 1297 00:44:12,760 --> 00:44:14,120 ABOUT THE HIGH DIAGNOSTIC RATES 1298 00:44:14,120 --> 00:44:15,480 FOR PATIENTS WHO HAVE HAD ACCESS 1299 00:44:15,480 --> 00:44:17,880 TO SEQUENCING, NOT EVERYONE GETS 1300 00:44:17,880 --> 00:44:20,200 A DIAGNOSIS AS WE KNOW. 1301 00:44:20,200 --> 00:44:21,520 SO WHAT OPTIONS ARE THERE FOR 1302 00:44:21,520 --> 00:44:24,040 PATIENTS IN THIS SITUATION? 1303 00:44:24,040 --> 00:44:26,640 SO TERI, STEPHEN, BRUCE, I DON'T 1304 00:44:26,640 --> 00:44:27,760 KNOW WHO WOULD LIKE TO TAKE THAT 1305 00:44:27,760 --> 00:44:27,920 ON. 1306 00:44:27,920 --> 00:44:29,600 >> I'LL START BY TURNING IT OVER 1307 00:44:29,600 --> 00:44:31,360 TO STEPHEN AND BRUCE. 1308 00:44:31,360 --> 00:44:32,640 WHO HAVE DONE MUCH MORE WORK IN 1309 00:44:32,640 --> 00:44:34,000 THIS. 1310 00:44:34,000 --> 00:44:36,000 BUT RECOGNIZING THAT AS GENOMIC 1311 00:44:36,000 --> 00:44:37,920 INFORMATION INCREASES AND 1312 00:44:37,920 --> 00:44:39,240 EVOLVES, PEOPLE DO GET ANSWERS 1313 00:44:39,240 --> 00:44:40,640 SOMETIMES A LITTLE BIT DOWN THE 1314 00:44:40,640 --> 00:44:41,720 ROAD BUT THERE ARE OTHER 1315 00:44:41,720 --> 00:44:44,440 FORECAST 1316 00:44:44,440 --> 00:44:45,440 TECHNOLOGIES AS WELL. 1317 00:44:45,440 --> 00:44:46,440 STEPHEN, DO YOU WANT TO COMMENT? 1318 00:44:46,440 --> 00:44:47,880 >> THANK YOU, TERI. 1319 00:44:47,880 --> 00:44:50,120 I'LL MAKE ONE REALLY QUICK 1320 00:44:50,120 --> 00:44:50,720 POINT. 1321 00:44:50,720 --> 00:44:51,400 WHICH IS VERY IMPORTANT. 1322 00:44:51,400 --> 00:44:54,760 IN THE NIH FUNDED NSIGHT STUDY, 1323 00:44:54,760 --> 00:44:56,880 WE FOUND THAT ALMOST EVERY 1324 00:44:56,880 --> 00:44:59,360 PARENT AND PEDIATRICIAN TOLD US 1325 00:44:59,360 --> 00:45:01,120 THEY FELT THAT GENOME SEQUENCING 1326 00:45:01,120 --> 00:45:03,960 WAS BENEFICIAL FOR THAT CHILD. 1327 00:45:03,960 --> 00:45:06,240 FOR EXAMPLE, A NEGATIVE GENOME 1328 00:45:06,240 --> 00:45:07,840 SEQUENCING TEST CAN EFFECTIVELY 1329 00:45:07,840 --> 00:45:09,600 RULE OUT GENETIC DISEASES THAT 1330 00:45:09,600 --> 00:45:12,080 PHYSICIANS ARE WORRIED ABOUT, 1331 00:45:12,080 --> 00:45:14,320 AND ALLOW THEM TO REFOCUS ON 1332 00:45:14,320 --> 00:45:18,800 NON-GENETIC COSTS OF DISEASE. 1333 00:45:18,800 --> 00:45:20,400 >> THE ONE ADDITIONAL POINT I 1334 00:45:20,400 --> 00:45:24,560 WOULD MAKE IS THAT WHEN WE REACH 1335 00:45:24,560 --> 00:45:26,640 A POINT WHERE SEQUENCING AND 1336 00:45:26,640 --> 00:45:27,920 ANYTHING ELSE WE MIGHT HAVE 1337 00:45:27,920 --> 00:45:28,720 OFFERED DOESN'T PROVIDE A 1338 00:45:28,720 --> 00:45:30,200 DIAGNOSIS, THAT DOESN'T END OUR 1339 00:45:30,200 --> 00:45:31,920 RELATIONSHIP WITH THE PATIENT. 1340 00:45:31,920 --> 00:45:33,360 WE RECOMMEND THAT THEY BE SEEN 1341 00:45:33,360 --> 00:45:36,840 ON A REGULAR BASIS PRACTICALLY, 1342 00:45:36,840 --> 00:45:38,040 DEPENDING ON WHAT'S GOING ON. 1343 00:45:38,040 --> 00:45:39,920 THAT MEANS ABOUT ONCE A YEAR. 1344 00:45:39,920 --> 00:45:40,920 AND I'LL TELL YOU THAT THERE ARE 1345 00:45:40,920 --> 00:45:44,960 MANY INSTANCES, AND IN FACT, THE 1346 00:45:44,960 --> 00:45:47,400 TRIAL WITH THAT AG01 VARIANT WAS 1347 00:45:47,400 --> 00:45:48,520 ONE OF THEM, WHERE THE FIRST 1348 00:45:48,520 --> 00:45:49,640 TIME AROUND WE DID NOT COME UP 1349 00:45:49,640 --> 00:45:52,440 WITH AN ANSWER, BUT THEN ON 1350 00:45:52,440 --> 00:45:53,920 RE-ANALYSIS AND WATCHING THINGS 1351 00:45:53,920 --> 00:45:56,640 EVOLVE A BIT WITH THE CHILD, AN 1352 00:45:56,640 --> 00:45:57,520 ANSWER EMERGED. 1353 00:45:57,520 --> 00:45:59,920 SO IT REQUIRES A LONG TERM 1354 00:45:59,920 --> 00:46:01,360 RELATIONSHIP WITH THE FAMILY, 1355 00:46:01,360 --> 00:46:03,640 NOT TO GIVE UP AFTER A FIRST TRY 1356 00:46:03,640 --> 00:46:06,880 IF YOU DON'T GET AN ANSWER. 1357 00:46:06,880 --> 00:46:08,520 >> I AGREE, WE HAD SEVERAL 1358 00:46:08,520 --> 00:46:09,680 EXAMPLES TO THAT IN OUR PRACTICE 1359 00:46:09,680 --> 00:46:11,920 AS WELL, BRUCE, A RE-LOOK, A 1360 00:46:11,920 --> 00:46:14,680 SECOND LOOK AT THE DATASET OFTEN 1361 00:46:14,680 --> 00:46:15,400 DO PROVIDE AN ANSWER. 1362 00:46:15,400 --> 00:46:16,800 ALL RIGHT. 1363 00:46:16,800 --> 00:46:17,720 THANKS. 1364 00:46:17,720 --> 00:46:21,080 SECOND QUESTION, THIS ONE FROM FOR 1365 00:46:21,080 --> 00:46:21,840 STEEIVE AND BRUCE. 1366 00:46:21,840 --> 00:46:23,000 WE'VE HEARD ABOUT THE CLINICAL 1367 00:46:23,000 --> 00:46:24,480 IMPACT THAT SEQUENCING CAN HAVE, 1368 00:46:24,480 --> 00:46:27,040 AND I KNOW THERE ARE NEW STUDIES 1369 00:46:27,040 --> 00:46:28,120 COMING OUT LOOKING AT THE 1370 00:46:28,120 --> 00:46:29,320 COST-EFFECTIVENESS OF SEQUENCING 1371 00:46:29,320 --> 00:46:30,520 AS WELL. 1372 00:46:30,520 --> 00:46:32,320 CAN YOU SUMMARIZE WHAT THE 1373 00:46:32,320 --> 00:46:33,840 FINDINGS ARE LOOKING LIKE FOR 1374 00:46:33,840 --> 00:46:35,920 THE COST-EFFECTIVENESS FOR 1375 00:46:35,920 --> 00:46:36,240 SEQUENCING? 1376 00:46:36,240 --> 00:46:37,560 I THINK, STEPHEN, YOU WERE 1377 00:46:37,560 --> 00:46:39,880 ADDRESSING THAT IN YOUR TALK, SO 1378 00:46:39,880 --> 00:46:41,080 IF YOU'D LIKE TO EXPAND THAT, 1379 00:46:41,080 --> 00:46:41,760 THAT WOULD BE GREAT. 1380 00:46:41,760 --> 00:46:46,000 >> SURE, THANK YOU, CHESTER. 1381 00:46:46,000 --> 00:46:47,160 AGAIN BRUCE, FORGIVE ME, I'LL GO 1382 00:46:47,160 --> 00:46:47,720 FIRST. 1383 00:46:47,720 --> 00:46:48,880 I WENT THROUGH A LOT OF DATA 1384 00:46:48,880 --> 00:46:49,720 FAST. 1385 00:46:49,720 --> 00:46:51,600 BUT THOSE SLIDES ARE AVAILABLE, 1386 00:46:51,600 --> 00:46:53,280 TAKE A LOOK AT THEM. 1387 00:46:53,280 --> 00:46:55,720 THERE'S NOW STRONG EVIDENCE THAT 1388 00:46:55,720 --> 00:46:58,200 THIS IS CLINICALLY EFFECTIVE AND 1389 00:46:58,200 --> 00:46:58,920 COST-EFFECTIVE. 1390 00:46:58,920 --> 00:47:01,720 AND JUST TO SUMMARIZE ONE OF THE 1391 00:47:01,720 --> 00:47:02,920 SLIDES, WHAT WE FOUND IS FOR 1392 00:47:02,920 --> 00:47:06,320 CHILDREN IN INTENSIVE CARE 1393 00:47:06,320 --> 00:47:08,280 UNITS, RAPID DIAGNOSTIC GINO 1394 00:47:08,280 --> 00:47:13,200 NICK MID-ATLANTIC GENOMIC 1395 00:47:13,200 --> 00:47:14,520 SEQUENCING SAVES MEDICAID 1396 00:47:14,520 --> 00:47:15,040 $11,000 PER TEST. 1397 00:47:15,040 --> 00:47:16,240 THAT IS REMARKABLE. 1398 00:47:16,240 --> 00:47:18,120 NOW, WE DON'T KNOW THE ANSWER 1399 00:47:18,120 --> 00:47:19,520 YET IN BROADER SETTINGS. 1400 00:47:19,520 --> 00:47:22,680 WE DON'T KNOW ABOUT OUTPATIENT 1401 00:47:22,680 --> 00:47:25,840 ECONOMICS, OR GENERAL PEDIATRIC 1402 00:47:25,840 --> 00:47:27,760 FLOOR PATIENTS, OR EMERGENCY 1403 00:47:27,760 --> 00:47:28,080 DEPARTMENT. 1404 00:47:28,080 --> 00:47:29,280 SO WE NEED MORE STUDIES. 1405 00:47:29,280 --> 00:47:30,760 AND WE ALSO -- THESE NEW 1406 00:47:30,760 --> 00:47:32,720 POLICIES I MENTIONED, MEDICAID 1407 00:47:32,720 --> 00:47:34,600 POLICIES, ARE BRAND NEW, SO WE 1408 00:47:34,600 --> 00:47:35,720 NEED TO COLLECT THAT EVIDENCE. 1409 00:47:35,720 --> 00:47:37,440 WE NEED TO COLLECT THAT DATA AND 1410 00:47:37,440 --> 00:47:39,320 SEE WHAT THE REAL WORLD PICTURE 1411 00:47:39,320 --> 00:47:43,680 IS FOR OUR SOCIETY. 1412 00:47:43,680 --> 00:47:46,480 >> ALL I CAN ADD IS THAT THIS IS 1413 00:47:46,480 --> 00:47:48,040 ALL A MOVING TARGET. 1414 00:47:48,040 --> 00:47:49,560 THE COST OF SEQUENCING HAS 1415 00:47:49,560 --> 00:47:53,360 CONTINUED TO COME DOWN, AND IT 1416 00:47:53,360 --> 00:47:56,920 CLEAR TO ME THAT FOR ALMOST 1417 00:47:56,920 --> 00:47:58,640 EVERY PATIENT WE'VE DIAGNOSED, 1418 00:47:58,640 --> 00:48:00,800 IF THEY HAD SEQUENCING AS THE 1419 00:48:00,800 --> 00:48:02,400 FIRST TEST INSTEAD OF THE LAST 1420 00:48:02,400 --> 00:48:03,920 TEST, IT WOULD HAVE BEEN 1421 00:48:03,920 --> 00:48:05,200 THOUSANDS OF DOLLARS SAVED. 1422 00:48:05,200 --> 00:48:06,280 >> ALL RIGHT. 1423 00:48:06,280 --> 00:48:07,520 WE'LL MOVE ON TO OUR THIRD 1424 00:48:07,520 --> 00:48:09,880 QUESTION FOR THE ENTIRE PANEL. 1425 00:48:09,880 --> 00:48:11,520 DO YOU HAVE CONCERNS ABOUT 1426 00:48:11,520 --> 00:48:14,520 EQUITY OF ACCESS TO SEQUENCING, 1427 00:48:14,520 --> 00:48:15,960 AND WHAT SHOULD WE BE DOING TO 1428 00:48:15,960 --> 00:48:17,680 KNOCK DOWN THOSE BARRIERS? 1429 00:48:17,680 --> 00:48:19,520 SPECIFICALLY FOR SUSIE, ARE YOU 1430 00:48:19,520 --> 00:48:22,240 HEARING ABOUT THIS CHALLENGE IN 1431 00:48:22,240 --> 00:48:23,960 THE RARE DISORDERS NETWORK THAT 1432 00:48:23,960 --> 00:48:26,040 YOU'RE A PART OF OR THE BROADER 1433 00:48:26,040 --> 00:48:28,440 RARE DISEASE COMMUNITY? 1434 00:48:28,440 --> 00:48:33,960 >> SO FOR ME, I KNOW THAT WE HAD 1435 00:48:33,960 --> 00:48:35,520 TO PUSH VERY HARD FOR WHOLE 1436 00:48:35,520 --> 00:48:38,600 GENOME SEQUENCING, EVEN WITH IT 1437 00:48:38,600 --> 00:48:39,800 BEING RIGHT AT THE HOSPITAL. 1438 00:48:39,800 --> 00:48:42,160 SO I CAN ONLY IMAGINE, AND I 1439 00:48:42,160 --> 00:48:45,720 LIVE IN MY LITTLE BUBBLE HERE IN 1440 00:48:45,720 --> 00:48:47,120 SAN DIEGO, AND BEING MORE 1441 00:48:47,120 --> 00:48:48,960 INVOLVED NOW, I'M LEARNING MORE 1442 00:48:48,960 --> 00:48:53,720 ABOUT OTHER PARTS OF THE COUNTRY 1443 00:48:53,720 --> 00:48:55,720 AND THE WORLD, AND YEAH, I AM 1444 00:48:55,720 --> 00:48:57,040 CONCERNED, BECAUSE KNOWING THAT 1445 00:48:57,040 --> 00:48:59,520 THIS WAS A COUPLE FLOORS DOWN IN 1446 00:48:59,520 --> 00:49:00,680 THE HOSPITAL WHERE WE COULD HAVE 1447 00:49:00,680 --> 00:49:02,920 HAD THAT TOOL MAYBE A MONTH 1448 00:49:02,920 --> 00:49:05,520 EARLIER USED ON OUR SON, I STILL 1449 00:49:05,520 --> 00:49:07,520 QUESTION, WOULD HE HAVE A TRACH 1450 00:49:07,520 --> 00:49:08,720 TODAY, WOULD HE HAVE A G-TUBE, 1451 00:49:08,720 --> 00:49:10,840 WOULD HE HAVE COCHLEAR IMPLANTS, 1452 00:49:10,840 --> 00:49:12,960 COULD WE HAVE PREVENTED SOME OF 1453 00:49:12,960 --> 00:49:14,400 THESE THINGS. 1454 00:49:14,400 --> 00:49:16,000 SO YES, IT IS CONCERNING FOR 1455 00:49:16,000 --> 00:49:19,720 OTHER PARTS OF THE COUNTRY TOO. 1456 00:49:19,720 --> 00:49:21,320 >> TERI, PERHAPS YOU COULD 1457 00:49:21,320 --> 00:49:22,360 COMMENT ON THE NIH'S VIEW ON 1458 00:49:22,360 --> 00:49:23,800 THIS AND HOW THEY'RE THINKING 1459 00:49:23,800 --> 00:49:25,360 ABOUT ADDRESSING THE DISPARITIES 1460 00:49:25,360 --> 00:49:26,600 ISSUE. 1461 00:49:26,600 --> 00:49:31,920 >> WE'RE EXTREMELY CONCERNED AND 1462 00:49:31,920 --> 00:49:33,920 WE SEE A HUGE MOUNTAIN TO BE 1463 00:49:33,920 --> 00:49:34,280 CLIMBED. 1464 00:49:34,280 --> 00:49:36,120 ON THAT GRAPH I SHOWED YOU IN 1465 00:49:36,120 --> 00:49:36,760 TERMS OF DATA THAT ARE 1466 00:49:36,760 --> 00:49:37,320 AVAILABLE. 1467 00:49:37,320 --> 00:49:39,240 BUT IT ISN'T JUST DATA, IT'S 1468 00:49:39,240 --> 00:49:42,720 UNDERSTANDING AND ACCEPTANCE, 1469 00:49:42,720 --> 00:49:44,040 ISSUES OF TRUST WITH THE MEDICAL 1470 00:49:44,040 --> 00:49:45,960 CARE SYSTEM, THE NEED TO COLLECT 1471 00:49:45,960 --> 00:49:47,560 GENOMIC DATA, WHICH HAVE BEEN 1472 00:49:47,560 --> 00:49:51,800 USED IN OTHER AND SOMETIMES NE 1473 00:49:51,800 --> 00:49:52,520 NEFARIOUS WAYS. 1474 00:49:52,520 --> 00:49:53,320 THESE ARE ALL ASPECTS THAT WE 1475 00:49:53,320 --> 00:49:55,120 TRY TO ADDRESS THROUGH NOT ONLY 1476 00:49:55,120 --> 00:49:57,120 OUR RESEARCH BUT ALSO IN PUBLIC 1477 00:49:57,120 --> 00:49:58,480 MESSAGING AND WORKING WITH OTHER 1478 00:49:58,480 --> 00:50:00,240 GOVERNMENT AGENCIES. 1479 00:50:00,240 --> 00:50:03,000 >> SO BRUCE -- GO AHEAD. 1480 00:50:03,000 --> 00:50:05,200 >> LET'S JUST REMEMBER THAT 45 1481 00:50:05,200 --> 00:50:07,680 STATES DON'T HAVE A COVERAGE 1482 00:50:07,680 --> 00:50:09,040 POLICY, WHICH MEANS THAT YOU'RE 1483 00:50:09,040 --> 00:50:10,920 NOT GOING TO GET THIS TEST IN 1484 00:50:10,920 --> 00:50:14,040 THOSE STATES. 1485 00:50:14,040 --> 00:50:15,280 AND FURTHERMORE, SOME PATIENTS 1486 00:50:15,280 --> 00:50:17,320 WHO HAVE PRIVATE INSURANCE ARE 1487 00:50:17,320 --> 00:50:17,800 DISADVANTAGED. 1488 00:50:17,800 --> 00:50:20,960 THEY'D BE BETTER OFF ON 1489 00:50:20,960 --> 00:50:27,720 MEDICAID. 1490 00:50:27,720 --> 00:50:28,640 >> OKAY. 1491 00:50:28,640 --> 00:50:33,000 LET'S MOVE TO THE NEXT, AGAIN, 1492 00:50:33,000 --> 00:50:34,160 THIS FOR THE ENTIRE PANEL. 1493 00:50:34,160 --> 00:50:35,120 WE'VE HEARD ABOUT THE BENEFITS 1494 00:50:35,120 --> 00:50:36,320 THAT A DIAGNOSIS CAN BRING TO 1495 00:50:36,320 --> 00:50:37,600 THE INDIVIDUAL PATIENT. 1496 00:50:37,600 --> 00:50:39,240 BUT WE ALSO KNOW THERE CAN BE 1497 00:50:39,240 --> 00:50:40,920 BENEFIT TO FAMILY MEMBERS OR 1498 00:50:40,920 --> 00:50:43,320 OTHERS IN THE COMMUNITY. 1499 00:50:43,320 --> 00:50:45,200 CAN YOU TALK ABOUT THE RIPPLE 1500 00:50:45,200 --> 00:50:47,480 EFFECT OF GETTING A DIAGNOSIS? 1501 00:50:47,480 --> 00:50:49,040 I GUESS I CAN LEAVE THAT OPEN TO 1502 00:50:49,040 --> 00:50:49,720 JUST ABOUT ANYONE. 1503 00:50:49,720 --> 00:50:51,520 >> I CAN START. 1504 00:50:51,520 --> 00:50:53,080 I'M SURE EVERYBODY CAN ADD TO 1505 00:50:53,080 --> 00:50:54,520 THIS. 1506 00:50:54,520 --> 00:50:58,040 SO I MENTIONED THE ALABAMA 1507 00:50:58,040 --> 00:50:59,120 GENOMIC HEALTH -- JUST TO COME 1508 00:50:59,120 --> 00:51:00,040 BACK TO THE PREVIOUS QUESTION 1509 00:51:00,040 --> 00:51:01,720 FOR A SECOND, WE HAVE A 1510 00:51:01,720 --> 00:51:02,920 COMMUNITY ADVISORY BOARD AS PART 1511 00:51:02,920 --> 00:51:05,600 OF THE STATE FUNDED PROJECT, AND 1512 00:51:05,600 --> 00:51:06,800 PART OF WHAT WE'RE DOING IS 1513 00:51:06,800 --> 00:51:08,400 GOING OUT INTO THE COMMUNITY TO 1514 00:51:08,400 --> 00:51:09,800 LEARN WHAT ARE THE CONCERNS AND 1515 00:51:09,800 --> 00:51:11,400 WHAT ARE THE SENSITIVITIES THAT 1516 00:51:11,400 --> 00:51:16,400 WE NEED TO BE ALERT TO AS WE 1517 00:51:16,400 --> 00:51:17,920 INTEGRATE GENOMICS, WHICH WE'RE 1518 00:51:17,920 --> 00:51:21,040 DOING INTO FAMILY MEDICINE? 1519 00:51:21,040 --> 00:51:23,680 ONE OF THE THINGS WE'RE DOING IS 1520 00:51:23,680 --> 00:51:24,360 IDENTIFYING INDIVIDUALS AT RISK 1521 00:51:24,360 --> 00:51:26,440 FOR A VARIETY OF DISORDERS, 1522 00:51:26,440 --> 00:51:28,160 CANCER, CARDIOVASCULAR DISEASE, 1523 00:51:28,160 --> 00:51:30,400 TO NAME A COUPLE, AND WHAT WE'RE 1524 00:51:30,400 --> 00:51:33,280 FINDING IS THAT SOMETIMES IT 1525 00:51:33,280 --> 00:51:34,520 COMPLETE NEWS TO THEM THAT THEY 1526 00:51:34,520 --> 00:51:35,120 WERE AT RISK. 1527 00:51:35,120 --> 00:51:36,560 SOMETIMES THEY WERE QUITE AWARE 1528 00:51:36,560 --> 00:51:38,960 THAT THEY HAD SOMETHING, BUT 1529 00:51:38,960 --> 00:51:42,400 OFTEN THEY HAD NO IDEA THAT IT 1530 00:51:42,400 --> 00:51:43,640 WAS SOMETHING THAT COULD AFFECT 1531 00:51:43,640 --> 00:51:45,000 OTHER MEMBERS OF THE FAMILY, AND 1532 00:51:45,000 --> 00:51:46,920 WHAT WE'RE NOW OFFERING IS 1533 00:51:46,920 --> 00:51:49,960 GENETIC COUNSELING TO THESE 1534 00:51:49,960 --> 00:51:50,920 INDIVIDUALS WITH THE ABILITY TO 1535 00:51:50,920 --> 00:51:55,080 HELP THEM TO NOTIFY OTHER FAMILY 1536 00:51:55,080 --> 00:51:56,760 MEMBERS OF RISK THEY MIGHT HAVE 1537 00:51:56,760 --> 00:51:58,080 OTHERWISE BEEN COMPLETELY 1538 00:51:58,080 --> 00:51:58,600 OBLIVIOUS TO. 1539 00:51:58,600 --> 00:52:00,680 THESE ARE ALL THINGS WHERE THERE 1540 00:52:00,680 --> 00:52:01,880 IS A TREATMENT AVAILABLE TO 1541 00:52:01,880 --> 00:52:04,160 PREVENT SEVERE OUTCOMES IF A 1542 00:52:04,160 --> 00:52:05,720 DIAGNOSIS IS MADE EARLY ON. 1543 00:52:05,720 --> 00:52:07,920 SO IT CAN MAKE A HUGE DIFFERENCE 1544 00:52:07,920 --> 00:52:11,920 TO A FAMILY. 1545 00:52:11,920 --> 00:52:13,920 >> ANY COMMENTS ABOUT RADY AND 1546 00:52:13,920 --> 00:52:15,240 KIND OF THEIR GENERAL APPROACH 1547 00:52:15,240 --> 00:52:19,320 TO SUCH THINGS? 1548 00:52:19,320 --> 00:52:21,000 >> I TOTALLY AGREE WITH BRUCE, 1549 00:52:21,000 --> 00:52:22,840 THIS IS FAMILY IMPACT. 1550 00:52:22,840 --> 00:52:25,120 AS PEDIATRICIANS, WE TREAT 1551 00:52:25,120 --> 00:52:26,880 FAMILIES AND NOT PATIENTS, SO IT 1552 00:52:26,880 --> 00:52:27,960 HAS RIPPLE EFFECTS THROUGHOUT 1553 00:52:27,960 --> 00:52:30,400 THE FAMILY AND SO OFTEN WE HEAR 1554 00:52:30,400 --> 00:52:32,760 STORIES OF, WELL, THAT EXPLAINS 1555 00:52:32,760 --> 00:52:34,160 SO MUCH, NOW I UNDERSTAND WHAT 1556 00:52:34,160 --> 00:52:36,640 WAS GOING ON WITH GRANNY. 1557 00:52:36,640 --> 00:52:37,840 SO THIS IS HUGELY IMPORTANT. 1558 00:52:37,840 --> 00:52:40,200 AND THE OTHER WONDERFUL THING IS 1559 00:52:40,200 --> 00:52:42,320 THAT ONCE WE HAVE A GENOME 1560 00:52:42,320 --> 00:52:43,520 SEQUENCE, WE HAVE SOMETHING WE 1561 00:52:43,520 --> 00:52:45,880 CAN GO BACK TO. 1562 00:52:45,880 --> 00:52:48,920 AS SUSIE MENTIONED, HER LITTLE 1563 00:52:48,920 --> 00:52:51,000 SON HAS HAD TWO DIAGNOSES SINCE 1564 00:52:51,000 --> 00:52:52,360 HE HAS ONGOING ISSUES. 1565 00:52:52,360 --> 00:52:55,200 WE CAN RE-LOOK AT THE GENOME AND 1566 00:52:55,200 --> 00:52:56,680 SEE IS THERE ANYTHING ELSE 1567 00:52:56,680 --> 00:52:56,880 THERE. 