I'M TASKED WITH TRYING TO GIVE LITTLE BIT OF A BRIEF SUMMARY FROM DAY ONE, AND SET THE STAGE FOR DAY TWO. I'LL CONFESS THAT I DIDN'T HAVE AS MUCH TIME AS I WOULD HAVE LIKED TO HAVE SYNTHESIZE ALL OF THE INFORMATION FROM THE BREAKOUT SESSIONS BUT I THINK SOME OF THAT WILL BE COMING FORWARD AS THE DAY PROKINGS. BUT PROGRESSES. I DID WANT TO INTRODUCE YOU TO A COUPLE THINGS AND I WANTED TO MAKE SURE TO SHOW THE SLIDE THAT DR. BIANCHI HAD INCLUDED IN HER PRESENTATION BUT FOR WHATEVER REASON, WE HAD SOME TECHNICAL GLITCHES. JUST TO LET YOU KNOW ABOUT DOWN SYNDROME RESEARCH FUNDING AT NIH FROM FISCAL YEAR 2008 THROUGH 2018, AND AS YOU'LL NOTICE, BETWEEN AROUND 2008, 2014, OUR INVESTMENT IN DOWN SYNDROME RESEARCH WAS QUITE LIMITED, AND HOVERING AROUND $20 MILLION A YEAR. FOR A CONDITION AS PREVALENT AS DOWN SYNDROME, THAT'S ACTUALLY A SIGNIFICANT PROBLEM, AND THEN BETWEEN 2015-2017, THERE HAD BEEN SOME ADDITIONAL INVESTMENTS ON THE PART OF INSTITUTES AND REALLY WITH THE INCLUDE FUNDING IN FISCAL YEAR 2018, WE WERE ABLE TO SEE A VERY RESPECTABLE BUMP UP TO $60 MILLION IN FISCAL YEAR 2018. AND WE ARE ANTICIPATING THAT THAT NUMBER WILL BE EVEN GREATER IN 2019, AND, IN FACT, I'M LOOKING AT ANNA TO MAKE SURE I SAY THE RIGHT THING, WE ANTICIPATE THAT THE PRESS RELEASE FOR INCLUDE WILL BE RELEASED TOMORROW. IS THAT RIGHT? I CAN TELL YOU THAT ANNA AND LISA KAISER SPENT A LOT OF TIME YESTERDAY EMAILING BACK AND FORTH WITH THE COMMUNICATIONS OFFICE OF THE DIRECTOR AT NIH TO MAKE SURE THIS IS COORDINATED. WE'RE SORRY WE COULDN'T ANNOUNCE IT AT THIS MEETING BUT I DID WANT TO REASSURE EVERYONE THAT THOSE ANNOUNCEMENTS WILL BE COMING OUT VERY SOON, HOPEFULLY TOMORROW, AND THAT FROM THEN ON, IT BECOMES PUBLIC KNOWLEDGE AND WE'LL LOOK FORWARD TO HAVING COORDINATED MESSAGING FROM SOME OF YOUR INSTITUTIONS AND MOVING FORWARD, BECAUSE THIS IS A GREAT OPPORTUNITY TO SEIZE UPON THE GREAT RESEARCH THAT'S GOING TO BE FUNDED AND TO REALLY TAKE ADVANTAGE OF THE EXPERTISE OF THE FOLKS WHO ARE GOING TO BE PARTICIPATING IN THE INCLUDE PROJECT TO REALLY HELP PROPEL THE RESEARCH FORWARD. THIS IS A SLIDE I PUT TOGETHER. FOR THOSE OF YOU WHO PRESENTED AT THE ROUND ROUND ROBINS YESTERDY, WE HAD ALSO SENT OUT THIS SPREADSHEET. AN EXCEL SPREADSHEET ON A COMPUTER SCREEN IN POWERPOINT IS IMPOSSIBLE. SO I DIDN'T WANT TO TAKE THE TIME TO ACTUALLY TRY TO SHOW YOU THE ENTIRE SPREADSHEET BUT I WANT TO SHOW YOU THE DATA FIELDS WE REQUESTED FROM EACH OF THE PARTICIPANTS WHO WAS TALKING ABOUT THEIR VARIOUS PROJECTS OR THEIR PROGRAM WITH RESEARCH IN DOWN SYNDROME, AND SO THESE ARE THE FIELDS THAT WE COLLECTED, AS I MENTIONED, 33 COHORTS WERE SHARED WITH US FROM I THINK ABOUT -- HOW MANY TOTAL WERE THER YESTERDAY? BETWEEN THE ROUND ROBINS? ABOUT 12 PEOPLE? 14? OKAY. SO THAT'S IMPRE SELF, AND WE KNOW THIS IS ACTUALLY NOT EVERYTHING, SO THERE ARE COHORTS THAT WE DIDN'T CAPTURE FROM MANY OF YOU SITTING IN THIS HALL AND FROM OTHER PEOPLE DOING DOWN SYNDROME-RELATED RESEARCH. SO I THINK ONE OF THE TAKEAWAYS FROM THAT EXERCISE, WHICH I THINK WAS VERY VALUABLE, WAS SORT OF LIKE A DRINKING FROM THE FIRE HOSE OF ALL THE DIFFERENT TYPE OF RESEARCH BEING DONE RELATED TO COHORTS IN DOWN SYNDROME, IS TO ENSURE THAT WE CAN EXPAND THIS INVENTORY TO INCLUDE COHORTS THAT HAVE NOT ALREADY BEEN COLLECTED AND CATALOGED. IF YOU THINK WE ARE MISSING A DATA FIELD OR A CRITICAL FIELD WE SHOULD INCLUDE, WE CAN CERTAINLY INCORPORATE THAT. THIS HAS BEEN THROUGH A COUPLE ROUNDS OF REVIEW BUT I DON'T PROMISE THAT IT'S COMPREHENSIVE. THE KEY IS ALWAYS TO ASK ENOUGH INFORMATION TO MAKE IT MEANINGFUL BUT NOT SO MUCH INFORMATION THAT IT BECOMES BURDENSOME. AND I THINK THE ONLY THING I MIGHT ADD AT THE END IS THE EMAIL CONTACT INFORMATION -- THE EMAIL OF THE PERSON WHO IS THE CONTACT PERSON FOR EACH OF THESE COHORTS, BECAUSE ONE OF THE SUGGESTIONS THAT WAS MADE TO ME YESTERDAY AT LUNCH WHEN WE WERE GOING THROUGH THE SORT OF BLITZ ROUNDS OF THE ROUND ROBIN WAS THAT, WOW, SOME OF THOSE COHORTS MIGHT ACTUALLY BE REALLY GOOD VALIDATION COHORTS FOR MY OWN STUDY AND WOULDN'T IT BE GREAT TO BE ABLE TO CONTACT SOME OF THOSE FOLKS AND SHARE DATA, SHARE SAMPLES OR SHARE PATIENT INFORMATION, OBVIOUSLY IN A PII HAD BEEN COMPLIANT WAY, BUT ESSENTIALLY WAYS IN WHICH WE CAN COORDINATE SOME OF THE DATA COLLECTION AND POTENTIALLY SHARE SOME OF THOSE COHORTS. SO THAT'S WHAT I WANTED TO PRESENT WITH REGARD TO THE ROUND ROBINS. WITH REGARD TO THE WORKING GROUPS FOR DAY TWO, I'M SORRY, FOR DAY ONE, I WAS ABLE TO CULL TOGETHER SOME OF THE INFORMATION, PARTICULARLY FROM THE FIRST GROUP IN PART BECAUSE I WAS PARTICIPATING IN THAT GROUP, SO BREAKOUT SESSION A WAS FOCUSING ONCOOCCURRING CONDITIONS ACROSS THE LIFESPAN, AND ONE OF THE TAKEAWAYS THAT I HEARD FROM THAT GROUP WAS HOW THERE ARE SORT OF THREE KEY DOMAINS WHERE INDIVIDUALS WITH DOWN SYNDROME ARE LIKELY TO HAVE MEDICAL ISSUES AS THEY AGE. THESE ACTUALLY SORT OF FOLLOW PEOPLE THROUGHOUT THE LIFESPAN. SO WITH REGARD TO GROWTH AND METABOLISM, THERE CAN CERTAINLY BE ISSUES WITH REGARD TO OBESITY, BMI, METABOLIC SYNDROME, PHYSIOLOGIC ISSUES, THERE CAN CERTAINLY BECOME ISSUES WITH REGARD TO MENTAL HEALTH AND BEHAVIORAL COMPLICATIONS RELATED TO EVERYTHING FROM COGNITION TO MOOD DISORDERS, ATTENTION REGRESSION AND COMMUNICATION ISSUES AND THEN THE THIRD LARGE DOMAIN WHERE WE ALSO HAVE CONCERNS OR THAT THERE'S A SIGNIFICANT IMPACT ON LONG TERM OUTCOMES IS IN THE ARENA OF SLEEP, WHERE WE CAN MEASURE THAT USING POLYSOMNOGRAPHY. IT WAS A HELPFUL ORGANIZING FRAMEWORK TO THINK ABOUT THE CO-OCCURRING CONDITIONS IN DOWN SYNDROME ACROSS THE LIFESPAN, AND HOW TO ENSURE THAT WE COLLECT ACTIVE INFORMATION. AND THEN THERE WAS ALSO AN EFFORT TO DEVELOP A MINIMUM COMMON DATASET. THIS IS NOT DESIGNED TO BE COMPREHENSIVE, BUT IF WE WERE TO TRY TO COMBINE COHORTS, EITHER THOSE THAT HAVE ALREADY BEEN COLLECTED AND MIGHT NEED A LITTLE BIT OF ADDITIONAL DATA TO BE COLLECTED TO BE SORT OF THIS MINIMUM COMMON DATASET OR THOSE THAT WE WILL BE PROSPECTIVELY GATHERING, THIS IS THE INFORMATION THAT THIS GROUP THOUGHT WOULD BE A KEY STARTING POINT THAT WOULD ACTUALLY ALLOW US TO MAKE SURE THAT WE HAVEN'T MISSED SOMETHING CRITICAL THAT WOULD BE IMPORTANT FOR UNDERSTANDING THE LIFELONG IRK ISSUES RELATED TO DOWN SYNDROME. THIS WASN'T BROKEN DOWN BY AGE DELIBERATELY, ALTHOUGH SOME OF THESE COMPONENTS ARE MORE THAN POTENTIALLY -- WITH AGE, INCLUDING A TOOL FOR FUNCTIONAL ASSESSMENT AND ALSO BASELINE COGNITIVE ABILITIES. SO THIS IS A STARTING POINT AND I THINK THERE'S POTENTIAL FOR MORE WORK TO BE DONE IN THIS DOMAIN. WITH REGARD TO BREAKOUT SESSION B WHICH WAS FOCUSING ON OMICS COLLECTIONS FOR DOWN SYNDROME POPULATIONS. WE HEARD A CONSENSUS, IF THERE IS SUCH A THING WITH A LARGE GROUP OF PEOPLE GATHERED TOGETHER, THAT GENOMICS, WHOLE GENOME SEQUENCING WOULD BE AT LEAST A MINIMUM OF THE DESIRED OMICS-TYPE DATASETS THAT WOULD BE COLLECTED, BUT THERE WAS ALSO A GREAT DEAL OF INTEREST IN GOING BEYOND WHOLE GENOME SEQUENCING AND CONSIDERING METABOLOMICS, PROTEOMICS AND SOME OF THE OTHER OMICS COLLECTIONS AS WELL, WITH, OF COURSE, THE KEY ELEMENT BEING THAT THERE BE SOME COORDINATION WITH THE PHENOTYPIC INFORMATION AND THE OTHER INFORMATION THAT WOULD BE GATHERED. AND THERE WERE ALSO SOME SPECIFIC RECOMMENDATIONS IN TERMS OF WHAT WOULD BE THE MINIMAL REQUIREMENTS IN TERMS OF SAMPLE COLLECTION, BECAUSE IF YOU WANT TO ANTICIPATE THE FUTURE AND WHAT TYPES OF OMICS NEEDS WE MIGHT HAVE IN THE FUTURE, IT WOULD BE IDEAL TO MAKE SURE THAT YOU'VE ALREADY COLLECTED THOSE SPECIMENS. SO THERE WAS SOME REALLY HELPFUL DISCUSSION RELATED TO THAT AND I THINK ALSO THERE WAS A BIT DISCUSSION ABOUT OTHER SOURCES OF TISSUES THAT MIGHT BE OF SOME VALUE AS WELL IN THE FUTURE. BREAKOUT SESSION C WAS FOCUSING ON BIOSPECIMEN STORAGE AND DISTRIBUTION, AND WE HEARD A LOT ABOUT THE PROS AND CONS OF HAVING A CENTRALIZED BIOREPOSITORY FOR SPECIMENS VERSUS DISTRIBUTED BIOREPOSITORIES. I'M NOT SURE THAT ISSUE WAS COMPLETELY RESOLVED, ALTHOUGH I THINK THERE WAS SOME VERY HEALTHY DISCUSSION AROUND THE STRENGTHS AND WEAKNESSES OF THOSE TWO DIFFERENT APPROACHES. AND PARTICULAR, WHAT TYPES OF TISSUES SHOULD BE PRIORITIZED AND HOW TO ENCOURAGE FAMILIES TO CONSIDER TISSUE DONATION. YOU CAN'T JUST DO A ONE OFF, IT REALLY NEEDS TO BE BUILDING RELATIONSHIPS WITH CLINICIANS, WORKING CLOSELY WITH FAMILIES AND ADVOCACY GROUPS, AND ENSURING THAT THOSE SPECIMENS ARE COLLECTED IN A MEANINGFUL WAY. THERE WERE ACTUALLY SOME VERY CONCRETE AND HELPFUL GUIDELINES AND POLICIES THAT WERE PROPOSED THAT WOULD HELP FACILITATE SHARING AND ACCESS, INCLUDING HAVING A BIOSPECIMEN ACCESS COMMITTEE FOR WHATEVER TYPES OF BIOSPECIMEN REPOSITORIES, TO ENSURE THAT THERE WOULD BE AN EQUITABLE REVIEW AND DISTRIBUTION OF TISSUES THAT WERE MADE AVAILABLE. THEN FINALLY FOR THE OUTREACH ACTIVITIES AND PARTICIPANT ENGAGEMENT SECTION, THIS PARTICULAR BREAKOUT SESSION HAD A LOT OF REALLY HELPFUL SUGGESTIONS FOR WAYS IN WHICH THERE COULD BE OUTREACH TO THE COMMUNITY, INCLUDING A COMMUNITY HEALTH -- REMIND ME OF THE ACRONYM. COMMUNITY HEALTH WORKERS. OKAY. AND I KNOW THAT THER WAS SOME EFFORT TO DRAW UPON THE EXPERIENCES OF SOME OF THE GROUPS SUCH AS ALL-OF-US, WHICH IS REALLY LOOKING AT FEDERALLY QUALIFIED HEALTH CENTERS AS WELL, PARTICULARLY IN THIS VEXING AND CHALLENGING PROBLEM OF ENSURING THAT THERE IS RECRUITMENT OF MINORITY POPULATIONINGS, AND THOSE POPULATIONS AND THOSE UNDERREPRESENTED IN THE PAST. THERE WERE A LOT OF POSITIVE AND HELPFUL SUGGESTIONS FOR WAYS IN WHICH WE CAN LEVERAGE DS CONNECT, THE DOWN SYNDROME REGISTRY, TO FACILITATE PARTICIPATION AND COMMUNITY ENGAGEMENT. THERE WERE OTHER INTERESTING AND PRODUCTIVE STRATEGIES THAT WERE ALSO PROVIDED AS PART OF THAT WORK GROUP. I KNOW I HAVEN'T DONE JUSTICE TO ALL OF THE WORK THAT YOU DID. BELIEVE ME, WE'RE STILL COMPILING THE INFORMATION AND THERE WERE A LOT OF REALLY HELPFUL NUGGETS FROM THAT DISCUSSION. ONE OF THE MEASURES THAT I PERSONALLY USE IS WHEN I'M IN ONE OF THESE WORKSHOPS AND AN IDEA THAT I THINK IS IMPORTANT AND WORTH GOING BACK TO, I HIGHLIGHT IN YELLOW IN MY OWN NOTES AND I HAVE A LOT OF YELLOW HIGHLIGHTS THAT I HAVE YET TO GET TO AND A PROCESS AND FULLY INTEGRATE, BUT THOSE WILL BE A PART OF OUR WORK GOING FORWARD. SO THAT'S SORT OF AN OVERVIEW. IS THERE ANYTHING COMPELLING THAT PEOPLE FEEL I'VE LEFT OUT OR THAT FOLKS WANTED TO MENTION AS A TAKEAWAY FROM YESTERDAY'S DISCUSSIONS? OKAY. THEN WITHOUT FURTHER ADO, I THINK WE'LL GO AHEAD AND WE WILL MOVE TO THE NEXT SESSION, WHICH IS SESSION 5: FRAMING TALKS TO PREPARE FOR OUR DAY 2 BREAKOUT SESSIONS. SO VALERIE COTTON IS GOING TO BE MODERATING THIS SESSION AND SHE'S GOING TO HELP KEEP US ON TASK. VALERIE, THE FLOOR IS YOURS. >> OKAY. I'M VALERIE COTTON AND I'M THE PROGRAM MANAGER FOR THE GABRIELLA MILLER KIDS FIRST RESEARCH PROGRAM. SO YOU'LL NOTICE THAT THIS MORNING'S SESSION, NOT ALL OF THE SPEAKERS WILL BE ADDRESSING DOWN SYNDROME COHORTS SPECIFICALLY BUT I THINK AN ALTERNATIVE TITLE FOR THIS SESSION COULD BE LESSONS LEARNED FROM OTHER LARGE SCALE DATA EFFORTS. EACH SPEAKER IN TODAY'S SESSION WILL GET 20 MINUTES. I THINK TO HELP KEEP THEM ON TASK, I'LL STAND UP AT 5 MINUTES AND RACHEL WILL HELP KEEP US ON TIME AS WELL. I'LL ALSO ADOPT THE CHARLENE SCHRAMM APPROACH WHERE I'LL START WALKING TOWARDS THE PODIUM AS THOSE 5 MINUTES COME DOWN, AND LET ME INTRODUCE OUR FIRST SPEAKER HERE. THIS IS DR. ALLISON HEATH, DIRECTOR OF DATA TECHNOLOGY AND INNOVATION AT THE CENTER FOR DATA-DRIVEN DISCOVERY IN BIOMEDICAL AT THE CHILDREN'S HOSPITAL OF PHILADELPHIA. SHE IS ALSO THE CO-P.I. FOR THE KIDS FIRST DATA RESOURCE CENTER, WHERE SHE COORDINATES THE DEVELOPMENT OF THE KIDS FIRST DATA RESOURCE PORTAL, WHICH YOU'LL SEE TODAY. SHE WAS ALSO INSTRUMENTAL IN DEVELOPING THE NCI GENOMIC DATA COMMONS AND TODAY SHE'S GOING TO TALK ABOUT THE I.C. AND