1568 00:52:56,880 --> 00:52:59,080 THAT'S GOING TO BE VERY POWERFUL 1569 00:52:59,080 --> 00:53:01,440 IN THE YEARS TO COME. 1570 00:53:01,440 --> 00:53:03,920 >> AND IF I CAN JUST ADD IN KIND 1571 00:53:03,920 --> 00:53:05,960 OF GENERAL STANDARD CLINICAL 1572 00:53:05,960 --> 00:53:06,760 GENETICS PRACTICE, IF WE KNOW 1573 00:53:06,760 --> 00:53:08,960 THAT THERE'S A RISK TO THE 1574 00:53:08,960 --> 00:53:10,320 EXTENDED FAMILY, WE'LL TYPICALLY 1575 00:53:10,320 --> 00:53:12,280 OFFER TO THE FAMILIES WE'RE 1576 00:53:12,280 --> 00:53:15,640 WORKING WITH THE OPPORTUNITY OR 1577 00:53:15,640 --> 00:53:17,320 OFFER THE POSSIBILITY OF 1578 00:53:17,320 --> 00:53:18,800 COMMUNICATING WITH OTHER FAMILY 1579 00:53:18,800 --> 00:53:20,600 MEMBERS, EITHER THROUGH A BRIEF 1580 00:53:20,600 --> 00:53:22,000 DESCRIPTIVE LETTER THAT WOULD 1581 00:53:22,000 --> 00:53:23,680 THEN ALLOW THEM TO CONTACT US IF 1582 00:53:23,680 --> 00:53:25,760 THEY WANTED TO PURSUE ADDITIONAL 1583 00:53:25,760 --> 00:53:27,880 HELP IN THAT SPACE. 1584 00:53:27,880 --> 00:53:29,720 SO IT IS SOMETHING THAT'S PART 1585 00:53:29,720 --> 00:53:30,800 OF CLINICAL GENETICS PRACTICE 1586 00:53:30,800 --> 00:53:31,760 AND HAS BEEN FOR A VERY LONG 1587 00:53:31,760 --> 00:53:33,520 TIME. 1588 00:53:33,520 --> 00:53:35,320 >> ALL RIGHT. 1589 00:53:35,320 --> 00:53:36,120 LET'S MOVE ON. 1590 00:53:36,120 --> 00:53:37,040 WE'RE GOING TO MOVE ACTUALLY 1591 00:53:37,040 --> 00:53:45,600 DOWN A LITTLE BIT TO AB AN 1592 00:53:45,600 --> 00:53:46,160 AUDIENCE-GENERATED QUESTION 1593 00:53:46,160 --> 00:53:48,520 DIRECTED TO STEPHEN, BRUCE AND 1594 00:53:48,520 --> 00:53:48,840 TERI. 1595 00:53:48,840 --> 00:53:49,920 TODAY THERE ARE MANY DIFFERENT 1596 00:53:49,920 --> 00:53:51,360 LABS OFFERING GENETIC TESTING 1597 00:53:51,360 --> 00:53:53,520 AND GENETIC SEQUENCING SERVICES. 1598 00:53:53,520 --> 00:53:55,120 CAN YOU SPEAK TO PROGRESS ON 1599 00:53:55,120 --> 00:53:55,560 STANDARDIZATION? 1600 00:53:55,560 --> 00:53:58,040 THAT IS, HOW ARE THE RESULTS OF 1601 00:53:58,040 --> 00:53:59,680 SEQUENCING TESTS BEING REPORTED 1602 00:53:59,680 --> 00:54:01,520 TO PROVIDERS, AND HOW ARE 1603 00:54:01,520 --> 00:54:02,960 PROVIDERS IN TURN THEN 1604 00:54:02,960 --> 00:54:03,720 COMMUNICATING THOSE RESULTS TO 1605 00:54:03,720 --> 00:54:05,040 PATIENTS? 1606 00:54:05,040 --> 00:54:06,840 HOW ARE RESULTS HANDLED WHEN 1607 00:54:06,840 --> 00:54:09,720 THERE ARE MUTATIONS DETECTED 1608 00:54:09,720 --> 00:54:13,920 WITHOUT A KNOWN IMPACT ON 1609 00:54:13,920 --> 00:54:14,560 HEALTH? 1610 00:54:14,560 --> 00:54:16,760 SO-CALLED VARIANCE OF UNCERTAIN 1611 00:54:16,760 --> 00:54:17,120 SIGNIFICANCE. 1612 00:54:17,120 --> 00:54:18,040 SO ANYONE LIKE TO TAKE THAT ON? 1613 00:54:18,040 --> 00:54:20,960 >> MAYBE I'LL TAKE THE EASY PART 1614 00:54:20,960 --> 00:54:23,560 ON THE VARIANCE OF UNKNOWN 1615 00:54:23,560 --> 00:54:25,320 SIGNIFICANCE FOR MOST LABS ARE 1616 00:54:25,320 --> 00:54:26,120 NOT CURRENTLY REPORTING THEM AND 1617 00:54:26,120 --> 00:54:27,480 THEY ARE NOT RECOMMENDED TO BE 1618 00:54:27,480 --> 00:54:27,800 RETURNED. 1619 00:54:27,800 --> 00:54:30,720 WE DO HAVE PARTICIPANTS IN 1620 00:54:30,720 --> 00:54:31,400 STUDIES AS WELL AS PATIENTS WHO 1621 00:54:31,400 --> 00:54:34,000 WANT EVERYTHING. 1622 00:54:34,000 --> 00:54:35,360 AND WHEN THEY ASK FOR 1623 00:54:35,360 --> 00:54:36,240 EVERYTHING, A LOT OF TIMES IT'S 1624 00:54:36,240 --> 00:54:37,480 NOT CLEAR WHAT EXACTLY THEY'RE 1625 00:54:37,480 --> 00:54:38,960 LOOKING FOR, BUT IN GENERAL, 1626 00:54:38,960 --> 00:54:40,560 LABS DON'T PROVIDE THOSE. 1627 00:54:40,560 --> 00:54:41,520 WHEN IT COMES TO 1628 00:54:41,520 --> 00:54:43,720 STANDARDIZATION, THIS IS STILL A 1629 00:54:43,720 --> 00:54:44,440 WORK IN PROGRESS. 1630 00:54:44,440 --> 00:54:46,080 I THINK, BRUCE, YOU WERE VERY 1631 00:54:46,080 --> 00:54:47,080 HEAVILY INVOLVED IN SOME EFFORTS 1632 00:54:47,080 --> 00:54:48,560 TO AT LEAST PUT OUT GUIDELINES 1633 00:54:48,560 --> 00:54:49,960 FOR LABORATORIES AS TO WHAT 1634 00:54:49,960 --> 00:54:51,360 SHOULD BE INCLUDED IN GENETIC 1635 00:54:51,360 --> 00:54:51,600 TESTING. 1636 00:54:51,600 --> 00:54:52,960 I DON'T KNOW IF YOU WANT TO 1637 00:54:52,960 --> 00:54:53,400 COMMENT ON THAT. 1638 00:54:53,400 --> 00:54:54,800 >> SURE. 1639 00:54:54,800 --> 00:54:55,560 SO THE AMERICAN COLLEGE OF 1640 00:54:55,560 --> 00:54:57,000 MEDICAL GENETICS AND GENOMICS 1641 00:54:57,000 --> 00:54:59,920 AND THE ASSOCIATION OF MOLECULAR 1642 00:54:59,920 --> 00:55:00,920 PATHOLOGISTS GOT TOGETHER A FEW 1643 00:55:00,920 --> 00:55:03,320 YEARS AGO NOW AND PUT TOGETHER 1644 00:55:03,320 --> 00:55:06,960 GUIDELINES ON HOW TO INTERPRET 1645 00:55:06,960 --> 00:55:08,280 SPECIFIC GENOMIC VARIANTS. 1646 00:55:08,280 --> 00:55:10,680 AND IT'S A FAIRLY COMPLICATED 1647 00:55:10,680 --> 00:55:12,040 SORT OF ALGORITHM, ALTHOUGH YOU 1648 00:55:12,040 --> 00:55:13,320 MIGHT THINK OF IT AS ALL STUFF 1649 00:55:13,320 --> 00:55:17,720 THAT GOES ON UNDER THE HOOD IN 1650 00:55:17,720 --> 00:55:20,480 THE LABORATORY, TRYING TO DECIDE 1651 00:55:20,480 --> 00:55:21,320 A PARTICULAR VARIANT. 1652 00:55:21,320 --> 00:55:22,920 REALIZE WHEN YOU SEQUENCE A 1653 00:55:22,920 --> 00:55:25,280 WHOLE GENOME, ANYBODY WILL HAVE 1654 00:55:25,280 --> 00:55:25,960 LIKE 6 MILLION VARIANTS, SO 1655 00:55:25,960 --> 00:55:26,920 YOU'RE LOOKING FOR THE ONE THAT 1656 00:55:26,920 --> 00:55:28,280 YOU THINK IS MOST LIKELY 1657 00:55:28,280 --> 00:55:29,120 RESPONSIBLE FOR THE PROBLEM THAT 1658 00:55:29,120 --> 00:55:30,720 YOU'RE TRYING TO EXPLAIN. 1659 00:55:30,720 --> 00:55:34,000 AND SO THERE ARE PRETTY WELL 1660 00:55:34,000 --> 00:55:36,640 STANDARDIZED CRITERIA NOW. 1661 00:55:36,640 --> 00:55:37,640 HONESTLY, THERE'S STILL 1662 00:55:37,640 --> 00:55:39,080 OCCASIONAL DISAGREEMENTS BETWEEN 1663 00:55:39,080 --> 00:55:40,960 LABS AS TO EXACTLY HOW TO 1664 00:55:40,960 --> 00:55:43,320 INTERPRET A PARTICULAR VARIANT, 1665 00:55:43,320 --> 00:55:44,800 PARTICULARLY THOSE VARIANT OF 1666 00:55:44,800 --> 00:55:46,880 UNKNOWN SIGNIFICANCE, AND I 1667 00:55:46,880 --> 00:55:50,440 WOULD SAY THAT THERE'S PROBABLY 1668 00:55:50,440 --> 00:55:53,320 STILL WORK TO BE DONE TOWARDS 1669 00:55:53,320 --> 00:55:54,000 STANDARDIZING LABORATORY REPORTS 1670 00:55:54,000 --> 00:55:56,760 SO THAT A CLINICIAN WOULD KNOW 1671 00:55:56,760 --> 00:55:57,720 EXACTLY WHERE TO LOOK FOR 1672 00:55:57,720 --> 00:56:00,520 THE CRITICAL INFORMATION. 1673 00:56:00,520 --> 00:56:02,400 REALIZING A GENOME'S WORTH OF 1674 00:56:02,400 --> 00:56:04,520 DATA IS A LOT OF INFORMATION TO 1675 00:56:04,520 --> 00:56:04,960 DIGEST. 1676 00:56:04,960 --> 00:56:06,600 BUT HOPEFULLY WE'LL MAKE 1677 00:56:06,600 --> 00:56:09,520 PROGRESS IN TERMS OF CODIFYING 1678 00:56:09,520 --> 00:56:12,240 IT SO THAT IT'S A BIT EASIER TO 1679 00:56:12,240 --> 00:56:12,520 INTERPRET. 1680 00:56:12,520 --> 00:56:14,880 AND ASIDE FROM VARIANTS OF 1681 00:56:14,880 --> 00:56:16,080 UNKNOWN SIGNIFICANCE, THERE ARE 1682 00:56:16,080 --> 00:56:17,840 ALSO SOME CALLED SECONDARY 1683 00:56:17,840 --> 00:56:18,720 FINDINGS, WHERE YOU FIND 1684 00:56:18,720 --> 00:56:21,200 SOMETHING THAT IS MEDICALLY 1685 00:56:21,200 --> 00:56:22,520 IMPORTANT, HAPPENS NOT TO BE 1686 00:56:22,520 --> 00:56:23,240 CONNECTED WITH THE REASON DID 1687 00:56:23,240 --> 00:56:25,520 YOU THE SEQUENCING IN THE FIRST 1688 00:56:25,520 --> 00:56:29,920 PLACE, AND NOW THE STANDARD IS 1689 00:56:29,920 --> 00:56:31,520 TO ASK PEOPLE AT THE TIME WHEN 1690 00:56:31,520 --> 00:56:33,000 SEQUENCING IS INITIATED IF THEY 1691 00:56:33,000 --> 00:56:34,440 WANT TO KNOW ABOUT THOSE. 1692 00:56:34,440 --> 00:56:35,640 THE AMERICAN COLLEGE OF MEDICAL 1693 00:56:35,640 --> 00:56:37,560 GENETICS AND GENOMICS MAINTAINS 1694 00:56:37,560 --> 00:56:39,200 A GROWING LIST OF GENES WHERE IF 1695 00:56:39,200 --> 00:56:42,800 YOU CAN IDENTIFY A PATHOGENIC 1696 00:56:42,800 --> 00:56:46,000 VARIANT, YOU CAN ACTUALLY OFFER 1697 00:56:46,000 --> 00:56:49,640 PREVENTIVE CARE TO AVOID SERIOUS 1698 00:56:49,640 --> 00:56:50,640 OUTCOMES SUCH AS CANCER AND 1699 00:56:50,640 --> 00:56:53,880 HEART DISEASE, TO TA NAME NAME A COUPLE. 1700 00:56:53,880 --> 00:56:55,280 >> WOULD ANYONE CARE TO COMMENT 1701 00:56:55,280 --> 00:56:56,920 ON HOW THAT IS COMMUNICATED TO 1702 00:56:56,920 --> 00:57:01,320 THE FAMILIES WHEN THEY DO OCCUR, 1703 00:57:01,320 --> 00:57:03,320 WHAT YOUR PRACTICE STYLES ARE OR 1704 00:57:03,320 --> 00:57:05,960 HAVE BEEN? 1705 00:57:05,960 --> 00:57:08,840 >> WHEN WE SIT DOWN WITH A 1706 00:57:08,840 --> 00:57:13,000 FAMILY TO GO OVER THE RESULTS OF 1707 00:57:13,000 --> 00:57:14,400 SEQUENCING, YOU CAN'T TALK ABOUT 1708 00:57:14,400 --> 00:57:18,040 ALL SIX MILL YN MILLION VARIANTS 1709 00:57:18,040 --> 00:57:21,720 OBVIOUSLY SO WE FOCUS IN ON THE 1710 00:57:21,720 --> 00:57:24,040 ONES THAT WE THINK EITHER 1711 00:57:24,040 --> 00:57:27,920 THERE'S COMPELLING EVIDENCE OF 1712 00:57:27,920 --> 00:57:34,280 PATHOJE NIS TI OR STRONGLY 1713 00:57:34,280 --> 00:57:35,360 PATHOGENIC AND -- THINGS WILL 1714 00:57:35,360 --> 00:57:35,600 RETURN. 1715 00:57:35,600 --> 00:57:37,480 WE IN A CLINICAL SETTING DO NOT 1716 00:57:37,480 --> 00:57:39,560 GET INTO LOTS OF DETAIL ABOUT 1717 00:57:39,560 --> 00:57:41,000 VARIANTS OF UNKNOWN SIGNIFICANCE 1718 00:57:41,000 --> 00:57:43,760 UNLESS THERE'S A HIGHLY 1719 00:57:43,760 --> 00:57:46,320 PLAUSIBLE SORT OF RELATIONSHIP 1720 00:57:46,320 --> 00:57:47,520 AND A PATHWAY THAT WE CAN OFFER 1721 00:57:47,520 --> 00:57:49,120 TO TRY TO RESOLVE IT. 1722 00:57:49,120 --> 00:57:51,400 WE HAVE AVAILABLE, I MENTIONED 1723 00:57:51,400 --> 00:57:53,280 EARLIER, GENE MATCHERS 1724 00:57:53,280 --> 00:57:54,120 POSSIBILITY, WHICH OF COURSE 1725 00:57:54,120 --> 00:57:54,920 EVERYONE HAS AVAILABLE. 1726 00:57:54,920 --> 00:57:57,120 WE ALSO HAVE A CENTER FOR 1727 00:57:57,120 --> 00:57:59,320 PRECISION ANIMAL MODELING WE CAN 1728 00:57:59,320 --> 00:58:01,320 ENROLL PEOPLE IN FOR RESEARCH. 1729 00:58:01,320 --> 00:58:02,920 SO THAT, WE KIND OF CUSTOMIZE 1730 00:58:02,920 --> 00:58:06,560 WHAT WE TALK ABOUT DEPENDING ON 1731 00:58:06,560 --> 00:58:07,760 WHAT THE KIND OF INTEREST AND 1732 00:58:07,760 --> 00:58:08,960 NEEDS OF THE FAMILY ACTUALLY 1733 00:58:08,960 --> 00:58:10,920 ARE. 1734 00:58:10,920 --> 00:58:13,720 >> LET ME JUST ADD THAT GENETIC 1735 00:58:13,720 --> 00:58:14,720 COUNSELORS ARE THE GLUE HERE. 1736 00:58:14,720 --> 00:58:17,000 THEY ARE THE HEALTHCARE 1737 00:58:17,000 --> 00:58:18,680 PROFESSIONALS WHO HAVE THE TIME 1738 00:58:18,680 --> 00:58:21,920 AND THE REMIT TO EXPLAIN IN 1739 00:58:21,920 --> 00:58:26,040 LEHMANN'S 1740 00:58:26,040 --> 00:58:27,320 LAYMAN'S LANGUAGE WHAT THE 1741 00:58:27,320 --> 00:58:28,680 RESULTS MEAN. 1742 00:58:28,680 --> 00:58:30,720 TRAGICALLY WE HAVE VERY FEW 1743 00:58:30,720 --> 00:58:32,880 TRAINING PROGRAMS FOR GENETIC 1744 00:58:32,880 --> 00:58:34,320 COUNSELORS. 1745 00:58:34,320 --> 00:58:35,920 AS OUR FIELD EXPLODES AND WE'RE 1746 00:58:35,920 --> 00:58:37,640 ABLE TO DO THIS FOR THOUSANDS 1747 00:58:37,640 --> 00:58:38,520 MORE CHILDREN, WE'RE GOING TO 1748 00:58:38,520 --> 00:58:39,720 BADLY NEED MORE GENETIC 1749 00:58:39,720 --> 00:58:40,920 COUNSELORS TO FILL THAT GAP. 1750 00:58:40,920 --> 00:58:43,320 BECAUSE IT CAN TAKE HOURS TO 1751 00:58:43,320 --> 00:58:44,520 UNPACK A REPORT. 1752 00:58:44,520 --> 00:58:46,920 >> JUST VERY BRIEFLY, I'LL ADD 1753 00:58:46,920 --> 00:58:49,440 ONE THING, BRUCE, I THINK WE'RE 1754 00:58:49,440 --> 00:58:51,000 PRETTY CONSISTENT AS FAR AS OUR 1755 00:58:51,000 --> 00:58:54,040 REPORTING PRACTICES. 1756 00:58:54,040 --> 00:58:57,880 IF THERE IS A BIOASSAY 1757 00:58:57,880 --> 00:58:58,680 DOWNSTREAM OR SOMETHING ELSE 1758 00:58:58,680 --> 00:58:59,880 THAT CAN ADD SUPPORTING EVIDENCE 1759 00:58:59,880 --> 00:59:01,520 TO THAT VARIANT IF WE THINK IT'S 1760 00:59:01,520 --> 00:59:02,960 A STRONG CANDIDATE, THEN WE'LL 1761 00:59:02,960 --> 00:59:05,640 OF COURSE PURSUE THAT TO SEE IF 1762 00:59:05,640 --> 00:59:06,280 THERE'S FUNCTIONAL EVIDENCE OF 1763 00:59:06,280 --> 00:59:07,320 AN EFFECT. 1764 00:59:07,320 --> 00:59:12,520 >> WE JUST STARTED MAKING NED 1765 00:59:12,520 --> 00:59:13,920 CAL DECISIONS BASED ON VUSs 1766 00:59:13,920 --> 00:59:16,040 BUT WE CAN SOMETIMES OFFER A 1767 00:59:16,040 --> 00:59:16,920 FURTHER PATHWAY TOWARDS 1768 00:59:16,920 --> 00:59:17,440 RESOLUTION OF THOSE. 1769 00:59:17,440 --> 00:59:18,080 >> OKAY. 1770 00:59:18,080 --> 00:59:19,240 JUST A COUPLE QUESTIONS LEFT 1771 00:59:19,240 --> 00:59:21,360 HERE, SO I THINK WE WILL BE ON 1772 00:59:21,360 --> 00:59:24,320 TARGET AS FAR AS OUR TIME 1773 00:59:24,320 --> 00:59:26,400 LIMITATIONS HERE. 1774 00:59:26,400 --> 00:59:28,040 THIS AGAIN FOR STEPHEN, BRUCE 1775 00:59:28,040 --> 00:59:28,520 AND TERRY. 1776 00:59:28,520 --> 00:59:30,600 AS MORE STATES AND PRIVATE PLANS 1777 00:59:30,600 --> 00:59:32,960 BEGIN TO COVER RAPID WHOLE 1778 00:59:32,960 --> 00:59:34,760 GENOME SEQUENCING, WE ARE 1779 00:59:34,760 --> 00:59:37,840 STARTING TO SEE SOME THEMES AND 1780 00:59:37,840 --> 00:59:38,600 SIMILARITIES AMONG COVERAGE 1781 00:59:38,600 --> 00:59:40,000 CRITERIA AND CUTOFFS. 1782 00:59:40,000 --> 00:59:41,360 FOR EXAMPLE, MANY COVERAGE 1783 00:59:41,360 --> 00:59:43,720 POLICIES LIMIT SEQUENCING 1784 00:59:43,720 --> 00:59:45,000 ELIGIBILITY TO ONE YEAR OF AGE 1785 00:59:45,000 --> 00:59:46,000 OR YOUNGER. 1786 00:59:46,000 --> 00:59:48,920 CAN YOU SPEAK TO YOUR EXPERIENCE 1787 00:59:48,920 --> 00:59:50,400 OF HOW WE ARRIVED AT THIS CUTOFF 1788 00:59:50,400 --> 00:59:51,760 AND WHAT THE EVIDENCE BASE IS 1789 00:59:51,760 --> 00:59:53,960 LIKE FOR SEQUENCING IN PATIENTS 1790 00:59:53,960 --> 00:59:55,520 WHO ARE OLDER? 1791 00:59:55,520 --> 00:59:58,360 >> THIS IS AN AREA THAT I HAVE A 1792 00:59:58,360 --> 01:00:00,120 LOT OF TIME INVESTED IN, SO 1793 01:00:00,120 --> 01:00:02,120 MAYBE I'LL HAVE A QUICK GO AT 1794 01:00:02,120 --> 01:00:02,800 IT. 1795 01:00:02,800 --> 01:00:03,160 IT'S TRUE. 1796 01:00:03,160 --> 01:00:06,920 SO THE STARTING POINT WAS THE 1797 01:00:06,920 --> 01:00:09,120 OWE 1798 01:00:09,120 --> 01:00:10,640 NEONATAL INTENSIVE CARE UNIT, 1799 01:00:10,640 --> 01:00:12,000 WHERE THE FIRST CLINICAL UTILITY 1800 01:00:12,000 --> 01:00:13,440 DATA AND THE FIRST 1801 01:00:13,440 --> 01:00:14,080 COST-EFFECTIVENESS DATA WAS 1802 01:00:14,080 --> 01:00:15,520 GENERATED. 1803 01:00:15,520 --> 01:00:16,960 BUT MORE RECENT STUDIES HAVE 1804 01:00:16,960 --> 01:00:18,840 SHOWN WHAT'S TRUE IN THE NICU IS 1805 01:00:18,840 --> 01:00:20,080 ALSO TRUE IN THE PEDIATRIC 1806 01:00:20,080 --> 01:00:22,560 INTENSIVE CARE UNIT WITH OLDER 1807 01:00:22,560 --> 01:00:23,040 CHILDREN. 1808 01:00:23,040 --> 01:00:24,320 AND THAT, IN FACT, THE FINDINGS 1809 01:00:24,320 --> 01:00:26,920 ARE ALMOST IDENTICAL, AND THE 1810 01:00:26,920 --> 01:00:28,720 SAME IN THE CARDIOVASCULAR 1811 01:00:28,720 --> 01:00:30,720 INTENSIVE CARE UNIT. 1812 01:00:30,720 --> 01:00:32,640 SO MORE RECENTLY, THE MOST 1813 01:00:32,640 --> 01:00:35,800 RECENT OF THE POLICIES, SO 1814 01:00:35,800 --> 01:00:38,320 THAT'S IN MINNESOTA, FOR 1815 01:00:38,320 --> 01:00:40,360 EXAMPLE, HAVE EXPANDED IT FROM 1816 01:00:40,360 --> 01:00:41,960 CHILDREN LESS THAN ONE YEAR OF 1817 01:00:41,960 --> 01:00:43,960 AGE TO ALL CHILDREN WHO ARE 1818 01:00:43,960 --> 01:00:46,320 MEDICAID BENEFICIARIES IN ANY 1819 01:00:46,320 --> 01:00:49,400 INTENSIVE CARE UNIT SETTING. 1820 01:00:49,400 --> 01:00:50,960 SO I THINK THIS IS EVOLVING, I 1821 01:00:50,960 --> 01:00:52,360 THINK WE NEED TO CONTINUE TO 1822 01:00:52,360 --> 01:00:54,760 GENERATE THE DATA AND THE PAST 1823 01:00:54,760 --> 01:00:56,360 PRACTICES BUT I DON'T THINK 1824 01:00:56,360 --> 01:00:57,720 WE'RE FINISHED YET, I THINK WE 1825 01:00:57,720 --> 01:00:59,120 ARE STILL MISSING DESERVING 1826 01:00:59,120 --> 01:01:00,640 CHILDREN AND BABIES WHO MAY NOT 1827 01:01:00,640 --> 01:01:01,920 MAKE IT. 1828 01:01:01,920 --> 01:01:05,160 HUDSON'S STORY, FOR MOST OF HIS 1829 01:01:05,160 --> 01:01:06,360 HOSPITALIZATION WAS NOT IN THE 1830 01:01:06,360 --> 01:01:07,320 INTENSIVE CARE UNIT, AND THAT 1831 01:01:07,320 --> 01:01:09,640 WAS A LARGE REASON WHY HE DIDN'T 1832 01:01:09,640 --> 01:01:15,240 GET GENOME SEQUENCING EARLIER. 1833 01:01:15,240 --> 01:01:19,800 SO THERE ARE INTENSIVE CARE 1834 01:01:19,800 --> 01:01:20,800 UNITS WE ALSO NEED COVERAGE FOR. 1835 01:01:20,800 --> 01:01:23,840 >> I'M TRAINED AS A PEDIATRICIAN 1836 01:01:23,840 --> 01:01:25,080 BUT SEE LOTS OF ADULTS AND 1837 01:01:25,080 --> 01:01:27,000 ACTUALLY THE FIRST FAMILY THAT 1838 01:01:27,000 --> 01:01:30,240 WE SOLVED BY SEQUENCING, THE 1839 01:01:30,240 --> 01:01:34,440 YOUNGEST MEMBER OF THREE, I 1840 01:01:34,440 --> 01:01:37,960 THINK, WAS OVER 20. 1841 01:01:37,960 --> 01:01:40,240 THIS SIP SHIP HAD BEEN TREATED 1842 01:01:40,240 --> 01:01:41,960 WITH THE COMPLETELY APPROPRIATE 1843 01:01:41,960 --> 01:01:44,920 AND INEFFECTIVE, I MIGHT ADD, 1844 01:01:44,920 --> 01:01:45,960 TREATMENT BECAUSE THE DIAGNOSIS 1845 01:01:45,960 --> 01:01:46,760 WAS WRONG. 1846 01:01:46,760 --> 01:01:48,120 ONCE THE DIAGNOSIS WAS 1847 01:01:48,120 --> 01:01:49,960 ESTABLISHED BY SEQUENCING, THEIR 1848 01:01:49,960 --> 01:01:51,120 ENTIRE TREATMENT REGIMEN 1849 01:01:51,120 --> 01:01:51,520 CHANGED. 1850 01:01:51,520 --> 01:01:53,800 AND I CAN MENTION MANY OTHER 1851 01:01:53,800 --> 01:01:55,840 EXAMPLES OF ADULTS I'VE SEEN 1852 01:01:55,840 --> 01:01:57,200 WHERE DIAGNOSTIC ODYSSEYS HAD 1853 01:01:57,200 --> 01:01:59,840 GONE ON MANY TIMES FOR DECADES, 1854 01:01:59,840 --> 01:02:01,280 AND WHERE RESOLUTION COULD BE 1855 01:02:01,280 --> 01:02:04,240 ACHIEVED AND IN MANY CASES, NEW 1856 01:02:04,240 --> 01:02:08,200 TREATMENTS OFFERED. 1857 01:02:08,200 --> 01:02:10,000 >> ALL RIGHT. 1858 01:02:10,000 --> 01:02:13,320 SO I'VE JUST BEEN NOTIFIED BY 1859 01:02:13,320 --> 01:02:15,000 MAX THAT WE NEED TO GO AHEAD TO 1860 01:02:15,000 --> 01:02:16,480 OUR LAST QUESTION NOW. 1861 01:02:16,480 --> 01:02:18,600 I REQUEST THAT THE RESPONSES ARE 1862 01:02:18,600 --> 01:02:19,600 BRIEF FOR ANY PANELISTS THAT 1863 01:02:19,600 --> 01:02:22,800 WOULD LIKE TO RESPOND. 1864 01:02:22,800 --> 01:02:23,720 WHAT ADVICE WOULD YOU OFFER TO 1865 01:02:23,720 --> 01:02:26,000 THOSE WHO MAY BE INTERESTED IN 1866 01:02:26,000 --> 01:02:30,480 ADVANCING ACCESS TO SEQUENCING? 1867 01:02:30,480 --> 01:02:32,440 SO PRETTY OPEN-ENDED THERE. 1868 01:02:32,440 --> 01:02:35,280 >> OBVIOUSLY AS STEPHEN 1869 01:02:35,280 --> 01:02:36,720 ADDRESSED, PROVIDING BROADER 1870 01:02:36,720 --> 01:02:37,840 COVERAGE FOR IT ACROSS AGE 1871 01:02:37,840 --> 01:02:41,920 GROUPS AND ACROSS STATES. 1872 01:02:41,920 --> 01:02:43,720 >> REACH OUT TO US. 1873 01:02:43,720 --> 01:02:47,880 THERE IS A COMMUNITY INVESTED IN 1874 01:02:47,880 --> 01:02:48,520 HELPING INDIVIDUALS. 1875 01:02:48,520 --> 01:02:49,400 JUST REACH OUT. 1876 01:02:49,400 --> 01:02:50,720 WE CAN'T PROMISE WE CAN HELP, 1877 01:02:50,720 --> 01:02:52,040 BUT WE'LL SURE DO OUR BEST TO 1878 01:02:52,040 --> 01:02:53,280 PUT YOU IN CONTACT WITH THE 1879 01:02:53,280 --> 01:02:55,040 RIGHT PEOPLE. 1880 01:02:55,040 --> 01:02:57,880 >> MY ANSWER WOULD, LISTEN TO 1881 01:02:57,880 --> 01:02:59,280 THE PATIENT COMMUNITY. 1882 01:02:59,280 --> 01:03:01,120 THESE ARE THE PEOPLE WHO KNOW 1883 01:03:01,120 --> 01:03:03,280 BEST, REALLY, WHAT THEIR NEEDS 1884 01:03:03,280 --> 01:03:04,840 ARE, AND I THINK WE HAVE A LOT 1885 01:03:04,840 --> 01:03:07,120 TO LEARN FROM PATIENT ADVOCATES 1886 01:03:07,120 --> 01:03:08,520 AND PEOPLE WHO ARE LIVING THIS 1887 01:03:08,520 --> 01:03:09,840 EVERY DAY. 1888 01:03:09,840 --> 01:03:11,480 >> OKAY. 1889 01:03:11,480 --> 01:03:13,040 SUSIE, PROBABLY MOST 1890 01:03:13,040 --> 01:03:14,640 IMPORTANTLY, WHAT WOULD YOU SAY? 1891 01:03:14,640 --> 01:03:17,920 >> UM, IN MY EXPERIENCE, I KNOW 1892 01:03:17,920 --> 01:03:20,480 THAT THE DOCTORS AND SPECIALISTS 1893 01:03:20,480 --> 01:03:23,000 AND NURSES IN THE HOSPITAL TO 1894 01:03:23,000 --> 01:03:26,000 ALSO BE AWARE OF WHAT GENOME 1895 01:03:26,000 --> 01:03:28,320 SEQUENCING IS, WHERE TO FIND 1896 01:03:28,320 --> 01:03:31,720 THAT, HOW TO ACCESS IT, 1897 01:03:31,720 --> 01:03:32,960 PROVIDING INFORMATION IS KEY, 1898 01:03:32,960 --> 01:03:36,120 BECAUSE WE DID NOT KNOW ANYTHING 1899 01:03:36,120 --> 01:03:38,360 ABOUT IT UNTIL WE HAD A FAMILY 1900 01:03:38,360 --> 01:03:40,240 FRIEND WHO MENTIONED TO US. 1901 01:03:40,240 --> 01:03:41,560 SO THAT'S MY ADVICE. 1902 01:03:41,560 --> 01:03:42,520 >> ALL RIGHT. 1903 01:03:42,520 --> 01:03:43,520 SO AGAIN, THANK YOU ALL FOR 1904 01:03:43,520 --> 01:03:44,920 JOINING US TODAY AND PROVIDING 1905 01:03:44,920 --> 01:03:47,720 YOUR VALUABLE INSIGHT INTO THESE 1906 01:03:47,720 --> 01:03:50,120 VERY, VERY IMPORTANT QUESTIONS 1907 01:03:50,120 --> 01:03:52,200 FOR WHAT WE ALL ASPIRE TO, AND 1908 01:03:52,200 --> 01:03:53,520 THAT IS PROVIDING BEST POSSIBLE 1909 01:03:53,520 --> 01:03:54,920 CARE FOR OUR PATIENTS. 1910 01:03:54,920 --> 01:03:56,600 SO WITH THAT, I'LL TRANSITION 1911 01:03:56,600 --> 01:04:00,120 NOW TO INTRODUCE OUR NEXT 1912 01:04:00,120 --> 01:04:02,680 SPEAKER, LEE FLEISHER, CHIEF 1913 01:04:02,680 --> 01:04:05,520 MEDICAL OFFICER AND DIRECTOR FOR 1914 01:04:05,520 --> 01:04:06,240 THE CENTER FOR CLINICAL 1915 01:04:06,240 --> 01:04:07,280 STANDARDS AND QUALITY WITH THE 1916 01:04:07,280 --> 01:04:08,880 CENTERS FOR MEDICARE AND 1917 01:04:08,880 --> 01:04:10,880 MEDICAID SERVICES. 1918 01:04:10,880 --> 01:04:13,440 SO LEE, YOU'RE ON. 1919 01:04:13,440 --> 01:04:15,320 >> THANK YOU SO MUCH, AND IT'S A 1920 01:04:15,320 --> 01:04:17,800 PRIF LENL TO 1921 01:04:17,800 --> 01:04:19,040 PRIVILEGE TO BE HERE WITH YOU 1922 01:04:19,040 --> 01:04:21,600 TODAY AND TO HEAR HUDSON'S STORY 1923 01:04:21,600 --> 01:04:22,960 AND THE THOUGHTS ABOUT HOW DO 1924 01:04:22,960 --> 01:04:26,880 YOU GET THIS COVERAGE AS SOMEONE 1925 01:04:26,880 --> 01:04:27,840 WHO CONTINUES TO PRACTICE AND 1926 01:04:27,840 --> 01:04:30,000 SOMEONE WHO, IN FACT, BOTH I AND 1927 01:04:30,000 --> 01:04:32,720 MY WIFE, HAVE A GENETIC DISEASE, 1928 01:04:32,720 --> 01:04:34,920 FORTUNATELY WE HAVE TWO HEALTHY 1929 01:04:34,920 --> 01:04:37,640 GROWN ADULTS AT THIS POINT, BUT 1930 01:04:37,640 --> 01:04:39,240 REALLY THE COMMENTS THAT WERE 1931 01:04:39,240 --> 01:04:42,000 MADE ABOUT THE IMPORTANCE AT THE 1932 01:04:42,000 --> 01:04:45,040 BEGINNING OF GENETIC CONCEPTS AS 1933 01:04:45,040 --> 01:04:46,240 A KEY COMPONENT OF THIS, THAT 1934 01:04:46,240 --> 01:04:49,920 WAS REALLY CRITICAL WHEN WE WERE 1935 01:04:49,920 --> 01:04:51,560 MAKING DECISIONS. 1936 01:04:51,560 --> 01:04:56,840 SO YOU KNOW, AS THE CHIEF 1937 01:04:56,840 --> 01:04:59,640 MEDICAL OFFICER FOR CMS, I WANT 1938 01:04:59,640 --> 01:05:02,560 TO FIRST ACKNOWLEDGE THAT REALLY 1939 01:05:02,560 --> 01:05:04,160 WE HAVE TWO DIFFERENT PROGRAMS. 1940 01:05:04,160 --> 01:05:05,520 OUR PROGRAMS DO INFLUENCE HOW 1941 01:05:05,520 --> 01:05:09,320 OTHER INSURERS LOOK AT IT. 1942 01:05:09,320 --> 01:05:10,960 OUR MEDICARE PROGRAM IS TRULY 1943 01:05:10,960 --> 01:05:13,120 NATIONAL, ALTHOUGH EVEN WITHIN 1944 01:05:13,120 --> 01:05:15,840 THAT CONTEXT, THERE'S 1945 01:05:15,840 --> 01:05:18,320 DIFFERENCES BETWEEN DIFFERENT 1946 01:05:18,320 --> 01:05:19,680 MEDICARE ADMINISTRATIVE 1947 01:05:19,680 --> 01:05:21,240 CONTRACTORS OR ESSENTIALLY 1948 01:05:21,240 --> 01:05:24,320 DIFFERENT COMPONENTS WITHIN THE 1949 01:05:24,320 --> 01:05:25,560 COUNTRY, BUT ALSO OUR MEDICAID 1950 01:05:25,560 --> 01:05:27,600 PROGRAM REALLY, AS YOU'VE HEARD 1951 01:05:27,600 --> 01:05:29,560 TODAY, IS STATE-BASED. 1952 01:05:29,560 --> 01:05:32,600 AS WE THINK OF GENOMIC TESTING, 1953 01:05:32,600 --> 01:05:34,440 AND WE AT CMS HAVE THOUGHT QUITE 1954 01:05:34,440 --> 01:05:37,360 A BIT ABOUT, WE ACTUALLY IN 1955 01:05:37,360 --> 01:05:39,760 2018, FOR THE MEDICARE 1956 01:05:39,760 --> 01:05:41,880 POPULATION, HAD THE FIRST NEXT 1957 01:05:41,880 --> 01:05:44,360 GENERATION SEQUENCING NATIONAL 1958 01:05:44,360 --> 01:05:45,320 COVERAGE DECISION. 1959 01:05:45,320 --> 01:05:47,920 AND WE PROVIDE CONSISTENT 1960 01:05:47,920 --> 01:05:51,200 MEDICARE COVERAGE FOR 1961 01:05:51,200 --> 01:05:53,560 FDA-APPROVED OR CLEARED 1962 01:05:53,560 --> 01:05:55,880 DIAGNOSTIC TESTS USING THIS NGS 1963 01:05:55,880 --> 01:05:58,320 OR NATIONAL COVERAGE DECISION 1964 01:05:58,320 --> 01:05:59,600 RELATED TO GENOMIC TESTING THAT 1965 01:05:59,600 --> 01:06:04,520 WAS REALLY BEGAN WITH ADVANCED 1966 01:06:04,520 --> 01:06:07,320 CANCERS MEETING SELECT CRITERIA. 1967 01:06:07,320 --> 01:06:09,840 IN 2020, WE, IN FACT, ADDED 1968 01:06:09,840 --> 01:06:11,440 FDA-APPROVED OR CLEARED 1969 01:06:11,440 --> 01:06:12,880 DIAGNOSTIC TESTS FOR CERTAIN 1970 01:06:12,880 --> 01:06:16,000 PATIENTS WITH GERMLINE TESTING. 1971 01:06:16,000 --> 01:06:19,240 AND FOR LAB TESTS, FOR TESTS 1972 01:06:19,240 --> 01:06:20,760 DEVELOPED AT PLACES LIKE 1973 01:06:20,760 --> 01:06:25,000 UNIVERSITY OF ALABAMA AND OTHER 1974 01:06:25,000 --> 01:06:26,720 SITES, WE ALLOWED THESE 1975 01:06:26,720 --> 01:06:28,280 CONTRACTORS TO DO THAT. 1976 01:06:28,280 --> 01:06:30,720 BUT THE STATES REALLY DO IT 1977 01:06:30,720 --> 01:06:31,440 DIFFERENTLY, AND THAT'S WHAT 1978 01:06:31,440 --> 01:06:35,640 YOU'RE HEARING TODAY, THAT WE AT 1979 01:06:35,640 --> 01:06:38,480 CMS AND PARTICULARLY 1980 01:06:38,480 --> 01:06:43,240 ADMINISTRATOR VERY MUCH WANTS TO 1981 01:06:43,240 --> 01:06:44,200 WORK WITH THE STATE TO PROVIDE 1982 01:06:44,200 --> 01:06:46,680 THE BEST CARE, AND WHAT I HEARD 1983 01:06:46,680 --> 01:06:48,440 WAS IN EQUITABLE FASHION. 1984 01:06:48,440 --> 01:06:49,720 IT SHOULDN'T BE IF YOU'RE IN ONE 1985 01:06:49,720 --> 01:06:51,000 STATE OR ONE AREA, YOU GET 1986 01:06:51,000 --> 01:06:53,920 ACCESS TO CARE. 1987 01:06:53,920 --> 01:06:55,920 BUT WE DO HAVE CERTAIN STATUTORY 1988 01:06:55,920 --> 01:06:57,600 AUTHORITIES THAT REALLY LIMIT 1989 01:06:57,600 --> 01:06:58,640 THIS. 1990 01:06:58,640 --> 01:07:00,680 AND I THINK THAT'S THE KEY 1991 01:07:00,680 --> 01:07:01,720 MESSAGE WHEN YOU WERE ASKING HOW 1992 01:07:01,720 --> 01:07:03,360 DO YOU DO THIS. 1993 01:07:03,360 --> 01:07:06,640 IT'S WORKING WITH YOUR LOCAL 1994 01:07:06,640 --> 01:07:08,280 STATE, BECAUSE THEY CAN 1995 01:07:08,280 --> 01:07:10,360 IMPLEMENT UTILIZATION MANAGEMENT 1996 01:07:10,360 --> 01:07:13,120 TO DETERMINE MEDICAL NECESSITY. 1997 01:07:13,120 --> 01:07:17,000 AS YOU DEFINED HERE TODAY THAT 1998 01:07:17,000 --> 01:07:19,640 IDEA OF DEVELOPING THAT EVIDENCE 1999 01:07:19,640 --> 01:07:22,800 BASE AND MAKING SURE YOU 2000 01:07:22,800 --> 01:07:23,440 ADVOCATE FOR CERTAIN CONDITIONS 2001 01:07:23,440 --> 01:07:25,840 TO BE ABLE TO DO THAT TESTING. 2002 01:07:25,840 --> 01:07:28,320 THE EARLY AND PERIODIC SCREENING 2003 01:07:28,320 --> 01:07:31,320 DIAGNOSTIC AND TREATMENT OR THE 2004 01:07:31,320 --> 01:07:32,480 EPSDT BENEFIT, AS WE CALL IT 2005 01:07:32,480 --> 01:07:35,640 WITHIN THE AGENCY, PROVIDES 2006 01:07:35,640 --> 01:07:36,720 COMPREHENSIVE PREVENTIVE 2007 01:07:36,720 --> 01:07:38,920 HEALTHCARE SERVICES FOR CHILDREN 2008 01:07:38,920 --> 01:07:40,120 UNDER 21 WHO ARE ENROLLED IN 2009 01:07:40,120 --> 01:07:42,160 MEDICAID. 2010 01:07:42,160 --> 01:07:47,320 BUT PER THAT BENEFIT, THE STATE 2011 01:07:47,320 --> 01:07:48,960 MAY DETERMINE THAT GENETIC 2012 01:07:48,960 --> 01:07:51,840 TESTING IS MEDICALLY NECESSARY 2013 01:07:51,840 --> 01:07:54,000 BASED ON INDIVIDUAL 2014 01:07:54,000 --> 01:07:55,160 DETERMINATION FOR CHILDREN UNDER 2015 01:07:55,160 --> 01:07:59,720 21, AND WHAT YOU'LL HEAR NEXT IS 2016 01:07:59,720 --> 01:08:02,000 REALLY WHAT WE SEE AS A PROGRAM 2017 01:08:02,000 --> 01:08:05,280 IN MICHIGAN IN WHICH YOU CAN DO 2018 01:08:05,280 --> 01:08:10,360 RAPID WHOLE GENOME TESTING TO 2019 01:08:10,360 --> 01:08:12,480 PROVIDE HOSPITAL REIMBURSEMENT 2020 01:08:12,480 --> 01:08:17,520 OUTSIDE OF THE DIAGNOSIS-RELATED 2021 01:08:17,520 --> 01:08:18,520 GROUP FOR SPECIFIC TESTING. 2022 01:08:18,520 --> 01:08:21,080 SO I THINK THE REAL THEME YOU 2023 01:08:21,080 --> 01:08:23,720 HEAR FROM ME TODAY IS, WE ARE 2024 01:08:23,720 --> 01:08:24,800 SUPPORTIVE AND THAT AS YOU WORK 2025 01:08:24,800 --> 01:08:30,920 WITH THE STATES, WE LK LOOK FORWARD 2026 01:08:30,920 --> 01:08:32,040 TO HEARING FROM THE STATES TO 2027 01:08:32,040 --> 01:08:33,320 PROPOSE A PLAN TO EVALUATE SO 2028 01:08:33,320 --> 01:08:35,240 THAT WE CAN EXPAND THOSE 2029 01:08:35,240 --> 01:08:37,440 PROGRAMS THAT SERVE THE PEOPLE 2030 01:08:37,440 --> 01:08:41,000 WE SERVE SO WELL, AS IS THE 2031 01:08:41,000 --> 01:08:42,880 THEME FROM OUR ADMINISTRATOR, AS 2032 01:08:42,880 --> 01:08:48,640 WELL AS REALLY ENSURING THAT 2033 01:08:48,640 --> 01:08:49,560 PEOPLE GET EQUITABLE CARE. 2034 01:08:49,560 --> 01:08:52,240 SO WITH THAT, I'LL TURN IT OVER 2035 01:08:52,240 --> 01:08:53,160 TO WENDY FROM THE UNIVERSITY OF 2036 01:08:53,160 --> 01:08:54,240 MICHIGAN TO MODERATE THE NEXT 2037 01:08:54,240 --> 01:09:03,720 PANEL. 2038 01:09:03,720 --> 01:09:06,120 >> I AM A GENETIC COUNSELOR AND 2039 01:09:06,120 --> 01:09:07,120 CLINICAL PROFESSOR AT THE 2040 01:09:07,120 --> 01:09:20,240 UNIVERSITY OF MICHIGAN. 2041 01:09:20,240 --> 01:09:23,240 GOOD AFTERNOON, MY NAME IS WENDY 2042 01:09:23,240 --> 01:09:24,520 UHLMANN, I'M A GENETIC COUNSELOR 2043 01:09:24,520 --> 01:09:25,360 AND CLINICAL PROFESSOR AT THE 2044 01:09:25,360 --> 01:09:25,880 UNIVERSITY OF MICHIGAN. 2045 01:09:25,880 --> 01:09:27,960 I HAVE BEEN ASKED TO GIVE A 2046 01:09:27,960 --> 01:09:28,680 THREE-MINUTE INTRODUCTION TO 2047 01:09:28,680 --> 01:09:31,520 THIS PANEL, WHICH ACCORDING TO 2048 01:09:31,520 --> 01:09:34,360 MY GOOGLE SEARCH, IS 450 WORDS. 2049 01:09:34,360 --> 01:09:36,120 THE STATE OF MICHIGAN HAS A RICH 2050 01:09:36,120 --> 01:09:38,520 HISTORY IN GENETICS. 2051 01:09:38,520 --> 01:09:40,360 THE FIRST GENETICS CLINIC IN THE 2052 01:09:40,360 --> 01:09:41,880 WORLD WAS LAUNCHED AT THE 2053 01:09:41,880 --> 01:09:45,400 UNIVERSITY OF MICHIGAN IN 1941. 2054 01:09:45,400 --> 01:09:47,040 OUR STATE HAS HAD A PUBLIC 2055 01:09:47,040 --> 01:09:50,400 HEALTH GENETICS PROGRAM SINCE 2056 01:09:50,400 --> 01:09:52,520 1979, WITH GENETIC OUTREACH 2057 01:09:52,520 --> 01:09:55,000 CLINICS OFFERED IN THE UPPER 2058 01:09:55,000 --> 01:09:56,600 PENINSULA AND OTHER PARTS OF THE 2059 01:09:56,600 --> 01:09:59,800 STATE SINCE 1980. 2060 01:09:59,800 --> 01:10:03,720 IN 2000, EIGHT YEARS BEFORE THE 2061 01:10:03,720 --> 01:10:06,760 PASSAGE OF GANA, THE GENETIC 2062 01:10:06,760 --> 01:10:08,680 NON-DISCRIMINATION ACT, MICHIGAN 2063 01:10:08,680 --> 01:10:10,080 BECAME AMONG THE EARLY STATES TO 2064 01:10:10,080 --> 01:10:12,840 PASS LEGISLATION TO PREVENT 2065 01:10:12,840 --> 01:10:15,800 GENETIC DISCRIMINATION BY HEALTH 2066 01:10:15,800 --> 01:10:20,040 INSURERS AND EMPLOYERS. 2067 01:10:20,040 --> 01:10:20,840 SINCE 2000, MICHIGAN HAS BEEN 2068 01:10:20,840 --> 01:10:25,760 ONE OF THE FEW STATES WITH A LAW 2069 01:10:25,760 --> 01:10:26,720 THAT REQUIRES HEALTHCARE 2070 01:10:26,720 --> 01:10:28,200 PROFESSIONALS TO FULLY INFORM 2071 01:10:28,200 --> 01:10:30,760 PATIENTS HAVING PRESYMPTOMATIC 2072 01:10:30,760 --> 01:10:32,120 OR PREDICTIVE GENETIC TESTING 2073 01:10:32,120 --> 01:10:35,720 ABOUT THE BENEFITS, RISKS AND 2074 01:10:35,720 --> 01:10:36,600 LIMITATIONS BEFORE TESTING IS 2075 01:10:36,600 --> 01:10:38,960 DONE. 2076 01:10:38,960 --> 01:10:41,960 FOR OVER THREE DECADES, I HAVE 2077 01:10:41,960 --> 01:10:43,720 PROVIDED GENETIC COUNSELING TO 2078 01:10:43,720 --> 01:10:46,960 ADULT PATIENTS. 2079 01:10:46,960 --> 01:10:47,720 PATIENTS FACE INSURANCE COVERAGE 2080 01:10:47,720 --> 01:10:49,560 AND OTHER BARRIERS TO ACCESS 2081 01:10:49,560 --> 01:10:50,680 GENETIC SERVICES AND GENETIC 2082 01:10:50,680 --> 01:10:52,320 TESTING. 2083 01:10:52,320 --> 01:10:53,960 THE INABILITY FOR PATIENTS TO 2084 01:10:53,960 --> 01:10:56,080 HAVE GENETIC TESTING AND 2085 01:10:56,080 --> 01:10:57,520 IDENTIFY THE GENETIC CAUSE FOR 2086 01:10:57,520 --> 01:11:00,520 THEIR MEDICAL CONDITION HAS 2087 01:11:00,520 --> 01:11:01,960 IMPLICATIONS NOT ONLY FOR THE 2088 01:11:01,960 --> 01:11:03,880 PATIENT'S CARE, BUT POTENTIALLY 2089 01:11:03,880 --> 01:11:07,680 FOR THEIR OTHER RELATIVES AS 2090 01:11:07,680 --> 01:11:08,400 WELL. 2091 01:11:08,400 --> 01:11:11,160 OFTEN IT IS NECESSARY TO TEST AN 2092 01:11:11,160 --> 01:11:12,960 AFFECTED INDIVIDUAL TO SEE IF A 2093 01:11:12,960 --> 01:11:15,720 GENE CHANGE IS IDENTIFIABLE 2094 01:11:15,720 --> 01:11:17,240 BEFORE AT-RISK FAMILY MEMBERS 2095 01:11:17,240 --> 01:11:19,920 CAN BE TESTED. 2096 01:11:19,920 --> 01:11:22,320 FACILITATING WHAT IS KNOWN AS 2097 01:11:22,320 --> 01:11:25,760 CASCADE SCREENING. 2098 01:11:25,760 --> 01:11:27,320 THEREFORE, THE IMPACT OF GENETIC 2099 01:11:27,320 --> 01:11:30,520 TESTING EXTENDS BEYOND THE 2100 01:11:30,520 --> 01:11:32,400 PATIENT TO FAMILY MEMBERS, AND 2101 01:11:32,400 --> 01:11:35,120 CAN ALSO HAVE IMPACT BEYOND 2102 01:11:35,120 --> 01:11:37,960 MEDICAL CARE TO REPRODUCTIVE AND 2103 01:11:37,960 --> 01:11:39,760 LIFE DECISIONS. 2104 01:11:39,760 --> 01:11:42,720 WHEN I WAS CONTACTED BY MAX 2105 01:11:42,720 --> 01:11:43,720 BRONSTEIN, I WAS IMPRESSED TO 2106 01:11:43,720 --> 01:11:46,840 LEARN THAT MICHIGAN, IN 2021, 2107 01:11:46,840 --> 01:11:49,680 BECAME THE FIRST STATE TO MAKE 2108 01:11:49,680 --> 01:11:52,360 RAPID WHOLE GENOME SEQUENCING A 2109 01:11:52,360 --> 01:11:54,440 COVERED BENEFIT FOR ELIGIBLE 2110 01:11:54,440 --> 01:11:57,600 INFANTS WITH MEDICAID INSURANCE, 2111 01:11:57,600 --> 01:11:59,920 AND THAT INDEPENDENTLY, BLUE 2112 01:11:59,920 --> 01:12:01,320 CROSS/BLUE SHIELD OF MICHIGAN 2113 01:12:01,320 --> 01:12:05,480 ALSO MADE A SIMILAR COVERAGE 2114 01:12:05,480 --> 01:12:05,920 DECISION. 2115 01:12:05,920 --> 01:12:07,520 WHILE THIS IS AN IMPORTANT FIRST 2116 01:12:07,520 --> 01:12:09,960 STEP IN ADDRESSING EQUITY IN 2117 01:12:09,960 --> 01:12:13,520 CLINICAL GENOMIC SCWEEPSING SEQUENCING 2118 01:12:13,520 --> 01:12:14,480 ACCESS, IT IS LIMITED TO 2119 01:12:14,480 --> 01:12:16,520 INFANTS. 