DATA INFRASTRUCTURE NEEDS TO ACHIEVE INTEROPERABILITY ACROSS NIH DATA EFFORTS. >> THANK YOU, VALERIE. I'M STRUCK AS I'M PUTTING THIS UP HERE HOW AT LEAST A.V. EQUIPMENT HAS GOTTEN A LOT MORE INTEROPERABLE OVER THE YEARS THAT IT'S EASY TO SWITCH THEEN BETWEEN THESE TWO. SO YESTERDAY WAS AN AMAZING DAY, REALLY, REALLY ENJOYED LEARNING A LOT ABOUT THE DIFFERENT RESEARCH AND SCIENCE AND WORK THAT'S GOING ON AROUND DOWN SYNDROME. SO I COME FROM A BACKGROUND OF COMPUTER SCIENCE SO REALLY, YOU KNOW, I THINK GENOMICS HAS BEEN A REALLY DATA INFRASTRUCTURE DRIVER, RIGHT, SO OVER THE LAST COUPLE YEARS, WE'VE SEEN THE COST OF SEQUENCING GO DOWN AS EVERYONE KNOWS, WE'VE REALLY SEEN AN EXPONENTIAL GROWTH OF THE DIFFERENT DATA AND YOU CAN KIND OF SEE AROUND -- IT'S KIND OF SMALL BUT AROUND 2010, THIS REAL INFLEX POINT WHERE WE STARTED GENERATING A HUGE AMOUNT OF DATA AND FOLKS LIKE ME STARTED LOOKING AT IT SAYING THERE'S A LOT OF INTERESTING CHALLENGES HERE AROUND BIG DATA AND REALLY IT CONTINUES TO OUTPACE MAJOR BIG DATA PLATFORMS YOU MIGHT THINK OF INCLUDING TWITTER, U TUBE, YOUTUBE, I THINK THE PROJECTIONS WILL JUST CONTINUE ON. SO THIS REALLY STARTED IN 2010, WHEN I WAS AT UNIVERSITY OF CHICAGO WITH BOB GROSSMAN, THINKING ABOUT HOW CLOUD COMPUTING CAN SUPPORT SCIENCE, AND AS WE MOVE TO GENOMICS, THIS DATA IS SENSITIVE, NEEDS TO BE PROTECTED, WHAT ARE MODELS IN CLOUD COMPUTING WHERE WE CAN DO THIS SECURELY, CAME UP WITH THE BIONIMBUS PROTECTED DATA CLOUD. IN 2012 KIND OF THE EMERGENCE OF THESE CONTROLLED ACCESS CLOUDS, AS VALERIE MENTIONED, I WAS CLOSELY INVOLVED WITH THE TECHNICAL TEAMS THAT LED THEM TO LAUNCH THE NCI GENOMIC DATA COMMONS IN 2016. AND THEN IN THE LAST YEAR, GLOBAL OUTBREAK ALERT & RESPONSE NETWORK ABOUT A YEAR AGO, WE LAUNCHED KIDS FIRST, THE DRC. SO ONE OF THE THINGS I WAS ASKED TO TALK ABOUT TODAY WAS FAIR DATA AND REALLY UNDERSTANDING WHAT THAT MEANS, AND IT'S FUNNY BECAUSE I FEEL LIKE I'VE SPENT MY WHOLE CAREER TALKING ABOUT FAIR BUT LOOKING BACK ON IT, REALLY ONLY IN 2014 WAS FERRILY COINED. THIS WAS REALLY PART OF THIS DATA STARTING TO SHOW UP IN THE BIOMEDICAL LANDSCAPE, HOW DO YOU MANAGE IT, WHAT ARE THE RIGHT WAYS TO DO THIS, ABANDONS REALLY ONLY IN 2016, THE EXACT SAME TIME THE GDC WAS BEING LAUNCHED WERE THE PRINCIPLES EVEN PUBLISHED. SO REFLECTING BACK ON THAT AND KIND OF WHAT WE'VE DONE OVER THE LAST COUPLE YEARS, THINKING ABOUT THIS PUBLICATION, I REVISITED IT THE OTHER NIGHT AND KIND OF LOOKED AT THE VERY FIRST LINE THAT GOOD DATA MANAGE AMOUNT IS NOT A GOAL IN AND OF ITSELF. SO WE TALK ABOUT FAIR A LOT JUST FOR THE SAKE OF FAIR BUT WE AWAYS NEED TO THINK ABOUT THAT IT'S A CONDUIT LEADING TO DISCOVERY AND INNOVATION. SO HOW DO WE MAKE SURE WE'RE USING THOSE PRINCIPLES TOWARDS WHAT EVERYONE WANTS TO ACHIEVE HERE, WHICH IS NEW DISCOVERIES, NEW INTERESTING RESEARCH, AND YOU CAN GO AND LOOK AT THIS UPDATE HERE, AND IF YOU GO AND LOOK AT THIS, A LOT OF THESE ARE VERY TECHNICAL GUIDELINES. THERE'S THINGS ABOUT IDENTIFIERS WHICH I KNOW WE TALKED A LOT ABOUT YESTERDAY, A LOT ABOUT PROTOCOLS, HOW DO WE ACCESS AND DO THESE DIFFERENT KINDS OF PIECES OF DATA. SO I WAS REALLY THINKING HOW FAR HAVE WE COME WITH FAIR. AND I THINK REALLY WE HAVE A MODERN SUITE OF COMMONS OR PLATFORMS OR STACKS OR HOWEVER YOU WANT TO REFER TO THEM THAT REALLY DO THIS. SO AS LONG AS YOU ARE USING A PLATFORM THAT REALLY FOLLOWS A LOT OF THESE PRINCIPLES, YOU AS A RESEARCHER DON'T HAVE TO ALWAYS THINK ABOUT IT ALL THE TIME, AND I THINK THAT'S A REALLY GOOD OUTCOME, IF WE'RE ALWAYS TRYING TO GENERATE IDENTIFIERS, DATA MANAGEMENT PRINCIPLES, IT'S GOING TO INTERFERE WITH DOING THE SCIENCE. SO WE HAVE PLATFORMS TODAY THAT PROVIDE PERSISTENT IDENTIFIER, THEY HAVE DICTIONARIES, THEY HAVE SEARCH INTERFACES. YOU CAN GO TO THE GDC, TO KIDS FIRST, TO THINGS LIKE FIGSHARE, TO DATA SITE, TO GOOGLE, CREATING THE PUBLIC DATASETS. THERE'S FOLKS OUT THERE WORKING ON THIS. THE DATA HAS BEEN BECOME A LOT MORE ACCESSIBLE. I THINK IN THE PAST, YOU'D GO TO THESE DIFFERENT DATABASES, YOU'D HAVE TO CALL UP A COLLEAGUE. YOU STILL HAVE TO DO THIS BUT IT'S STARTING TO EMERGE THAT REALLY BY USING DIFFERENT INTERNET PROTOCOLS, COMMERCIAL CLOUDS, THESE DATA PROTOCOLS FOR ACCESS HAVE STARTED TO COME ABOUT AND I THINK WILL CONTINUE TO IMPROVE. AS SOON AS YOU START SEEING THIS HAPPEN, THERE'S A MANDATE, YOU SAY I REALLY DON'T WANT TO PUT MY DATA IN YOUR CLOSED PROPRIETARY DATABASE, I WANT TO PUT IT IN A PLATFORM WHERE I CAN INTEROPERATE WITH OTHER THINGS. AND THEN REUSABLE. SO WITHIN A PLATFORM COMMONS, DATA CAN BE REANALYZED. I WOULD SAY THAT USUALLY PEOPLE HAVE GOOD PRACTICES AROUND THE DIFFERENT DATA DICTIONARES, THE DIFFERENT PROPERTIES THAT THEY'RE DOING WITHIN THEIR OWN PLATFORM. I WILL PUT A NOTE THAT LICENSING AND DATA SHARING CONSIDERATIONS WHICH JAIME AFTER ME WILL TALK ABOUT STILL POSE DIFFERENT CHALLENGES AND SOLUTIONS. I WILL SAY THAT THIS HAS REALLY HAPPENED BECAUSE BIG DATA REQUIRES YOU TO DO THIS. IF YOU HAVE A TON OF DATA, IT'S EXPENSIVE TO STORE, IT'S EXPENSIVE TO DISTRIBUTE AND IF YOU DON'T MAKE IT FINDABLE, ACCESSIBLE, REUSABLE, THERE'S NO VALUE TO IT. SO WE'VE REALLY ACTUALLY COME FAR ON FAIR. SO WHAT LETTER IS MISSING? INTEROPERABILITY, THE MISSING LETTER. SO THIS IS KIND OF A CONCEPTUAL DIAGRAM THAT WE THINK ABOUT OF THESE DIFFERENT LARGE SCALE NODES THAT ARE EMERGING, AND THEN THE COMMUNITIES THAT EMERGE AROUND THEM, RIGHT? SO WITHIN ANY ONE OF THESE DIFFERENT GEARS AND COLORS, YOU OFTEN HAVE PRE FI GOOD WHAT PRETTY GOOD W HAT I'M GOING TO TALK ABOUT INTEROPERABILITY. THIS IS THE HARD AND UNGLAMOROUS PART OF WHAT WE DO, IS HOW DO I MAKE SURE THAT MY PLATFORM INTEROPERATES WITH YOUR PLATFORM SUCH THAT OUR USERS AND RESEARCHERS CAN NAVIGATE EASILY BETWEEN THEM. AND ONE THING YOU MIGHT SAY IS WHY DON'T WE JUST CENTRALIZE IT ALL? THAT WOULD BE THE MOST EFFICIENT, THE RESEARCH WOULD COME TO ONE PLACE, SEE IT ALL. THE THING IS, I THINK WE RECOGNIZE THAT SENTIZATION ALSO SENT -- CENTRALIZATION HINDERS INNOVATION. ALL THE DIFFERENT ORGAN SYSTEMS, DISEASE TYPES, PEDIATRICS, ADULTS, WE NEED A SYSTEM WHERE PEOPLE CAN COME UP WITH THEIR OWN DOWN SYNDROME PORTALS, THEIR OWN NEW APPLICATIONS TO ANALYZE EMERGING OMICS THAT WE HAVEN'T THOUGHT ABOUT. HOW DO I GO FROM A NODE THAT IS REALLY CANCER-SPECIFIC TO A NODE THAT'S MAYBE MORE PEDIATRIC-SPECIFIC AND FEEL LIKE I CAN MOVE BETWEEN THESE DIFFERENT PLATFORMS? SO YOU CAN'T BE FULLY DECENTRALIZED EITHER OR DISTRIBUTED BECAUSE WE'LL ALL HAVE TO DO THE SAME REDUNDANT THINGS. SO WHAT INTEROPERABILITY GIVES US IS THE ABILITY TO REDUCE DUPLICATION EFFORT WHERE IT'S NEEDED TO MAKE SURE THE DATA FLOWS WHILE ALLOWING THE INNOVATION OF THE DIFFERENT SCIENTIFIC COMMUNITIES TO GROW. AND SO THAT'S WHY I THINK WE DO THIS HARD AND UNGLAMOROUS WORK. SO WITH KIDS FIRST, IT WAS A VERY INTERESTING CHANGE FOR ME COMING FROM A MORE CANCER-FOCUSED OR OFTEN DISEASE-FOCUSED PLATFORM BUILDING IN THAT IT HAS A HUGE DIVERSITY OF DISEASE TYPES. I THINK THE MECHANISMS OF KIDS FIRST AND HOW IT WAS CREATED REALLY BROUGHT TOGETHER THE STRUCTURAL BIRTH DEFECT, CANCER, MANY DIFFERENT COMMUNITIES, AND WHEN WE FIRST SET OUT TO REALLY THINK ABOUT THIS INFRASTRUCTURE, I THINK WE REALLY REALIZED THAT WE NEEDED TO INTEROPERATE WITH OURSELVES FIRST AND THAT'S HOW WE WOULD MEET THE DMANTDZ DEMANDS OF DIFFERENT DATA TYPES. SO WE BUILT OUT A TEAM OF FOLKS AROUND KIND OF THE CORE KIDS FIRST DATA SERVICES, REALLY, REALLY THOUGHT ABOUT WHAT ARE THE KEY COMPONENTS THAT WILL ALLOW US TO ULTIMATELY OPERATE WITH THESE OTHER ONES. AS A PEDIATRIC RESOURCE, WE'RE NEVER GOING TO BE AS LARGE AS SOME OF THESE ADULTERY SOURCES, WE HAVE TO WORK WITH DIFFERENT WORKS. WE HAVE DIFFERENT FRAMEWORK SERVICES THAT WILL GIVE US THE TECHNICAL CAPABILITY, WE HAVE DATA SERVICES, NICOLE WILL TALK ABOUT A LITTLE LATER THIS SESSION, AND THEN REALLY THINKING ABOUT THE PORTAL AS AN ENTRANCE AND KIND OF A WORK SPACE AS A HUB TO JUMP OFF TO THESE OTHER PLACES SO WE HAVE CAVATICA, THE PORTAL IS DEVELOPED IN A TEAM IN MONTREAL, AND WEECH WE'VE REALLY OVER THE LAST YEAR THINK ABOUT BRINGING IN DIFFERENT APPLICATIONS. THERE'S LOTS OF OTHER PEOPLE WHO HAVE THOUGHT THATrd ABOUT HARD ABOUT THIS , LET'S BRING IN OTHER APPLICATIONS THAT WE CAN INTEROPERATE OUR DATA WITH OR INTEROPERATE TO START. THAT ES A WHOLE ROAD MAP OF NEW APPLICATIONS AND INTEGRATIONS, A LOT OF OUR FOCUS IS AROUND GERMLINE DATA, AROUND TRIOS, REALLY ADDRESSING SOME OF THE NEEDS AND GAPS INSTEAD OF DOING WHAT OTHERS HAVE ALREADY DONE. SO I THINK THAT'S TOWARDS THE DEMO. SO WHILE I HAVE MY LAPTOP PLUGGED IN HERE IS TO SHOW YOU THIS LIVE. ANYBODY CAN GO RIGHT NOW TO PORTAL.KIDSFIRST.DRC.ORG. THIS IS LIVE, YOU CAN LOG IN, WHETHER YOU WANT TO DO IT WITH GOOGLE, FACEBOOK, AND REALLY THE LOG-IN HERE IS FOR TWO PURPOSES. ONE IS THAT IT'S A REAL WORKSPACE SO WHEN YOU SIGN IN, YOU ACTUALLY HAVE A DASHBOARD WHERE THERE'S DIFFERENT QUERIES, DIFFERET CAVATICA PROMGS THAT YOU MIGHT HAVE THAT -- PROJECTS YOU MIGHT HAVE DONE. REALLY THIS IS WHAT WE THINK OF AS A REGISTERED TIER, SO SOMEONE WHO LOGGED IN, WE CAN POTENTIALLY THINK ABOUT PERHAPS GETTING MORE ACCESS TO DIFFERENT DATA TYPES. SO WHEN WE FIRST STARTED, WE HAD A REAL BASIC REPOSITORY KIND OF NEED OF MAKING SURE THAT THE FILES WERE ACCESSIBLE, WERE FINDABLE AND RE-USEABLE IN THE CAVATICA WORK SPACE. OVER THE LAST COUPLE MONTHS, I THINK THIS WEEK, AS OUR NEW COHORT BUILDER. SO THIS IS REALLY WHERE YOU CAN START AND EXPLORE SOME OF THE SO YESTERDAY I WAS CURIOUS, DO WE HAVE ANY DOWN SYNDROME DATA RELEASED SO WE DO NOT REALLY, WE HAVE ONE PARTICIPANT THAT SHOWS UP HERE. BUT ONE OF THE THINGS I WANTED TO HIGHLIGHT HERE THAT I THINK NICOLE WILL ALSO TALK MORE ABOUT IS THAT WE REALLY KEEP THE SOURCE DATA FROM THE STUDIES AS WELL, WE REALLY FEEL LIKE THIS IS IMPORTANT BECAUSE PEOPLE HAVE OFTEN NOTED THINGS THAT ARE IMPORTANT FOR THEIR STUDIES, THEIR COLLABORATORS, BUT YOU ALSO NEED TO HARMONIZE IT FOR SECONDARY USE. SO HERE WE HAVE IT HARMONIZED WHERE IT TAKES -- THERE'S MANY OTHER DIFFERENT RARE TYPES SO YOU MIGHT WANT TO KNOW THAT WHEN YOU'RE DOING THIS RESEARCH. HERE IT ALLOWS BOTH SOMEONE WHO MAY BE NAIVE TO THE DISEASE TO COME IN AND FIND IT AS WELL AS SOMEONE WHO MIGHT BE REALLY WELL STUDIED AGAINST IT. SO CURIOUSLY, LET'S SEE, SO THIS IS ACTUALLY A PARTICIPANT FROM THE CONGENITAL HEART DEFECT, WHICH IS THE PCGC WHOLE EXOME STUDY. AND YOU CAN ACTUALLY GO AND LOOK AT THE SPECIFIC PARTICIPANT, SO YOU CAN GO LOOK AT KIND OF SOME OF THEIR BASIC DEMOGRAPHICS, WE HAVE INFORMATION ABOUT THE DIFFERENT BIOSPECIMENS AND THEN WE'RE SLOWLY BUILDING OUT MORE CLINICAL DATA IN TERMS OF DIFFERENT AGES, DIFFERENT DIAGNOSES, DIFFERENT PHENOTYPES THEY MAY HAVE OVER TIME AND REALLY THINKING ABOUT HOW DO WE LOOK AT A PATIENT VIEW. BUT GOING BACK, PART OF THE IDEA OF THIS COHORT BUILDER IS REALLY TO START CROSS INTERSECTING DIFFERENT DISEASE TYPES. SO I WILL SAY THAT THE PCGC STUDY HAS REALLY DONE AN IMPRESSIVE PROFILING OF A LOT OF THE PHENOTYPES, SO WE CAN GO AND LOOK AT THE KIND OF 2000-SOME PARTICIPANTS THAT ARE THERE. WE CAN GO DIVE INTO HPO PHENOTYPES, I CAN SELECT THEM ALL, THAT ACTUALLY REMOVES THE FAMILY MEMBERS BECAUSE A LOT OF THEM DO NOT HAVE THAT PHENOTYPE PROFILING BUT THE PRO BANDS THEMSELVES ARE STILL HERE. I CAN SAY THAT'S INTERESTING BUT REALLY I WANT TO SEE ALL THE PHENOTYPES FROM PCGC ACROSS MULTIPLE STUDIES, SO OROFACIAL CLEFT, HERNIA, EVEN CANCER, SOME OF THE DIFFERENT PHENOTYPES BEING CHARACTERIZED. SO I CAN GO AND IT RAY ITERATE THROUGH, PERHAPS I'M JUST INTERESTED IN THE NEWBORNS, I CAN CLICK AND IN REALTIME IT WILL REFRESH THIS AS WELL AS OTHER DIFFERENT INFORMATION. AGAIN, I COULD ALSO START A NEW QUERY HERE SO IT'S REALLY KIND OF A WORK SPACE WHERE YOU CAN MAYBE BUILD UP INCLUSION/EXCLUSION CRITERIA YOU'D BE INTERESTED IN, AND