2120 01:12:16,520 --> 01:12:18,040 THEREFORE, WE ARE JUST BEGINNING 2121 01:12:18,040 --> 01:12:19,720 TO ADDRESS THE NEEDS OF PATIENTS 2122 01:12:19,720 --> 01:12:21,920 IN THIS SPACE, AND NEED TO 2123 01:12:21,920 --> 01:12:24,800 CONSIDER HOW TO EXTEND INSURANCE 2124 01:12:24,800 --> 01:12:25,840 COVERAGE TO PATIENTS OF ALL 2125 01:12:25,840 --> 01:12:29,320 AGES. 2126 01:12:29,320 --> 01:12:30,920 LIKE EVERYONE ATTENDING TODAY, I 2127 01:12:30,920 --> 01:12:32,920 AM INTERESTED IN LEARNING HOW 2128 01:12:32,920 --> 01:12:34,320 INSURANCE COVERAGE DECISIONS 2129 01:12:34,320 --> 01:12:36,640 WERE SUCCESSFULLY ACHIEVED FOR 2130 01:12:36,640 --> 01:12:39,000 GENOMIC SEQUENCING OF ELIGIBLE 2131 01:12:39,000 --> 01:12:44,560 INFANTS AND ESPECIALLY FOR A NEW 2132 01:12:44,560 --> 01:12:44,960 TECHNOLOGY. 2133 01:12:44,960 --> 01:12:46,120 THANK YOU TO ATTENDEES FOR 2134 01:12:46,120 --> 01:12:47,520 SUBMITTING SO MANY THOUGHTFUL 2135 01:12:47,520 --> 01:12:51,320 QUESTIONS OF WHICH JUST A 2136 01:12:51,320 --> 01:12:52,640 PORTION CAN BE ADDRESSED TODAY. 2137 01:12:52,640 --> 01:12:54,120 I'VE DONE THE MATH, WE ACTUALLY 2138 01:12:54,120 --> 01:12:55,320 HAVE 11 QUESTIONS THAT WE HOPE 2139 01:12:55,320 --> 01:12:56,520 TO GET THROUGH, BUT ACTUALLY IF 2140 01:12:56,520 --> 01:12:57,720 YOU COUNT THE SUBQUESTIONS, 2141 01:12:57,720 --> 01:12:59,520 WE'RE UP TO 18. 2142 01:12:59,520 --> 01:13:01,120 SO I WANT TO GET STARTED HERE, 2143 01:13:01,120 --> 01:13:03,720 AND IT IS MY PRIVILEGE AND HONOR 2144 01:13:03,720 --> 01:13:11,040 TO INTRODUCE OUR PANEL SPEAKERS. 2145 01:13:11,040 --> 01:13:13,000 DR. LYNNE CARTER, MEDICAL 2146 01:13:13,000 --> 01:13:13,680 DIRECTOR, BLUE CROSS/BLUE SHIELD 2147 01:13:13,680 --> 01:13:15,120 OF MICHIGAN. 2148 01:13:15,120 --> 01:13:17,080 LAURA APPEL, EXECUTIVE VICE 2149 01:13:17,080 --> 01:13:18,000 PRESIDENT OF GOVERNMENT 2150 01:13:18,000 --> 01:13:20,720 RELATIONS AND PUBLIC POLICY, 2151 01:13:20,720 --> 01:13:22,000 MICHIGAN HEALTH & HOSPITAL 2152 01:13:22,000 --> 01:13:24,640 ASSOCIATION. 2153 01:13:24,640 --> 01:13:28,200 BRIAN KEISLING, DIRECTOR, BUREAU 2154 01:13:28,200 --> 01:13:30,920 OF MEDICAID POLICY, MICHIGAN 2155 01:13:30,920 --> 01:13:31,520 DEPARTMENT OF HEALTH & HUMAN 2156 01:13:31,520 --> 01:13:33,920 SERVICES. 2157 01:13:33,920 --> 01:13:38,120 AND DR. CALEB BUPP, DIVISION 2158 01:13:38,120 --> 01:13:41,120 CHIEF OF MEDICAL GENETICS AND 2159 01:13:41,120 --> 01:13:44,040 GENOMICS, BEAUMONT HEALTH 2160 01:13:44,040 --> 01:13:47,440 SPECTRUM HEALTH AND HELEN DEVOS 2161 01:13:47,440 --> 01:13:47,880 CHILDREN'S HOSPITAL. 2162 01:13:47,880 --> 01:13:49,280 SO OUR FIRST QUESTION IS GOING 2163 01:13:49,280 --> 01:13:51,440 TO GO TO CALEB. 2164 01:13:51,440 --> 01:13:53,520 IN THE FIRST PANEL, WE HEARD 2165 01:13:53,520 --> 01:13:55,400 ABOUT THE CLINICAL UTILITY OF 2166 01:13:55,400 --> 01:13:57,520 SEQUENCING AND THE REMARKABLE 2167 01:13:57,520 --> 01:13:59,200 DIAGNOSTIC DATA FROM STATE 2168 01:13:59,200 --> 01:13:59,520 PILOT. 2169 01:13:59,520 --> 01:14:04,200 CAN YOU TELL THE AUDIENCE ABOUT 2170 01:14:04,200 --> 01:14:05,280 HOW PROJECT BABY BEAR CAME 2171 01:14:05,280 --> 01:14:06,400 TOGETHER AND WHAT WERE THE KEY 2172 01:14:06,400 --> 01:14:06,960 FINDINGS? 2173 01:14:06,960 --> 01:14:08,120 >> SURE. 2174 01:14:08,120 --> 01:14:08,920 THANKS, EVERYBODY, FOR THE 2175 01:14:08,920 --> 01:14:10,520 CHANCE TO TALK ABOUT OUR HOME 2176 01:14:10,520 --> 01:14:12,520 STATE HERE. 2177 01:14:12,520 --> 01:14:14,560 SO PROJECT BABY DEAR STARTED AS 2178 01:14:14,560 --> 01:14:17,120 A CONVERSATION AT LUNCH. 2179 01:14:17,120 --> 01:14:19,000 I WAS AT THE FRONTIERS IN 2180 01:14:19,000 --> 01:14:20,880 PEDIATRIC GENOMIC MEDICINE 2181 01:14:20,880 --> 01:14:22,320 CONFERENCE AND WAS EATING LUNCH 2182 01:14:22,320 --> 01:14:23,920 WITH A NEONATOLOGIST FROM 2183 01:14:23,920 --> 01:14:26,000 ANOTHER HOSPITAL IN MICHIGAN, 2184 01:14:26,000 --> 01:14:27,960 DR. ANDREA SHERR, AND WE HAD 2185 01:14:27,960 --> 01:14:30,920 JUST HEARD A PRESENTATION ABOUT 2186 01:14:30,920 --> 01:14:31,880 PROJECT BABY BEAR, WHICH YOU 2187 01:14:31,880 --> 01:14:35,720 HEARD ABOUT A LITTLE EARLIER. 2188 01:14:35,720 --> 01:14:37,320 HERE IN MICHIGAN WE STARTED 2189 01:14:37,320 --> 01:14:39,000 USING RAPID GENOME SEQUENCING 2190 01:14:39,000 --> 01:14:39,960 ABOUT A YEAR AHEAD OF THAT 2191 01:14:39,960 --> 01:14:40,720 CONFERENCE BECAUSE WE WERE 2192 01:14:40,720 --> 01:14:42,240 LOOKING AT KIND OF WHAT WAS 2193 01:14:42,240 --> 01:14:43,440 COMING NEXT FOR THE CARE OF 2194 01:14:43,440 --> 01:14:45,320 CHILDREN AND ABOUT AN HOUR SOUTH 2195 01:14:45,320 --> 01:14:48,120 OF US AT ANOTHER HOSPITAL, 2196 01:14:48,120 --> 01:14:48,720 BRONSON CHILDREN'S HOSPITAL, 2197 01:14:48,720 --> 01:14:49,960 THEY WERE STARTING TO SAY HOW 2198 01:14:49,960 --> 01:14:51,840 CAN WE USE GENOME SEQUENCING 2199 01:14:51,840 --> 01:14:52,360 TOO? 2200 01:14:52,360 --> 01:14:54,120 SO OUR HOSPITALS ARE A LITTLE 2201 01:14:54,120 --> 01:14:55,320 DIFFERENT, SO OUR CHILDREN'S 2202 01:14:55,320 --> 01:14:58,680 HOSPITAL WHERE I'M AT HAS A 2203 01:14:58,680 --> 01:15:00,640 LEVEL FOUR NICU, BRONSON HAS A 2204 01:15:00,640 --> 01:15:01,880 LEVEL 3, ABOUT HALF THE SIZE BUT 2205 01:15:01,880 --> 01:15:04,800 TURNS OUT BOTH NICUs HAVE 2206 01:15:04,800 --> 01:15:05,880 CHILDREN WITH GENETIC DISEASES 2207 01:15:05,880 --> 01:15:06,120 IN THEM. 2208 01:15:06,120 --> 01:15:08,960 SO WE STARTED TO BUILD THIS 2209 01:15:08,960 --> 01:15:09,600 RELATIONSHIP TALKING BACK AND 2210 01:15:09,600 --> 01:15:10,160 FORTH. 2211 01:15:10,160 --> 01:15:12,360 WE WERE SITTING AT LUNCH AND 2212 01:15:12,360 --> 01:15:14,120 ANDREA SAID TO ME THAT BABY BEAR 2213 01:15:14,120 --> 01:15:15,360 THING WAS REALLY COOL. 2214 01:15:15,360 --> 01:15:17,320 WE SHOULD DO THAT IN MICHIGAN. 2215 01:15:17,320 --> 01:15:18,800 I'LL GIVE HER ALL THE CREDIT, 2216 01:15:18,800 --> 01:15:20,920 SHE SAID WE'LL CALL IT PROJECT 2217 01:15:20,920 --> 01:15:21,280 BABY DEAR. 2218 01:15:21,280 --> 01:15:22,960 SO WE LEFT THAT CONFERENCE AND 2219 01:15:22,960 --> 01:15:24,760 CONNECTED WITH MHA AND MHA EVERY 2220 01:15:24,760 --> 01:15:26,280 YEAR CONVENES A CHILDREN'S 2221 01:15:26,280 --> 01:15:28,560 COUNCIL WHERE THEY BRING 2222 01:15:28,560 --> 01:15:30,120 TOGETHER LEADER FROM ALL THE 2223 01:15:30,120 --> 01:15:31,080 HEALTH SYSTEMS IN MICHIGAN FOR 2224 01:15:31,080 --> 01:15:32,520 SORT OF JUST AN UPDATE, SO WE 2225 01:15:32,520 --> 01:15:34,360 WENT AND TALKED ABOUT RAPID 2226 01:15:34,360 --> 01:15:35,480 WHOLE GENOME SEQUENCING, REALLY 2227 01:15:35,480 --> 01:15:37,280 IT WAS MEANT TO BE EDUCATIONAL, 2228 01:15:37,280 --> 01:15:38,960 AND THAT ROOM, IT WAS ONE OF 2229 01:15:38,960 --> 01:15:40,280 THOSE TIMES WHERE JUST THE LIGHT 2230 01:15:40,280 --> 01:15:42,120 BULBS WENT ON, ABOVE EVERYBODY'S 2231 01:15:42,120 --> 01:15:42,320 HEAD. 2232 01:15:42,320 --> 01:15:44,000 IT WAS LIKE, WOW, THIS IS REALLY 2233 01:15:44,000 --> 01:15:48,800 COOL, WE COULD DO THIS IN 2234 01:15:48,800 --> 01:15:49,760 MICHIGAN. 2235 01:15:49,760 --> 01:15:52,480 SO WHAT THAT LED TO WAS PROJECT 2236 01:15:52,480 --> 01:15:53,920 BABY DEAR, AND WE MET LATE IN 2237 01:15:53,920 --> 01:15:55,360 THE YEAR RIGHT BEFORE 2238 01:15:55,360 --> 01:15:57,520 THANKSGIVING FOR A STAKEHOLDER'S 2239 01:15:57,520 --> 01:15:58,640 MEETING, INVITED EVERY 2240 01:15:58,640 --> 01:15:59,920 CHILDREN'S HOSPITAL IN THE STATE 2241 01:15:59,920 --> 01:16:01,560 TO HAVE REPRESENTATION AND WE 2242 01:16:01,560 --> 01:16:02,680 KIND OF TALKED THROUGH THIS, 2243 01:16:02,680 --> 01:16:03,920 WHAT WOULD THIS LOOK LIKE, WHAT 2244 01:16:03,920 --> 01:16:04,960 COULD WE DO. 2245 01:16:04,960 --> 01:16:07,920 WHAT WE SELL THE SETTLED ON WAS OPENING 2246 01:16:07,920 --> 01:16:09,520 UP ACCESS TO RAPID WHOLE GENOME 2247 01:16:09,520 --> 01:16:10,520 SEQUENCING TO EVERY CENTER IN 2248 01:16:10,520 --> 01:16:10,760 MICHIGAN. 2249 01:16:10,760 --> 01:16:14,360 WE TALKED ABOUT NOT CAPPING THE 2250 01:16:14,360 --> 01:16:16,800 AGE AT 1 OR 12, WE JUST SAID, 2251 01:16:16,800 --> 01:16:18,680 HEY, WHATEVER AGE, AND IT ALSO 2252 01:16:18,680 --> 01:16:23,600 DIDN'T MATTER WHAT INSURANCE 2253 01:16:23,600 --> 01:16:25,720 PATIENTS HAD. 2254 01:16:25,720 --> 01:16:27,520 WE ACTIVELY ENGAGED WITH PAYORS 2255 01:16:27,520 --> 01:16:28,160 IN OUR STATE PARTICULARLY WITH 2256 01:16:28,160 --> 01:16:31,520 THE HELP OF MHA WORKING WITH MDH 2257 01:16:31,520 --> 01:16:33,400 RIGHT OFF THE BAT AND GATHERING 2258 01:16:33,400 --> 01:16:35,000 USEFUL ECONOMIC DATA AS WE WENT 2259 01:16:35,000 --> 01:16:37,000 THROUGH THIS USING SORT OF A 2260 01:16:37,000 --> 01:16:38,400 STANDARD CLINICAL ASSESSMENT. 2261 01:16:38,400 --> 01:16:40,800 SO WHAT WE LEARNED THE LAST 2262 01:16:40,800 --> 01:16:43,400 SNAPSHOT WE DID WAS ABOUT 90 2263 01:16:43,400 --> 01:16:44,520 KIDS THROUGHOUT THE STATE OF 2264 01:16:44,520 --> 01:16:44,760 MICHIGAN. 2265 01:16:44,760 --> 01:16:47,160 WE WERE REALLY EXCITED THAT THE 2266 01:16:47,160 --> 01:16:50,000 RACE AND ETHNICITY FAIRLY 2267 01:16:50,000 --> 01:16:50,920 MATCHED WHAT MICHIGAN LOOKS LIKE 2268 01:16:50,920 --> 01:16:51,880 IN GENERAL, AND WE SAW WHAT 2269 01:16:51,880 --> 01:16:53,320 OTHERS HAD SEEN, A DIAGNOSTIC 2270 01:16:53,320 --> 01:16:56,440 RATE OF ABOUT 39%, A CHANGE IN 2271 01:16:56,440 --> 01:16:58,520 MANAGEMENT OF 27%, AND I THINK 2272 01:16:58,520 --> 01:17:00,520 STEPHEN SHARED EARLIER THERE ARE 2273 01:17:00,520 --> 01:17:01,400 MULTIPLE STUDYS THAT HAVE SHOWN 2274 01:17:01,400 --> 01:17:01,920 THIS. 2275 01:17:01,920 --> 01:17:03,440 SO WE WEREN'T NECESSARILY DOING 2276 01:17:03,440 --> 01:17:04,840 ANYTHING NOVEL, BUT WHAT WE WERE 2277 01:17:04,840 --> 01:17:06,760 DOING WAS BEING TRUE TO OUR WORD 2278 01:17:06,760 --> 01:17:10,200 AS SORT OF A GRASSROOTS GROUP 2279 01:17:10,200 --> 01:17:11,440 THAT, HEY, WE WERE GOING TO 2280 01:17:11,440 --> 01:17:12,520 STUDY THIS, WE WERE GOING TO 2281 01:17:12,520 --> 01:17:14,520 LOOK AT IT, WE WERE GOING TO 2282 01:17:14,520 --> 01:17:16,720 PROVIDE THAT INFO BACK AND FORTH 2283 01:17:16,720 --> 01:17:18,000 TO SHARE AND WE ALSO SAW THE 2284 01:17:18,000 --> 01:17:18,960 FINANCIAL SAVINGS AS WELL. 2285 01:17:18,960 --> 01:17:20,160 SO THAT'S A LITTLE ABOUT HOW 2286 01:17:20,160 --> 01:17:22,080 THINGS STARTED AND THEN WE'LL 2287 01:17:22,080 --> 01:17:23,000 TALK ABOUT WHERE THINGS HAVE 2288 01:17:23,000 --> 01:17:24,080 GONE FROM HERE. 2289 01:17:24,080 --> 01:17:24,560 >> FANTASTIC. 2290 01:17:24,560 --> 01:17:28,040 I THINK THERE'S A BABY MANATEE 2291 01:17:28,040 --> 01:17:31,800 PROJECT IN FLORIDA AND I HOPE 2292 01:17:31,800 --> 01:17:33,600 WE'LL RUN OUT OF ANIMALS AS ALL 2293 01:17:33,600 --> 01:17:35,080 THE STATES FOLLOW SUIT. 2294 01:17:35,080 --> 01:17:36,760 SO THIS QUESTION IS GOING TO 2295 01:17:36,760 --> 01:17:38,000 ACTUALLY BE TO LAURA. 2296 01:17:38,000 --> 01:17:40,480 HOW DID THE MHA LEVERAGE THE 2297 01:17:40,480 --> 01:17:41,720 DATA FROM PROJECT BABY DEAR, AND 2298 01:17:41,720 --> 01:17:43,080 CAN YOU TELL US MORE ABOUT THE 2299 01:17:43,080 --> 01:17:44,160 EDUCATION CAMPAIGN THAT YOU 2300 01:17:44,160 --> 01:17:45,520 HELPED TO LEAD AND WHO WERE THE 2301 01:17:45,520 --> 01:17:47,320 KEY PARTNERS IN DRIVING THE 2302 01:17:47,320 --> 01:17:47,720 CAMPAIGN FORWARD? 2303 01:17:47,720 --> 01:17:49,000 SO I GUESS THAT'S THREE 2304 01:17:49,000 --> 01:17:51,560 QUESTIONS IN ONE. 2305 01:17:51,560 --> 01:17:52,920 TAKE THEM IN ANY ORDER YOU WANT. 2306 01:17:52,920 --> 01:17:55,080 >> I THINK I'LL START WITH KIND 2307 01:17:55,080 --> 01:17:59,480 OF PART 21ST, AND THAT IS, YOU -- PART 2 1 ST, HOW 2308 01:17:59,480 --> 01:18:05,000 DID WE JUMP OFF -- DR. SHERR 2309 01:18:05,000 --> 01:18:06,560 CAME TO US AND HAD THIS 2310 01:18:06,560 --> 01:18:08,160 CONVERSATION AT THE CHILDREN'S 2311 01:18:08,160 --> 01:18:08,400 COUNCIL. 2312 01:18:08,400 --> 01:18:10,560 WE DID THINK TO OURSELVES, HEY, 2313 01:18:10,560 --> 01:18:11,720 MAYBE WE COULD GET A LITTLE 2314 01:18:11,720 --> 01:18:12,560 APPROPRIATION FOR THIS AND SEE 2315 01:18:12,560 --> 01:18:14,080 IF WE COULD GET IT STARTED THAT 2316 01:18:14,080 --> 01:18:17,320 WAY, BUT ALSO PROBABLY REALLY 2317 01:18:17,320 --> 01:18:20,280 OUR FIRST PARTNER WAS THERE IS A 2318 01:18:20,280 --> 01:18:21,040 FOUNDATION THAT'S ASSOCIATED 2319 01:18:21,040 --> 01:18:24,880 WITH ONE OF OUR CHILDREN'S 2320 01:18:24,880 --> 01:18:25,200 HOSPITALS. 2321 01:18:25,200 --> 01:18:28,640 WE WENT TO THEM, IT WAS AT THE 2322 01:18:28,640 --> 01:18:32,720 TIME CALLED CHILDREN'S 2323 01:18:32,720 --> 01:18:36,120 MICHIGAN -- FOUNDATION, BUT A 2324 01:18:36,120 --> 01:18:37,600 LITTLE BIT OF MONEY TO GET THIS 2325 01:18:37,600 --> 01:18:38,000 OFF THE GROUND. 2326 01:18:38,000 --> 01:18:39,160 SO THEY WERE A WONDERFUL 2327 01:18:39,160 --> 01:18:41,280 PARTNER, YOU CAN TELL BY THEIR 2328 01:18:41,280 --> 01:18:43,440 NAME THEY'RE FOCUSED ON KIDS, 2329 01:18:43,440 --> 01:18:45,800 AND THEN WE TOOK THAT -- WE 2330 01:18:45,800 --> 01:18:47,560 BUILT FROM THAT, WE UNDERSTOOD 2331 01:18:47,560 --> 01:18:48,800 MORE ABOUT HOW THIS ALL WORKS 2332 01:18:48,800 --> 01:18:54,160 AND WHAT THE OUTCOMES ARE AND 2333 01:18:54,160 --> 01:18:55,720 FOR A SMALL APPROPRIATION, WE 2334 01:18:55,720 --> 01:18:57,040 WERE LOOKING FOR GETTING THIS 2335 01:18:57,040 --> 01:18:58,200 MATCHED BY MEDICAID AND ALSO 2336 01:18:58,200 --> 01:19:00,720 SOME PRIVATE DOLLARS, SO WE'RE 2337 01:19:00,720 --> 01:19:06,920 TRYING TO GIVE IT A VERY SMALL 2338 01:19:06,920 --> 01:19:08,360 APPROPRIATION, AND SO LONG STORY 2339 01:19:08,360 --> 01:19:09,800 LONG, WE GOT THE MONEY 2340 01:19:09,800 --> 01:19:12,680 APPROPRIATED IN A BUDGET, IN A 2341 01:19:12,680 --> 01:19:14,720 STATE BUDGET, AND NOW IT'S TIME 2342 01:19:14,720 --> 01:19:17,080 TO TALK TO OUR MICHIGAN 2343 01:19:17,080 --> 01:19:17,680 DEPARTMENT OF HEALTH AND HUMAN 2344 01:19:17,680 --> 01:19:18,440 SERVICES, WHO BRIAN REPRESENTS 2345 01:19:18,440 --> 01:19:22,120 HERE, AND WE DID HAVE SOME DATA, 2346 01:19:22,120 --> 01:19:24,520 AND AS CALEB MENTIONED, AND IT 2347 01:19:24,520 --> 01:19:26,080 WAS VERY SIMILAR TO WHAT 2348 01:19:26,080 --> 01:19:27,240 DR. KINGSMORE MENTIONED EARLIER. 2349 01:19:27,240 --> 01:19:30,920 YOU COULD SEE THAT -- I ASKED A 2350 01:19:30,920 --> 01:19:31,720 PHYSICIAN TOTALLY SEPARATE ALL 2351 01:19:31,720 --> 01:19:34,320 OF THIS FROM ONE TIME, I SAID, 2352 01:19:34,320 --> 01:19:35,840 YOU KNOW, ABOUT ONE OUT OF THREE 2353 01:19:35,840 --> 01:19:37,600 TIMES THE CHANGE IN THE 2354 01:19:37,600 --> 01:19:40,720 MANAGEMENT HAPPENS, AND I SAID 2355 01:19:40,720 --> 01:19:42,200 IS THAT A LOT, IS THAT A LITTLE, 2356 01:19:42,200 --> 01:19:43,720 LIKE HOW DOES IT FIT? 2357 01:19:43,720 --> 01:19:44,600 I'M NOT A CLINICIAN. 2358 01:19:44,600 --> 01:19:45,680 HE SAID, THAT'S A LOT. 2359 01:19:45,680 --> 01:19:47,080 SO I THOUGHT, OKAY, THAT'S GOOD 2360 01:19:47,080 --> 01:19:49,200 TO KNOW. 2361 01:19:49,200 --> 01:19:50,720 BUT I WANT TO BE REALLY CLEAR 2362 01:19:50,720 --> 01:19:52,720 THAT, YOU KNOW, I REMEMBER THE 2363 01:19:52,720 --> 01:19:53,920 VERY FIRST MEETING THAT WE HAD 2364 01:19:53,920 --> 01:19:56,880 WITH BRIAN'S TEAM BETWEEN MHA 2365 01:19:56,880 --> 01:20:01,360 AND BRIAN'S GROUP, AND MEDICAID 2366 01:20:01,360 --> 01:20:02,880 IN OUR STATE -- IT WAS CALLED 2367 01:20:02,880 --> 01:20:04,080 THE MEDICAL SERVICES 2368 01:20:04,080 --> 01:20:05,160 ADMINISTRATION, MSA. 2369 01:20:05,160 --> 01:20:07,520 OUR RELATIONSHIP WITH MSA IS 2370 01:20:07,520 --> 01:20:09,040 SOMETHING THAT GOES WAY BACK. 2371 01:20:09,040 --> 01:20:10,960 THERE ARE PEOPLE HERE AT MHA 2372 01:20:10,960 --> 01:20:13,680 THAT HAVE A LONG-STANDING 2373 01:20:13,680 --> 01:20:14,720 RELATIONSHIP SPECIFICALLY WITH 2374 01:20:14,720 --> 01:20:16,560 MEMBERS OF THAT TEAM, AND IT WAS 2375 01:20:16,560 --> 01:20:18,440 VERY MUCH ONE OF THOSE 2376 01:20:18,440 --> 01:20:20,160 SITUATIONS WHERE WE WERE NOT 2377 01:20:20,160 --> 01:20:21,080 MAKING FRIENDS THE DAY WE NEEDED 2378 01:20:21,080 --> 01:20:21,800 THEM. 2379 01:20:21,800 --> 01:20:25,840 SO WE CAME AT IT WITH -- THERE 2380 01:20:25,840 --> 01:20:30,000 WERE MANY WAYS THAT MHA AND MSA 2381 01:20:30,000 --> 01:20:31,520 INTERSECT, AND I THINK THE OTHER 2382 01:20:31,520 --> 01:20:35,320 THING, THOUGH, THAT WAS REALLY 2383 01:20:35,320 --> 01:20:36,200 REWARDING WAS THE FIRST 2384 01:20:36,200 --> 01:20:38,480 CONVERSATION WE HAD WITH MDHHS. 