THINK ABOUT MAYBE I'M INTERESTED IN SOMATIC MUTATIONS SO I'M GOING I WANT TO UNDERSTAND THE TISSUE TYPES, I WANT TO UNDERSTAND EVERYONE WHO HAS NORMAL AN TUMOR, SO THIS IS THE PATIENTS WHO HAVE BOTH HAD THEIR NORMAL TUMOR DESCRIBED, AS YOU CAN IMAGINE, YOU START SEEING MUCH MORE CANCER HERE. ONE OF THE THINGS THAT WE'VE ALSO BEEN WORKING ON IS INTEGRATING INITIALLY WITH THE NCI CANCER RESEARCH DATA COMMONS BUT HOPEFULLY WITH OTHER THINGS EMERGING ACROSS THE LANDSCAPE AT NIH. AND YOU CAN START SEEING WE HAVE WHAT WEVE BEEN CALLING INTEROPERABLE OR COLLABORATIVE DATASETS THAT SHOW UP IN THE SAME VIEW THAT YOU CAN UNDERSTAND AND LOOK AT. YOU CAN KIND OF CONTINUE ON, YOU COULD PERHAPS ORDER THESE QEURS AND LOOK A T CONGENITAL HEART DEFECTS ALONGSIDE OF SOMATIC MUTATIONS, FOR EXAMPLE. SO ONCE YOU'RE DONE HERE LIKE I SAID, YOU'VE LOGGED IN SO YOU CAN SAVE YOUR QUERIES, YOU CAN SHARE THEM, SO I CAN OPEN UP A PREVIOUS ONE VERY SIMILAR THEME OF DOING -- LOOKING AT DIFFERENT HEART DEFECTS, ONES THAT HAVE WHOLE GENOME SEQUENCING, AND THEN AT DIFFERENT AGE RANGES. SO THAT'S GREAT, I CAN FIND, YOU KNOW, MY VIRTUAL COHORT THAT HOPEFULLY EXISTS IN THESE SYSTEMS. AND REALLY FROM HERE, YOU CAN START LOOKING AT THE ACTUAL FILE INFORMATION SO LET ME JUST DRILL DOWN TO SEE. YOU CAN START SEEING THAT THERE'S MULTIPLE DIFFERENT FILES AND THIS WILL TAKE YOU TO THE FILE REPOSITORY, WHERE YOU CAN START SEEING THAT YOU MIGHT HAVE DIFFERENT LEVELS OF ACCESS SO I HAVE ACCESS TO THIS STUDY HERE BUT NOT THIS STUDY HERE, AND THEN REALLY WHAT I CAN DO RIGHT HERE IS IT'S DIRECTLY CONNECTED TO OUR CLOUD-BASED WORK SPACE. SO I CAN GO AND SAY I WILL LOOK AT THESE FILES, I'M GOING TO ANALYZE THEM IN CAVATICA, WHICH -- IT SAYS I DON'T HAVE ACCESS. SO ONE OF THE THINGS IT'S ACTUALLY DOING BEHIND THE SCENES, KIND OF THE TECHNICAL PART THAT ALLOWS THIS TO HAPPEN IS SOMETHING CALLED THE FRAMEWORK SERVICES. AND HERE, WE HAVE TWO INTEGRATIONS. ONE IS WITH THE KIDS FIRST, WHICH IS ACTUALLY BIONIMBUS ON THE BACK END THAT GIVES YOU ACCESS TO DIFFERENT KIDS FIRST DATASETS VIA YOUR DB GAP CREDENTIALS. SO WHAT IT DOES IS IT HAS AN INTEROPERABLE CONNECTION WITH YOUR COMMONS, I CAN LOG IN, THIS IS CALLNG OUT TO NCI'S DATA COMMON FRAMEWORK, WHICH JAIME WILL TALK ABOUT. I SAY YES, THAT I DO TRUST THE NCI. AND THEN WHEN THIS WILL REDIRECT ME, THIS WILL ACTUALLY SEND INFORMATION BACK TO THE KIDS FIRST PLATFORM THAT TELLS ME WHAT DATASETS DO I HAVE ACCESS TO VIA THE NCI PLATFORM. SO YOU'LL SEE THAT I HAVE ACCESS TO THE TWO DIFFERENT TARGET ONES HERE, THE NEUROBLASTOMA AND THE AML. I THINK AS THE DIFFERENT LANDSCAPES EMERGE, WE'RE GOING TO START DOING MORE AND MORE OF THIS BEING ABLE TO HAPPEN, HOW DO WE CONNECT, HOW DO WE HAVE THESE KIND OF INTEROPERABLE TRUSTED CONNECTIONS BETWEEN EACH OTHER. SO I'LL HAVE TO CHECK WITH THE TEAM ABOUT THE PUSH TO CAVATICA BUT JUST VERY BRIEFLY, THIS IS A PLATFORM THAT ALLOWS YOU TO DO BIOINFORMATICS WORK FLOWS, YOUR DATA IS KIND OF IMMEDIATELY POINTED TO IN THE PLATFORM, THERE'S A WHOLE BUNCH OF PUBLIC APPS OUT THERE, YOU CAN BRING YOUR OWN, THERE'S A LOT OF INTERESTING THINGS THAT BIOINFORMATICIANS CAN DO WITH THIS PLATFORM. SO I THINK THAT'S EVERYTHING. THE ONE LAST THING I JUST WANT TO TALK ABOUT REAL QUICK BECAUSE I THINK IT'S USEFUL FOR HERE IS PART OF WHAT WE DO IS KIND OF STANDARD -- IT'S CALLED DCC-LIKE FUNCTIONALITY, WHERE WE TAKE IN A LOT OF THE RETROSPECTIVE CLINICAL DATA AND WE'VE BEEN REALLY THINKING HARD ABOUT NEW MODELS OF HOW TO DO THIS, HOW DO WE GET MORE RAW CLINICAL DATA, HOW DO WE CREATE PACKAGES THAT ARE ALMOST LIKE GENOMIC WORK FLOWS THAT ALLOW US TO HARMONIZE, DO DIFFERENT THINGS, SO YOU CAN ACTUALLY SEE HERE, WE HAVE THE PCGC STUDY HERE WHERE PEOPLE HAVE GONE THROUGH AND DONE THE DIFFERENT ONTOLOGY CREATION. ACTUALLY NICOLE HERE, AS WELL AS KEEPING SOME OF THE STANDARD FILES, AND WE CAN REDONE -- REDO THIS IN AN AUTOMATED FASHION AS WE GET MORE INFORMATION, BETTER CURATION AND BRING THAT INTO THE PLATFORM. SO THESE ARE SOME OF THE THINGS THAT WHEN I THINK ABOUT THE MODE OF THE TRADITIONAL DCC REALLY KIND OF WORKING HARD TO COORDINATE AND DO THINGS KIND OF ON THEIR OWN, I'VE BEEN PART OF THAT BEFORE, YOU KNOW, HAVING THESE PLATFORMS AND TOOLS AND THESE KIND OF MODELS OF HOW TO MAYBE DO THIS BETTER TOGETHER, MORE COLLABORATIVELY, I THINK IS REALLY GOING TO ALLOW US TO ACCELERATE ESPECIALLY THE DATA GETTING IN TO THE PLATFORM, MUCH MORE OF THE BOTTLENECK TODAY MORE THAN DATA GETTING OUT, ALTHOUGH BOTH SIDES OF THE COIN ARE IMPORTANT. THIS IS AN EMERGING LANDSCAPE. I THINK WE'RE GOING TO BE THINKING REALLY HARD ABOUT HOW DO WE INTEROPERATE BETWEEN THESE PLATFORMS, HOW DO THESE PLATFORMS SUPPORT DIFFERENT APPLICATIONS AND DIFFERENT MODELS, AND I'LL JUST END ON A FEW NOTES ABOUT WE THINK A LOT ABOUT THE ANALOG TO DIGITAL SO REALLY WE'RE SEEING PATIENTS, REQUIRING BIOSPECIMENS REALLY IN THE ANALOG WORLD AND OFTENTIMES THE TRANSITION OF THAT TO DIGITAL, WE'RE LOSING INFORMATION. IT'S JUST LIKE MUSIC, WHEN WE WENT FROM ANALOG TO DIGITAL, A LOT OF IT WAS LOW QUALITY, HOW DO WE MAKE THIS MORE HIGH FIDELITY, HOW DO WE TAKE THE SAMPLES AND THE INFORMATION WE'RE GATHERING CLINICALLY AND BRING THAT IN TO DIGITAL SYSTEMS THAT ALLOW THIS INFORMATION TO FLOW. AND ON THE FLIP SIDE, WHICH I WAS REALLY SHOWING HOW DO YOU TAKE THAT OUT AND BACK INTO THE HUMAN WORLD OF TRANSLATIONAL RESEARCH REALLY TESTING THESE HYPOTHESES. AND I THINK THIS IS KIND OF, YOU KNOW, ON OUR PART SOME OF THE GRAND CHALLENGES. AND I THINK INCLUDE, YOU KNOW, FROM WHAT I'VE BEEN HEARING, I THINK THERE'S HUGE OPPORTUNITIES WITH THE PERSPECTIVE. WE'VE LEARNED A LOT RETROSPECTIVELY, TRYING TO EXTRACT SWRAL EU FROM THE VALUE FROM THE DATA WE ALREADY HAVE. NEW DATA IS ABOUT TO BE GENERATED, HOW DO WE REALLY EXAMINE THEM, HOW DO WE FIND OUT WHAT WORKS, WHAT DOESN'T WORK, HOW DO WE INCREASE THE DATA IN, AND HOW DO WE GET THE DATA OUT TO REALLY MAKE AN IMPACT ON THE WORLD. SO THAT'S KIND OF HOW WE THINK ABOUT INFRASTRUCTURE. THE KIDS FIRST DATA RESOURCE CENTER IS AN AMAZING GROUP OF A DIVERSE TEAM OF PARTNERS. I THINK IT'S REALLY IMPORTANT, INTEROPERATING WITHIN EACH OTHER TO MAKE SURE WE CAN INTEROPERATE WITH OTHERS, THE COMMON FUND IS A COLLABORATIVE AGREEMENT, WITH OUR NIH TEAM AS WELL AND I'LL JUST END ON THANKING OUR RESEARCH INSTITUTE AT CHOP AS WELL, THE DB3 CENTER AND THE AMAZING TEAM THERE. [APPLAUSE] >> SO OUR NEXT SPEAKER IS JAIME GUIDRY AUVIL, SHE HAS A LONG RECORD OF COORDINATING DATA SHARING ACTIVITIES WITHIN THE NCI AND NIH, MOST EXTENSIVELY FOR PEDIATRIC CANCER GENOMICS EFFORTS SUCH AS THE TARGET INITIATIVE, AS WELL AS THE KIDS FIRST PROGRAM. AND SHE WILL TELL US ABOUT HOW TO NAVIGATE CHALLENGES FOR RAW DATA SHARING. >> THANK YOU, VALERIE, AND THANK YOU ALL FOR INVITING ME HERE TO SPEAK. I'M GOING TO PROVIDE YOU WITH TWO CAVEATS HERE. UNLIKE ALLISON, I AM NOT A TECHNICAL PERSON, HOWEVER, I WAS ASKED TO, WITHIN TALKING ABOUT SOME CHALLENGES TO BROAD DATA SHARING, TO GIVE A LITTLE BIT OF AN OVERVIEW OF WHAT WE ARE DOING AT NCI IN A TECHNICAL SPACE, SO I WILL DO MY BEST TO COVER THAT BUT IF YOU HAVE ANY QUESTIONS, PLEASE ASK ALLISON HEATH, AS SHE IS RESPONSIBLE IN PARTNERING WITH US ON A LOT OF THAT. AND ALSO I HAVE A LOT OF INFORMATION ON THESE SLIDES, SO AS IT SEEMS I WILL GET THE PROVERBIAL HOOK AT SOME POINT, IF I GO THROUGH THESE AND DON'T MENTION EVERYTHING, PLEASE KNOW THESE SLIDES WILL BE AVAILABLE AND I'M MORE THAN HAPPY TO TALK ABOUT ANY OF THE INFORMATION ON THEM AT A LATER POINT IF WE DON'T GET THROUGH EVERYTHING TODAY. OKAY. SO WHAT IS DATA SHARING? THIS GETS MENTIONED A LOT AND I THINK THROWN AROUND AS A TERM, AND AT A VERY BASE LEVEL, DATA SHARING IS SIMPLY PROVIDING MEANINGFUL INFORMATION BETWEEN MULTIPLE ENTITIES IN ATTEMPT TO IMPROVE A PROCESS OR SYSTEM. IN THE SCIENTIFIC SPACE REALLY THAT'S WORKING BETWEEN INVESTIGATORS AND PROVIDING THAT DATA AND THAT CAN BE DONE IN A NUMBER OF WAYS. SNAIL MAIL, NOT THE DESIRED WAY TO SHARE DRIVES ANYMORE, REALLY MORE PUTTING DATA INTO CONNECTED RELATIONAL DATABASES AS A LL ISON JUST DESCRIBED, WHAT IS THE FEELING IN THE COMMUNITY ABOUT DATA SHARING. THERE REALLY HAS BEEN A SHIFT I FEEL OVER THE PAST DECADE WORKING WITHIN THIS SPACE, AND I JUST WANTED TO POINT OUT A PAPER PUBLISHED THIS YEAR IN THE NEW ENGLAND JOURNAL OF MEDICINE BY SOME OF OUR COLLEAGUES AT STANFORD THAT REALLY LOOKED AT WHAT THE PARTICIPANTS ENROLLED IN VARIOUS COMMUNITY AND HOSPITAL BASED CLINICAL TRIALS ACROSS A VARIETY OF HEALTH CONDITIONS, WHAT WAS THEIR FEELING ABOUT SHARING INDIVIDUAL DATA. THEY FOUND 93% OF PARTICIPANTS ARE WILLING TO SHARE THEIR INDIVIDUAL LEVEL DATA OPENLY. 82% OF THOSE WOULD EVEN SHARE IT WITH COMMERCIAL INDUSTRIAL ENTITIES. SO THERE IS A FEELING IN THE COMMUNITY THAT THERE IS A BENEFIT, AND THERE ARE MANY BENEFITS TO DATA SHARING. I MAY BE PREACHING TO THE CHOIR BUT JUST TO NAME A FEW, PARTICULARLY WHEN WE'RE TALKING ABOUT RARE DISEASES THAT MAY HAVE SMALLER LIMITED NUMBER OF CASES, IT'S REALLY IMPORTANT TO BE ABLE TO INCREASE THE POWER AND THE STATISTICAL VALUE OF THAT DATA AND BE ABLE TO PULL MEANINGFUL INSIGHTS FROM THAT INFORMATION. AND THIS TERM I'M SURE YOU'VE HEARD IT USED BY OTHERS IN THE ROOM OF VIRAL DISCOVERY IS REALLY WHAT I FEEL IS THE GREATEST BENEFIT. SO WHILE ONE VERY SMART PERSON LOOKING AT DATA IS FANTASTIC, GETTING MANY PEOPLE TO LOOK AT THAT DATA IN DIFFERENT WAYS AND BEING ABLE TO USE IT FOR NEW PURPOSES IS REALLY INSPIRING AND WILL ALLOW US TO INNOVATE IN A WAY THAT CAN HELP US TO PREVENT, TREAT AND UNDERSTAND OUR VARIOUS DISEASES OF INTEREST BETTER. DO NOT WORRY, I DO NOT PLAN TO GO THROUGH EACH AND EVERY ONE OF THESE POLICIES. HOWEVER, I JUST WANTED TO SHOW YOU THAT THIS IS SORT OF A TIMELINE OF THE LAST 20 YEARS OF NIH POLICIES AND YOU CAN SEE THAT NIH CERTAINLY DOES ATTEMPT TO MAKE SURE THAT PUBLICLY FUNDED DATA IS SHARED IN WAYS THAT ALLOW FOR GREATER UTILITY AND USE BY THE PUBLIC, AND CERTAINLY YOU CAN SEE THAT RED LINE IN THE MIDDLE THERE IS SAYING THAT POLICIES THAT HAVE BEEN CREATED SINCE 2013 AT THE GOVERNMENT LEVEL ARE LARGELY IN RESPONSE TO A MEMO SENT OUT DURING THE OBAMA ADMINISTRATION REALLY PUSHING FEDERAL AGENCIES THAT ARE SPENDING MORE THAN $100 MILLION IN RESEARCH AND DEVELOPMENT TO MAKE THEIR PUBLISHED RESULTS AVAILABLE IN A VERY TIMELY MANNER AND ALSO TO BETTER MANAGE THEIR DIGITAL DATA THAT IS RESULTING FROM FEDERALLY FUNDED SCIENTIFIC RESEARCH. SO THE KEY POLICIES THAT WERE HIGHLIGHTED ON THE FIRST PAGE JUST AROUND DATA SHARING ARE THE NIH DATA SHARING POLICY AND THE PUBLIC ACCESS POLICY THAT HAVE BEEN IN PLACE SINCE 2003 AND 2008 RESPECTIVELY. REALLY THESE POLICIES JUST AT THEIR BASE LEVEL ARE SAYING IF YOU ARE PUBLISHING FEDERALLY FUNDED RESEARCH, YOU NEED TO MAKE THAT AVAILABLE IN A TIMELY MANNER AND WITHIN 12 MONTHS IN PUBMED CENTRAL. IF YOU HAVE FUNDING THAT YOU'RE REQUESTING IN THE AMOUNT OF $500,000 IN DIRECT COSTS PER YEAR, THEN YOU DO NEED TO HAVE A DATA MANAGEMENT AND SHARING PLAN THAT OUTLINES WHAT YOU PLAN TO DO WITH THAT DATA. AND THE CAVEAT AT THE BOTTOM IS THAT AS WAS MENTIONED, THOSE POLICIES HAVE BEEN IN PLACE SINCE BEFORE THAT 2013 MEMO. AS MANY OF YOU MAY BE AWARE LAST YEAR, THE OFFICE OF SCIENCE AND POLICY DID PUT OUT A REQUEST FOR INFORMATION FOR PROPOSED REVISIONS TO THE CURRENT NIH DATA SHARING POLICY AND THOSE COMMENTS ARE BEING USED FOR A FUTURE DRAFT POLICY THAT WILL BE RELEASED FOR COMMENT WHEN IT IS COMPLETED. AT AN NIH LEVEL, THERE ARE POLICIES AND EXPECTATIONS SET ACROSS THE BOARD BUT AS FEDERATED INSTITUTES, EACH ONE OF THE NIH INSTITUTIONS OFTEN HAS THEIR OWN POLICIES, SOMETIMES BY PROGRAM FOR IMPLEMENTATION IN WAYS THAT MAKE SENSE FOR THE RESEARCH THAT THEY ARE DOING. FOR NCI, THE PREDOMINANT POLICY WE HAVE IN PLACE FOR DATA SHARING RIGHT NOW IS REALLY THAT SURROUNDING THE MOONSHOT INITIATIVE AND FOR BACKGROUND, I THINK MANY OF YOU ARE PROBABLY AWARE BUT IN CASE YOU'RE NOT, FORMER PRESIDENT -- FORMER VICE PRESIDENT JOE BIDEN, AT THE END OF THE LAST ADMINISTRATION, REALLY PUT FORTH THIS CHARGE TO ACCELERATE PROGRESS IN CANCER RESEARCH AND CONVENED A BLUE RIBBON PANEL OF STAKEHOLDERS THAT SAID THE BEST WAYS TO DO THIS WAS REALLY GOING TO USE COLLABORATION AND COOPERATIVE EFFORTS TO WORK TOGETHER TO ACCELERATE THAT PROGRESS IN LARGE PART BY ENHANCING DATA SHARING, NOT ONLY THROUGH POLICY BUT ALSO THROUGH ENHANCING TECHNICAL CAPABILITIES AS ALLISON WAS JUST TALKING ABOUT. SO THE LONG AND SHORT OF THE MOONSHOT POLICY IS THAT IT ACCELERATES THOSE NIH POLICIES THAT I JUST DESCRIBED TO YOU PREVIOUSLY. SO WITH THE PUBLIC ACCESS POLICY THAT I HAD JUST MENTIONED, RESEARCHERS HAVE UP TO 12 MONTHS TO PUT THAT INFORMATION INTO PUBMED CENTRAL. FOR THE MOONSHOT, WE ACTUALLY HAVE TASKED OUR FUNDED INVESTIGATORS WITH MAKING PUBLIC RESULTS IMMEDIATELY AVAILABLE WITHOUT EMBARGO AND WITHOUT FEE FOR ACCESS, AND THEY HAVE FOUR WEEKS TO GET INFORMATION INTO PUBMED CENTRAL. FOR THOSE WHO ARE WONDERING, YES, THAT DOES POTENTIALLY LIMIT WHERE YOU CAN PUBLISH, SO THAT POLICY IS IN PLACE AND JOURNALS ARE WORKING WITH OUR INVESTIGATORS TO MAKE SURE THAT THAT CAN HAPPEN IN A MORE TIMELY FASHION AND INVESTIGATORS CAN ACTUALLY ASK FOR FUNDING TO ADDRESS ANY FEES FOR EMBARGO THAT WOULD BE ADDRESSED. ADDITIONALLY, WE ASK FOR, TO THE EXTENT POSSIBLE, IMMEDIATE AND BROAD ACCESS TO UNDERLYING PRIMARY DATA. AND DATA MANAGEMENT AND SHARING PLANS ARE A REQUIREMENT REGARDLESS OF FUNDING THRESHOLD FOR ALL MOONSHOT-FUNDED RESEARCH. AND THEN THOSE DATA MANAGEMENT AND SHARING PLANS FOR EVERYTHING THAT DOES GET FUNDED BECOMES A DELIVERABLE IN THE CONTRACT AND/OR A TERM OF AWARD. SO THAT SORT OF -- THE STICK APPROACH FOR THE MOONSHOT, THE CARROT BEING MORE OF THE TECHNOLOGY THAT I'LL GET TO IN A FEW MINUTES, BUT AS WITH ALL POLICIES, THE MOONSHOT IS, OF COURSE, IN ADDITION TO THE CLINICAL TRIALS THE GENOMIC DATA SHARING POLICY AND INTRAMURAL POLICIES THAT NIH AND HHS HAVE IN PLACE. SO COMMON CHALLENGES OF DATA SHARING. THERE ARE QUITE A FEW IN ADDITION TO POLICY. WE ARE PRODUCING DATA AT AN UNPRECEDENTED RATE, AND WE ARE DOING THAT IN SUCH A WAY THAT THEY ARE -- THAT IT'S OFTEN DONE BY SPECIFIC PROGRAMMERS, SPECIFIC FOCUS, AND THEN THAT DATA IS GETTING PUT INTO DISPARATE REPOSITORIES THAT DON'T NECESSARILY SHARE INFORMATION OR CONNECT WITH ONE ANOTHER, DIFFERENT TYPES OF DATA ARE BEING COLLECTED IN DIFFERENT FORMATS THAT MAY OR MAY NOT BE ABLE TO BE AGGREGATED TOGETHER. THERE ARE CERTAINLY PRIVACY PROTECTIONS THAT NEED TO BE IN PLACE, AND INFORMED CONSENT ISSUES THAT IS DONE DIFFERENTLY, OFTENTIMES FOR DIFFERENT STUDIES. AND OF COURSE THERE'S DIFFERENT CULTURES ORGANIZATIONALLY AND NORMS THAT NEED TO BE CONSIDERED WHEN DATA SHARING IS IN QUESTION. SO SOME SOLUTIONS THAT WE'VE COME UP WITH AT NCI SPECIFICALLY ARE LISTED HERE AND I WANT TO HIGHLIGHT, OF COURSE, THEY'RE NOT COMPLETELY COMPREHENSIVE, BUT TO GIVE YOU AN IDEA, THE BROAD CONSENT LANGUAGE AND UNIFORM CONSENTING PROCESS, WE HEARD THIS COME UP YESTERDAY, I'M SURE WE'LL CONTINUE TO HEAR IT COME UP, BUT IN ADDITION TO MOONSHOT RECOMMENDATIONS, WE HAVE A DATA SCIENCE WORKING GROUP FOR OUR NATIONAL CANCER ADVISORY BOARD, AND THEY HAVE PUT OUT A RECOMMENDATION THAT FOR NCI FUNDED RESEARCH, THAT WE SHOULD BE STRONGLY ENCOURAGING IF NOT REQUIRING BROAD CONSENT AND UNIFORM CONSENTING PROCESSES TO HELP ENABLE THAT AND ENHANCE THAT DATA SHARING. AS WELL, THE MOONSHOT RECOMMENDATIONS AS WELL AS OTHERS INCLUDE PROVIDING A SEARCHABLE INTERCONNECTED DATA REPOSITORY OR REPOSITORIES WITH ASSOCIATED TOOLS AND SERVICES SUCH AS ALLISON HAD DESCRIBED EARLIER AND NICOLE WILL SCRIBE VOCABULARY AND COLLECTING DATA IN SUCH A WAY THAT IT CAN BE FORMATTED WITH MORE STANDARDS. SO I STOLE THIS SLIDE FROM THE GLOBAL ALLIANCE FOR GENOMICS IN HEALTH, AND REALLY IT'S JUST REPRESENTING THE REASONS WHY BROAD CONSENTING IS SO IMPORTANT TO US SO OUR DATA ACCESS COMMITTEES, WHEN THEY PROVIDE ACCESS TO DATASETS, THEY DO IT BASED UPON CONSENTS, HENCE THE NEED FOR MORE BROAD CONSENTING. WHEN WE'RE LOOKING AT CO-MORBIDITIES OR POSSIBLE INTERACTIONS ACROSS DISEASE GROUPS, IF PATIENTS ARE CONSENTED SUCH THAT DOWNSTREAM DATA CAN ONLY BE ACCESSED FOR THAT DISEASE, THEN IT ACTUALLY CANNOT BE CROSSED. WE'VE RUN INTO THIS ISSUE WITH KIDS FIRST, AND SO UNFORTUNATELY, IF YOU'RE STUDYING GENOMICS AND YOU FIND AN INTERESTING VARIANT THAT MAY BE PRESENT IN A UVEAL MELANOMA AND ALSO IN A DIABETIC COHORT, OUR COMMITTEES WOULD NOT BE ABLE TO ALLOW YOU TO ACCESS THAT DATA TOGETHER. SO BROAD CONSENTING ALLOWS COHORTS OF VARIOUS TYPES TO ACTUALLY BE ANALYZED ALONGSIDE ONE ANOTHER FOR NEW DISCOVERY. ON THE TECHNICAL SIDE, I WAS MENTIONING A CARROT FROM THE MOONSHOT IS REALLY TO BUILD AN ECOSYSTEM. THIS IS WHAT NCI IS ENVISIONING FOR ITS ANSWER TO A SEARCHABLE INTERCONNECTED REPOSITORY THAT MEETS DATA NEEDS. THE NCI IS BUILDING THIS IN CONJUNCTION WITH THE LARGER CANCER RESEARCH COMMUNITY AND SO OUR PORTION OF THAT AS YOU CAN SEE, AND I'LL TALK ABOUT A LITTLE BIT, IS THE CANCER RESEARCH DATA COMMONS. THAT'S ONLY ONE COMPONENT OF THIS ECOSYSTEM. WE WANT TO HAVE AN INFRASTRUCTURE OF ENHANCED CLOUD COMPUTING PLATFORMS AND SERVICES THAT LINK THIS DISPARATE INFORMATION THAT I HAD MENTIONED BEFORE AND THE ABILITY TO CONNECT MULTIPLE TYPES OF INFORMATION FROM CLINICAL TO IMAGING TO MOLECULAR. WE ALSO WANT A SYSTEM AGAIN THAT ENCOURAGES AND ALLOWS FOR DEVELOPMENT OF TOOLS AND STANDARDS FOR BETTER INTEROPERABILITY AND THE ABILITY TO MAINTAIN DATA GOVERNMENTS AND SUSTAINABILITY FOR THE LONG TERM HEALTH OF SUCH A SYSTEM. I'M ACTUALLY GOING TO SKIP OVER THIS SLIDE BECAUSE I THINK THIS SHOWS IT BETTER. THIS IS WHAT NCI'S VIEW OF OUR PORTION OF THE ECOSYSTEM ENCOMPASSES AS A CANCER RESEARCH DATA COMMONS AND REALLY THIS IS JUST A VIRTUAL EXPANDABLE DATA SCIENCE INFRASTRUCTURE THAT WILL SUPPORT COLLABORATION AMONGST VARIOUS TYPES OF RESEARCHERS, COMPUTATIONAL SCIENCE AND TOOL DEVELOPERS. WE DO THIS THROUGH SOMETHING THAT WE CALL NODES. YOU CAN SEE THOSE COLORED STACKS REPRESENT EACH OF THESE NODES WHERE THERE ARE COMPONENTS THAT ARE ALREADY UP AND RUNNING AND SOME ARE BEING DEVELOPED, AND THEY ARE DOMAIN-SPECIFIC. CLOUD REPOSITORIES. THE GENOMICS, ALLISON HAD ALREADY MENTIONED, FOR THOSE FAMILIAR WITH LARGE CANCER PROJECTS LIKE THE TCGA, THERE ARE LOTS OF DATA ALREADY STORED THERE, THAT'S BEEN UP AND RUNNING FOR MANY YEARS BUT WE ALSO HAVE PROTEOMICS NODES COMING ONLINE AS WELL AS IMAGING CLINICAL TRIALS AND IMMUNOONCOLOGY AND INTEGRATED CANINE TRIALS DATA SO WE DO HAVE COMPARATIVE MODELS IN DOGS FOR CANCER AND WE WILL HAVE ALL OF THAT DATA AVAILABLE. BUT YOU CAN SEE THE NODES ARE CONNECTED BY A COMMON DATA ACCESS CONTROL AUTHENTICATION AND AUTHORIZATION MECHANISM TO SECURE THE DATA AS ALISON HAD MENTIONED AND WE NEED TO PROVIDE THE ABILITY FOR RESEARCHERS TO BE ABLE TO BRING THEIR OWN TOOLS INTO THAT SPACE TO BE ABLE TO HAVE TRUE INTEGRATIVE ANALYSIS. ALISON SAID I WAS GOING TO TALK ABOUT THE FRAMEWORK. I'M NOT SURE HOW MUCH I CAN DO THIS JUSTICE. SO I WILL JUST SAY THAT ALL OF OUR NODES INDIVIDUALLY ARE BUILT UPON A FRAMEWORK THAT IS A FRAMEWORK OF SERVICES THAT CAN PROVIDE SECURE ACCESS AND APPROACH TO METADATA VALIDATION, WHICH IS IMPORTANT, THE USER WORK SPACE, SHARED DATA MODEL AND DICTIONARIES AS WELL AS THE DOC STORE. THE CLOUD RESOURCES ARE HOW WE PROVIDE COMPUTE AND ANALYTICAL RESOURCES IN THE SPACE FOR USERS TO BRING THEIR OWN TOOLS. TO WORK ALONGSIDE THE DATA THAT'S WITHIN THE CRDC NODES AND ALLISON HAD ALREADY GONE THROUGH A DEMO, THE CAVATICA PLATFORM IS BUILT OFF OF OUR SEVEN BRIDGES PLATFORM OR AKIN TO IT SO IT WORKS IN MUCH THE SAME WAY. SO IF YOU HAVE ANY QUESTIONS ABOUT TIS, YOU CAN SEE ME AFTER I KNOW VALERIE IS LURKING SO I'VE GOT TO GET THROUGH THIS A LITTLE BIT FASTER. SO THIS IS OFTEN SEEN ON THE BACK END. IT CONTAINS MULTIPLE PIECES THAT NEED TO BE THERE WE FEEL TO OPERATE THE WAY THAT >> >> -- AND CONTAINS AND PROVIDES API AND PORTALS AND THE AUTHENTICATION AND AUTHORIZATION PIECE. >> THIS IS SOFTWARE AND OCULAR THIS TERM RECENTLY FOR THOSE WHO ARE FAMILIAR THIS IS MIDDLEWARE AND THIS IS SOMETHING THAT DOES RUN IN THE BACKGROUND AND WILL CONNECT THE PIECES OF DATA FOR EACH OF THE USERS TO CRARY AND GET INFORMATION THEY NEED AND PULL THAT INTO A SPACE WHERE THEY CAN WORK WITH ALL OF DATA TOGETHER AND TO BETTER. AND THIS WILL ALLOW USERS TO ORGANIZE THEIR DATA AND SORT OF PROVIDE A CONCIERGE SERVICE FOR SEMANTICS AND THE TOOLS NEEDED TO PROPERLY NOT ONLY GET THEIR DATA INTO THE SYSTEM BUT ALSO PULL MEANINGFUL DATA OUT OF THEIR SYSTEM IN A COORDINATED FASHION. I WON'T GO OVER THIS TOO MUCH THAT WE ARE IN FULL AGREEMENT THAT THERE IS A NEED FOR A UNIQUE PATIENT IDENTIFIER IN THE SYSTEM FOR MULTIPLE PURPOSES BUT THIS IS SOMETHING NCI IS WORKING ACTIVELY AND I WILL BE HAPPY TO TALK WITH ANYBODY MORE ABOUT THAT AFTERWARDS BUT SINCE I ONLY HAVE ANOTHER MINUTE I WANTED TO INTRODUCE AN IDEA, SOME OF YOU WERE PRESENT IN THE SUMMER FOR A SYMPOSIUM WE HELD THAT THE PRESIDENT IN THE STATE OF THE UNION PROPOSED 50 MILLION DOLLARS ANNUALLY FOR 10 YEARS TO GO TO CHILDHOOD CAME TO DATA INITIATIVE AND THAT WOULD BE SUPPORTING OUR APPROACH TO DATA SHARING AND OF THESE ARE OUR FORMING AREAS OF FOCUS THAT INCLUDE ANSWERING SCIENTIFIC QUESTIONS, MAKING SURE THE DATA IS DRIVING THE RESEARCH THAT WE ARE NEEDING TO DO TO PUT FORTH GOOD TREATMENTS AND UNDERSTANDING OF CANCER AS A DISEASE. CREATING DATA COHORTS, AGAIN WE HAVE ALREADY TOUCHED UPON INTERCONNECTED DATA STRUCTURE WHERE WE CAN TAKE DATA REPOSITORIES, THEY DON'T ALL HAVE TO BE IN ONCE IN THE SPACE BUT WE WANT TO MAKE SURE THEY CAN TALK WITH ONE ANOTHER AND WE CAN PROPERLY USE THE PEDIATRIC DATA THAT WE FUNDED AND TO THAT END THE DEVELOPMENT OF TOOLS TO EXTRACT THAT KNOWLEDGE BECAUSE IN THE CONNECTING TO DATABASES NOT GOING TO DO MUCH AND WE DO NOT KNOW HOW TO USE THE DATA. THIS IS JUST THE PRINCIPLES FOR CONNECTING UP THE DATA SETS AND THIS IS SOME OF THE DATA THAT WE WILL BE CONNECTING AND DOES NOT INCLUDE KIDS FIRST, INCLUDES DATA LINKED TO SOME OF THE AML COHORTS. AND I WILL END WITH SAYING THAT THERE ARE MANY POLICY AND PROCEDURAL OBSTACLES TO OVERCOME AS WELL WE ARE NOT TAKING THOSE LIKELY EVEN THOUGH I DO NOT TOUCH AND THEN TODAY WE ARE SEEKING AN APPROPRIATE BALANCE WHEN WE DEVELOP OUR POLICY PARTICULARLY AROUND THIS INCREASED ACCESS TO DATA THROUGH OUR TECHNICAL STRUCTURE TO MAKE SURE WE ARE PROPERLY MEETING THE PRIVACY NEEDS AND PROTECTING RESEARCH AND INTEGRITY AND WE ARE PROMOTING HEALTH ADVANCES BY SUPPORTING OUR INVESTIGATORS WHO ARE DOING NETWORK AND A LINE THEM TO BE ABLE TO DO IT BETTER. THAT'S IT. >> [APPLAUSE] >> JUST TO FOLLOW UP ON JAMIE AND ALLISON MENTIONING FOR THOSE OF YOU WHO DID NOT KNOW THERE ARE A FEW COHORTS THAT WILL BE SHARED THROUGH DATA AND RESEARCH PORTALS AND SOME OF THOSE PEOPLE NO ROOM WILL BE PROVIDING THOSE COHORTS IN OUR NEXT SPEAKER IS NICOLE VASILEVSKY, PH.D., RESEARCH ASSISTANT PROFESSOR AT OREGON HEALTH AND SCIENCE UNIVERSITY AND A LEAD BIOCURATOR. NICOLE'S EXPERIENCE WILL GUIDE US IN THINKING ABOUT HARMONIZING EXISTING DATA SETS WHICH WAS A BIG THING YESTERDAY AND USING STANDARDS FOR PROSPECTIVE DATA COLLECTION. >> >> DR. VASILEVSKY: HI. THANKS VALERIE FOR THAT ELECTION AND IF YOU WOULD LIKE TO FOLLOW ALONG MUST LIKE THERE IS A LINK I HAVE A LOT OF LINKS IN THE SLIDE SO IF YOU WANT TO FOLLOW ALONG AS I TALK YOU CAN GET THE SLIDES HERE AND ALL OF THAT INFORMATION. SO LIKE VALERIE SAID I'M GOING TO TALK TO YOU ABOUT DATA HARMONIZATION AND COMMON DATA ELEMENTS OF FIRST I'M GOING THROUGH SOME PROJECT FOR FIRST I'M GOING TO INTRODUCE YOU TO ANTOLOGIES AN TALK ABOUT SOME PROJECTS, AND TALK ABOUT COMMON DATA ELEMENTS. SO, WE