2385 01:20:38,480 --> 01:20:40,040 IT WAS CLEAR THAT THEY HAD 2386 01:20:40,040 --> 01:20:40,960 ALREADY BEEN THINKING ABOUT THIS 2387 01:20:40,960 --> 01:20:43,480 IN TERMS OF WHAT DOES THIS 2388 01:20:43,480 --> 01:20:44,120 REALLY MEAN. 2389 01:20:44,120 --> 01:20:47,880 IT WASN'T LIKE CONVINCE US, I 2390 01:20:47,880 --> 01:20:49,040 THINK THEY HAD ALREADY BEEN 2391 01:20:49,040 --> 01:20:50,120 DOING INTERNALLY THINKING ABOUT 2392 01:20:50,120 --> 01:20:51,920 HOW ARE WE GOING TO MAKE THIS 2393 01:20:51,920 --> 01:20:53,760 WORK, WHAT WOULD BE THE BEST WAY 2394 01:20:53,760 --> 01:20:56,960 TO APPROACH IT, THINGS LIKE 2395 01:20:56,960 --> 01:20:57,320 THAT. 2396 01:20:57,320 --> 01:20:58,320 SO -- BECAUSE GOING BACK TO THE 2397 01:20:58,320 --> 01:21:01,720 QUESTION ABOUT THE DATA, WE HAD 2398 01:21:01,720 --> 01:21:05,440 NOT A BIG -- WE DIDN'T HAVE A 2399 01:21:05,440 --> 01:21:08,480 BIG SAMPLE, BUT THE SAMPLE WAS 2400 01:21:08,480 --> 01:21:10,040 VERY SIMILAR TO WHAT EVERYBODY 2401 01:21:10,040 --> 01:21:11,320 ELSE HAS TALKED ABOUT HERE 2402 01:21:11,320 --> 01:21:11,800 TODAY. 2403 01:21:11,800 --> 01:21:13,520 YOU DO HAVE SOME CHANGE IN 2404 01:21:13,520 --> 01:21:14,720 MEDICAL MANAGEMENT. 2405 01:21:14,720 --> 01:21:16,440 ONE THING I WOULD SAY THAT 2406 01:21:16,440 --> 01:21:19,120 SURPRISED ME BL OUR INITIAL 2407 01:21:19,120 --> 01:21:20,600 SAMPLING STILL KIND OF 2408 01:21:20,600 --> 01:21:21,560 SURPRISING ME IS THAT A LOT OF 2409 01:21:21,560 --> 01:21:22,440 ANSWERS ARE NOT GREAT. 2410 01:21:22,440 --> 01:21:23,960 WE END UP GETTING A LOT OF 2411 01:21:23,960 --> 01:21:25,640 BABIES WHO NEED COMFORT CARE. 2412 01:21:25,640 --> 01:21:30,640 BUT EVEN, I THINK AS HUDSON'S 2413 01:21:30,640 --> 01:21:31,840 FAMILY SAID, JUST KNOWING, YOU 2414 01:21:31,840 --> 01:21:33,440 JUST WANT TO KNOW, PLEASE LET US 2415 01:21:33,440 --> 01:21:34,640 KNOW WHAT'S GOING ON HERE. 2416 01:21:34,640 --> 01:21:36,000 AND THAT'S BEEN ONE OF THE MOST 2417 01:21:36,000 --> 01:21:36,760 REWARDING THINGS ABOUT WORKING 2418 01:21:36,760 --> 01:21:38,080 ON THIS, IS HELPING FAMILIES 2419 01:21:38,080 --> 01:21:38,920 KNOW. 2420 01:21:38,920 --> 01:21:43,160 BUT I GUESS MY CONCLUSION IS, IN 2421 01:21:43,160 --> 01:21:45,360 TERMS OF PARTNERING, THIS WAS 2422 01:21:45,360 --> 01:21:46,360 ANOTHER OPPORTUNITY WITH OUR 2423 01:21:46,360 --> 01:21:49,720 PARTNERS AT OUR DEPARTMENT OF 2424 01:21:49,720 --> 01:21:51,400 PUBLIC HEALTH, WHICH IN MICHIGAN 2425 01:21:51,400 --> 01:21:53,280 IS MDHHS. 2426 01:21:53,280 --> 01:21:56,720 IT WASN'T OUR FIRST, IT WAS 2427 01:21:56,720 --> 01:21:57,960 REALLY OUR CONTINUATION. 2428 01:21:57,960 --> 01:21:59,840 >> I'M CERTAINLY GETTING THE 2429 01:21:59,840 --> 01:22:01,440 FEELING ABOUT CONNECTIONS AND 2430 01:22:01,440 --> 01:22:02,240 RELATIONSHIPS AND HOW THAT PLAYS 2431 01:22:02,240 --> 01:22:02,560 A ROLE. 2432 01:22:02,560 --> 01:22:03,960 SO WITH THAT ACTUALLY, BRIEP, 2433 01:22:03,960 --> 01:22:05,360 CAN YOU SHARE A LITTLE BIT HOW 2434 01:22:05,360 --> 01:22:07,080 WAS THE DATA LEVERAGED BY 2435 01:22:07,080 --> 01:22:10,040 MEDICATE AND WHAT WAS THE MOST 2436 01:22:10,040 --> 01:22:11,520 HELPFUL IN DESIGNING A COVERAGE 2437 01:22:11,520 --> 01:22:13,960 POLICY IN THIS SPACE? 2438 01:22:13,960 --> 01:22:15,520 >> SURE, HAPPY TO DO THAT. 2439 01:22:15,520 --> 01:22:18,080 THANKS FOR YOUR KIND WORDS, 2440 01:22:18,080 --> 01:22:19,720 LAURA. 2441 01:22:19,720 --> 01:22:21,240 WHICH I WOULD ECHO. 2442 01:22:21,240 --> 01:22:25,160 YOU KNOW, I WOULD SAY THAT THE 2443 01:22:25,160 --> 01:22:27,120 DATA WAS -- IT WAS CENTRAL AND 2444 01:22:27,120 --> 01:22:31,320 JUST AS WE STARTED TO LOOK AT 2445 01:22:31,320 --> 01:22:32,840 THIS, WHEN WE STARTED 2446 01:22:32,840 --> 01:22:34,040 IMPLEMENTATION STEPS JUST 2447 01:22:34,040 --> 01:22:34,920 KNOWING ABOUT PREVALENCE, 2448 01:22:34,920 --> 01:22:36,160 KNOWING ABOUT RARENESS, KNOWING 2449 01:22:36,160 --> 01:22:37,400 THAT WE WEREN'T TALKING, YOU 2450 01:22:37,400 --> 01:22:39,360 KNOW, THOUSANDS, TENS OF 2451 01:22:39,360 --> 01:22:40,480 THOUSANDS OF KIDS, WE'RE TALKING 2452 01:22:40,480 --> 01:22:42,640 HUNDREDS OF KIDS AND POTENTIALLY 2453 01:22:42,640 --> 01:22:45,720 HAVING THE ABILITY TO INFLUENCE 2454 01:22:45,720 --> 01:22:47,120 IN A POSITIVE WAY WHAT HAPPENED 2455 01:22:47,120 --> 01:22:49,080 WITH A REALLY SMALL SUBSET BUT A 2456 01:22:49,080 --> 01:22:51,000 REALLY IMPORTANT SUBSET OF OUR 2457 01:22:51,000 --> 01:22:54,480 POPULATION. 2458 01:22:54,480 --> 01:23:01,760 THAT WAS CRUCIAL, HAVING THE 2459 01:23:01,760 --> 01:23:03,360 BABY DEAR PILOT UP AND RUNNING, 2460 01:23:03,360 --> 01:23:07,160 SO WE HAD A LITTLE BIT OF 2461 01:23:07,160 --> 01:23:08,080 INFORMATION BUT KNOWING THAT AT 2462 01:23:08,080 --> 01:23:10,040 THE MOST, WE WERE TALKING IN THE 2463 01:23:10,040 --> 01:23:13,960 LOW HUNDREDS, AS A STATEWIDE 2464 01:23:13,960 --> 01:23:17,040 NUMBER, AND MEDICAID IN MICHIGAN 2465 01:23:17,040 --> 01:23:20,160 IS PROBABLY NOT AN OUTLIAR IN 2466 01:23:20,160 --> 01:23:22,040 THAT WE PAY FOR ROUGHLY HALF THE 2467 01:23:22,040 --> 01:23:24,000 BIRTHS IN THE STATE, SO SIMPLE 2468 01:23:24,000 --> 01:23:26,720 MATH, ROUGHLY HALF OF THE 2469 01:23:26,720 --> 01:23:28,560 SICKEST KIDS AT LEAST WOULD 2470 01:23:28,560 --> 01:23:29,920 PROBABLY FALL TO US AT SOME 2471 01:23:29,920 --> 01:23:33,080 POINT IN TIME. 2472 01:23:33,080 --> 01:23:36,520 SO HAVING THAT DATA WAS CRUCIAL, 2473 01:23:36,520 --> 01:23:39,960 AND THEN ESPECIALLY HAVING 2474 01:23:39,960 --> 01:23:43,600 INFORMATION ABOUT TSH -- HONESTLY -- 2475 01:23:43,600 --> 01:23:44,920 I WORK ON A LOT OF FINANCIAL 2476 01:23:44,920 --> 01:23:45,240 THINGS. 2477 01:23:45,240 --> 01:23:47,520 THIS WASN'T PURELY A FINANCIAL 2478 01:23:47,520 --> 01:23:48,760 DECISION. 2479 01:23:48,760 --> 01:23:49,960 BUT KNOWING THE HOSPITAL DAYS 2480 01:23:49,960 --> 01:23:52,920 COULD BE AVOIDED, PROCEDURES 2481 01:23:52,920 --> 01:23:54,240 COULD BE CANCELED, CORRECT 2482 01:23:54,240 --> 01:23:59,160 PROCEDURES COULD BE SCHEDULED. 2483 01:23:59,160 --> 01:24:00,920 THAT WAS A VERY COMPELLING 2484 01:24:00,920 --> 01:24:03,000 ARGUMENT, BUT I THINK THE MOST 2485 01:24:03,000 --> 01:24:03,880 COMPELLING ARGUMENT WAS REALLY 2486 01:24:03,880 --> 01:24:06,320 JUST THE FACT THAT AS A PARENT 2487 01:24:06,320 --> 01:24:08,160 OF THREE, KNOWING IF I HAD A KID 2488 01:24:08,160 --> 01:24:11,680 IN ONE OF THOSE SITUATIONS, JUST 2489 01:24:11,680 --> 01:24:13,080 KNOWING, GETTING A DIAGNOSIS 2490 01:24:13,080 --> 01:24:13,720 EXPEDITED WOULD BE VERY 2491 01:24:13,720 --> 01:24:14,520 IMPORTANT TO ME. 2492 01:24:14,520 --> 01:24:17,480 SO IT WAS VERY RELATABLE FROM 2493 01:24:17,480 --> 01:24:19,480 THAT PERSPECTIVE. 2494 01:24:19,480 --> 01:24:21,280 AND FROM -- YOU KNOW, FROM A 2495 01:24:21,280 --> 01:24:26,480 MEDICAID PERSPECTIVE, THESE 2496 01:24:26,480 --> 01:24:28,360 TESTS ARE NOT INEXPENSIVE STILL, 2497 01:24:28,360 --> 01:24:30,880 YOU KNOW, FROM THE WAY WE HAVE 2498 01:24:30,880 --> 01:24:32,720 TO BE CAREFUL -- GOOD STEURTS OF 2499 01:24:32,720 --> 01:24:36,120 THE RESOURCES WE HAVE AS A 2500 01:24:36,120 --> 01:24:39,520 PUBLIC PROGRAM, BUT HAVING A 2501 01:24:39,520 --> 01:24:41,280 BABY LANGUISH IN THE NICU IS 2502 01:24:41,280 --> 01:24:43,240 ALSO VERY EXPENSIVE, AND TO THE 2503 01:24:43,240 --> 01:24:44,280 EXTENT THAT WE COULD GET THEM 2504 01:24:44,280 --> 01:24:45,920 OUT OF THERE AND GET THEM BACK 2505 01:24:45,920 --> 01:24:47,720 HOME BECAUSE WE EITHER HAD A 2506 01:24:47,720 --> 01:24:49,760 DISEASE THAT COULD BE DIAGNOSED 2507 01:24:49,760 --> 01:24:52,000 AND TREATED OR AT LEAST GIVE 2508 01:24:52,000 --> 01:24:54,080 THEM COMFORT CARE THAT THEY 2509 01:24:54,080 --> 01:24:54,960 NEEDED, THAT WAS COMPELLING FOR 2510 01:24:54,960 --> 01:24:57,840 US. 2511 01:24:57,840 --> 01:24:59,720 >> AND ACTUALLY, BRIAN, I 2512 01:24:59,720 --> 01:25:00,360 ACTUALLY APPRECIATE WHAT YOU 2513 01:25:00,360 --> 01:25:02,480 JUST SAID ABOUT THE COST -- 2514 01:25:02,480 --> 01:25:05,000 WHILE COSTS OF GENOMIC 2515 01:25:05,000 --> 01:25:06,080 SEQUENCING IS THERE, SO IS THE 2516 01:25:06,080 --> 01:25:08,040 COST OF HAVING A CHILD IN THE 2517 01:25:08,040 --> 01:25:10,920 NICU AS WELL. 2518 01:25:10,920 --> 01:25:12,320 SO LYNNE ACTUALLY, IT TURNS OUT 2519 01:25:12,320 --> 01:25:15,120 AS MEDICAID WAS DOING THIS 2520 01:25:15,120 --> 01:25:15,720 SIMULTANEOUSLY BLUE CROSS/BLUE 2521 01:25:15,720 --> 01:25:18,520 SHIELD OF MICHIGAN WAS 2522 01:25:18,520 --> 01:25:20,200 CONSIDERING A COVERAGE POLICY IN 2523 01:25:20,200 --> 01:25:20,960 THIS SPACE AS WELL. 2524 01:25:20,960 --> 01:25:22,160 SO CAN YOU SHARE KIND OF WHAT 2525 01:25:22,160 --> 01:25:25,240 WERE THE KEY TOOLS IN GUIDING 2526 01:25:25,240 --> 01:25:26,040 THE DECISION-MAKING, AND WHAT 2527 01:25:26,040 --> 01:25:28,960 ROLE DO YOU SEE IN PRIVATE 2528 01:25:28,960 --> 01:25:30,920 PAYORS ADDRESSING HEALTH 2529 01:25:30,920 --> 01:25:32,600 DISPARITIES AND ADVANCING EQUITY 2530 01:25:32,600 --> 01:25:34,920 THROUGH BROADENED ACCESS? 2531 01:25:34,920 --> 01:25:36,520 >> WELL, THANK YOU, WENDY, FOR 2532 01:25:36,520 --> 01:25:39,720 THE QUESTION AND I'M HAPPY TO 2533 01:25:39,720 --> 01:25:41,680 PARTICIPATE IN THIS DISCUSSION. 2534 01:25:41,680 --> 01:25:43,520 AND I SEE I HAVE A TWO-PART 2535 01:25:43,520 --> 01:25:48,960 QUESTION ALSO, SO I WILL DO MY 2536 01:25:48,960 --> 01:25:50,200 BEST TO RESPOND TO BOTH PARTS. 2537 01:25:50,200 --> 01:25:53,480 I WOULD SAY UPON REFLECTION, 2538 01:25:53,480 --> 01:25:55,520 THERE REALLY WERE NO TOOLS PER 2539 01:25:55,520 --> 01:25:58,640 SE THAT WE USE TO MAKE THE 2540 01:25:58,640 --> 01:25:59,040 DECISION. 2541 01:25:59,040 --> 01:26:03,120 IT WAS REALLY THE CONTINUED 2542 01:26:03,120 --> 01:26:04,760 EVOLUTION OF OUR THINKING. 2543 01:26:04,760 --> 01:26:08,520 GENETIC TESTING AS WE ALL KNOW, 2544 01:26:08,520 --> 01:26:12,720 AND REALLY APPRECIATE, HAS 2545 01:26:12,720 --> 01:26:14,080 CHANGED THE LANDSCAPE OF 2546 01:26:14,080 --> 01:26:14,720 HEALTHCARE. 2547 01:26:14,720 --> 01:26:16,880 IT HAS CHANGED THE PRACTICE OF 2548 01:26:16,880 --> 01:26:17,200 MEDICINE. 2549 01:26:17,200 --> 01:26:19,080 IT TOUCHES SO MANY PARTS, 2550 01:26:19,080 --> 01:26:22,040 WHETHER IT'S THE DIAGNOSIS, 2551 01:26:22,040 --> 01:26:23,720 WHETHER IT'S THE 2552 01:26:23,720 --> 01:26:24,520 PROGNOSTICATION, WHETHER IT'S 2553 01:26:24,520 --> 01:26:26,000 TREATMENT STRATEGIES. 2554 01:26:26,000 --> 01:26:27,440 GENETIC TESTING AND THE RESULTS 2555 01:26:27,440 --> 01:26:31,160 OF THAT ARE PART OF IT, AND WITH 2556 01:26:31,160 --> 01:26:32,440 THAT CHANGE TO HEALTHCARE 2557 01:26:32,440 --> 01:26:33,320 DELIVER REAL THERE'S BEEN CHANGE 2558 01:26:33,320 --> 01:26:34,840 TO THE PAYOR. 2559 01:26:34,840 --> 01:26:36,240 WHEN WE LOOK AT WHAT WE DECIDE 2560 01:26:36,240 --> 01:26:41,080 TO COVER, IT OFTEN -- I GUESS 2561 01:26:41,080 --> 01:26:42,480 FOUNDATIONALLY, IT REALLY 2562 01:26:42,480 --> 01:26:43,720 REVOLVES AROUND UTILITY AND 2563 01:26:43,720 --> 01:26:45,480 WE'VE HEARD REFERENCE TO THAT IN 2564 01:26:45,480 --> 01:26:46,480 THE FIRST SECTION, BUT WHEN WE 2565 01:26:46,480 --> 01:26:47,800 LOOK AT UTILITY, WE REALLY WANT 2566 01:26:47,800 --> 01:26:49,640 TO KNOW, WILL THIS INTERVENTION, 2567 01:26:49,640 --> 01:26:53,120 WILL THESE RESULTS LEAD TO A 2568 01:26:53,120 --> 01:26:56,520 CHANGE IN MANAGEMENT THAT THEN 2569 01:26:56,520 --> 01:26:57,880 CREATES IMPROVED HEALTH OUTCOMES 2570 01:26:57,880 --> 01:27:00,000 FOR OUR MEMBERS, AND THAT WE 2571 01:27:00,000 --> 01:27:01,320 STICK WITH. 2572 01:27:01,320 --> 01:27:04,200 HOWEVER, WITH GENETIC TESTING, 2573 01:27:04,200 --> 01:27:06,600 AND THE GROWTH AND THE 2574 01:27:06,600 --> 01:27:11,840 TECHNOLOGY AND THE KIND OF -- 2575 01:27:11,840 --> 01:27:14,520 THE EMERGENCE OF SO MUCH 2576 01:27:14,520 --> 01:27:20,400 INFORMATION SO COMPLETELY, IT'S 2577 01:27:20,400 --> 01:27:21,240 BEEN CHALLENGING TO DISTINGUISH 2578 01:27:21,240 --> 01:27:23,520 BETWEEN WHAT IS USEFUL AND WHAT 2579 01:27:23,520 --> 01:27:26,040 IS PRESENT BUT MAYBE NOT 2580 01:27:26,040 --> 01:27:31,280 CLINICALLY MEANINGFULMENT SO WE 2581 01:27:31,280 --> 01:27:35,240 HAVE EMBRACED INGFUL. 2582 01:27:35,240 --> 01:27:40,360 SO WE HAVE EMBRACED GENETIC 2583 01:27:40,360 --> 01:27:41,080 TESTING -- WHOLE GENOME 2584 01:27:41,080 --> 01:27:41,800 SEQUENCING IN SOME SITUATIONS 2585 01:27:41,800 --> 01:27:44,080 AND WE REALIZE WITH MULTIPLE 2586 01:27:44,080 --> 01:27:45,840 CONGENITAL ANOMALIES OR KNOWN 2587 01:27:45,840 --> 01:27:48,280 DEVELOPMENTAL CONDITIONS, AND 2588 01:27:48,280 --> 01:27:53,080 ROUTINE TESTING AS THAT FOUND AN 2589 01:27:53,080 --> 01:27:54,680 ANSWER OR THE ANSWER IS 2590 01:27:54,680 --> 01:27:58,240 NECESSARY TO REALLY PROVIDE AN 2591 01:27:58,240 --> 01:28:01,520 OUTCOME THAT WE ARE -- THAT WE 2592 01:28:01,520 --> 01:28:05,080 WANT FOR ALL OF OUR MEMBERS, THE 2593 01:28:05,080 --> 01:28:06,000 SEQUENCING TESTING WAS 2594 01:28:06,000 --> 01:28:06,280 NECESSARY. 2595 01:28:06,280 --> 01:28:13,720 SO WE WERE THERE, BUT INVOLVING 2596 01:28:13,720 --> 01:28:14,960 THIS SITUATION, WE WERE REALLY 2597 01:28:14,960 --> 01:28:18,840 BEING APPROACHED BY SPECIALISTS 2598 01:28:18,840 --> 01:28:21,200 AND PROVIDERS WHO WE RESPECT WHO 2599 01:28:21,200 --> 01:28:25,520 WERE SAYING THERE'S A REAL 2600 01:28:25,520 --> 01:28:30,760 BENEFIT TO THIS TESTING, AND WE 2601 01:28:30,760 --> 01:28:31,880 WITHIN QUESTION -- CAN YOU 2602 01:28:31,880 --> 01:28:34,720 DISTINGUISH BETWEEN WHAT IS 2603 01:28:34,720 --> 01:28:35,840 IMPORTANT TO KNOW OR THAT YOU 2604 01:28:35,840 --> 01:28:37,320 NEED TO KNOW VERSUS WHAT IS NICE 2605 01:28:37,320 --> 01:28:38,000 TO KNOW. 2606 01:28:38,000 --> 01:28:39,320 BECAUSE WE WANT TO COVER WHAT 2607 01:28:39,320 --> 01:28:44,760 YOU NEED TO KNOW TO MAKE A 2608 01:28:44,760 --> 01:28:45,320 DIFFERENCE. 2609 01:28:45,320 --> 01:28:48,720 AND THEY SAID YES, WE HAD THE 2610 01:28:48,720 --> 01:28:50,000 OPPORTUNITY TO TALK WITH A 2611 01:28:50,000 --> 01:28:53,000 MEDICAL DIRECTOR WHO WAS WITH 2612 01:28:53,000 --> 01:28:53,960 THE PROGRAM IN CALIFORNIA AND WE 2613 01:28:53,960 --> 01:28:55,400 WERE ABLE TO REVIEW THAT DATA, 2614 01:28:55,400 --> 01:28:59,360 AND THAT, TOO, WAS NOT JUST 2615 01:28:59,360 --> 01:29:01,520 POLICY 2616 01:29:01,520 --> 01:29:02,560 PROMISING BUT WAS SHOWING 2617 01:29:02,560 --> 01:29:02,920 EFFECTIVENESS. 2618 01:29:02,920 --> 01:29:08,440 WE DID REVIEW THE PROJECT BABY 2619 01:29:08,440 --> 01:29:10,040 DEER AND WHAT THEY WERE 2620 01:29:10,040 --> 01:29:10,320 PROPOSING. 2621 01:29:10,320 --> 01:29:15,240 ALL OF THIS WORKED TOGETHER TO 2622 01:29:15,240 --> 01:29:16,320 CHALLENGE OUR DECISION ABOUT 2623 01:29:16,320 --> 01:29:17,320 WHAT SHOULD BE COVERED. 2624 01:29:17,320 --> 01:29:23,240 BECAUSE IT SEEMED TO BE THAT A 2625 01:29:23,240 --> 01:29:24,000 SPECIFIC CLINICAL SITUATION SUCH 2626 01:29:24,000 --> 01:29:28,520 AS A CRITICALLY ILL BABY WHERE A 2627 01:29:28,520 --> 01:29:31,400 GENETIC BASIS IS PROBABLY THE 2628 01:29:31,400 --> 01:29:42,920 CAUSE THAT THE BABY IS LANGE LAN 2629 01:29:42,920 --> 01:29:45,240 LANGUISHING IN THE INTENSIVE 2630 01:29:45,240 --> 01:29:47,400 CARE, HAVING AN EFFECT ON 2631 01:29:47,400 --> 01:29:48,040 DECISION-MAKING. 2632 01:29:48,040 --> 01:29:51,600 SO WITH ALL THAT IN MIND, WE 2633 01:29:51,600 --> 01:29:54,440 CAUTIOUSLY STEPPED FORWARD AND 2634 01:29:54,440 --> 01:29:57,800 DECIDED THIS WAS AN AREA THAT WE 2635 01:29:57,800 --> 01:30:02,280 THOUGHT WAS NECESSARY AND WE 2636 01:30:02,280 --> 01:30:07,720 DECIDED TO COVER. 2637 01:30:07,720 --> 01:30:08,760 >> THAT'S FANTASTIC. 2638 01:30:08,760 --> 01:30:13,200 IN TERMS OF REALLY HOW DOES THIS 2639 01:30:13,200 --> 01:30:16,520 IMPACT HEALTH DISPARITIES AND 2640 01:30:16,520 --> 01:30:17,040 EQUITY? 2641 01:30:17,040 --> 01:30:21,160 I THINK THAT WAS PART 2 OF MY 2642 01:30:21,160 --> 01:30:24,720 QUESTION. 2643 01:30:24,720 --> 01:30:26,120 IN GENERAL I DON'T SEE A 2644 01:30:26,120 --> 01:30:35,720 PREDETERMINED ROLE FOR A PAYOR 2645 01:30:35,720 --> 01:30:36,560 IN THIS AREA. 2646 01:30:36,560 --> 01:30:37,960 THE HEALTH DISPARITIES AND 2647 01:30:37,960 --> 01:30:42,520 TRYING TO ACHIEVE EQUITY IS A 2648 01:30:42,520 --> 01:30:44,560 COMPLICATED MULTIFACETED AREA 2649 01:30:44,560 --> 01:30:49,040 THAT REALLY NEEDS THE -- MANY 2650 01:30:49,040 --> 01:30:51,200 PEOPLE NEED TO BE AT THE TABLE. 2651 01:30:51,200 --> 01:30:55,640 ESSENTIALLY IT LIKE A PUBLIC 2652 01:30:55,640 --> 01:31:01,600 HEALTH NEED. 2653 01:31:01,600 --> 01:31:02,920 AND SO KEEP THAT IN MIND. 2654 01:31:02,920 --> 01:31:04,240 BUT MORE SPECIFICALLY AS BEING A 2655 01:31:04,240 --> 01:31:05,880 PAYOR, THE POINT WAS MADE THAT 2656 01:31:05,880 --> 01:31:08,040 GENETIC TESTING IS EXPENSIVE. 2657 01:31:08,040 --> 01:31:09,280 IT IS COSTLY. 2658 01:31:09,280 --> 01:31:11,880 SOME OF THAT COST HAS GONE DOWN 2659 01:31:11,880 --> 01:31:13,920 BUT IT STILL REMAINS A 2660 01:31:13,920 --> 01:31:18,240 SIGNIFICANT INVESTMENT. 2661 01:31:18,240 --> 01:31:21,960 AND SO AS A PAYOR, WHAT WE 2662 01:31:21,960 --> 01:31:24,240 PROVIDE IS EXCESS. 2663 01:31:24,240 --> 01:31:28,280 I THINK COSTS CAN DIRECTLY BE 2664 01:31:28,280 --> 01:31:35,320 RELATED TO AXE SES ACCESS, DIRECTLY 2665 01:31:35,320 --> 01:31:39,920 RELATED TO HET HEALTH DISPARITIES 2666 01:31:39,920 --> 01:31:41,320 AND INTERFERENCE WITH ACHIEVING 2667 01:31:41,320 --> 01:31:45,960 EQUITY. 