PROBABLY ARE ALL FAMILIAR WITH THIS PROBLEM, THIS PROBLEM OF WHY WE NEED TO STANDARDIZE LANGUAGE SO IF YOU GO TO A TEXTBASED SEARCH AND SEARCH ON STRINGS, AND ACHIVE INFORMATION FROM TEXTBASED RESOURCES IT WON'T RECOGNIZE, BUT IF YOU SEARCH UNDER LARGE BONE OR BIG BONE, ALL OF THESE TERMS GIVE YOU THE SAME RESULTS BASED ON WHAT YOU ARE SEARCHING ON SO WE NEED TO USE SEMANTICS IN ORDER TO GIVE MEANING TO THE TYPES OF RESOURCES OR DATA THAT WE HAVE AND HOW THAT HELPS RETRIEVING INFORMATION. SO THIS IS ME -- IN -- FROM ONE OF MY COLLEAGUES AND IN THE CONTEXT OF BIOMEDICAL RESEARCH THERE'S A LOT OF DATA TEAM PRODUCED IN BASIC SCIENCE LIKE IN GENOMICS AND IN CLINICAL STUDIES AND CLINICAL RESEARCH AND PRACTICE THE TYPES OF DATA THAT ARE BEING GENERATED ARE DESCRIBED ARE DIFFERENTLY SO WE NEED TO FIND A WAY TO BRIDGE THE GAP IN THE WAY DATA IS DESCRIBED TO GET IT MORE INTEROPERABLE. IN MY GROUP WE WORK ON BRIDGING THIS GAP BETWEEN CLINICAL SIGNS BY USING SEMANTICS MORE INTEROPERABLE AND DISCOVERABLE AND MORE USABLE. SOME OF THE DISCUSSIONS REMIND ME OF THIS CARTOON, WE ARE USING DATA STANDARDS TO MAKE DATA MORE STRUCTURED AND INTEROPERABLE BUT WE RAN INTO THIS PROBLEM WHERE WE HAVE SO MANY STANDARDS AND WE NEED ONE STANDARD TO HARMONIZE THEM ALL AND THEN WE JUST HAVE ONE MORE STANDARD. BUT I'M STILL GOING TO TALK ABOUT SOME OF THE STANDARDS WE HAVE DEVELOPED AND PLEASE USE THEM AND IF YOU'RE NOT FAMILIAR WITH ONTOLOGIES, IT IS A SYSTEMATIC REPRESENTATION OF KNOWLEDGE THAT CAN BE USED TO REPRESENT INFORMATION IN A PARTICULAR DOMAIN, THAT IS BOTH HUMAN READABLE AND MACHINE READABLE AND IT CAN BE USED FOR INTEGRATING AT ANALYZING LARGE AMOUNTS OF DATA. SO WE HAVE SOME MAC/PC ISSUES HERE. KEY PIECES: ONE ONTOLOGIES REPRESENT CLASSES IMPOTENTLY DOMAIN. ALL OF THE CLASSES HAVE A PARTICULAR LABEL, THEY ARE ARRANGED IN A HIERARCHICAL CLASSIFICATION SO YOU HAVE A SUBSECTION CLASSIFICATION OF THE TERM LIKE IF YOU HAVE LIKE A PHENOTYPE OR CARDIO PHENOTYPE, IF YOU ARE ONTOLOGIES TO STRUCTURED DATA AS HUMAN SHOULD BE ABLE TO INTERPRET WHAT A FIRST TWO BUT ANOTHER FEATURE OF ONTOLOGY THAT DIFFERENTIATES THEM FROM TAXONOMY IS THAT THEY ARE MACHINE-READABLE, AND THEY HAVE LOGICAL DEFINITIONS AND UNIQUE IDENTIFIERS THAT ARE MACHINE-READABLE AND THE SEMANTICS TO FIND THE RELATIONSHIPS BETWEEN THE TERMS SO IN THIS FIGURE HERE YOU CAN SEE THE PRIOR RELATIONSHIP SEE YOU CAN FIND A FINGER IS PART OF THE HAND AND A FINGERNAIL AS PART OF THE SINGER SO YOU CAN DEFINE THE TERMS LOGICALLY THAT GIVE THEM WAYS FOR DATA QUERIES TO IDENTIFY THEM AND EXPRESSED IN COMPETITION A LANGUAGE LIKE RDFS THAT ALLOWS FOR COMPETITION OF OTHER DATA. SO I LIKE THESE FIGURES HERE ON THE RIGHT; THE FIRST ONE IS A VERY SIMPLE KIND OF DIAGRAM OF ONTOLOGY AND KNOWLEDGE GRAPH WHERE YOU HAVE A FEW CLASSES RELATED THEM TO EACH OTHER AND YOU CAN SEE IN THE BOTTOM HERE, ONTOLOGY CAN BE MADE AS GRANULAR OR IS BROUGHT OR AS COMPACT AS YOU WANT IT TO BE. SO IF YOU ARE UNFAMILIAR WITH ONTOLOGIES OR HAVE NEVER USE THEM -- YOU PROBABLY HAVE USED IN YOUR DAILY LIFE, AMAZON USES ONTOLOGIES TO HELP CATEGORIZE INFORMATION BECAUSE THEY HAVE CLASSIFIED ALL OF THIS DATA. GALAXY CAN BE A TV SHOW OR MOVIE OR SOUNDTRACK AND GOOGLE ALSO HAS HIS KNOWLEDGE. AS OF A FEW YEARS AGO IF YOU GOOGLE WHEN THIS EASTER OR AN ACTOR IT BRINGS UP THIS INFORMATION LIKE THE DATA AND TOP OF THE SCREEN WHAT IS LITTLE BOX ON THE SIDE AND THAT'S BECAUSE IT HAS THIS KNOWLEDGE IN THE BACKGROUND THAT RELATES THE DATA TO EACH OTHER AND IT IS PUT INTO THIS GRAPH AND IT IS ABLE TO REDUCE INFORMATION TO YOU WHICH IS PER THE QUICKLY WHICH I THINK IT'S AMAZING. BEYOND CONSUMER PRODUCTS WE ARE USING ONTOLOGIES IN HEALTHCARE AND I WILL GIVE YOU SOME EXAMPLES OF ONTOLOGIES RELEVANT TO OUR GROUP IN DOWN SYNDROME COHORTS, APPLYING BIOMEDICAL TECHNOLOGIES TO HELP WITH DIAGNOSES AND RARE DISEASES AND I WILL TALK TO YOU ABOUT COMMON DATA ELEMENTS. FOR FIRST I'M GOING TO TALK ABOUT THE -- DISEASE ONTOLOGY WHICH IS A COMPREHENSIVE DISEASE ONTOLOGY THAT IS MEANT TO COVER DISEASES ACROSS SPECIES NOT JUST HUMANS BUT ACROSS ALL KINDS OF ORGANISMS INCLUDING MODEL ORGANISMS. CURRENTLY THERE ARE A LOT OF DISEASE TERMINOLOGIES AND ONTOLOGIES THAT EXIST AND MAYBE YOU ARE FAMILIAR WITH SOME OF THESE LIKE OMEM AND -- AND NCI THESAURUS AND ALL OF THESE TERMINOLOGIES HAVE THE STRENGTH BUT FOR THE WORK THAT WE DO IN MODERN INITIATIVE WE WANT TO USE AN ONTOLOGY THAT COVERS A BROADER SPECTRUM OF DISEASES SO MY COLLEAGUE CHRIS MONDO CREATED THE MONDO DISEASE ONTOLOGY THAT MERGES THESE EXISTING DISEASE TECHNOLOGY IS INTO ONE SINGLE COHERENT RESOURCE. DEVELOPED A MODEL THAT MERGES ONTOLOGIES TOGETHER AND DECIDE THROUGH AN ALGORITHM IF CLASSES ARE EQUIVALENT AND IT IS COMPREHENSIVE AND COVERS COMMON AND RARE DISEASES. SO I'VE BEEN WORKING WITH HIM AND FOR DEVELOPING THE MONDO AND ITERATIVELY CREATING IT AND REFINING IT AND IT IS A WORK IN PROGRESS SO I WANT TO POINT OUT THAT THIS WOULD BE A GOOD RESOURCE FOR EVERYONE TO USE FOR THEIR ANNOTATIONS FOR ANNOTATING DISEASES RELATED TO DOWNS AND WE WANT EXPERT AND COMMUNITY FEEDBACK. THIS IS AN OPEN SOURCE PROJECT PUBLICLY AVAILABLE AND WE HAVE THE WEBSITE OF THE BOTTOM AND WE REALLY VALUE AND WELCOME EXPERT FEEDBACK. IF YOU FIND TERMS THAT ARE MISSING OR TERMS INCORRECTLY CLASSIFIED OR DEFINED WE ENCOURAGE YOU TO FEEDBACK BACK TO US AND WE WILL DO EVERYTHING WE CAN TO FIX IT. SO, CURRENTLY MONDO IS USED FOR DISEASE ANNOTATION FOR SEVERAL APPLICATIONS AND MONARCH IS A PRIMARY PARTNER AND ALSO USED BY KIDS FIRST. THIS LIGHT IS NOT DISPLAY PROPERLY BUT YOU CAN IMAGINE THAT THERE ARE MORE NODES; ANOTHER ONTOLOGY THAT WE WORK ON IS THE HUMAN PHENOTYPE ONTOLOGY WHICH CAN BE VERY VALUABLE FOR DESCRIBING ONTOLOGIES AND PHENOTYPES ENCOUNTER IN DOWN PATIENTS. THIS A CLASSIFICATION OF PHENOTYPIC ABNORMALITIES AND CONTAINS OVER 14,000 PHENOTYPE TERMS AND I'M SURE THERE'S A FAIR NUMBER OF PHENOTYPES USEFUL FOR DESCRIBING DOWNS AND WE ARE WORKING WITH AS PART OF THE KIDS FIRST PROJECT TO ENHANCE SOME OF THE GRAPHIC REPRESENTATIONS OF DOWNS PATIENTS. ANOTHER FEATURE THAT I WANT TO POINT OUT ABOUT THE HPO IS THAT IT IS BUILT TO BE INTEROPERABLE WITH OTHER ONTOLOGIES, PART OF THEIR MACHINE-READABLE COMPONENT THAT WE USED TO INTEGRATE OTHERONTOLOGIES TO DEFINE THE TERMS LOGICALLY AND DATA ANNOTATED TO HPO IS ALSO INTEROPERABLE WITH OTHER DATATYPES LIKE THE GYNETOLOGY WHICH IS WIDELY USED AND WE USE THAT TO INTEGRATE TO HPO. HPO IS WIDELY USED FOR CLINICAL PRACTICES AND FOR PATIENTS IN THE RARE DISEASE ROUND AND IN THE MONARCH INITIATIVE WE CREATE THESE PHENOTYPE VARIATIONS, AND WE DESCRIBE VARIOUS THOUSANDS OF DISEASES WITH THE PHENOTYPES PRESENTED IN THESE DISEASES AND I'M GOING TO WALK YOU THROUGH THE SLIDES AND THE MAIN TAKE AWAY IS THAT THE MORE SPECIFIC THE ANNOTATIONS OF THE PHENOTYPES, PHENOTYPING CAN HELP AND ENHANCE DIAGNOSE RARE DISEASE CASES AND HELP PREVENT POTENTIAL DISEASE BASED ON PHENOTYPIC ABNORMALITIES AND HE WILL LOOK AT THE TOP CRAFT THIS IS AN EXAMPLE HIERARCHY OF HPO TERMS. THE TERMS LABEL IN THE BRIGHTEST COLOR ARE MORE GENERAL AND AS YOU GO DOWN THE GRAPH THEY ARE MORE SPECIFIC SO HYPERTHYROIDISM IS A MORE SPECIFIC CROSS COMPARED TO AN ABNORMALITY OF THE ORBITAL REGION. SO THE MORE SPECIFIC YOU GET INTO THE GRAPH THE MORE SERIOUS THE DISEASES ASSOCIATED WHICH CAN HELP WITH DIAGNOSING RARE DISEASES AND ALSO CREATED AN HPO LAYPERSON TERMINOLOGY TO ASSIST WITH MAKING THE HPO MORE ACCESSIBLE TO PATIENT SO WE SYSTEMATICALLY WENT TO THE ENTIRETY OF THE HPO AND APPLIED LAYPERSON SYNONYMS AND THIS IS TO ENABLE PATIENTS IN REPORTING THEIR OWN PHENOTYPES USING A STRUCTURED VOCABULARY AND HE CAN HELP ENABLE BETTER DATA CAPTURE IN A MACHINE-READABLE AND HUMAN READABLE FORMAT AND THIS IS ON THE PUBLICLY AVAILABLE WEBSITE ACCESSIBLE TO ANYONE. AND LIKE WITH MONDO, WE ENCOURAGE THE COMMUNITY FEEDBACK ASKING FOR TERMS THAT DON'T EXIST AND YOU CAN GO TO THIS TRACKER ONLINE; YOU HAVE TO HAVE AN ACCOUNT WITH THEM BUT IT IS EASY TO USE AND YOU GO TO THIS LINK IT WILL TAKE YOU TO THE STATION IF YOU CLICK ON THE NEW ISSUE BUTTON IT WILL BRING IN A STRUCTURED FORMAT AND RECORD ANY MISSING TERMINOLOGY AND WE ARE ALL VERY OPEN AND WELCOME YOU TO GIVE US YOUR FEEDBACK. THAT IS ALL LIKE YOU HAVE TO SAY ABOUT THE ANTHOLOGIES AND I WANT TO TALK ABOUT COMMON DATA ELEMENTS. THIS IS ANOTHER STANDARDIZE WAY OF STRUCTURING DATA, AND THERE ARE STANDARDIZE KEY TERMS AND CONCEPTS AND THEY HAVE BEEN ESTABLISHED FOR USE IN CLINICAL RESEARCH STUDIES TO ENHANCE DATA QUALITY AND PROMOTE INTEROPERABILITY ACROSS DATA SETS AND DATA SITES; SOME EXAMPLES OF CDES -- COMMON DATA ELEMENTS -- I JUST PUT INTO FEW EXAMPLES LIKE PATIENT AGE, GENDER TYPE, MARITAL STATUS AND DIAGNOSIS AGE TYPE AND SOME KEY FEATURES IS THAT EACH ONE HAS A LABEL LIKE PATIENT AGE; THERE IS A TEXT DEFINITIONS ARE YOU UNDERSTAND WHAT IT IS INTENDED TO BE USED AND LIKE IN THE CASE OF PATIENT AGE, THE DEFINITION IS PATIENT AGE AND NUMBER OF YEARS AND THEY HAVE VALUE TYPES OF THESE ARE THE TYPES OF VALUES THAT CAN BE USED FOR EACH CDE. IN THE CASE OF PATIENT AGE SHOULD BE A NUMBER; IN THE CASE OF GENDER TYPE IT SHOULD BE TAKE FROM A VALUE LIST, RESTRICTS YOU TO USING ALWAYS SPECIFIED VALUES FOR EXAMPLE HERE IT IS FEMALE/MALE/UNKNOWN/NOT REPORTED, ETC. THERE ARE THOUSANDS OF CDES, AND AT THE BOTTOM OF THIS WEBSITE IS A LINK WITH A COMPREHENSIVE LIST OF CDES AND I WANT ALL THROUGH ALL THE WHOLE LIST BUT I WANT TO MENTION IF YOUR EXAMPLES LIKE AN NIH COMMENT ELEMENT RESEARCH PORTAL WHICH IS COLLECTION OF CDES AND REPOSITORIES OF TOOLS AND RESOURCES AND YESTERDAY THIS CAME UP THE NIH TOOLBOX -- AND THERE'S ALSO CDES FROM OUR FOCUS LIKE CDE REPOSITORIES. CDES ARE INTENDED TO BE USED WITH CASE REPORTS OR DATA COLLECTION FORMS AND IF YOU'RE FAMILIAR WITH DATA DICTIONARIES THIS IS A USEFUL TOOL TO USE AS WELL TO HELP DESCRIBE YOUR DATA AND 80 DATA DICTIONARY IS USUALLY IN THE FORM OF A SPREADSHEET THAT STORES METADATA MEANT TO DESCRIBE DATA USED IN A STUDY OR DATA SET SO IT CAN BE USED BY ANYONE AND BY YOU AND LETTER DATES THAT YOU CAN GO BACK AND UNDERSTAND WHAT THE MEANING OF THE DATA IS. AS DESCRIBED IN THE PREVIOUS SLIDE ONE OTHER FEATURE IN THIS EXAMPLE OF THE DATA DICTIONARY IS THAT THERE'S DEFINITIONS OF THE CODES AND PERMISSIBLE VALUABLES AND SOME OF THEM ARE SELF-EXPLANATORY LIKE FEMALE IS FEMALE. AS SPECIFIED IN THIS CASE THEY'RE INTENDING THAT TO BE USED FOR UNDIFFERENTIATED OR UNDETERMINED. ALSO SPECIFYING DATATYPES LIKE CHARACTER AND GUIDELINES ON HOW TO USE IT SO INCLUDING THIS WITH THE DATA SET IS IMPORTANT TO INCREASE YOUR UNDERSTANDABILITY OF YOUR DATA SET. WE TALKED ABOUT THIS IN OUR BREAKOUT YESTERDAY, ONE APPROACH IS BY GETTING LOTS OF EXPERT INPUT AND WHAT THE EXPERTS THINK IS THE MINIMAL DATA TO BE INCLUDED AND WE HAVE DONE SOME OF THESE APPROACHES AND DECK DEVELOPING OUR ONTOLOGY. IN ONE OF THE THINGS IS DEVELOPING COMPETENCY QUESTIONS IN THE FORM OF REQUIREMENTS GATHERING SO WHEN YOU ARE DEVELOPING A MINIMAL DATA SET WHICH IS AN MINIMAL AND ESSENTIAL PART OF THE DATA, ELEMENTS THAT YOU WANT TO INCLUDE FOR THE STUDY AND FOR DEVELOPING THE STANDARD -- ASKING USERS OR YOURSELF WHAT KIND OF QUERIES DO YOU WANT TO ASK THIS DATABASE AND WHAT DO YOU WANT TO GET FROM THIS DATA? IF YOU GATHER A BUNCH OF QUESTIONS AND YOU COME UP WITH QUESTIONS LIKE HOW MANY PATIENTS WITH DOWN SYNDROME DEVELOP CARDIAC CONDITIONS IN ADULTHOOD? YOU NEED TO MODEL THE PHENOTYPE DATA SO YOU USE THE HPO PHENOTYPE ONTOLOGY AND YOU NEED TO DEVELOP A SURVEY FOR COLLECTING INFORMATION. WHEN WE HAVE DONE THIS ONTOLOGY DEVELOPMENT IN PARTICULAR TRYING TO PULL OUT THE KEY ELEMENTS AND ATTRIBUTES AND MAPPING THOSE TWO CDES AND ONTOLOGIES TO SEE IF IT ALREADY EXISTS IN ANY KIND OF DATA COLLECTION YOU WILL FIND THAT THE CDES OR ONTOLOGIES COULD ALWAYS HAVE EVERYTHING