2668 01:31:45,960 --> 01:31:47,840 >> MY APOLOGIES FOR CUTTING OFF, 2669 01:31:47,840 --> 01:31:49,640 I WANT TO MAKE SURE WE GET TO 2670 01:31:49,640 --> 01:31:50,720 ALL OF THESE QUESTIONS. 2671 01:31:50,720 --> 01:31:52,320 ACTUALLY I'M GOING TO WANT THE 2672 01:31:52,320 --> 01:31:54,200 PANEL TO BE INVOLVED WITH THIS 2673 01:31:54,200 --> 01:31:55,080 NEXT QUESTION BECAUSE IT 2674 01:31:55,080 --> 01:31:57,840 ACTUALLY TOUCHES ON THE WHOLE 2675 01:31:57,840 --> 01:31:59,040 DISPARITIES ISSUE SOME MORE. 2676 01:31:59,040 --> 01:32:00,120 WHICH IS THAT OBVIOUSLY MANY 2677 01:32:00,120 --> 01:32:01,320 PATIENTS IN MICHIGAN, AND THIS 2678 01:32:01,320 --> 01:32:03,080 IS TRUE FOR OTHER STATES AS 2679 01:32:03,080 --> 01:32:05,440 WELL, THAT THEY MAY NOT LIVE 2680 01:32:05,440 --> 01:32:06,840 ANYWHERE NEAR AN ACADEMIC 2681 01:32:06,840 --> 01:32:08,040 MEDICAL CENTER OR OTHER 2682 01:32:08,040 --> 01:32:09,280 FACILITIES THAT MAY PROVIDE 2683 01:32:09,280 --> 01:32:14,080 ACCESS TO GEE NE TICK GENETIC SEQUENCING. 2684 01:32:14,080 --> 01:32:15,920 MICHIGAN HAS A LOWER AND AN 2685 01:32:15,920 --> 01:32:16,360 UPPER PENINSULA. 2686 01:32:16,360 --> 01:32:18,960 SO WHAT ROLES HAVE PAYORS AND/OR 2687 01:32:18,960 --> 01:32:20,960 PROVIDERS PLAYED IN HELPING TO 2688 01:32:20,960 --> 01:32:23,120 ENSURE THAT PATIENTS IN 2689 01:32:23,120 --> 01:32:24,720 UNDERSERVED SETTINGS STILL HAVE 2690 01:32:24,720 --> 01:32:34,880 ACCESS TO WORLD CLASS CARE? 2691 01:32:34,880 --> 01:32:37,200 >> WELL, I THINK I CAN GIVE A 2692 01:32:37,200 --> 01:32:38,600 BRIEF ANSWER TO THAT THAT PLAYS 2693 01:32:38,600 --> 01:32:40,680 A PART IN THIS. 2694 01:32:40,680 --> 01:32:46,000 I THINK THE ADVENT OF TELEHEALTH 2695 01:32:46,000 --> 01:32:48,640 AND TELEHEALTH 2696 01:32:48,640 --> 01:32:50,280 AND TECHNOLOGY IN THAT REALM HAS 2697 01:32:50,280 --> 01:32:51,480 HAD BENEFIT HERE, AND HAS WHAT I 2698 01:32:51,480 --> 01:32:52,760 WOULD SAY LEVELED THE PLAYING 2699 01:32:52,760 --> 01:32:59,320 FIELD SO THERE IS UNIVERSAL 2700 01:32:59,320 --> 01:33:00,960 ACCESS. 2701 01:33:00,960 --> 01:33:01,960 BLUE CROSS/BLUE SHIELD MICHIGAN 2702 01:33:01,960 --> 01:33:03,640 HAS LONG BEEN A SUPPORTER OF 2703 01:33:03,640 --> 01:33:05,560 TELEMEDICINE EVEN PRIOR TO THE 2704 01:33:05,560 --> 01:33:07,040 PANDEMIC, AND THEN THE PANDEMIC 2705 01:33:07,040 --> 01:33:11,840 REALLY EXPOSED THE NEED FOR A 2706 01:33:11,840 --> 01:33:13,480 DIFFERENT DELIVERY OF CARE THAT 2707 01:33:13,480 --> 01:33:15,520 COULD OVERRIDE THESE ISSUES THAT 2708 01:33:15,520 --> 01:33:21,000 THE PANDEMIC BROUGHT OUT AND SO 2709 01:33:21,000 --> 01:33:22,440 WHEN WE HAVE SOMEONE WHO LIVES 2710 01:33:22,440 --> 01:33:25,560 IN THE UP AND WE MAY NOT HAVE 2711 01:33:25,560 --> 01:33:28,840 ACCESS OR THE 2712 01:33:28,840 --> 01:33:29,920 ACCESS OR THE HOSPITAL THE CHILD 2713 01:33:29,920 --> 01:33:32,360 IS ADMITTED TO, MAY NOT HAVE 2714 01:33:32,360 --> 01:33:33,640 ACCESS TO GENETICIST OR 2715 01:33:33,640 --> 01:33:35,280 ESSENTIALLY HAVE ACCESS TO 2716 01:33:35,280 --> 01:33:35,920 DR. BUPP. 2717 01:33:35,920 --> 01:33:40,960 WHAT CAN WE DO TO ALLOW THEM 2718 01:33:40,960 --> 01:33:43,600 THAT INPUT THAT WILL POTENTIALLY 2719 01:33:43,600 --> 01:33:47,680 LEAD TO A DIAGNOSIS OR LEAD TO A 2720 01:33:47,680 --> 01:33:50,160 CHANGE IN MANAGEMENT THAT IS SO 2721 01:33:50,160 --> 01:33:55,320 IMPORTANT IN THE CARE OF THAT 2722 01:33:55,320 --> 01:33:55,720 CHILD. 2723 01:33:55,720 --> 01:33:58,080 SO I THINK HAVING A VIRTUAL 2724 01:33:58,080 --> 01:33:59,040 BEDSIDE EVALUATION, WHICH IS 2725 01:33:59,040 --> 01:34:01,040 SOMETHING WE TOTALLY SUPPORT AND 2726 01:34:01,040 --> 01:34:04,160 COVER, IS PART OF WHAT WE CAN DO 2727 01:34:04,160 --> 01:34:07,360 AND ARE DOING TO PROVIDE WORLD 2728 01:34:07,360 --> 01:34:12,080 CLASS CARE THROUGHOUT MICHIGAN 2729 01:34:12,080 --> 01:34:12,320 STATE. 2730 01:34:12,320 --> 01:34:13,720 >> IN THE STATE OF MICHIGAN, THE 2731 01:34:13,720 --> 01:34:16,400 MAJORITY OF CENTERS THAT CARE 2732 01:34:16,400 --> 01:34:18,240 FOR KIDS DON'T HAVE ON-SITE 2733 01:34:18,240 --> 01:34:19,080 GENETIC PROFESSIONALS. 2734 01:34:19,080 --> 01:34:21,120 LIKE LYNNE SAID, TELEMEDICINE IS 2735 01:34:21,120 --> 01:34:23,720 A FANTASTIC SOLUTION THERE BUT 2736 01:34:23,720 --> 01:34:24,400 THE TELEPHONE IS STILL ANOTHER 2737 01:34:24,400 --> 01:34:27,320 WAY TO JUST TALK TO SOMEBODY AND 2738 01:34:27,320 --> 01:34:29,480 PHYSICIAN TO PHYSICIAN TALK 2739 01:34:29,480 --> 01:34:30,880 THROUGH A CASE, THIS IS WHAT I'M 2740 01:34:30,880 --> 01:34:31,720 SEEING, I'M THINKING ABOUT THIS. 2741 01:34:31,720 --> 01:34:33,080 YOU CAN GET A LOT DONE THERE. 2742 01:34:33,080 --> 01:34:35,160 I THINK THE QUESTION OF PAYOR 2743 01:34:35,160 --> 01:34:41,440 COVERAGE, THOUGH, IS KEY FOR 2744 01:34:41,440 --> 01:34:42,480 CENTERS THAT AREN'T AS 2745 01:34:42,480 --> 01:34:44,000 COMFORTABLE WITH USING GENETIC 2746 01:34:44,000 --> 01:34:46,920 TESTING LET ALONE RAPID GENOME 2747 01:34:46,920 --> 01:34:47,720 SEQUENCING FOR THESE KIDS THAT 2748 01:34:47,720 --> 01:34:49,960 IT IS A NO-BRAINER THAT RAPID 2749 01:34:49,960 --> 01:34:50,560 GENOME SEQUENCING IS GOING TO 2750 01:34:50,560 --> 01:34:52,040 MAKE A CLINICAL DIFFERENCE FOR 2751 01:34:52,040 --> 01:34:52,800 THEM. 2752 01:34:52,800 --> 01:34:53,800 BECAUSE AS A CLINICIAN IF YOU 2753 01:34:53,800 --> 01:34:55,120 THINK IT'S THE RIGHT THING TO 2754 01:34:55,120 --> 01:34:56,720 DO, BUT IT'S NOT GOING TO GET 2755 01:34:56,720 --> 01:34:58,080 PAID FOR, YOU'RE GOING TO GET 2756 01:34:58,080 --> 01:34:58,880 PUSHBACK FROM YOUR HOSPITAL OR 2757 01:34:58,880 --> 01:35:01,080 YOUR LAB, THAT KIND OF ENDS THE 2758 01:35:01,080 --> 01:35:02,600 CONVERSATION SO HAVING THE 2759 01:35:02,600 --> 01:35:05,520 COVERAGE POLICY HAS REALLY HOPED 2760 01:35:05,520 --> 01:35:06,080 OPENED THE DOOR. 2761 01:35:06,080 --> 01:35:07,400 WE HAVE A LOT OF STUFF TO FIGURE 2762 01:35:07,400 --> 01:35:08,040 OUT ON THE BACK END. 2763 01:35:08,040 --> 01:35:09,600 WE NEED TO MAKE SURE PROVIDERS 2764 01:35:09,600 --> 01:35:10,640 ARE EDUCATED THAT WE'RE DOING IT 2765 01:35:10,640 --> 01:35:11,760 ON THE RIGHT PATIENTS, THERE'S A 2766 01:35:11,760 --> 01:35:13,400 LONG WAY TO GO, BUT FOR ME ON 2767 01:35:13,400 --> 01:35:19,840 THE CLINICAL SIDE, HAVING THIS 2768 01:35:19,840 --> 01:35:20,800 COVERAGE PIECE START TO GET 2769 01:35:20,800 --> 01:35:22,280 SORTED OUT, IT'S A GAME CHANGER. 2770 01:35:22,280 --> 01:35:23,920 >> I HAVE TO SAY ONE OF THE 2771 01:35:23,920 --> 01:35:24,920 THINGS I'VE BEEN ALWAYS VERY 2772 01:35:24,920 --> 01:35:26,120 PROUD OF THE FIELD OF GENETICS 2773 01:35:26,120 --> 01:35:27,920 IS THAT REALLY FROM THE VERY 2774 01:35:27,920 --> 01:35:29,080 BEGINNING THAT THERE WAS THIS 2775 01:35:29,080 --> 01:35:33,400 COMMITMENT TO OUTREACH CLINICS 2776 01:35:33,400 --> 01:35:35,200 IN DIFFERENT STATES BECAUSE AS 2777 01:35:35,200 --> 01:35:36,720 YOU POINTED OUT, VERY FEW 2778 01:35:36,720 --> 01:35:38,680 GENETIC PROVIDERS ACROSS THE 2779 01:35:38,680 --> 01:35:41,960 COUNTRY, MORE LOCALIZED IN MAJOR 2780 01:35:41,960 --> 01:35:43,400 CITIES, I THINK WHEN I GAVE YOUR 2781 01:35:43,400 --> 01:35:44,720 INTRODUCTION I HAD TO LIST THREE 2782 01:35:44,720 --> 01:35:45,960 DIFFERENT HOSPITALS THAT YOU ARE 2783 01:35:45,960 --> 01:35:47,240 INVOLVED WITH IN GENETICS AND 2784 01:35:47,240 --> 01:35:49,360 LIKE I SAY, I'M VERY PROUD HERE 2785 01:35:49,360 --> 01:35:50,440 IN MICHIGAN THAT WE'VE HAD 2786 01:35:50,440 --> 01:35:56,040 OUTREACH CLINICS FOR OVER 40 2787 01:35:56,040 --> 01:35:57,160 YEARS. 2788 01:35:57,160 --> 01:35:58,520 BUT ANYTHING ELSE ANYONE WANTS 2789 01:35:58,520 --> 01:35:59,560 TO SAY ABOUT KIND OF ADDRESSING 2790 01:35:59,560 --> 01:36:01,480 SOME OF THE EQUITY AND DISPARITY 2791 01:36:01,480 --> 01:36:01,720 ISSUES? 2792 01:36:01,720 --> 01:36:02,880 >> I'LL JUST QUICKLY SAY THAT 2793 01:36:02,880 --> 01:36:07,080 EVEN BEFORE WE HAD THE FUNDING 2794 01:36:07,080 --> 01:36:09,080 SECURED, ALL OF THE HOSPITALS WE 2795 01:36:09,080 --> 01:36:10,600 COULD THINK OF THAT WOULD BE 2796 01:36:10,600 --> 01:36:14,400 POTENTIAL SITES FOR INITIATING 2797 01:36:14,400 --> 01:36:14,760 GENETIC TESTING. 2798 01:36:14,760 --> 01:36:20,440 I THINK WE HAVE 12 OR 14 IN THE 2799 01:36:20,440 --> 01:36:20,640 ROOM. 2800 01:36:20,640 --> 01:36:21,640 SO -- AND THEN I THINK ONE OF 2801 01:36:21,640 --> 01:36:22,760 THE THINGS THAT CAME OUT OF THAT 2802 01:36:22,760 --> 01:36:24,400 CONVERSATION WAS NOT ONLY ARE WE 2803 01:36:24,400 --> 01:36:27,400 INTERESTED IN BEING IN THIS ROOM 2804 01:36:27,400 --> 01:36:28,160 TOGETHER, BUT THAT THERE ARE 2805 01:36:28,160 --> 01:36:29,800 OTHER PLACES THAT NEED, LIKE YOU 2806 01:36:29,800 --> 01:36:31,440 JUST SAID, DR. UHLMANN, THERE 2807 01:36:31,440 --> 01:36:33,480 ARE OTHER PLACES THAT NEED THIS 2808 01:36:33,480 --> 01:36:34,440 EXPERTISE, LET'S FIGURE OUT HOW 2809 01:36:34,440 --> 01:36:37,160 TO SPREAD THAT FURTHER. 2810 01:36:37,160 --> 01:36:38,960 NOT LONG AFTER THAT, WE HAD THE 2811 01:36:38,960 --> 01:36:42,320 WORLD OF THE PANDEMIC EXPLODE, 2812 01:36:42,320 --> 01:36:44,720 SO I THINK SOME OF THAT -- WE 2813 01:36:44,720 --> 01:36:45,520 HAVEN'T FOLLOWED UP ON THAT BUT 2814 01:36:45,520 --> 01:36:52,200 I KNOW THAT THE INTEREST IS OUT 2815 01:36:52,200 --> 01:36:53,760 THERE SHARING HOW TO RESPOND TO 2816 01:36:53,760 --> 01:36:56,320 THIS AND THE PREVIOUS PANEL 2817 01:36:56,320 --> 01:36:58,320 SHARED THERE'S A LOT MORE TO -- 2818 01:36:58,320 --> 01:37:01,200 WHEN WE FIND OUT WHAT'S GOING ON 2819 01:37:01,200 --> 01:37:02,600 WITH THE GENETICS IN YOUR CHILD, 2820 01:37:02,600 --> 01:37:04,080 YOU'RE FINDING OUT A LOT ABOUT 2821 01:37:04,080 --> 01:37:05,960 YOUR ENTIRE FAMILY. 2822 01:37:05,960 --> 01:37:07,840 >> JUST ONE POINT TO ADD JUST 2823 01:37:07,840 --> 01:37:09,160 FROM A MEDICAID PERSPECTIVE, 2824 01:37:09,160 --> 01:37:10,600 WHEN WE FIRST STARTED TALKING 2825 01:37:10,600 --> 01:37:12,040 ABOUT THIS IN THE MEDICAID 2826 01:37:12,040 --> 01:37:13,440 PROGRAM, I DON'T THINK THE BLUE 2827 01:37:13,440 --> 01:37:14,480 CROSS COVERAGE POLICY, I THINK 2828 01:37:14,480 --> 01:37:18,040 IT WAS IN PROCESS AND NOT 2829 01:37:18,040 --> 01:37:25,040 NECESSARILY FULLY RELEASED YET, 2830 01:37:25,040 --> 01:37:31,800 SO QUITE CANNED QUITE CANDIDLY -- THOSE T HAT 2831 01:37:31,800 --> 01:37:33,920 HAVE FINANCIAL ABILITY TO PAY 2832 01:37:33,920 --> 01:37:37,720 FOR THEM SM THEMSELVES AND MORE 2833 01:37:37,720 --> 01:37:38,920 LIKELY FOR THE MEDICAID 2834 01:37:38,920 --> 01:37:40,320 POPULATION, THAT'S NOT GOING TO 2835 01:37:40,320 --> 01:37:41,200 HAPPEN. 2836 01:37:41,200 --> 01:37:43,080 THAT'S FROM THE PERSPECTIVE OF 2837 01:37:43,080 --> 01:37:44,360 WANTING TO PUT THE MEDICAID 2838 01:37:44,360 --> 01:37:46,360 POPULATION IN A LITTLE BIT MORE 2839 01:37:46,360 --> 01:37:50,320 EQUAL FOOTING WITH PRIVATE PAY. 2840 01:37:50,320 --> 01:37:52,840 I THINK IT'S WONDERFUL THAT THE 2841 01:37:52,840 --> 01:37:56,560 BLUES HAVE STEPPED FORWARD, BUT 2842 01:37:56,560 --> 01:37:57,640 THAT DID FACTOR INTO OUR 2843 01:37:57,640 --> 01:37:58,520 THINKING ON THE FRONT END AS 2844 01:37:58,520 --> 01:38:01,280 WELL. 2845 01:38:01,280 --> 01:38:04,080 >> SO WE'VE BEEN FOCUSING KIND 2846 01:38:04,080 --> 01:38:07,920 OF COVERING THE COST OF CLINICAL 2847 01:38:07,920 --> 01:38:09,120 GENOMICS SEQUENCING AND I WANTED 2848 01:38:09,120 --> 01:38:10,200 TO PIVOT A LITTLE BIT TO THE 2849 01:38:10,200 --> 01:38:11,840 FACT THAT WHILE GETTING A 2850 01:38:11,840 --> 01:38:13,240 DIAGNOSIS CAN CERTAINLY BE LIFE 2851 01:38:13,240 --> 01:38:14,920 CHANGING FOR FAMILIES, IT'S 2852 01:38:14,920 --> 01:38:16,960 OFTEN THE FIRST STEP ON ANOTHER 2853 01:38:16,960 --> 01:38:17,920 JOURNEY TOWARDS GETTING 2854 01:38:17,920 --> 01:38:20,080 EFFECTIVE TREATMENT. 2855 01:38:20,080 --> 01:38:22,520 SO HOW CAN PAYORS AND PROVIDERS 2856 01:38:22,520 --> 01:38:25,160 HELP ENABLE COMPREHENSIVE CARE 2857 01:38:25,160 --> 01:38:26,640 FOR PATIENTS, INCLUDING ACCESS 2858 01:38:26,640 --> 01:38:29,320 TO GENETIC COUNSELING, TO 2859 01:38:29,320 --> 01:38:30,320 SPECIALISTS OR TO OTHER 2860 01:38:30,320 --> 01:38:32,160 HEALTHCARE PROVIDERS, TO ENSURE 2861 01:38:32,160 --> 01:38:34,040 THAT PATIENTS ARE REALLY REAPING 2862 01:38:34,040 --> 01:38:36,400 THE FULL BENEFITS OF GETTING A 2863 01:38:36,400 --> 01:38:43,720 GENETIC DIAGNOSIS. 2864 01:38:43,720 --> 01:38:46,440 >> WENDY, YOU TALKED ABOUT 2865 01:38:46,440 --> 01:38:47,080 GETTING TO TREATMENT. 2866 01:38:47,080 --> 01:38:48,480 I WANTED TO EMPHASIZE YOU HAVE 2867 01:38:48,480 --> 01:38:51,400 TO KNOW WHAT YOU'RE TREATING TO 2868 01:38:51,400 --> 01:38:52,360 GET THE RIGHT TREATMENTS. 2869 01:38:52,360 --> 01:38:54,880 I'LL GIVE A SHOUT OUT TO GENETIC 2870 01:38:54,880 --> 01:38:55,160 COUNSELORS. 2871 01:38:55,160 --> 01:38:56,520 THEY, I THINK WERE TALKED ABOUT 2872 01:38:56,520 --> 01:38:57,480 EARLIER, I CAN'T REMEMBER THE 2873 01:38:57,480 --> 01:38:58,880 TERM THAT WE USED, BUT THEY'RE 2874 01:38:58,880 --> 01:39:00,520 THE BEST, AND THEY REALLY KIND 2875 01:39:00,520 --> 01:39:01,680 OF HOLD THINGS TOGETHER. 2876 01:39:01,680 --> 01:39:04,160 MICHIGAN IS IN THE PROCESS OF 2877 01:39:04,160 --> 01:39:06,040 LICENCING GENETIC COUNSELORS. 2878 01:39:06,040 --> 01:39:07,520 A HUGE STEP FORWARD. 2879 01:39:07,520 --> 01:39:10,080 THERE'S SOME NATIONAL WORK ABOUT 2880 01:39:10,080 --> 01:39:11,200 CMS RECOGNIZING GENETIC 2881 01:39:11,200 --> 01:39:12,000 COUNSELORS AS PROVIDERS BECAUSE 2882 01:39:12,000 --> 01:39:13,560 THEY DO HAVE THAT EXPERTISE TO 2883 01:39:13,560 --> 01:39:15,560 EXPLAIN, TO TALK, AND TO REALLY 2884 01:39:15,560 --> 01:39:17,880 HELP FAMILIES UNDERSTAND AND 2885 01:39:17,880 --> 01:39:18,560 PROCESS THE INFORMATION. 2886 01:39:18,560 --> 01:39:20,160 LAURA AND I HAVE TALKED A LOT 2887 01:39:20,160 --> 01:39:21,280 OVER THE YEARS ABOUT THE FAMILY 2888 01:39:21,280 --> 01:39:22,920 ASPECT OF THIS, AND YOU ARE 2889 01:39:22,920 --> 01:39:25,040 GIVING CARE TO A SICK KID, YOU 2890 01:39:25,040 --> 01:39:26,400 ARE GIVING CARE TO THOSE PARENTS 2891 01:39:26,400 --> 01:39:27,640 TOO, BECAUSE THEY WANT TO KNOW 2892 01:39:27,640 --> 01:39:30,280 WHAT'S THE CHANCE THIS HAPPENS 2893 01:39:30,280 --> 01:39:31,560 AGAIN, DID I DO THIS, DID I DO 2894 01:39:31,560 --> 01:39:32,840 SOMETHING WRONG, AND THOSE ARE 2895 01:39:32,840 --> 01:39:36,440 IMPORTANT ASPECTS TO REMEMBER 2896 01:39:36,440 --> 01:39:37,280 ABOUT THE HOLISTIC CARE THAT 2897 01:39:37,280 --> 01:39:39,920 WE'RE ABLE TO GIVE, LET ALONE 2898 01:39:39,920 --> 01:39:41,160 GETTING ACCESS TO TREATMENTS. 2899 01:39:41,160 --> 01:39:42,880 THERE ARE GENE THERAPIES NOW, 2900 01:39:42,880 --> 01:39:44,680 THERE ARE MORE GENE THERAPIES 2901 01:39:44,680 --> 01:39:46,120 COMING, THERE ARE TARGETED 2902 01:39:46,120 --> 01:39:47,160 TREATMENTS, THE ABILITY TO 2903 01:39:47,160 --> 01:39:48,280 REPURPOSE DRUGS, BUT YOU CAN'T 2904 01:39:48,280 --> 01:39:49,360 DO ANY OF THAT UNLESS YOU KNOW 2905 01:39:49,360 --> 01:39:57,560 WHAT YOU'RE ACTUALLY TREATING. 2906 01:39:57,560 --> 01:39:59,520 >> LYNNE AND BRIAN OR LAURA, ANY 2907 01:39:59,520 --> 01:40:00,840 COMMENTS ON THAT QUESTION JUST 2908 01:40:00,840 --> 01:40:02,400 IN TERMS OF BEING ABLE TO COVER 2909 01:40:02,400 --> 01:40:05,080 THE TREATMENT ONCE THE GENETIC 2910 01:40:05,080 --> 01:40:08,600 DIAGNOSIS HAS BEEN MADE? 2911 01:40:08,600 --> 01:40:10,000 >> I'D JUST SAY, AND I THINK 2912 01:40:10,000 --> 01:40:10,880 BRIAN AND I ARE VERY MUCH ON THE 2913 01:40:10,880 --> 01:40:14,000 SAME PAGE HERE AND PROBABLY 2914 01:40:14,000 --> 01:40:17,000 DR. CARTER TOO, THROUGHOUT THIS 2915 01:40:17,000 --> 01:40:19,720 PROCESS, IT HAS BEEN VERY 2916 01:40:19,720 --> 01:40:21,400 IMPORTANT TO MHA REPRESENTING 2917 01:40:21,400 --> 01:40:26,920 THE COVERAGE EXPANSION THAT -- 2918 01:40:26,920 --> 01:40:27,880 COVERAGE FOR SOMETHING THAT'S 2919 01:40:27,880 --> 01:40:30,600 TRULY EFFECTIVE, AND SO IT'S NOT 2920 01:40:30,600 --> 01:40:33,600 NECESSARILY THAT WE'RE SAYING WE 2921 01:40:33,600 --> 01:40:34,680 ONLY THINK THIS IS VALUABLE IF 2922 01:40:34,680 --> 01:40:37,720 IT'S GOING TO SAVE MONEY. 2923 01:40:37,720 --> 01:40:41,080 WE WANTED THERE TO BE -- WANTED 2924 01:40:41,080 --> 01:40:43,800 TO BE CLEAR THAT IT IS 2925 01:40:43,800 --> 01:40:44,080 PRODUCTIVE. 2926 01:40:44,080 --> 01:40:46,320 SO ARE YOU HAVING A CHANGE IN 2927 01:40:46,320 --> 01:40:47,440 MANAGEMENT, ARE YOU EXPLAINING 2928 01:40:47,440 --> 01:40:50,120 TO FAMILIES WHAT'S GOING ON, ALL 2929 01:40:50,120 --> 01:40:52,960 OF THOSE THINGS, AND SO I THINK 2930 01:40:52,960 --> 01:40:57,400 THAT IT'S NOT JUST A MATTER OF 2931 01:40:57,400 --> 01:40:58,600 GETTING PAYMENT, IT'S MAKING 2932 01:40:58,600 --> 01:41:01,880 SURE THAT WE ARE DOING THE RIGHT 2933 01:41:01,880 --> 01:41:03,400 PAYMENT POLICY FOR THE THINGS 2934 01:41:03,400 --> 01:41:05,960 THAT GO ALONG WITH THIS. 2935 01:41:05,960 --> 01:41:07,520 I THINK WE'RE ALL TRYING TO BE 2936 01:41:07,520 --> 01:41:10,440 VERY GOOD STEWARDS OF THIS 2937 01:41:10,440 --> 01:41:11,920 OPPORTUNITY, AND BECAUSE I THINK 2938 01:41:11,920 --> 01:41:16,840 WE ALL FEEL LIKE IF IT JUST 2939 01:41:16,840 --> 01:41:18,720 BECOMES A, WELL, WE JUST START 2940 01:41:18,720 --> 01:41:21,440 TESTING ALL CHILDREN FOR -- TEST 2941 01:41:21,440 --> 01:41:27,240 ALL CHILDREN FOR EVERYTHING, WE 2942 01:41:27,240 --> 01:41:31,960 MIGHT LOSE THE FAITH IN WHAT WE 2943 01:41:31,960 --> 01:41:32,520 WERE PURSUING. 