YOU NEED RATHER THAN CREATING ANOTHER STANDARD TRYING TO PASS FOR NEW TERM FOR NEW ELEMENTS FROM EXISTING STANDARDS WE ITERATE TO EXPERT AND YOU CAN FINALIZE YOUR DATA SET. I WANT TO SUMMARIZE TODAY THAT WE TALKED ABOUT ONTOLOGIES FORMALIZED CLASSIFICATION OF KNOWLEDGE IN A DOMAIN USED TO MAKE DATA MORE INTEROPERABLE AND USABLE IN A MACHINE-READABLE AND HUMAN READABLE FORMAT AND WE TALKED ABOUT CDES DATA ELEMENTS COMMON ACROSS MULTIPLE SETS AND MAKING DATA MORE INTEROPERABLE AND BITE STRUCTURING DATA AND USING SEMANTICS YOU CAN MAKE DATA MORE STRUCTURED AND PERMITS INTEROPERABILITY AND REUSE. LESLIE I WANT TO POINT YOU TO SOME LINKS JUST FOR FYI -- IF YOU DON'T KNOW HOW TO LOOK UP ONTOLOGY TERMS AND YOU WONDER WHERE YOU CAN FIND IN THIS A NUMBER OF SOURCES AND IF YOU GOOGLE ONTOLOGY LOOKUP SERVICE THAT WILL TAKE YOU TO MY FAVORITE WEBSITE FOR LOOKING UP ONTOLOGY TERMS. THIS OTHER SOURCES AS WELL. THESE INCLUDE MAJOR BIOMEDICAL ONTOLOGY PSYCHE TALKED ABOUT AND ALSO THERE ARE TRACKERS FOR MONDO ONTOLOGIES AND ALSO INCLUDED ARE A COUPLE OF ADDITIONAL RESOURCES IN CASE YOU ARE INTERESTED IN LEARNING MORE ABOUT ONTOLOGIES AND CDES AND I WANT TO THANK MY COLLEAGUES AND MY GROUP OF PEOPLE AROUND THE WORLD AND MY NAME IS BELOW SO PLEASE CONTACT ME WITH ANY QUESTIONS. THANK YOU. >> [APPLAUE] >> OKAY. UNLESS SPEAKER OF THE SESSION IS MICHAEL RAFII, M.D., PH.D., AND UROLOGIST AND ASSOCIATE PROFESSOR OF CLINICAL NEUROLOGY AT THE KECK SCHOOL OF MEDICINE OF THE UNIVERSITY OF SOUTHERN CALIFORNIA AND ALSO HIS RESEARCH FOCUSES ON THE DESIGN AND CONDUCT OF MULTICENTER CLINICAL TRIALS FOR ALZHEIMER'S DISEASE AND TODAY HE WILL TELL US ABOUT HOW COVERT (CORRECTION) COHORT STUDIES CAN PAVE THE WAY FOR CLINICAL TRIALS. >> >> >> >> DR. RAFII: GOOD MORNING. I'D LIKE TO THINK THE ORGANIZES FOR INVITING ME TO SPEAK TODAY AND ALIKE TO SHARE SOME LESSONS LEARNED FROM AD TRIAL COHORTS THAT WE HAVE BEEN CONDUCTING AND DISCUSS HOW WE CAN DEVELOP LESSONS LEARNED IN DOWN SYNDROME. A LONGITUDINAL NATURAL STUDY IS NOT NECESSARILY A TRAUMATIC OVERT IN SOME EXAMPLES INCLUDE THE ALZHEIMER'S DISEASE NEUROIMAGING INITIATIVE OR ADNI, 15 YEAR STUDY, AND ADNI SET THE STAGE FOR THE A4 STUDY, IT IS IMPORTANT TO KNOW THAT PARTICIPANTS IN AR DID NOT COME FROM ADNI. ADNI INFORMED IS AN UNDERSTANDING THAT PRECLINICAL STAGE OF ALZHEIMER'S DISEASE AND INDIVIDUALS ASYMPTOMATIC BUT POSITIVE FOR AD BIOMARKERS AND ADNI TO FIND THE COGNITIVE BIOMARKER CUTOUTS. THE NIA FUNDING ABC-DS PROJECT WHICH IS THE LARGEST NATURAL HISTORY STUDY OF AD BIOMARKERS IS SETTING THE STAGE TO CONDUCT PREVENTION TRIALS AND DEFINING COLORS FOR CONDUCTING PREVENTION TRIALS IN DOWN SYNDROME. I ONE TO DEFINE THE TYPICAL POPULATION OR TRC PACK. THE COORDINATING CENTER IS THE ATRI, AND THE PURPOSE OF THE TRC PACK IS TO IDENTIFY INDIVIDUALS IN THE PRE-CLINICAL STAGE OF ALZHEIMER'S DISEASE AND IN AD THERE ARE THREE STAGES. THE ONE ON THE FAR RIGHT, ALZHEIMER'S DISEASE DEMENTIA IS THE ONE THAT COMES TO MIND WHEN YOU THINK OF ALZHEIMER DISEASE BUT IN FACT FROM STUDIES SUCH AS ADNI THERE ARE TWO OTHER STAGES IN THIS DISEASE, THE PRODROMO STAGE WHICH IS CALLED THE MILD COGNITIVE IMPAIRMENT, INDIVIDUALS HAVE A BUILDUP OF ADENOID PLAQUES IN THE BRAIN AND THEN THE INDIVIDUALS WHO HAVE NO MEMORY CRUMBS AT ALL BUT HAVE POSITIVITY FOR BIOMARKERS OF AD NAMELY AMYLOID POSITIVITY AND THE STAGE ON THE FAR LEFT IS THE ONE THAT WE BELIEVE WILL HAVE THE LATEST IMPACT IN DISEASE MODIFICATION AND EVEN THE PREVENTION OF THE DEMENTIA STAGE AND THIS WAS INFORMATION GLEANED FROM THE ADNI LONGITUDINAL STUDY. HOWEVER IDENTIFYING INDIVIDUALS FOR CLINICAL TRIALS IN THIS PRECLINICAL STAGE IS VERY DIFFICULT. THESE INDIVIDUALS AS I SAID ARE ASYMPTOMATIC SO THEY CANNOT SELF DEFINED THEMSELVES TO COME IN FOR A TRIAL. THEY NEED TO BE AND THEN DEFIED BY SITES AND BROUGHT IN AN SCREENED FOR THE STUDIES. SCREENINGS IN THE TYPICAL POPULATION FOR AN ALZHEIMER'S DISEASE PREVENTION TRIAL IS VERY CHALLENGING AND THIS FIGURE SHOWS YOU THE NUMBER OF INDIVIDUALS THAT NEED TO BE TOUCHED WITH END UP WITH 4500 PARTICIPANTS RANDOMIZED IN CLINICAL TRIALS FOR PREVENTION OF AD. THE FDA REQUIRES TWO PIVOTAL STUDIES AND THAT IS WHERE WE GET THE 4500 PARTICIPANTS FROM. YOU GET THE INDIVIDUALS FROM THE REGISTRIES IN THIS INDIVIDUALS, APPROXIMATELY 10% ARE INVOLVED IN SOME SORT OF REFERRAL, DEMOGRAPHICS ARE INTERESTED IN PARTICIPATING IN THE RESEARCH OF PROVIDING PERSONAL INFORMATION TO SITES. 27,000 INDIVIDUALS WOULDN'T THEN NEED TO BE SCREENED IN A CLINIC FOR A PREVENTION STUDY AND THEN ONLY 20% OF THEM WILL END UP IN THE SCREENING PHASE AND THE REASON FOR THAT IS THAT 80% OF THEM WILL SCREEN FAIL BECAUSE THEY ARE COGNITIVELY NORMAL AND HAVE NO BIOMARKER POSITIVITY. IT IS A HUGE SIPHON AND A MAJOR BOTTLENECK IN CONDUCTING STUDIES FOR ALZHEIMER'S DISEASE. SCREENING ONLY TAKES A LONG TIME BUT IT IS QUITE COMPLICATED. NOT ONLY IS IT BURDEN SOMEONE PARTICIPANTS BUT IT INVOLVES DISCLOSURE OF THEIR RISK FOR A FATAL NEURODEGENERATIVE DISEASE AND EXPENSES ENORMOUS. ONE AMYLOID PET SCAN IS ROUGHLY $7000 SO YOU CAN IMAGINE THAT THE NEGATIVE SCREENED RATE CAN CRIPPLE A CLINICAL TRIAL RECRUITMENT. SO TRC PAD WILL ESTABLISH 2000 INDIVIDUALS WITH PRECLINICAL OR PRODONAL AD ACROSS 50 SITES NORTH AMERICA. THIS COMES FROM THE ALZHEIMER'S PREVENTION TRIAL LAUNCHED IN 2017 AND WE HAVE 25,000 PARTICIPANTS AND IT INVOLVES A WEB-BASED CONSENT AND COGNITIVE ASSESSMENTS USING THE COG 3 BATTERY AND ALLOWS FOR A SOCIAL LOGIN AND IT IS MOBILE AND RECEIVES REFERRALS FROM ON REGISTRIES THAT CURRENTLY EXIST IN THE AD SPACE ROUGHLY 500,000 PARTICIPANTS AND REFERRED TO THE APT WEB STUDY AND THIS IS A SCREEN SHOT. INDIVIDUALS CAN GET INFORMATION ABOUT WHAT PRECLINICAL STUDIES ARE AND WHAT PREVENTION TRIALS ARE AVAILABLE IN SOME OF THE CRITERIA THAT IS OUT THERE BUT ALSO ALLOWS YOU TO LOGIN AND CONSENT TO PROVIDING SOME BASIC DEMOGRAPHIC INFORMATION ABOUT YOURSELF, YOUR MEDICATIONS AND THEN TO ACTUALLY TAKE PART IN COGNITIVE ASSESSMENTS. AGAIN, THESE ARE ALL HEALTHY INDIVIDUALS, NO MEMORY CONCERNS, MINIMAL MEMORY CONCERNS WILL HAVE ACCESS TO THE INTERNET. SO FAR WE HAVE 25,000 PEOPLE ENROLLED IN THE APT STUDY AND WE ARE NOW ROLLING THIS OUT IN JAPAN, AUSTRALIA AND EUROPE AND SINGAPORE AND WILL BE ABLE TO CONDUCT LOCAL STUDIES WHICH ARE REALLY NEEDED WHEN YOU NEED 7000 TOUCH POINTS IN GLOBAL CLINICAL TRIALS. SO TAKING THAT INFORMATION ABOUT HOW THE INTERNET CAN BE HARNESSED AND UTILIZED TO IDENTIFY INDIVIDUALS, HOW CAN THAT BE APPLIED INTO THE DOWN SYNDROME SPACE_ ? EVERYBODY WITH DOWN SYNDROME WE BELIEVE IS PRECLINICAL FOR ALZHEIMER'S DISEASE; THEY ARE AT A VERY HIGH RISK FOR DEVELOPING ALZHEIMER'S DISEASE DEMENTIA, IT WILL SHORTEN THE RECRUITMENT PERIOD FOR CLINICAL TRIALS. ONE NIA TRIAL TOOK TWO YEARS TO DEVELOP SO IS A HUGE BURDEN TO OVERCOME, HAVING A TRAIL READY COHORT WILL PROVIDE US WITH THE PATIENT LEVEL KNOWLEDGE OF THE RATE OF COGNITIVE DECLINE, RATE OF CHANGE IN THE AD BIOMARKERS AND THE NATURAL INCIDENCE OF AES AND SES IN ADULT INDIVIDUALS AND ALLOWS US TO DO A GENOTYPE ASSESSMENT FOR THE MANIFESTATION OF DEMENTIA. IT WOULD ALSO ALLOW US TO SCREEN OUT IN ELIGIBLE PARTICIPANTS OR THOSE PARTICIPANTS WHO MAY BE NONCOMPLIANT WITH THE INVESTIGATIONAL PRODUCT. IT WOULD ALLOW US TO ENSURE THAT THE PARTICIPANTS HAVE STABLE MEDICAL CONDITIONS AND HAVING RECRUIT PARTICIPANTS, ADULTS WITH DOWN SYNDROME INO CLINICAL TRIALS, THERE ARE MANY CASES OF UNDIAGNOSED HYPOTHYROIDISM AND AUTOIMMUNE DISEASES THAT NEED TO BE STABILIZED BEFORE AN INDIVIDUAL IS ABLE TO PARTICIPATING IN CLINICAL TRIAL. SO A DOWN SYNDROME TRY ALREADY COHORT WOULD PROVIDE A POOL OF DEEPLY PHENOTYPE PARTICIPANTS WHO ARE INTERESTED, MOTIVATED AND IMPORTANTLY ELIGIBLE TO RANDOMIZE INTO CLINICAL TRIALS FOR AD. SO, WE ARE PLANNING AND ACT DS COHORT; ESSENTIALLY WOULD LIKE TO ENROLL 150 WELL-CHARACTERIZED, MEDICALLY STABLE ADULTS WITH DOWN SYNDROME BETWEEN THE AGES OF 35-55. THAT AGE RANGE SEEMS TO BE THE INFLECTION POINT WHERE THE RISK FOR AD IS MANIFESTED. -- -- WE WOULD UTILIZE LONGITUDINAL DATA THAT WILL BE HARMONIZED TO THAT WHICH IS BEING COLLECTED IN THE ONGOING ABC DS STUDY WHICH IS OVER FOUR HUNDRED PARTICIPANTS WITH DOWN SYNDROME ENROLLED NOW. THIS COHORT WOULD ALLOW US TO INCORPORATE MEASURES ASSESSED IN THE ABC DS IN A TRIAL SETTING WHICH IS CRITICAL WHEN YOU ARE TRYING TO CONDUCT A RANDOMIZED STUDY UTILIZED BY OUR GROUP IN CONDUCTING ADNI AND THE AD 4 STUDY -- WHICH IS REQUIRED BY THE FDA FOR SUBMITTING DATA FOR EVALUATION. WILL HAVE CLINICAL, GENETIC BIOMARKERS AND ALL OF THIS WOULD ADHERE TO THE NIH DATA SHARING POLICIES IN FACT ADNI DATA HAS BEEN WIDELY SHARED FOR THE PAST 15 YEARS SINCE THE OUTSET, AND FOR NOW THE AD4 SCREENING DATE IS PUBLICLY AVAILABLE AS WELL FOR DOWNLOAD AN ANALYSIS AND WE HOPE TO LEVERAGE THE ACT TC UNITS. THIS FIGURE IS A DIAGRAM OF THE ACT DS, ALZHEIMER'S CLINICAL TRIAL CONSORTIUM, THE NIA FLACCID CLINICAL TRIAL FOR CONDUCTING CLINICAL TRIALS BOTH FOR CINEMATIC AND PREVENTION OF AD AND HOPEFULLY YOU CAN READ THE SLIDE BUT THE PIS INCLUDE -- AND RON PETERSON WITH LEADERSHIP FROM THE NIA AS WELL AND THERE ARE MULTIPLE UNITS WITHIN THIS INFRASTRUCTURE WHICH ALLOWS FOR SCALABILITY OF CONDUCTING MULTIPLE CLINICAL TRIALS IN THE US PUTTING BIOMARKERS, BIOSTATISTICS, MEDICAL SAFETY, OPERATIONS, PET, AND A RECRUIT IN CORE AND WE HAVE AN ETHICS CORE THAT HAS SHOWN INTEREST AND THERE IS AN INDEPENDENT DSMB AS WELL AS STEERING COMMITTEES AND THERE ARE 35 SITES IN THE ADCT. AND ANOTHER 50 SITES THAT ARE AFFILIATED. THE ACT DS NETWORK -- THIS IS A REAL NETWORK -- THESE PERFORMANCE IS INCLUDE ALL THE ABC DS SITES, -- IRVINE, NEW YORK STATE INSTITUTE FOR DEVELOPMENTAL -- AND ARE REALLY SETTING THE STAGE LIKE ADNI DID, FOR DETERMINING THE EARLY BIOMARKERS IN ADULT ALZHEIMER'S SYNDROME. THEY HAVE CLINICS THAT THE ADULTS WITH DOWN SYNDROME AND THOSE ARE LISTED BELOW AND AT THE BOTTOM ARE TWO EUROPEAN SITES AND YOU'VE HEARD PRESENTATIONS FROM ANDRE AND JUAN ON THE COHORTS THEY HAVE DEVELOPED IN EUROPE AND WE HAVE ALREADY DISCUSSED HARMONIZATION OF DATA THAT WILL BE COLLECTED AND THE TRIAL READY COHORT BEING PROPOSED IN THIS PROJECT. THE PROJECT IS REALLY SURROUNDING THE IDEA OF BUILDING THIS COHORT AND IN THE CYCLE IT WOULD BE A SMALL COHORT OF 150 PARTICIPANTS WHO WOULD HAVE THE ASSESSMENTS, IMAGING, SAFETY LABS AND BIOMARKERS THAT ARE CRITICAL FOR GETTING IMPORTANT BASELINE DATA AND THEY WOULD BE FOLLOWED OVER THE TWO-YEAR PERIOD THAT WE ARE PLANNING FOR THIS INITIAL PHASE AND THEN THEY WILL BE RANDOMIZED INTO A LIKELY PHASE II TRIAL OF THE ANTI AMLOYD STUDY. AND THIS IS SORT OF A BIG PICTURE OF HOW THE ACTC - DS TRIAL READY COHORT FITS IN WITH WHAT HAS BEEN DISCUSSED, AND WHICH SITES NEAR THEM ARE RECRUITING AND PARTICIPANTS FORM ABC DS WILL BE ABLE TO LEARN ABOUT THE TRIAL READY COHORT AND THEY MAY BE INTERESTED IN JOINING A TRIAL READY COHORT OR JOINING DIRECTLY INTO CLINICAL TRIALS WHEN IT IS AVAILABLE. AGAIN THE LESSON WE LEARN FROM ADNI, 200 INDIVIDUALS THAT ARE NORMAL CONTROLLED, 400 INDIVIDUALS WITH MILD COGNITIVE IMPAIRMENT AND ANOTHER 200 WITH AD DEMENTIA, WE DID NOT FIND ANY PARTICIPANTS LEAVING THE ADNI STUDY AND GOING INTO THE A4 STUDY OR ANY OTHER PREVENTION TRIAL AND THAT IS IMPORTANT TO KEEP IN MIND WHEN WE ARE BUILDING THIS TRY ALREADY COHORT, NOT TO STEAL FROM ONE POPULATION TO BRING TO ANOTHER REVELATION AND THE AIM IS TO HAVE THIS AS A PLATFORM SO WE CAN CONDUCT MULTIPLE CLINICAL TRIALS UTILIZING PARTICIPANTS FROM THIS TRIAL READY COHORT INTO MULTIPLE STUDIES THAT MAY HAVE ADAPTIVE DESIGNS. SO, IN CONCLUSION NEW TREATMENTS FOR AD AND DS ARE URGENTLY NEEDED. WE NEED TO HAVE EFFICIENT RECRUITMENT INTO TRIALS, EFFICIENT CONDUCT AND EVENTUALLY AND HOPEFULLY WE WILL HAVE LARGE NUMBERS OF PARTICIPANTS NEEDED FOR PIVOTAL STUDIES OF AD AND DOWN SYNDROME. IS BELIEVE THE EXPERIENCE FROM THE APT WITH STUDY AND THE CURRENT EXPERIENCE WITH THE DS CONNECT WILL HELP A DESIGN A WAY TO RECRUIT PARTICIPANTS USING THE INTERNET INTO A TRIAL READY COHORT. THE ABC DS SITES WILL PROVIDE UNPARALLELED EXPERTISE IN CONDUCTING RANDOM IS CLINICAL TRIALS IN THIS POPULATION WITH A BACKUP OF THE ACTC PROVIDING THE MASSIVE INFRASTRUCTURE NEEDED TO PROVIDE THE MULTIPLE CLINICAL STUDY TRIALS AND IN CONCLUSION ACT DS THIS BEGINNING COHORT WILL PROVIDE A STABLE PLATFORM TO CONDUCT MULTIPLE NECESSARY CLINICAL TRIALS FOR AD IN THIS POPULATION. THANK YOU. >> [APPLAUSE] >> >> >> THANK YOU TO ALL OF OUR SPEKERS THIS MORNING. WE HAVE ABOUT 10 MINUTES BUILT INTO THE SCHEDULE FOR OPEN DISCUSSION. I GUESS OUR SPEAKERS SHOULD STAND BY TO ANSWER ANY QUESTIONS. DOES ANYBODY HAVE ANY COMMENTS OR QUESTIONS TO GET US STARTED? >> HAVE A QUESTION FOR MIKE. FOR THE TRIAL READY COHORT HOW OFTEN ARE YOU GOING TO BE SCREENING PARTICIPANTS AFTER THEIR BASELINE? AS IT'S A PROGRESSIVE DISEASE. >> DR. RAFII: THERE WILL BE THIS IS EVERY SIX MONTHS BUT THE VISITS WILL HAVE DIFFERENT PROCEDURES, SOME WILL BE QUITE LIGHT AND OTHERS WILL BE MORE INVOLVED BUT THE FIRST VISIT AND ANNUAL VISIT ARE MORE INVOLVED. >> WOMAN: ALSO A QUESTION FOR DR. RAFII. YOU MENTIONED THAT YOUR EXPERIENCE WITH THE ADNI PROJECT AND A4, THERE WAS NOT A DUPLICATION OF EFFORT, A4 WAS NOT SPEAKING FAMILIES OF PATIENTS AWAY FROM THE ADNI STUDY. GIVEN THAT WE'RE DEALING WITH A SMALLER NUMBER OF INDIVIDUALS IN THE DOWN SYNDROME COMMUNITY WHO ARE AT RISK FOR DEVELOPING DEMENTIA IF THERE IS ANY CONCERN ABOUT INDIVIDUALS WHO MAY BE A PART OF THE ABC DS STUDY WHO WANT TO BE PART OF THE TRIAL READY COHORT YOU HAD LITTLE BIDIRECTIONAL ARROWS IN YOUR FINAL DIAGRAM BUT I WAS WONDERING IF THERE WOULD BE PARTICULAR BARRIERS TO PEOPLE WHO MIGHT WANT TO GO FROM ONE STUDY TO THE NEXT. AND THEN HONESTLY THAT WOULD IMPACT THE ABILITY OF THE ABC DS COHORT TO COMPLETE ITS WORK SO SOME ADDITIONAL THOUGHTS ABOUT HOW TO ENSURE THAT THE TWO PROJECTS ARE COMPLEMENTARY WITHOUT NECESSARILY STEALING PATIENTS FROM EACH OTHER. >> DR. RAFII: GREAT QUESTION. THERE WILL BE INDIVIDUALS IN ABC DS INTERESTED IN CLINICAL TRIALS AND I'M CERTAIN THAT NO PI OR CLINICAL SITE WILL PREVENT PARTICIPANTS FOR SCREENING FOR CLINICAL TRIAL. ONCE THEY ARE IN A CLINICAL TRIAL THERE NEEDS TO BE A DISCUSSION ABOUT THE IMPACT OF THEM REJOINING ABC DS OR OTHER FUTURE TRIAL DEPENDING ON WHAT TRIAL THEY WERE ENROLLED WITH. THERE MAY BE PEOPLE ENROLLED IN ABCTS THE TRIAL READY COHORT WOULD RATHER BE IN A LONGITUDINAL STUDY AND AGAIN THAT WOULD BE A BIDIRECTIONAL MOVEMENT. I THINK THAT THERE WILL BE THE RARE INDIVIDUAL THAT WILL WANT TO LEAVE ABC DS AND GO INTO A TRIAL READY COHORT AND GET INTO A TRIAL LISTEN AS POSSIBLE AND THAT IS THE RIGHT. BUT I THINK IT ALWAYS HAS TO BE AN INFORMED DECISION WITH A DISCUSSION BETWEEN THE SITE PI AND THE PARTICIPANTS AND THEIR FAMILIES WISHES ABOUT WHICH DIRECTION THEY WANT TO TAKE BUT I BELIEVE THERE ARE 20 OF (CORRECTION) PLENTY OF THESE PARTICIPANTS TO SUPPORT BOTH PROJECTS. >> NICOLE, IF YOU CAN GIVE US THE SENSE OF HOW BROADLY ADOPTED THE DISEASE HAS BEEN ADOPTED; WHAT ARE THE LARGE BIG DATA COHORTS THAT HAVE ADOPTED HPO AS A WAY OF CALLING THE CONDITIONS AND THE PHENOTYPES? >> DR. VASILEVSKY: IT IS USED BY THE MONARCH INITIATIVE AND WIDELY USED BY OTHER CLINICIANS AND CLINICAL GROUPS; I KNOW IT'S BEEN ADOPTED BY KIDS FIRST. I'M LOOKING AT THEIR WEBSITE; I KNOW IT'S BEEN USED A LOT IN CLINICAL CONTEXTS, FOR USING RARE DISEASES AND CLINICAL PHENOTYPING AND OFF THE TOP OF MY HEAD I CAN'T SPEAK, BUT IT SHOULD BE IN THE WEBSITE. >> GOING TO INVITE YOU FOR SOME SELF-PROMOTION, IS IS THE MOST WIDELY ADOPTED PHENOTYPE? WHAT IS THE COMPETITOR? WHAT ARE OTHER SEMANTICS THAT WE SHOULD BE THINKING ABOUT? >> DR. VASILEVSKY: IN THE CONTEXT OF WHERE DISEASES IT IS THE MOST WIDELY ADOPTED BUT COMPETITORS WOULD BE SNOW MED OR OTHER CLINICAL TERMINOLOGIES BUT SNOW MED IS A CLOSED TERMINOLOGY, FREELY OPEN AND IN SOME WAYS IT HAS THAT ADVANTAGE OVER IT BUT IT IS NOT USED IN HER AS SNOW MED. >> -- UNDIAGNOSED DISEASE NETWORK -- -- USE HPL, AND THERE'S OTHER ONTOLOGIES -- LIKE NICOLE SAID, A LOT OF WHAT WE DO IN HER IS SNOW MED -- SO YOU HAVE A DIFFERENT LAB PHENOTYPES. I THINK ESPECIALLY -- >> SO WE RUN THE MBS HERE AND WE WORK WITH SEVERAL GROUPS THAT DO LONGITUDINAL FOLLOW-UP OF RARE DISEASES AND THERE'S A DEBATE ABOUT HPO VS. QUANTITATIVE DATA. IN HPO YOU SAY -- SHORT STATURE AND SOMETIMES WE HAVE TO KNOW HOW TALL OR SHORT AND SO WE DO BOTH HPO PHENOTYPES AND TRY TO DO THE INTEROPERABILITY THAT ALLISON TALKED ABOUT EARLIER. WHEN WE'RE TRYING TO FIGURE OUT A DISEASE WE NEED TO QUANTITATIVE DATA SO WE ARE NOT ALWAYS ABLE TO PUT IT INTO THOSE CATEGORIES OF HPO BUT WE CAN MAP TO HPO. >> SO RELATED TO THAT IF I UNDERSTOOD CORRECTLY FROM NICOLE'S PRESENTATION IF THERE ARE 10 COHORTS IN THE ROOM, THERE IS A PIECE OF SOFTWARE THAT CAN GRAB OUR DATA DICTIONARY AND TURN IT INTO HPO? WITH SOME OPERATOR -- IS THERE SUCH A THING? >> TAKES AT LEAST TWO DOUBLE CLICKS. CLINICAL DATA IS THE BANE OF OUR EXISTENCE AS IT RELATES TO INTERSECTION; CERTAINLY IN KIDS FIRST WE ARE NOT IN A POSITION TO SAY HPO IS THE ONE. WE USE MULTIPLE ONTOLOGIES. THE IMPORTANCE OF HPO IS ARRIVING PART OF THE MONARCH INITIATIVE; THEY HAVE DONE AMAZING WORK OF INTEGRATING HPO WITH MODEL ORGANISMS AND DATA; LOOKING AT DATA AND PHENOTYPES, IF YOU INTEGRATE ACROSS MODEL ORGANISMS, HUMAN DATA GENOMICS ACROSS AND OLOGIES HOPEFULLY YOU SHOULD MAKE SOME HEADWAY BUT THE COMMUNITY AT THIS POINT IN TIME, NO ONE ENTITY FROM OUR PERSPECTIVE CAN SAY THIS IS THE DEFINITIVE CONTEXT AND IN MANY RESPECTS WE FIND THAT THE MAIN STAKEHOLDER, YOU GUYS HERE, HAVE TO DEFINE WHAT IS YOUR BASIS AND ONTOLOGICAL CONTEXT IT SERVES YOU BEST AND CAN SUPPORT YOUR INTEGRATION WITH THE REST OF THE COMMUNITY AND THAT IS PART OF THE THING WE WORK WITH ON AN INDIVIDUAL BASIS THE MAIN STAKEHOLDERS TO WORK THROUGH. >> I HAVE A QUESTION FOR DR. RAFII. YOU SAID YOU WERE EXPANDING INTO EUROPE FOR YOUR TRIAL READY COHORT HOW ARE YOU NAVIGATING THE NEW EU PRIVACY REGULATIONS? >> DR. RAFII: WE WHICH STUCK TO THE REGULATORY FOLKS AT THE UNIVERSITY OF CAMBRIDGE WERE PART OF ABC DS WHO HAVE HAD TO OVERCOME THE SAME ISSUE WITH DATA SHARING ON THEIR SITE AS PART OF ABC DS. I DON'T SEE THIS AS AN ISSUE AS LONG AS YOU DEMONSTRATE THAT THE SECURITY OF YOUR SYSTEM ADHERES TO THE POLICIES OF THE EU. >> WHO OWNS THE DATA? WHEN YOU HAVE A PARTICIPANT WHO IS OUTSIDE THE US? >> DR. RAFII: THE EUROPEAN SITE OWNS THE DATA; THE DATA IS BEING SHARED IN THE DATA CAPTURE SYSTEM OF THE CORE DATING CENTER WHICH IN THIS CASE HAPPENS TO BE IN THE UNITED STATES; THERE HAVE BEEN CASES IN I BELIEVE THE ABC DS MAYBE AN EXAMPLE WHERE THE SERVERS HOUSING THE INFORMATION ARE IN EUROPE BUT ARE DOING AN OVERNIGHT DATA HANDSHAKE WITH US SERVERS THAT ARE THAN COLLECTING THE DATA. >> THAT BRINGS IS ALMOST A TIME AND I THINK JOAQUIN YOUR QUESTION ABOUT ONTOLOGY IS AND WHAT SHOULD BE USED IN THIS CONSTANT DISCUSSION ABOUT WHICH DATA ELEMENTS ARE COMMON ALONG THIS COMMUNITY WILL PERFECTLY LEAD US INTO THE DIFFERENT SESSIONS THIS AFTERNOON AND I NO THAT WHEN MELISSA MADE ONE DRAFT TO THE AGENDA THERE WERE FOUR TITLES. WE REALIZE IT PENETRATES EVERYTHING SO THE MONTHLY COME BACK FROM YOUR BREAKOUTS WITH THAT IN MIND. DO WE WANT TO GO TO BREAK OR DO WE WANT TO DO LARRY TO DO THE INTRO NOW? >> I GUESS WE COULD DO IT EITHER WAY. IT IS A LITTLE DISRUPTIVE TO HAVE A BREAK, HAVE PEOPLE COME BACK AND THEN GOING TO BREAK OUT SESSIONS. LARRY, ARE YOU FLEXIBLE ENOUGH TO GIVE US A CHART AND HOPEFULLY PEOPLE WILL BE ABLE TO RETAIN THE INFORMATION HE IS ABOUT TO GIVE US? LONG ENOUGH TO MAKE IT THROUGH THE BREAK. >> >> >> >> GIVE US ONE MINUTE. >> SO FIRST OF ALL, I'M LARRY -- FROM THE GENOME INSTITUTE AT NIH AND UNINVOLVED IN THIS UNIT COMMITTEE AND I'M REALLY PLEASED BECAUSE I THOUGHT I WAS GOING TO HAVE TO GET UP HERE AND SAY YOU GUYS REALLY NEED TO WORK TOGETHER AND FROM WHAT I'VE BEEN HEARING YESTERDAY AND TODAY AND FROM WHAT HAPPENS IN THE BREAKOUT SESSIONS I DON'T THINK I HAVE TO CONVINCE ANYONE TO WORK TOGETHER, AND THAT'S A GOOD THING. IF WEE DON'T HAVE THE SLIDES IT'S NOT A BIG DEAL. SO THE NEXT BREAKOUT SESSION -- I'M GOING TO SHOW YOU MY SLIDES JUST BECAUSE, IT'S DESIGNED TO START GETTING INTO THE NITTY-GRITTY AND IT IS TITLED DATA INTEGRATION AND HARMONIZATION. DATA IS EVERYTHING, NOT JUST ONES AND ZEROS; WE ARE TALKING ABOUT LOTS OF INFORMATION AND THIS IS WHAT I THOUGHT WE WERE HAVING IN AN WOULD HAVE TO HARANGUE EVERYBODY NOT TO BE AN ARCHIPELAGO, SOME ISLANDS ARE BIG AND SOME SMALL AND IS ALWAYS WORRIES, FROM SOME FANTASY GAME THAT THE BIG ITEMS WOULD RULE THE ROOST AND I'M NOT HEARING THAT AT ALL AND YOU HAVE TO ADMIT THAT MOST OF YOU ARE RIGHT NOW LIVING IN A DOWN SYNDROME ISLAND AND TO SOME DEGREE BECAUSE YOU HAVE DIFFERENT SPECIALTIES AND DATA SETS AND DIFFERENT PURPOSES BUT THERE SEEMS TO BE UNIFICATION THAT THIS IS WHAT WE WANT TO HEAD TOWARD. HE'S GOING TO NOD WHETHER THIS IS VIRTUAL OR AN ACTUAL NETWORK. THE OTHER ASPECT IS SHARING; I COME FROM AN INSTITUTE WHERE WE GOT OUR INVESTIGATORS TO PUT THE RAW DATA OUT TO THE PUBLIC EVERY NIGHT AS THEY GENERATE IT; THEY DID NOT EVEN HAVE TIME TO LOOK AT THE WRONG DATA AND NOW NO ONE IS SUGGESTING THAT FOR THIS CONSORTIUM OR COHORT GOING FORWARD BECAUSE THIS IS HUMANS, NOT REFERENCE PEOPLE BUT WE SHOULD BE THINKING ABOUT HOW TO SHARE NOT JUST AMONGST THE NETWORK BUT FOR PEOPLE WHO AREN'T IN THESE NETWORKS, ONE OF THE MOST IMPORTANT PIECES OF THE PIE IS THIS ONE, NO ONE HAS A HAND ON THAT. THAT PIECE REPRESENTS THE INVESTIGATORS WERE NOT IN THE ROOM WHO COULD POTENTIALLY USE THIS DATA GOING FORWARD. THAT SAID, HAS DIFFERENT LEVELS OF SHARING AND I WANT TO REMIND PEOPLE THERE'S OPEN ACCESS WHICH MEANS THERE ARE NO RESTRICTIONS AND YOU CAN COME IN AND USE THE DATA AND BE THINKING ABOUT WHAT CAN GO INTO OPEN ACCESS, THE MORE THE BETTER AND THERE'S LOTS OF REASONS WHY EVERYTHING CAN'T GO INTO OPEN ACCESS; THE NEXT LEVEL IS CONTROLLED OPEN ACCESS AND THEN THERE IS ACCESS WERE YOU HAVE TO BE A COLLABORATOR AND I'D LIKE NOT TO SEE YOU HAVE TO BE A COLLABORATOR AS OPPOSED TO JUST BE CERTIFIED TO HAVE ACCESS. THERE ARE VARIOUS TO DATA SHARING AND THIS IS WHAT I WANT YOU TO THINK ABOUT GOING INTO THE WORKSHOPS; CONSENT AND RIB ISSUES CANNOT BE IGNORED, AND THERE IS AN OPPORTUNITY AS YOU GO PROSPECTIVELY TO MAKE SURE DATA SHARING IS TALKED ABOUT AND THIS NETWORK IS TALKED ABOUT WITH THE STUDY PARTICIPANTS AND THEIR FAMILIES. DATA HETEROGENEITY IS A NIGHTMARE FOR PEOPLE WHO DO IT FOR A LIVING; I'M LOOKING AT A FEW OF THE PEOPLE DOWN THERE WHO DO THIS FOR A LIVING AND TO LET YOU KNOW IS PROBABLY SOLVABLE BUT IT WILL TAKE TIME AND ENERGY AND COMMUNICATION TO GET DATA SO IT IS HARMONIZE. DATA SILOS WILL BE A PROBLEM IF WE CREATE A BUNCH THAT CAN'T TALK TO OTHERS. INTELLECTUAL PROPERLY IS SOMETIMES A PROBLEM BUT I DON'T SEE IT BEING AN ISSUE POTENTIALLY WITH ANYTHING GOING ON IN THE INCLUDE PROGRAM. EXPERTISE IS A PROBLEM SEE HAVE TO HAVE PEOPLE HAVING THE DATA AND THERE ARE STRUCTURAL THINGS, EGO AND THE BIG INSTITUTION AND WHEN YOU ARE DOING A BIG COLLABORATIVE PROJECT CREDIT HAS TO BE SHARED AND YOU HAVE TO THINK ABOUT THAT FROM DAY ONE NOT WHEN SOMEONE HAS REALLY COOL RESULTS. THERE IS AN ISSUE FOR YOUNG INVESTIGATORS THAT YOU NEED TO BE THINKING ABOUT, PROMOTION AND TENURE PROCESS IS STILL REALLY FAR BEHIND THE REST OF THE WORLD. AND PEOPLE WHO ARE IN THE EARLY STAGES OF THEIR CAREER ARE CAUTIONED NOT TO GET INVOLVED IN BIG PROJECTS. AND THE LAST OBSTACLE IS MONEY AND BELIEVE IT OR NOT THAT IS WHAT THE NIH IS FOR, TO PROVIDE FUNDS FOR MERITORIOUS EFFORTS TO MOVE THE FIELD FORWARD TO I WOULD LIKE TO THINK ABOUT ALL