2944 01:41:32,520 --> 01:41:35,120 SO I GUESS IT NOT EXACTLY A 2945 01:41:35,120 --> 01:41:36,160 RIGHT ON TARGET ANSWER TO YOUR 2946 01:41:36,160 --> 01:41:37,800 QUESTION, BUT I JUST WANTED TO 2947 01:41:37,800 --> 01:41:41,880 PUT THAT OUT THERE AS YOU WERE 2948 01:41:41,880 --> 01:41:43,320 SEEING A LOT OF THINGS AT FDA 2949 01:41:43,320 --> 01:41:45,040 RIGHT NOW, AND IS THIS DRUG 2950 01:41:45,040 --> 01:41:50,520 REALLY EFFECTIVE, AND ILT NOT AN 2951 01:41:50,520 --> 01:41:51,560 EASY ANSWER, BUT WE ARE TRYING 2952 01:41:51,560 --> 01:41:53,840 TO STAY ON THE RIGHT SIDE OF 2953 01:41:53,840 --> 01:41:55,080 THAT ANSWER, I GUESS, WITH THIS 2954 01:41:55,080 --> 01:41:59,880 EFFORT. 2955 01:41:59,880 --> 01:42:01,280 >> I AGREE WITH YOU VERY MUCH, 2956 01:42:01,280 --> 01:42:02,840 LAURA, IN YOUR COMMENTS. 2957 01:42:02,840 --> 01:42:04,440 I THINK THERE'S THE ONGOING 2958 01:42:04,440 --> 01:42:07,280 PIVOT FROM KIND OF A FEE-BASED 2959 01:42:07,280 --> 01:42:09,840 HEALTHCARE SYSTEM TO A 2960 01:42:09,840 --> 01:42:11,920 VALUE-BASED HEALTHCARE SYSTEM. 2961 01:42:11,920 --> 01:42:15,280 AND WE'VE DONE MANY THINGS IN 2962 01:42:15,280 --> 01:42:17,480 THAT AREA, NOT SPECIFIC TO WHAT 2963 01:42:17,480 --> 01:42:21,240 WE'RE TALKING ABOUT, CHILDREN 2964 01:42:21,240 --> 01:42:23,040 WITH RARE DISEASES OR INFANTS 2965 01:42:23,040 --> 01:42:25,240 WITH RARE DISEASES THAT ARE 2966 01:42:25,240 --> 01:42:27,040 GENETICALLY BASED, BUT IN OTHER 2967 01:42:27,040 --> 01:42:31,920 WAYS, AND WE'RE RECOGNIZING THE 2968 01:42:31,920 --> 01:42:34,280 IMPORTANCE OF HAVING KIND OF A 2969 01:42:34,280 --> 01:42:40,200 PATIENT-CENTERED, CENTER-BASED 2970 01:42:40,200 --> 01:42:41,080 CARE WHERE THE PROVIDER IS 2971 01:42:41,080 --> 01:42:41,920 LOOKING FORWARD AND THEY'RE 2972 01:42:41,920 --> 01:42:43,320 LOOKING FOR INVOLVING 2973 01:42:43,320 --> 01:42:47,680 DECISION-MAKING THAT LOOKS AT 2974 01:42:47,680 --> 01:42:51,480 QUALITY, AND WE INCENTIVIZE 2975 01:42:51,480 --> 01:42:52,640 MAKING DECISIONS BASED ON 2976 01:42:52,640 --> 01:42:53,880 QUALITY AND EFFICACIOUS 2977 01:42:53,880 --> 01:42:54,840 DECISIONS. 2978 01:42:54,840 --> 01:43:00,080 SO WE ALL WIN WHEN THAT HAPPENS. 2979 01:43:00,080 --> 01:43:01,120 BECAUSE WE ALL KNOW THERE ARE 2980 01:43:01,120 --> 01:43:03,200 LIMITED RESOURCES AND WE WANT TO 2981 01:43:03,200 --> 01:43:04,920 GO WHERE WE GET THE MOST BANG 2982 01:43:04,920 --> 01:43:05,640 FOR OUR BUCK. 2983 01:43:05,640 --> 01:43:07,720 I HATE TO RELY ON CLICHES, BUT 2984 01:43:07,720 --> 01:43:09,880 IN THIS SITUATION, I THINK, YOU 2985 01:43:09,880 --> 01:43:11,720 KNOW, IT SAYS WHAT IT NEEDS TO 2986 01:43:11,720 --> 01:43:15,280 SAY. 2987 01:43:15,280 --> 01:43:16,320 AND THERE MUST BE VALUE, AND WE 2988 01:43:16,320 --> 01:43:18,040 SEE THE VALUE IN THE TESTING, 2989 01:43:18,040 --> 01:43:22,000 AND WE SEE THE VALUE IN THE 2990 01:43:22,000 --> 01:43:27,320 MANAGING THAT DIAGNOSIS TO THE 2991 01:43:27,320 --> 01:43:33,520 BEST END POSSIBLE. 2992 01:43:33,520 --> 01:43:35,200 >> BRIAN, YOUR THOUGHTS IN TERMS 2993 01:43:35,200 --> 01:43:37,280 OF COVERING TREATMENT, WHERE 2994 01:43:37,280 --> 01:43:39,040 SOMETIMES MEDICATIONS CAN BE, 2995 01:43:39,040 --> 01:43:39,760 FOR INSTANCE, IN THE THOUSANDS 2996 01:43:39,760 --> 01:43:43,960 OF DOLLARS WITH PATIENTS THAT 2997 01:43:43,960 --> 01:43:48,760 HAVE MEDICAID COVERAGE? 2998 01:43:48,760 --> 01:43:50,160 >> I DON'T KNOW I HAVE A LOT TO 2999 01:43:50,160 --> 01:43:51,320 ADD BEYOND WHAT THE PANEL HAS 3000 01:43:51,320 --> 01:43:51,760 ALREADY SAID. 3001 01:43:51,760 --> 01:43:53,320 WE DO IT PRETTY EFFECTIVELY IN 3002 01:43:53,320 --> 01:43:55,640 THE MEDICAID PROGRAM. 3003 01:43:55,640 --> 01:43:58,080 ONE OF THE THINGS THAT WE END UP 3004 01:43:58,080 --> 01:44:00,360 DOING IS ACTUALLY NOT TERRIBLY 3005 01:44:00,360 --> 01:44:03,720 DISSIMILAR TO THIS, THAT SOME OF 3006 01:44:03,720 --> 01:44:06,520 THE MORE EXPENSIVE DRUGS, WE 3007 01:44:06,520 --> 01:44:08,840 ACTUALLY CARVE OUT OF THE 3008 01:44:08,840 --> 01:44:10,720 MEDICAID HEALTH PLANS AND PAY 3009 01:44:10,720 --> 01:44:12,920 FOR THOSE ON A FEE FOR SERVICE 3010 01:44:12,920 --> 01:44:15,920 BASES TO MAKE SURE WE HAVE 3011 01:44:15,920 --> 01:44:18,680 ACCESS AND DON'T HAVE ISSUES 3012 01:44:18,680 --> 01:44:23,040 WITH THOSE PROVIDING THOSE 3013 01:44:23,040 --> 01:44:23,520 DRUGS. 3014 01:44:23,520 --> 01:44:24,520 I DON'T HAVE A WHOLE LOT MORE TO 3015 01:44:24,520 --> 01:44:24,840 ADD. 3016 01:44:24,840 --> 01:44:25,280 SO THANK YOU. 3017 01:44:25,280 --> 01:44:28,640 >> AND SO AFTER THIS IS GOING TO 3018 01:44:28,640 --> 01:44:29,640 BE TO BRIAN AND LYNNE. 3019 01:44:29,640 --> 01:44:31,280 IT LOOKS LIKE IT'S A FOUR-PART 3020 01:44:31,280 --> 01:44:32,520 QUESTION. 3021 01:44:32,520 --> 01:44:35,360 SO I WILL LET YOU, AGAIN, DECIDE 3022 01:44:35,360 --> 01:44:36,720 WHAT ORDER TO ANSWER IT IN. 3023 01:44:36,720 --> 01:44:38,600 SO NOW THAT WE HAVE COVERAGE 3024 01:44:38,600 --> 01:44:41,360 POLICIES IN PLACE FOR 3025 01:44:41,360 --> 01:44:42,840 SEQUENCING, HOW IS IT GOING? 3026 01:44:42,840 --> 01:44:44,320 AND I THINK WE'VE HEARD SOME OF 3027 01:44:44,320 --> 01:44:45,720 THIS A LITTLE BIT AS WE'VE BEEN 3028 01:44:45,720 --> 01:44:46,840 GOING ALONG TOO. 3029 01:44:46,840 --> 01:44:48,200 BUT THE KEY ONE HERE IS, ARE 3030 01:44:48,200 --> 01:44:49,640 THERE ANY CHALLENGES THAT YOU 3031 01:44:49,640 --> 01:44:51,520 WANT TO HIGHLIGHT FOR OTHER 3032 01:44:51,520 --> 01:44:54,000 STATES AND/OR PAYORS WHO MAY BE 3033 01:44:54,000 --> 01:44:56,080 CONSIDERING CRAFTING A COVERAGE 3034 01:44:56,080 --> 01:44:59,200 POLICY IN THIS SPACE AND AS WE 3035 01:44:59,200 --> 01:45:00,520 SPEAK HERE ABOUT CHALLENGES, 3036 01:45:00,520 --> 01:45:01,920 WHAT ABOUT SOLUTIONS? 3037 01:45:01,920 --> 01:45:04,720 WERE THERE SOLUTIONS THAT YOU 3038 01:45:04,720 --> 01:45:06,600 DEPLOYED TO MEET THOSE 3039 01:45:06,600 --> 01:45:08,160 CHALLENGES, AND THEN LASTLY IS, 3040 01:45:08,160 --> 01:45:11,960 IS THERE ANY ANALYSIS, POST 3041 01:45:11,960 --> 01:45:12,920 COVERAGE ANALYSIS BEING 3042 01:45:12,920 --> 01:45:14,720 CONDUCTED TO ASSESS THE IMPACT 3043 01:45:14,720 --> 01:45:16,280 OF COVERAGE AND ANY ONGOING 3044 01:45:16,280 --> 01:45:19,040 ISSUES? 3045 01:45:19,040 --> 01:45:21,920 >> DR. CARTER, DO YOU WANT TO GO 3046 01:45:21,920 --> 01:45:23,720 FIRST OR DO YOU WANT ME TO? 3047 01:45:23,720 --> 01:45:25,920 I CAN GO FIRST IF YOU'D LIKE. 3048 01:45:25,920 --> 01:45:27,400 >> GO ON, BRIAN. 3049 01:45:27,400 --> 01:45:31,360 >> OKAY. 3050 01:45:31,360 --> 01:45:33,560 IT'S FINE. 3051 01:45:33,560 --> 01:45:33,760 OKAY. 3052 01:45:33,760 --> 01:45:37,440 SO YOU KNOW, WE'RE ABOUT A YEAR 3053 01:45:37,440 --> 01:45:37,600 IN. 3054 01:45:37,600 --> 01:45:40,920 IT'S RELATIVELY EARLY YET JUST 3055 01:45:40,920 --> 01:45:41,800 FROM TAKING THE LONG VIEW. 3056 01:45:41,800 --> 01:45:43,960 BUT I WOULD SAY THINGS ARE GOING 3057 01:45:43,960 --> 01:45:47,040 RELATIVELY WELL OVERALL IN TERMS 3058 01:45:47,040 --> 01:45:47,440 OF AUTHORIZATION. 3059 01:45:47,440 --> 01:45:50,720 I HAVE A FEW NUMBERS HERE. 3060 01:45:50,720 --> 01:45:55,280 THROUGH LAST MONTH, WE HAVE 35 3061 01:45:55,280 --> 01:45:57,160 APPROVALS FOR THE TESTS, WE HAVE 3062 01:45:57,160 --> 01:45:58,120 FIVE DENIALS AND SEVEN THAT HAVE 3063 01:45:58,120 --> 01:45:59,520 BEEN RETURNED FOR ADDITIONAL 3064 01:45:59,520 --> 01:46:00,520 INFORMATION, SO JUST -- THAT 3065 01:46:00,520 --> 01:46:02,360 GIVES YOU SOME FEEL FOR THE 3066 01:46:02,360 --> 01:46:05,600 VOLUME WE'RE LOOKING AT. 3067 01:46:05,600 --> 01:46:07,080 WHICH IS REALLY KIND OF ON PAR 3068 01:46:07,080 --> 01:46:10,960 WITH WHAT WE THOUGHT. 3069 01:46:10,960 --> 01:46:12,680 THERE IS A LEARNING CURVE ON THE 3070 01:46:12,680 --> 01:46:16,680 PAYMENT SIDE, SO PRACTITIONERS 3071 01:46:16,680 --> 01:46:18,200 HAVE SUBMITTED AUTHORIZATIONS, 3072 01:46:18,200 --> 01:46:21,920 WE'VE WORKED THROUGH THOSE AND 3073 01:46:21,920 --> 01:46:23,880 THEN WE SORT OF STALLED ON 3074 01:46:23,880 --> 01:46:26,640 ACTUALLY MAKING THE PAYMENTS. 3075 01:46:26,640 --> 01:46:29,800 WHAT I WOULD SAY IS WE WILL GET 3076 01:46:29,800 --> 01:46:33,960 THERE, BUT THE LESSON LEARNED IS 3077 01:46:33,960 --> 01:46:35,640 THAT WE STRUCTURED SOMETHING A 3078 01:46:35,640 --> 01:46:37,480 LITTLE DIFFERENT THAN WHAT 3079 01:46:37,480 --> 01:46:40,080 NORMALLY HAPPENS WITH HOSPITAL 3080 01:46:40,080 --> 01:46:43,480 REIMBURSEMENT AND THAT WE WOULD 3081 01:46:43,480 --> 01:46:46,640 PULL THIS OUT OF THE HOSPITAL'S 3082 01:46:46,640 --> 01:46:47,720 NORMAL PAYMENT, HAVE A 3083 01:46:47,720 --> 01:46:49,720 PROFESSIONAL CLAIM SO THEY CAN 3084 01:46:49,720 --> 01:46:51,920 PAY THAT SEPARATELY. 3085 01:46:51,920 --> 01:46:54,040 CMS WAS INCREDIBLY SUPPORTIVE, 3086 01:46:54,040 --> 01:46:56,360 APPROVED OUR PROPOSAL QUICKLY, 3087 01:46:56,360 --> 01:46:59,680 THE POLICY WENT THROUGH, WAS 3088 01:46:59,680 --> 01:47:02,400 SUPPORTED BY PRACTITIONERS AND 3089 01:47:02,400 --> 01:47:05,080 THOSE ON THE GROUND, BUT I THINK 3090 01:47:05,080 --> 01:47:07,120 THE LESSON THERE IS THAT IF 3091 01:47:07,120 --> 01:47:08,120 YOU'RE DOING SOMETHING THAT'S 3092 01:47:08,120 --> 01:47:09,920 DIFFERENT THAN THE NORM FROM A 3093 01:47:09,920 --> 01:47:11,200 PAYMENT PERSPECTIVE AND IT'S 3094 01:47:11,200 --> 01:47:13,400 ALSO FAIRLY RARE, THAT THERE'S A 3095 01:47:13,400 --> 01:47:16,200 LEARNING CURVE REQUIRED AND WE 3096 01:47:16,200 --> 01:47:19,920 HAVE BEEN COORDINATING AND MORE 3097 01:47:19,920 --> 01:47:20,640 COORDINATION -- WE'LL GET 3098 01:47:20,640 --> 01:47:22,040 THROUGH IT AND WE'LL FIGURE THAT 3099 01:47:22,040 --> 01:47:25,520 PART OUT, BUT I DON'T KNOW 3100 01:47:25,520 --> 01:47:27,360 THAT -- I DON'T KNOW THAT I 3101 01:47:27,360 --> 01:47:28,480 ANSWERED ALL FOUR OF YOUR 3102 01:47:28,480 --> 01:47:31,320 QUESTIONS BUT THOSE ARE MY -- 3103 01:47:31,320 --> 01:47:32,960 THOSE ARE MY PRELIMINARY 3104 01:47:32,960 --> 01:47:33,240 THOUGHTS. 3105 01:47:33,240 --> 01:47:35,000 >> ANY ANALYSIS THAT'S BEING 3106 01:47:35,000 --> 01:47:38,320 DONE ON THE BACK END, TO TRY TO 3107 01:47:38,320 --> 01:47:40,280 ASSESS THE IMPACT OF COVERAGE 3108 01:47:40,280 --> 01:47:43,800 AND ONGOING ISSUES, DID YOU SAY? 3109 01:47:43,800 --> 01:47:45,120 >> IT'S A LITTLE BIT EARLY FOR 3110 01:47:45,120 --> 01:47:46,680 THAT SO WE'RE KIND OF 3111 01:47:46,680 --> 01:47:48,920 PRELIMINARY IN THOSE REVIEWS TO 3112 01:47:48,920 --> 01:47:51,520 BE CANDID. 3113 01:47:51,520 --> 01:47:53,720 >> APPRECIATE CANDID. 3114 01:47:53,720 --> 01:47:56,920 WELL, SO LYNNE, YOUR THOUGHTS. 3115 01:47:56,920 --> 01:47:58,680 >> I AGREE WITH YOU, BRIAN, IT'S 3116 01:47:58,680 --> 01:48:02,000 A BIT EARLY TO DIVE INTO ALL OF 3117 01:48:02,000 --> 01:48:05,920 THOSE QUESTIONS. 3118 01:48:05,920 --> 01:48:10,320 ONE ASPECT OF THE BABY DEER 3119 01:48:10,320 --> 01:48:11,680 PROJECT THAT HAS BEEN REALLY 3120 01:48:11,680 --> 01:48:12,880 ENLIGHTENING FOR US IS TO 3121 01:48:12,880 --> 01:48:16,080 PARTICIPATE IN THE MONTHLY CALLS 3122 01:48:16,080 --> 01:48:18,800 WHERE PRACTITIONERS FROM AROUND 3123 01:48:18,800 --> 01:48:21,960 THE STATE BASICALLY DISCUSS 3124 01:48:21,960 --> 01:48:27,760 CASES, AND THEY DISCUSS FROM 3125 01:48:27,760 --> 01:48:29,520 WHAT I REMEMBER DOING IN 3126 01:48:29,520 --> 01:48:35,000 RESIDENCY, WHICH IS PRESENTING 3127 01:48:35,000 --> 01:48:36,560 THE CASE, AND THEN ALSO TALKING 3128 01:48:36,560 --> 01:48:37,560 ABOUT THE TESTING, THE RESULTS 3129 01:48:37,560 --> 01:48:43,720 OF THE TESTING, WAS THAT THAT 3130 01:48:43,720 --> 01:48:44,800 THE RIGHT DECISION AND WHAT DID 3131 01:48:44,800 --> 01:48:46,480 THE RESULTS LEAD THEM TO. 3132 01:48:46,480 --> 01:48:49,280 SO AS I AND MY COLLEAGUES HAVE 3133 01:48:49,280 --> 01:48:51,040 LISTEN TODAY THESE DISCUSSIONS, 3134 01:48:51,040 --> 01:48:57,320 IT DOES DEMONSTRATE THE 3135 01:48:57,320 --> 01:48:58,440 IMPORTANCE OF WHAT THIS TESTING 3136 01:48:58,440 --> 01:49:02,160 IS DOING AND THOSE VERY 3137 01:49:02,160 --> 01:49:05,560 PRESCRIBED SITUATIONS, AND IT 3138 01:49:05,560 --> 01:49:07,040 ALSO REMINDS ME THAT WHEN WE 3139 01:49:07,040 --> 01:49:08,720 WERE FIRST LOOKING AT PROJECT 3140 01:49:08,720 --> 01:49:10,880 DEER, THE DOCUMENTS THAT WERE 3141 01:49:10,880 --> 01:49:14,080 AVAILABLE, THEY SPOKE TO DOING 3142 01:49:14,080 --> 01:49:15,920 AN ANALYSIS AFTER A PERIOD OF 3143 01:49:15,920 --> 01:49:17,880 TIME, REALLY STEPPING BACK AND 3144 01:49:17,880 --> 01:49:19,240 LOOKING AT THE DATA TO SHOW WHAT 3145 01:49:19,240 --> 01:49:21,200 THE DATA SHOWS, AND THEN AFTER A 3146 01:49:21,200 --> 01:49:24,760 FEW MORE YEARS, LOOKING AT THE 3147 01:49:24,760 --> 01:49:27,080 DATA TO SEE THE IMPACT ON HEALTH 3148 01:49:27,080 --> 01:49:29,520 COST SAVINGS OR DIFFERENT AREAS, 3149 01:49:29,520 --> 01:49:33,680 AND I KNOW THAT WAS AN 3150 01:49:33,680 --> 01:49:34,720 IMPORTANT -- OF INTEREST TO US, 3151 01:49:34,720 --> 01:49:37,960 AND I THINK THAT WILL CONTINUE 3152 01:49:37,960 --> 01:49:40,040 TO BE OF INTEREST TO ANYONE, AND 3153 01:49:40,040 --> 01:49:42,720 IT REALLY HARKENS BACK TO WHAT 3154 01:49:42,720 --> 01:49:46,600 WAS SAID IN THE FIRST SESSION, 3155 01:49:46,600 --> 01:49:49,560 WHERE THE GENERATION OF DATA IS 3156 01:49:49,560 --> 01:49:54,680 CONSEQUENTIAL TO MOVING FORWARD. 3157 01:49:54,680 --> 01:49:59,240 AND SO I THINK IN TERMS OF 3158 01:49:59,240 --> 01:49:59,880 RECOMMENDATIONS TO OTHER PARENTS 3159 01:49:59,880 --> 01:50:06,000 WHO MAY BE CONSIDERING THIS, THE 3160 01:50:06,000 --> 01:50:10,480 PROMISE OF THAT IS GOOD. 3161 01:50:10,480 --> 01:50:11,520 HEARING ABOUT THE CAUSE ON KIND 3162 01:50:11,520 --> 01:50:15,520 OF THAT IMPLEMENT TALL LEVEL HAS 3163 01:50:15,520 --> 01:50:17,560 BEEN GOOD, BUT WE ARE WAITING 3164 01:50:17,560 --> 01:50:21,160 FOR THE WHOLE PICTURE TO DEVELOP 3165 01:50:21,160 --> 01:50:25,800 AND TO BE PROVIDED AS WE SIT 3166 01:50:25,800 --> 01:50:29,920 BACK AND LOOK AT OUR DECISION. 3167 01:50:29,920 --> 01:50:31,880 >> THANKS FOR BRINGING UP THAT 3168 01:50:31,880 --> 01:50:32,400 CASE REVIEW, LYNNE. 3169 01:50:32,400 --> 01:50:33,520 IT'S SOMETHING THAT WE DID FROM 3170 01:50:33,520 --> 01:50:38,000 THE BEGINNING, ONCE A MONTH, 3171 01:50:38,000 --> 01:50:38,880 ROTATING BETWEEN DIFFERENT 3172 01:50:38,880 --> 01:50:40,480 HOSPITAL, AND WE TRIED TO PROMPT 3173 01:50:40,480 --> 01:50:42,400 PEOPLE TO SAY LIKE WHAT WERE YOU 3174 01:50:42,400 --> 01:50:42,680 THINKING? 3175 01:50:42,680 --> 01:50:45,720 ASK PEOPLE TO BE AS TRANSPARENT 3176 01:50:45,720 --> 01:50:47,320 AS POSSIBLE, AND THEN TO TALK 3177 01:50:47,320 --> 01:50:48,080 THROUGH, SHOULD I HAVE DONE 3178 01:50:48,080 --> 01:50:49,320 SOMETHING DIFFERENT, AND AGAIN, 3179 01:50:49,320 --> 01:50:53,800 THOSE HAVE BEEN OPEN TO 3180 01:50:53,800 --> 01:50:55,280 PROVIDERS, PAYORS, AND IT OPEN 3181 01:50:55,280 --> 01:50:56,520 TO ANYBODY BECAUSE IT REALLY 3182 01:50:56,520 --> 01:50:58,240 HELPS SORT OF START THAT 3183 01:50:58,240 --> 01:51:01,240 DIALOGUE AND HELPS THAT IRON 3184 01:51:01,240 --> 01:51:03,480 SHARPENS IRON TYPE APPROACH. 3185 01:51:03,480 --> 01:51:05,920 >> CALEB, YOU MENTIONED THOSE 3186 01:51:05,920 --> 01:51:07,080 ARE OPEN, DO PEOPLE JUST 3187 01:51:07,080 --> 01:51:08,080 CONTACT, HOW DO PEOPLE -- 3188 01:51:08,080 --> 01:51:09,320 >> YEP, THEY CAN REACH OUT TO 3189 01:51:09,320 --> 01:51:11,200 THE MHA, THEY CAN REACH OUT TO 3190 01:51:11,200 --> 01:51:11,360 ME. 3191 01:51:11,360 --> 01:51:12,160 WE DO THEM EVERY MONTH. 3192 01:51:12,160 --> 01:51:13,520 WE'RE GOING TO BE PLANNING TO DO 3193 01:51:13,520 --> 01:51:15,680 A TOWN HALL IN OCTOBER TO KIND 3194 01:51:15,680 --> 01:51:18,000 OF REPORT OUT FROM EACH 3195 01:51:18,000 --> 01:51:20,240 DIFFERENT HOSPITAL ABOUT HOW HAS 3196 01:51:20,240 --> 01:51:21,120 THE FIRST YEAR GONE FOR YOU. 3197 01:51:21,120 --> 01:51:24,200 WE KNOW THAT THERE ARE 3198 01:51:24,200 --> 01:51:24,840 CHALLENGES AND WE'RE NOT TRYING 3199 01:51:24,840 --> 01:51:26,000 TO BE SHY ABOUT THAT, BUT IT IS 3200 01:51:26,000 --> 01:51:26,960 KIND OF THAT ABILITY TO LEARN 3201 01:51:26,960 --> 01:51:31,640 FROM EACH OTHER, BECAUSE EVERY 3202 01:51:31,640 --> 01:51:32,320 BABY THAT GOES THROUGH THIS 3203 01:51:32,320 --> 01:51:33,320 TEACHES YOU SOMETHING DIFFERENT. 3204 01:51:33,320 --> 01:51:34,720 EVERY TIME I FEEL LIKE, ALL 3205 01:51:34,720 --> 01:51:36,080 RIGHT, WE FINALLY GOT THIS DOWN, 3206 01:51:36,080 --> 01:51:37,320 THE NEXT BABY AND FAMILY COMES 3207 01:51:37,320 --> 01:51:39,280 ALONG AND WE'RE LIKE, HOW DID WE 3208 01:51:39,280 --> 01:51:40,080 NOT THINK OF THAT? 3209 01:51:40,080 --> 01:51:41,400 SO IT'S JUST AN EVOLVING 3210 01:51:41,400 --> 01:51:42,520 PROCESS, BUT I GUESS THAT IS 3211 01:51:42,520 --> 01:51:45,480 RARE DISEASE SOMETIMES. 3212 01:51:45,480 --> 01:51:47,560 >> IT SEEMS LIKE THAT COULD BE 3213 01:51:47,560 --> 01:51:48,280 HELPFUL POTENTIALLY TO PEOPLE IN 3214 01:51:48,280 --> 01:51:49,440 OTHER STATES THAT ARE THINKING 3215 01:51:49,440 --> 01:51:51,520 ABOUT PUTTING SOMETHING LAKE 3216 01:51:51,520 --> 01:51:53,280 THIS TOGETHER. 3217 01:51:53,280 --> 01:51:55,400 I THINK IT FAIR TO SAY WE'RE 3218 01:51:55,400 --> 01:51:56,400 STRONGER TOGETHER WHEN WE CROWD 3219 01:51:56,400 --> 01:51:57,520 SOURCE OUR KNOWLEDGE AND ARE 3220 01:51:57,520 --> 01:51:58,480 ABLE TO -- IT'S IMPORTANT TO 3221 01:51:58,480 --> 01:52:00,680 ADMIT WHAT WE KNOW BUT TO ADMIT 3222 01:52:00,680 --> 01:52:01,600 EVEN MORE IMPORTANTLY WHAT WE 3223 01:52:01,600 --> 01:52:05,640 DON'T KNOW. 3224 01:52:05,640 --> 01:52:12,840 >> DO YOU YOU THINK THIS -- CALEB, 3225 01:52:12,840 --> 01:52:15,080 WHO THIS SHOULD BE DIRECTED 3226 01:52:15,080 --> 01:52:18,480 TOWARDS, THAT WILL BE CONTINUED 3227 01:52:18,480 --> 01:52:19,960 TO LOOK AT OR REFINE? 3228 01:52:19,960 --> 01:52:21,360 >> I THINK SO, BECAUSE WHEN I 3229 01:52:21,360 --> 01:52:22,920 PRESENTED CASES AT OUR MICHIGAN 3230 01:52:22,920 --> 01:52:24,640 REVIEW, I TRIED TO PICK ONES 3231 01:52:24,640 --> 01:52:25,680 WHERE LIKE, MAN, WAS THIS THE 3232 01:52:25,680 --> 01:52:26,520 RIGHT THING TO DO? 3233 01:52:26,520 --> 01:52:28,120 WE'VE HAD A COUPLE OF KIDS THAT 3234 01:52:28,120 --> 01:52:31,000 WERE TEENAGERS THAT WE'VE USED 3235 01:52:31,000 --> 01:52:32,240 WHOLE GENOME SEQUENCING ON, AND 3236 01:52:32,240 --> 01:52:33,320 WE FOUND SOMETHING. 3237 01:52:33,320 --> 01:52:38,000 SO IT'S JUST LIKE, HEY, THIS WAS 3238 01:52:38,000 --> 01:52:40,240 DIFFERENT OR -- SO AGAIN, EVERY 3239 01:52:40,240 --> 01:52:42,360 CHANCE YOU GET TO TRY TO REFINE 3240 01:52:42,360 --> 01:52:44,560 THINGS A LITTLE BIT BECAUSE I 3241 01:52:44,560 --> 01:52:45,880 STILL DON'T THINK WE LANDED ON 3242 01:52:45,880 --> 01:52:49,000 THE RIGHT POPULATION FOR TESTING 3243 01:52:49,000 --> 01:52:50,360 FOR COVERAGE. 3244 01:52:50,360 --> 01:52:51,400 WE'RE STILL IN EARLY DAYS SO 3245 01:52:51,400 --> 01:52:52,920 THIS IS AN EXCITING TIME OF 3246 01:52:52,920 --> 01:52:53,200 LEARNING. 3247 01:52:53,200 --> 01:52:54,520 >> AND I THINK AS YOU BOTH 3248 01:52:54,520 --> 01:52:56,120 POINTED OUT, WE'RE BARELY A YEAR 3249 01:52:56,120 --> 01:52:57,040 INTO THIS IN THE STATE OF 3250 01:52:57,040 --> 01:52:57,520 MICHIGAN. 3251 01:52:57,520 --> 01:52:59,920 AS WELL. 3252 01:52:59,920 --> 01:53:00,600 SO STAY TUNED. 3253 01:53:00,600 --> 01:53:04,000 SO BRIAN ACTUALLY GETS THE LAST 3254 01:53:04,000 --> 01:53:05,200 QUESTION BEFORE EVERYONE ON THE 3255 01:53:05,200 --> 01:53:09,680 PANEL GETS TO ANSWER A QUESTION. 3256 01:53:09,680 --> 01:53:11,480 SO BRIAN IS JUST GOING A LITTLE 3257 01:53:11,480 --> 01:53:12,600 DEEPER INTO THE ISSUE ABOUT 3258 01:53:12,600 --> 01:53:13,040 COVERAGE. 3259 01:53:13,040 --> 01:53:16,280 BECAUSE SOME STATES HAVE ELECTED 3260 01:53:16,280 --> 01:53:17,520 TO BUNDLE PAYMENT FOR THIS 3261 01:53:17,520 --> 01:53:18,440 SERVICE, SO IN OTHER WORDS, IN 3262 01:53:18,440 --> 01:53:21,000 TERMS OF COVERING THE WHOLE 3263 01:53:21,000 --> 01:53:22,200 RAPID WHOLE GENOME SEQUENCING, 3264 01:53:22,200 --> 01:53:23,520 SO SOME ARE BUNDLING IT AS PART 3265 01:53:23,520 --> 01:53:25,720 OF A FLAT FEE BASED ON 3266 01:53:25,720 --> 01:53:26,280 DIAGNOSIS. 3267 01:53:26,280 --> 01:53:29,840 WHILE OTHER STATES HAVE CREATED 3268 01:53:29,840 --> 01:53:32,920 A SEPARATE CODE OF REIMBURSEMENT 3269 01:53:32,920 --> 01:53:34,680 FOR SERVICES AND CAN YOU SPEAK A 3270 01:53:34,680 --> 01:53:35,880 LITTLE MORE HOW MICHIGAN 3271 01:53:35,880 --> 01:53:37,880 MEDICAID HAS ADDRESSED THIS? 3272 01:53:37,880 --> 01:53:38,560 >> SURE. 3273 01:53:38,560 --> 01:53:39,880 I THINK I ALLUDED TO IT A LITTLE 3274 01:53:39,880 --> 01:53:41,600 BIT IN MY LAST ANSWER, BUT WE 3275 01:53:41,600 --> 01:53:46,000 ARE PAYING FOR IT SEPARATELY. 3276 01:53:46,000 --> 01:53:47,920 AS A PROFESSIONAL FEE SCHEDULE, 3277 01:53:47,920 --> 01:53:49,920 THERE'S A COUPLE DIFFERENT CODES 3278 01:53:49,920 --> 01:53:54,080 THAT WE REIMBURSE. 3279 01:53:54,080 --> 01:53:57,720 THE ONE THING I WOULD NOTE, 3280 01:53:57,720 --> 01:53:58,600 WE -- THE DEPARTMENT ARE PAYING 3281 01:53:58,600 --> 01:54:00,080 FOR THIS ON A FEE FOR SERVICE 3282 01:54:00,080 --> 01:54:01,280 BASIS REGARDLESS OF THE FACT 3283 01:54:01,280 --> 01:54:03,200 THAT ALMOST ALL -- AND IN 3284 01:54:03,200 --> 01:54:04,720 MICHIGAN, WE DO COVER OUR -- AT 3285 01:54:04,720 --> 01:54:08,560 LEAST OUR INITIAL STEP IS TO 3286 01:54:08,560 --> 01:54:13,240 COVER THROUGH AGE 1. 3287 01:54:13,240 --> 01:54:14,320 BUT NEARLY ALMOST ALL OF THOSE 3288 01:54:14,320 --> 01:54:16,680 BABIES ARE IN A MEDICAID HEALTH 3289 01:54:16,680 --> 01:54:17,920 PLAN, SO THIS DOESN'T INCREASE 3290 01:54:17,920 --> 01:54:20,240 THE HEALTH PLAN'S LIABILITY. 3291 01:54:20,240 --> 01:54:21,080 IT'S JUST THE HEALTH PLAN WOULD 3292 01:54:21,080 --> 01:54:25,520 BE PAYING FOR THE HOSPITAL STAY, 3293 01:54:25,520 --> 01:54:27,880 BABIES IN THE NICU ARE GENERALLY 3294 01:54:27,880 --> 01:54:32,320 WHAT'S OCCURRING FOR US SO FAR. 3295 01:54:32,320 --> 01:54:33,000 BUT OUTSIDE OF THAT, THE 3296 01:54:33,000 --> 01:54:37,000 DEPARTMENT WILL BE PAYING FOR 3297 01:54:37,000 --> 01:54:38,720 THIS ON A FEE FOR SERVICE BASIS 3298 01:54:38,720 --> 01:54:44,480 DIRECTLY TO THE HOSPITAL. 3299 01:54:44,480 --> 01:54:45,520 >> THANK YOU FOR THAT ANSWER, 3300 01:54:45,520 --> 01:54:46,040 BRIAN. 3301 01:54:46,040 --> 01:54:48,080 AND IN IN THE COUPLE MINUTES WE 3302 01:54:48,080 --> 01:54:52,440 HAVE LEFT HERE, I'M GOING TO 3303 01:54:52,440 --> 01:54:53,520 THROW OUT SHORT RESPONSE 3304 01:54:53,520 --> 01:54:55,120 QUESTIONS FOR EVERYONE TO TAKE A 3305 01:54:55,120 --> 01:54:56,240 CRACK AT, WHICH IS, WHAT CLOSING 3306 01:54:56,240 --> 01:54:57,880 ADD VASE WOULD YOU OFFER TO 3307 01:54:57,880 --> 01:55:01,640 PATIENTS, PAYORS OR OTHER 3308 01:55:01,640 --> 01:55:03,280 STAKEHOLDERS WHO WANT TO ADVANCE 3309 01:55:03,280 --> 01:55:07,400 EQUITY AND ACCESS TO CLINICAL 3310 01:55:07,400 --> 01:55:07,840 SEQUENCING? 3311 01:55:07,840 --> 01:55:09,480 SOME I KNOW HAVE GIVEN THAT IN 3312 01:55:09,480 --> 01:55:10,600 YOUR ANSWERS BUT IF YOU'RE 3313 01:55:10,600 --> 01:55:12,520 RIDING UP THAT ELEVATOR WITH 3314 01:55:12,520 --> 01:55:13,600 SOMEONE, WHAT WOULD YOU WANT TO 3315 01:55:13,600 --> 01:55:16,200 QUICKLY SAY WITH THEM? 3316 01:55:16,200 --> 01:55:18,040 >> I GUESS I WOULD SAY IT TAKES 3317 01:55:18,040 --> 01:55:22,520 A VILLAGE. 3318 01:55:22,520 --> 01:55:27,520 TO BOTH DEFINE EQUITY AND TO 3319 01:55:27,520 --> 01:55:30,320 ADVANCE EQUITY, ESPECIALLY 3320 01:55:30,320 --> 01:55:32,120 WITHIN THE GENOMIC SPACE. 3321 01:55:32,120 --> 01:55:33,520 WE NEED PARTICIPATION FROM 3322 01:55:33,520 --> 01:55:35,120 MULTIPLE ENTITIES AND I THINK 3323 01:55:35,120 --> 01:55:36,440 WE'RE SEEING THAT HERE. 3324 01:55:36,440 --> 01:55:38,720 IT'S BEYOND JUST WHAT A PAYOR 3325 01:55:38,720 --> 01:55:41,000 CAN DO. 3326 01:55:41,000 --> 01:55:43,520 IT'S A GROUP ACTIVITY. 3327 01:55:43,520 --> 01:55:46,880 THE IMPORTANCE OF DATA IN 3328 01:55:46,880 --> 01:55:50,760 UTILITY REMAINS THE DRIVING 3329 01:55:50,760 --> 01:55:53,360 FORCE THAT WILL PROPEL CHANGE IN 3330 01:55:53,360 --> 01:55:56,600 THIS AREA. 3331 01:55:56,600 --> 01:55:59,760 AND LEADERSHIP COMES FROM ALL 3332 01:55:59,760 --> 01:56:01,320 AREAS FROM BOTH THE PRIVATE 3333 01:56:01,320 --> 01:56:05,360 SECTOR AND FROM THE PUBLIC 3334 01:56:05,360 --> 01:56:10,560 SECTOR AND THE GOVERNMENT. 3335 01:56:10,560 --> 01:56:14,600 >> I CAN ADD ON TO THAT. 3336 01:56:14,600 --> 01:56:16,800 TALK ABOUT IT TONIGHT AT DINNER, 3337 01:56:16,800 --> 01:56:18,320 RIGHT, TALK ABOUT IT WITH YOUR 3338 01:56:18,320 --> 01:56:19,320 BOSS, WITH YOUR TEAM. 3339 01:56:19,320 --> 01:56:20,400 THIS IS COOL STUFF. 3340 01:56:20,400 --> 01:56:21,160 THIS IS CHANGING HEALTHCARE. 3341 01:56:21,160 --> 01:56:22,560 AND NO MATTER WHAT YOUR ROLE IN 3342 01:56:22,560 --> 01:56:24,520 ALL OF THIS IS, WE ALL HAVE A 3343 01:56:24,520 --> 01:56:27,320 GENOME, WE ALL HAVE ERRORS IN 3344 01:56:27,320 --> 01:56:28,400 IT, AND SOMETIMES IT MANIFESTS 3345 01:56:28,400 --> 01:56:30,280 AS DISEASE, AND WHAT A WONDERFUL 3346 01:56:30,280 --> 01:56:31,320 THING THAT WE CAN FIND IT AND DO 3347 01:56:31,320 --> 01:56:32,200 THINGS ABOUT IT NOW. 3348 01:56:32,200 --> 01:56:33,120 SO I THINK JUST CONTINUING TO 3349 01:56:33,120 --> 01:56:35,120 HAVE THIS BE PART OF OUR 3350 01:56:35,120 --> 01:56:37,920 CONVERSATION IN HEALTHCARE, 3351 01:56:37,920 --> 01:56:39,120 HEALTHCARE POLL SEAL AND RARE 3352 01:56:39,120 --> 01:56:41,560 DISEASE POLICY AND RARE 3353 01:56:41,560 --> 01:56:44,000 DISEASE IS CRUCIAL TO MOVING THE 3354 01:56:44,000 --> 01:56:45,560 NEEDLE FORWARD. 3355 01:56:45,560 --> 01:56:47,880 >> BRIAN? 3356 01:56:47,880 --> 01:56:49,560 >> BOY, IT'S HARD TO FOLLOW 3357 01:56:49,560 --> 01:56:53,360 THOSE TWO. 3358 01:56:53,360 --> 01:56:55,480 I DON'T KNOW I HAVE A LOT MORE 3359 01:56:55,480 --> 01:56:57,400 WISDOM TO IMPART OTHER THAN 3360 01:56:57,400 --> 01:56:58,600 COLLABORATION WORKS HERE AND 3361 01:56:58,600 --> 01:56:59,800 ESPECIALLY ON SOMETHING AS KIND 3362 01:56:59,800 --> 01:57:02,120 OF CUTTING EDGE AS THIS. 3363 01:57:02,120 --> 01:57:06,240 SO COLLABORATE WITH PEOPLE IN 3364 01:57:06,240 --> 01:57:07,320 THE FIELD THAT HAVE PASSION AND 3365 01:57:07,320 --> 01:57:08,320 KNOW WHAT THEY'RE DOING. 3366 01:57:08,320 --> 01:57:09,560 >> AND BEING ABLE TO LEARN FROM 3367 01:57:09,560 --> 01:57:10,360 EACH OTHER, RIGHT? 3368 01:57:10,360 --> 01:57:13,120 >> YES. 3369 01:57:13,120 --> 01:57:14,160 >> LAURA. 3370 01:57:14,160 --> 01:57:17,280 >> I JUST WANT TO POINT OUT, FOR 3371 01:57:17,280 --> 01:57:18,280 THOSE -- I HOPE PEOPLE CAN SEE, 3372 01:57:18,280 --> 01:57:20,320 I CHANGED MY NAME ON THE SCREEN 3373 01:57:20,320 --> 01:57:21,920 TO MY EMAIL ADDRESS, SO IF 3374 01:57:21,920 --> 01:57:23,640 PEOPLE ARE LOOKING FOR A 3375 01:57:23,640 --> 01:57:27,720 CONNECTION TO OUR MONTHLY CASE 3376 01:57:27,720 --> 01:57:29,280 REVIEW, JUST REACH OUT TO ME BY 3377 01:57:29,280 --> 01:57:31,680 EMAIL ANDLY FIGURE OUT WHO CAN 3378 01:57:31,680 --> 01:57:33,160 GET -- I WILL FIGURE OUT WHO CAN 3379 01:57:33,160 --> 01:57:34,760 GET THAT TO YOU FROM OUR 3380 01:57:34,760 --> 01:57:35,120 ORGANIZATION. 3381 01:57:35,120 --> 01:57:36,560 AND MY CLOSING COMMENT IS, YOU 3382 01:57:36,560 --> 01:57:38,320 KNOW, I LEARNED A LITTLE BIT OF 3383 01:57:38,320 --> 01:57:39,480 SOMETHING AS WE WENT ALONG WITH 3384 01:57:39,480 --> 01:57:41,680 THIS, AND SO MY ADVICE IS TO 3385 01:57:41,680 --> 01:57:46,040 THOSE WHO ARE PURSUING THIS IS 3386 01:57:46,040 --> 01:57:50,280 MAYBE -- I'M GOING TO SAY -- I 3387 01:57:50,280 --> 01:57:51,360 DON'T FEEL LIKE WE WERE 3388 01:57:51,360 --> 01:57:52,960 OVERSELLING IT, BUT I WENT INTO 3389 01:57:52,960 --> 01:57:56,120 THIS THINKING WE WERE GOING TO 3390 01:57:56,120 --> 01:57:57,480 HAVE THIS A LOT OF MIRACLES, A 3391 01:57:57,480 --> 01:57:59,200 LOT OF LIKE, IF WE JUST KNEW 3392 01:57:59,200 --> 01:58:01,920 ABOUT THIS GENETIC THING, THIS 3393 01:58:01,920 --> 01:58:02,920 VERY ILL CHILD, THERE'S GOING TO 3394 01:58:02,920 --> 01:58:04,640 BE THIS REALLY GREAT OUTCOME. 3395 01:58:04,640 --> 01:58:07,320 AND A LOT OF THE OUTCOMES AREN'T 3396 01:58:07,320 --> 01:58:07,520 GREAT. 3397 01:58:07,520 --> 01:58:15,600 AND SO I JUST WANT TO -- I GUESS 3398 01:58:15,600 --> 01:58:16,920 PREPARE YOURSELF FOR THE GOOD 3399 01:58:16,920 --> 01:58:18,000 NEWS IS THAT EVERYBODY SEEMS TO 3400 01:58:18,000 --> 01:58:22,280 GET A LOT OF COMFORT FROM THIS. 3401 01:58:22,280 --> 01:58:23,920 BUT ON THE OTHER SIDE OF IT IS, 3402 01:58:23,920 --> 01:58:27,640 YOU KNOW, THERE ARE A LOT OF -- 3403 01:58:27,640 --> 01:58:30,600 A LOT OF THINGS GOING TO THE 3404 01:58:30,600 --> 01:58:32,320 LIBRARY, LIKE DR. KORF SAID, 3405 01:58:32,320 --> 01:58:33,520 WHERE EVERY TIME WE FIND 3406 01:58:33,520 --> 01:58:36,800 SOMETHING OUT, WE GET TO -- WE 3407 01:58:36,800 --> 01:58:37,960 PUT IT IN THE FILE AND YOU FIND 3408 01:58:37,960 --> 01:58:39,840 A LOT OF KIDS THAT MAYBE SHARE 3409 01:58:39,840 --> 01:58:40,560 THAT CIRCUMSTANCE OR SOMEBODY 3410 01:58:40,560 --> 01:58:42,560 WILL LEARN FROM IT NEXT TIME. 3411 01:58:42,560 --> 01:58:43,960 BUT IT MIGHT BE THAT THOSE 3412 01:58:43,960 --> 01:58:46,320 CHILDREN THAT WE FIND THAT OUT 3413 01:58:46,320 --> 01:58:47,560 ABOUT DON'T HAVE A GREAT 3414 01:58:47,560 --> 01:58:51,040 OUTCOME, AND I WAS REALLY KIND 3415 01:58:51,040 --> 01:58:52,360 OF TAKEN ABACK, I GUESS, WITH 3416 01:58:52,360 --> 01:58:53,560 HOW MANY OF THOSE TIMES THAT 3417 01:58:53,560 --> 01:58:55,320 THAT HAPPENED, AND SO JUST MAYBE 3418 01:58:55,320 --> 01:58:57,560 KIND OF BE AWARE OF THAT AS 3419 01:58:57,560 --> 01:58:58,800 YOU'RE WORKING ON THIS. 3420 01:58:58,800 --> 01:59:01,360 IT'S NOT THAT IT'S BAD. 3421 01:59:01,360 --> 01:59:04,320 IT'S JUST THAT IT'S NOT -- 3422 01:59:04,320 --> 01:59:05,880 THEY'RE NOT ALL MIRACLES, AND I 3423 01:59:05,880 --> 01:59:08,360 GUESS I KIND OF HAD THAT -- I 3424 01:59:08,360 --> 01:59:11,400 KIND OF WAS A LITTLE UNPREPARED 3425 01:59:11,400 --> 01:59:12,440 FOR ALL THAT. 3426 01:59:12,440 --> 01:59:14,160 BUT I'M NOT A CLINICIAN, SO I 3427 01:59:14,160 --> 01:59:17,600 PROBABLY -- YOU KNOW, I WAS 3428 01:59:17,600 --> 01:59:21,520 PROBABLY OVERESTIMATING, BUT SO 3429 01:59:21,520 --> 01:59:22,120 JUST HAVE THAT IN THE BACK OF 3430 01:59:22,120 --> 01:59:23,520 YOUR MIND, I GUESS IS WHAT I'M 3431 01:59:23,520 --> 01:59:23,720 SAYING. 3432 01:59:23,720 --> 01:59:25,560 >> SO LAURA, AS YOU PUT YOUR 3433 01:59:25,560 --> 01:59:26,760 NAME UP THERE, MY UNDERSTANDING 3434 01:59:26,760 --> 01:59:30,040 IS THAT THERE ARE OVER 1300 3435 01:59:30,040 --> 01:59:32,320 ATTENDING TODAY, SO I HOPE YOUR 3436 01:59:32,320 --> 01:59:33,560 MAILBOX IS PREPARED TO HANDLE 3437 01:59:33,560 --> 01:59:35,560 WHAT COULD BE AN INFLUX OF -- 3438 01:59:35,560 --> 01:59:36,920 >> THAT'S NO PROBLEM. 3439 01:59:36,920 --> 01:59:40,920 >> MHA HAS A WEBSITE FOR PROJECT 3440 01:59:40,920 --> 01:59:44,560 BABY DEER, CORRECT? 3441 01:59:44,560 --> 01:59:46,040 >> I'LL CHECK AND MAKE SURE WE 3442 01:59:46,040 --> 01:59:50,040 STILL HAVE EVERYTHING ALL UP TO 3443 01:59:50,040 --> 01:59:52,520 DATE. 3444 01:59:52,520 --> 01:59:54,320 >> WELL, I WANT TO THANK OUR 3445 01:59:54,320 --> 01:59:55,880 PANELISTS FOR THEIR WONDERFUL 3446 01:59:55,880 --> 01:59:58,000 INSIGHT AND KIND OF SHARING THE 3447 01:59:58,000 --> 01:59:58,920 ANSWERS TO THE QUESTIONS THAT WE 3448 01:59:58,920 --> 02:00:00,200 ARE ALL INTERESTED IN IN TERMS 3449 02:00:00,200 --> 02:00:01,120 OF HOW THIS IS DONE. 3450 02:00:01,120 --> 02:00:03,920 IT'S REALLY BEEN VERY 3451 02:00:03,920 --> 02:00:07,120 ENLIGHTENING AND WITH THAT I AM 3452 02:00:07,120 --> 02:00:08,560 ACTUALLY GOING TO TURN IT OVER 3453 02:00:08,560 --> 02:00:10,120 TO MAX BRONSTEIN AND ALSO JUST 3454 02:00:10,120 --> 02:00:14,760 AS I TURN IT OVER, JUST WANT TO 3455 02:00:14,760 --> 02:00:15,760 AGAIN THANK MAX AND THE 3456 02:00:15,760 --> 02:00:16,960 ORGANIZERS FOR THIS WONDERFUL 3457 02:00:16,960 --> 02:00:17,720 AFTERNOON THAT WE'VE HAD 3458 02:00:17,720 --> 02:00:19,160 TOGETHER HERE. 3459 02:00:19,160 --> 02:00:21,200 >> THANK YOU, WENDY, AND THANK 3460 02:00:21,200 --> 02:00:24,680 YOU TO OUR LAST PANEL OF 3461 02:00:24,680 --> 02:00:24,920 SPEAKERS. 3462 02:00:24,920 --> 02:00:25,920 SO LET ME AGAIN SAY THANK YOU TO 3463 02:00:25,920 --> 02:00:28,320 ALL OF OUR SPEAKERS WHO JOINED 3464 02:00:28,320 --> 02:00:30,880 TODAY AND FOR PARTICIPATING, AND 3465 02:00:30,880 --> 02:00:31,920 MY THANKS TO OUR AUDIENCE. 3466 02:00:31,920 --> 02:00:33,920 SO WE HAD AN AMAZING TURNOUT 3467 02:00:33,920 --> 02:00:35,640 TODAY, AS WENDY MENTIONED, WE 3468 02:00:35,640 --> 02:00:37,880 ACTUALLY HAD ABOUT 1300 PEOPLE 3469 02:00:37,880 --> 02:00:40,920 REGISTERED FOR THIS EVENT. 3470 02:00:40,920 --> 02:00:42,440 I ALSO HAVE TO SAY THANK YOU TO 3471 02:00:42,440 --> 02:00:45,160 THE NICHD AND OSTP STAFF THAT 3472 02:00:45,160 --> 02:00:46,480 HELPED MAKE TODAY'S EVENT 3473 02:00:46,480 --> 02:00:48,160 POSSIBLE, AND MANY OF YOU HAVE 3474 02:00:48,160 --> 02:00:50,040 ASKED IF THE EVENT WOULD BE 3475 02:00:50,040 --> 02:00:53,520 RECORDED AND INDEED IT WAS. 3476 02:00:53,520 --> 02:00:55,520 AND IT CAN BE FOUND ON THE NIH 3477 02:00:55,520 --> 02:00:58,200 VIDEOCAST WEBSITE AT THE LINK 3478 02:00:58,200 --> 02:00:59,880 BELOW, SO THANK YOU ALL AGAIN 3479 02:00:59,880 --> 02:01:00,880 FOR ATTENDING THE EVENT TODAY 3480 02:01:00,880 --> 02:01:03,880 AND HAVE A WONDERFUL AFTERNOON. 3481 02:01:03,880 --> 00:00:00,000 TAKE CARE.