OF THESE AS YOU GOING TO DIFFERENT BREAKOUTS, THERE ARE DIFFERENT TEARS BUT THEY ALL HAVE TO BE INTEGRATED AND NOW WE WILL BE GOING INTO A BREAK FOR 30 MINUTES? >> WE HAVE A NICE LENGTHY BREAK AND THAT IS A CHANCE FOR EVERYBODY TO GRAB A BEVERAGE OR SOME NOURISHMENT FROM THE NOURISHMENT HUB AND WE'D LIKE FOR THE BREAKOUT SESSIONS TO RECONVENE AT 11:20, HALF AN HOUR FROM NOW, A LITTLE MORE. AND YOU CAN SEE THE AGENDA AS WELL AS A SEPARATE BREAKOUT SESSIONS, A LISTING OF WHICH BREAKOUT SESSION YOUR ASSIGNED TO, EFGH, I DO ALSO WANT TO MAKE AN ASSESSMENT THAT WE WILL HAVE A DS CONNECT AND BREAKOUT ROOM 0120, AND THEY WILL DO THAT RIGHT NOW THE NEXT 20-25 MINUTES. SO GRAB A DRINK AND GO DOWN TO THAT SESSION TO HAVE A DS CONNECT. IF YOU ARE NOT INTERESTED YOU CAN DO WHAT EVERYONE FOR THE NEXT HALF HOUR UNTIL WE CONVENE FOR THE NEXT BREAKOUT SESSIONS AND WE COULD NOT FIGURE OUT A WAY TO DO IT SO WE HAD A NICE EVEN LUNCH BREAK WITHIN THAT. TO FIGURE OUT A TIME WITHIN YOUR MEMBERSHIP OF YOUR BREAK A GROUP WHEN YOU WANT TO HAVE LUNCH AND TAKE A HALF AN HOUR, 45 MINUTE BREAK FOR LUNCH AND THEN YOU CAN FINISH YOUR BREAK AT WORK. AT WHAT TIME DOES THE CAFETERIA CLOSED FOR LUNCH? LUTZ GOES (CORRECTION) LUNCH GOES UNTIL -- >> SAYS 1:15. >> RIGHT, BUT WE JUST ARBITRARILY PUT THAT ON THE SCHEDULE. UNTIL 2. SO YOU HAVE TO GET YOUR LUNCH BREAK SOMETIME BETWEEN 11 AND 2. AND KEEP IN MIND THAT WE WILL RECONVENE HERE IN THIS ROOM AT 2:15, AND WE WILL HAVE REPORTS BACK FROM EACH OF THE WORKING GROUPS. ARE THERE ANY QUESTIONS? IT'S A LONG STRING OF INSTRUCTION BUT HOPEFULLY IT MAKES THEM SENSE. THANKS EVERYBODY. GOING TO HAVE GROUP E WHICH IS I.T. AND DATA SCIENCE NEEDS FOR DATA HARMONIZATION, RUSS WHITEMAN WILL GIVE PRESENTATION WITH EILEEN TEAM. >> I'M DOING THE FIRST TWO, EILEEN WILL BE THE BACK THREE BUT WE'LL PROBABLY FORGET COMPONENTS IN EACH. DO WE HAVE THE SLIDES? >> GET CLOSER. >> OKAY. DO WE HAVE THE SLIDES? >> RIGHT THERE. >> OKAY, ALL RIGHT. LET ME SEE. GREAT. SORRY ABOUT THAT. OKAY. SO WE'VE GOT THESE FIVE QUESTIONS, KIND OF WHAT'S THE DATA INFRASTRUCTURE THAT WILL HELP DATA SHARING, WHAT WILL ENSURE SYSTEMS ARE INTEROPEARABLE, AND EXAMPLES, COMMON DATA ELEMENT DISCUSSION AND HOW YOU LINK REGISTRIES WITH A PARTICULAR LOVE OF GUIDs, PASSIONATE TO EILEEN. IN GENERAL, THERE WAS A DISCUSSION, WE RECOGNIZED, WHERE THE I.T. GROUP, A LOT CONNECTS BACK TO THE HUMAN AND DATA GOVERNANCE ISSUES, THINKING ABOUT WHEN PATIENTS ARE CONSENTED AS CONSENT BROAD VERSUS WHEN YOU RELY ON WAIVER OF CONSENT COME INTO PLAY WITH WHAT YOU CAN SHARE. THERE WAS A DISCUSSION AROUND TECHNICAL ISSUES USING NIH RESOURCES IN GENERAL, A DESIRE FOR SYSTEMS , THERE WAS DISCUSSION WHAT DEGREE COULD THE NIH WORK SO AUDITING PARTNERS WERE MORE CONSISTENT ACROSS EACH USE OF THE INFRASTRUCTURE, A LOT OF TIMES WHEN YOU HAVE A NEW AUDITOR IT OPENS THE BOX AND CREATES CHURCH. CHURN. THERE WAS A DISCUSSION OF RED CAP, SO WIDELY ADOPTED, THAT WHEN YOU THINK ABOUT JUST BASIC DATA COLLECTION INSTRUMENTS, CASE REPORT FORMS, THE DATA DICTIONARIES ARE A TOOL THAT'S VERY USEFUL IN FACILITATING DATA SHARING AND SHARING DEFINITIONS OF WHAT DATA IS BEING COLLECTED. SOME OTHER ITEMS TOUCHED UPON LATER WOULD BE WHEN WE'RE TALKING ABOUT DATA SHARING, WHAT TYPE OF GUID METHODOLOGY IS USED. WE HEARD ROUGHLY SOMEONE SAID THREE GUIDs ARE IN PRACTICE AMONG NIH STUDIES. WE DISCUSSED ALSO THAT UNDERLYING EVERYTHING IS THE ACTUAL IDENTIFIERS THAT ARE REAL IDENTIFIERS OF PATIENTS, AND SO EVEN THOUGH A REQUEST MAY BE DEALING WITH DE-IDENTIFIED IDENTIFIERS, HAVING PROVENANCE TO KNOW WHAT IDENTIFIERS THEY HAVE CAN BE USEFUL BECAUSE THEY MAY WANT TO HASH NEW IDENTIFIERS OVER TIME. KEY EXAMPLE THAT WAS DISCUSSED WAS PEOPLE IN EMRs DO NOT RECORD WHERE THE PERSON WAS BORN, THEY MAY KNOW WHERE THEY ARE NOW, BUT YOU MAY HAVE A VERY GOOD GUID, DEPENDING WHAT YOU'RE LINKING MAY NEED TO KNOW WHAT SOURCE IDENTIFIERS ARE AVAILABLE. THINKING ABOUT HOW THIS MAY CHANGE WITH COMMON RULE WAS DISCUSSED. A PIECE OF DATA INFRASTRUCTURE IS HAVING COMMON DATA PORTALS, SO I THINK WE LEARNED ABOUT SOME OF THE WORK IN IMAGING, CONSISTENT DATA PORTALS FOR UPLOADING DATA THAT FACILITATES DATA SHARING AND USING CONSISTENT DATA MODELS HELP AS WELL. SO THOSE ARE PROBABLY THE MAIN SUMMARIES FROM THE FIRST QUESTION. HOW CAN WE ENSURE DATA SYSTEMS& ARE BUILT AND ARE INTEROPERABLE? A GREAT PLACE TO START IS STANDARDS, ARE YOU USING CONSISTENT DEFINITIONS FOR CASE REPORT FORMS, DO YOU USE CONSISTENT DATA DICTIONARIES DEFINING VALUE SETS FOR THINGS AS SIMPLE AS RACE, AGE. WELL, AGE IS MORE SIMPLE. RACE, GENDER IS IMPORTANT. THERE WAS DISCUSSION ABOUT IT MAY OR MAY NOT NEED TO HAVE EVERYTHING IN A SINGLE PLACE OR CLOUD ENVIRONMENT. OTHER THINGS THAT CAN FACILITATE INTEROPERABILITY ARE OPEN LICENSES, OR I CAN ADOPT A STANDARD SOMEONE ELSE CAN ADOPT, NO COST INCURRED FOR EACH. A GOOD EXAMPLE OF A PLACE IN THE EXAMPLE SPACE THE FACT THE NIH INVESTED IN PATIENT-REPORTED OUTCOME MEASURES IN A PROJECT CALLED PROMIS, AND OVER THE TIME THOSE PROMIS MEASURES ARE EMBEDDED IN EMRs, RED CAP TEAM FACILITATING EMBEDDING PROMIS MEASURES IN RED CAP, EASY TO ADOPT CONSISTENT PATIENT-REPORTED MEASURES. THERE WAS FURTHER DISCUSSION ABOUT HOW SYSTEMS ARE BUILT WHERE NATIONAL LIBRARY OF MEDICINE HAS WORKED WITH REDCAP TEAM SO NOW REDCAP CAN CALL BIOPORTAL SO AS PEOPLE BUILD AND COLLECT DATA WITH QUERY WHAT STANDARDIZED TERMS ARE FOR QUESTIONS THEY ASK. AND THERE WAS DISCUSSED OTHER NEWER TERMINOLOGY SERVICES GENERATED BY THE COORDINATING CENTER. ANOTHER PLACE NIH DS INCLUDE PEOPLE MAY WANT TO PAY ATTENTION TO IS HL 7 WHICH HAS BEEN DEFINING STANDARDS FOR HOW EMR SYSTEMS AND ADMINISTRATIVE SYSTEMS TALK TO ONE ANOTHER, A LAB SYSTEM CAN TALK TO A PHARMACY SYSTEM TO AN ADMISSION SYSTEM WITH NEWER STANDARDS OVER THE PAST 10 YEARS, FHIR, WHICH MAKE IT EASIER TO KNOCK ON THE DOOR OF AN EMR AND DOWNLOAD DATA CONSISTENTLY. PAYING ATTENTION TO STANDARDS USED BY FHIR COULD BE USEFUL AS A BASIS FOR DATA HERE AND THEN OTHERS MENTIONED, ALLISON I BELIEVE, EVEN OTHER AREAS LIKE GENOMICS OR DEEP PHENOTYPING PEOPLE ARE LOOKING AT HOW FHIR WORKS IN TERMS OF MAKING THAT BE A POTENTIAL METHOD FOR HOW YOU OBTAIN OR INTEGRATE THAT TYPE OF DATA. AND SO THIS NEXT NOTE, THIS WAS FURTHER DISCUSSION OF THESE FISH -- FHIR STANDARDS. HOW DO YOU MANAGE INVESTIGATORS? LIKE HOW DO YOU KNOW IT IS WHO IT IS? THERE'S A STANDARD CALLED O-OFF THAT ALLOWS YOU TO AUTHENTICATE PEOPLE. IF PEOPLE HAVE DONE CITY TRAINING, USED AS LOCAL LOG-IN, PAYING ATTENTION TO IF THERE'S AN ISSUE AROUND MANAGING HOW INVESTIGATORS HAVE ACCESS TO DATA OR INDIVIDUALS FOLLOWING THERE WAS A DISCUSSION ALSO AROUND SUCCESSES AROUND TO WHAT DEGREE DOES A COMMUNITY SHARE CODE, SOFTWARE AND TOOLS SO IT'S EASY TO BUILD ON THE BACKS OF OTHERS. GOOD SUCCESS WHERE PEOPLE SHARE MANUALS, UPLOAD DATA AND THERE'S SUCCESSFUL EXAMPLES IN THE COMMUNITY THERE AS WELL. AND THAT'S KIND OF THE SUMMARY ON ONE AND TWO. AND NEXT WE WILL TALK ABOUT COMMON DATA. >> OKAY. OUR DISCUSSIONS OF OUR FIVE KIND OF BLED INTO EACH OTHER, AND SO WE GOT TO TALKING ABOUT COMMON DATA ELEMENTS, AND OUR UNDERSTANDING IS THAT DIFFERENT INSTITUTES AT NIH HAVE DIFFERENT COMMON DATA ELEMENTS, AND COULD THERE BE JUST ONE OVERARCHING SET OF COMMON DATA ELEMENTS THAT COULD BE USED? IF NOT THERE NEEDS TO BE SOME INFORMATION SHARED SO THAT WHEN PEOPLE WANT TO DETERMINE WHAT KIND OF DATA ELEMENTS TO INCLUDE IN THEIR COHORTS WHERE DO THEY GO TO FIND OUT WHAT POSSIBILITIES ARE. IT WOULD BE PREFERABLE IF THERE WOULD BE ONE SET OF COMMON DATA ELEMENTS USED ACROSS INSTITUTES. AND SO SOME OF THE THINGS THAT WE THOUGHT WOULD BE IMPORTANT IS THAT'S COLLECTED IN ALMOST EVERY STUDY IS DEMOGRAPHICS, MEDICAL HISTORY, MEDICATION, ADVERSE EVENTS. AND WHAT WE THOUGHT WAS MAYBE A GOOD PLACE TO START FOR THE INCLUDE IS TO LOOK AT WHAT IS BEING -- WHAT WAS DONE IN DS-CONNECT, WHEN IT WAS BUILT, TAKE A LOOK AT THE ELEMENTS INCLUDED, CODE, NAMED, SEE HOW THOSE COULD BE USED AS BASIC SET OF COMMON DATA ELEMENTS FOR THIS PARTICULAR POPULATION. AND SO WE AGAIN TALKED ABOUT COULD WE BUILD UPON THE EHR AND HAVE THEM USE STANDARDS WHERE WE COULD PULL DATA OUT OF THE EHR AND INCLUDE INTO THE -- INCLUDE IT INTO OUR DATABASES THAT WE'RE BUILDING FOR THIS PARTICULAR POPULATION. SO WE HAVE A LOT OF THINGS ON HERE. WE NEED -- WHEN WE'RE BUILDING THESE COHORTS WE NEED TO HAVE DATA DICTIONARIES THAT DON'T VARY, HAVE STANDARD DEFINITIONS, THE OTHER THING WE TALKED ABOUT AS FAR AS COMMON DATA ELEMENTS, IT GOES WITH SHARING CODE, IS IF THERE ARE THINGS THAT YOU'RE COLLECTING RAW DATA BUT THEN THERE'S A STANDARD WAY OF HOW YOU NEED TO TAKE THAT RAW DATA AND CALCULATE A SCORE, FOR EXAMPLE, LIKE PQL, TO SHARE THAT CODE SO EVERYBODY HAS THAT AVAILABLE AND THEY CAN ALL BE CALCULATING THAT EXACTLY THE SAME WAY. HOW CAN REGISTRIES SUCH AS DS-CONNECT OR NDAR FACILITATE LINKAGE, THIS LEADS TO NUMBER FIVE, DC-CONNECT DOES USE GUIDs BUILT ON THE NDAR SYSTEM FOR ASSIGNING GUIDs, IT WOULD BE GOOD IF WE HAVE SOME KIND OF GLOBAL IDENTIFIER THAT WE COULD USE FOR THESE PATIENTS WHO PARTICIPATE IN RESEARCH. THE NEXT QUESTION IS, WELL, HOW UNIQUE ARE GUIDs? THAT WAS A BIG DISCUSSION, THEY MAY NOT BE AS UNIQUE AS WHAT WE THINK BECAUSE OF THE IDENTIFIERS THAT ARE USED TO ASSIGN THE GUID. IN ORDER TO BE ABLE TO CONNECT DATA ACROSS DIFFERENT DATA SOURCES, I THINK THIS WAS TALKED AT THE BEGINNING, WE NEED TO CERTAINLY HAVE BROAD CONSENT WHERE THE PATIENTS WILL ALLOW YOU TO USE YOUR DATA AND TO BE ABLE TO CONNECT TO OTHER DATA IN ORDER TO ANSWER QUESTIONS SO IF YOU'RE COLLECTING DATA IN THE AREA OF CONGENITAL HEART DISEASE BUT WANT TO USE YOUR PATIENTS WITH DOWN SYNDROME, IN THIS PARTICULAR RESEARCH YOU NEED YOUR CONSENTS TO BE BROAD ENOUGH TO ALLOW THAT TO HAPPEN. AGAIN WE TALKED ABOUT ARE GUIDs UNIQUE AND HOW CAN YOU ASSURE DATA LINKAGES, AND AGAIN I THINK THAT OUR UNDERSTANDING THERE'S MULTIPLE WAYS OF GENERATING GUIDs, NEEDS TO BE ONE OVERARCHING WAY WITH MAYBE MULTIPLE DIFFERENT IDENTIFIERS THAT COULD BE USED SUCH THAT IF YOU'RE MISSING ONE OF THEM YOU COULD STILL UNIQUELY IDENTIFY THE PATIENT BECAUSE YOU HAVE OTHER INFORMATION IN THERE IN ORDER TO ASSIGN A UNIQUE GUID. ACCORDING TO OUR UNDERSTANDING, THE FIVE ELEMENTS CURRENTLY THAT YOU NEED IS FIRST NAME AT BIRTH, LAST NAME AT BIRTH, DATE AND CITY AND GENDER AT BIRTH BUT IT'S POSSIBLE THERE'S INDIVIDUALS WHO DON'T KNOW THAT INFORMATION AND THEREFORE YOU'RE MISSING ONE OF THE ELEMENTS. COULD THAT BE -- COULD THERE BE śCOULD ASSIGN SOME KIND OF UNIQUE IDENTIFIER. THIS METHOD OF ASSIGNING GUIDs MAY WORK FAIRLY WELL IN THE UNITED STATES ALTHOUGH YOU'RE TILL GOING TO LOSE OUT ON SOME POPULATIONS WHERE THEY MAY NOT KNOW ADOPTED CHILDREN OR SUCH, MAY NOT KNOW CITY OF BIRTH, SOME PEOPLE DON'T EVEN -- THAT ARE OUTSIDE OF THE COUNTRY MAY NOT EVEN KNOW WHAT THEIR DATE OF BIRTH IS, OUTSIDE OF THE UNITED STATES, AND SO THERE NEEDS TO BE SOME THOUGHT GIVEN TO HOW COULD YOU COLLECT THE RIGHT INFORMATION IN ORDER TO BE ABLE TO UNIQUELY ASSIGN GLOBAL IDENTIFIERS. IF ANYONE IN THE GROUP HAS ANYTHING TO ADD PLEASE FEEL FREE TO SPEAK UP. WE HAD A LIVELY DISCUSSION, AS YOU CAN TELL FROM OUR NOTES. [APPLAUSE] >> I HAVE A QUESTION FOR YOU ALL. I MEAN WE RECOGNIZE THERE ARE THESE ISSUES ABOUT GUIDs, THERE'S NO SINGLE REALLY UNIQUE IDENTIFIER, THERE'S NO PERFECT ALGORITHM OR AT LEAST DATA ELEMENTS THAT YOU CAN USE TO GENERATE A GUID, BUT GIVEN WHAT WE HAVE NOW IT'S NOT THE IDEAL WORLD, WHAT KINDS OF APPROACHES SHOULD WE TAKE TO ADDRESS THIS ISSUE IF WE DO WANT TO CREATE A COHORT FOR DOWN SYNDROME? LINKING DATASETS USING SOME UNIQUE IDENTIFIER THAT CAN BE GENERATED RELIABLY BUT DOESN'T REVEAL PERSONALLY IDENTIFIABLE INFORMATION. >> I'LL TAKE A CUT. VERY GOOD POINT, WHEN WE THINK ABOUT A GUID, UNIQUELY IDENTIFIED, IN LARGE CITY LIKE L.A., THERE MAY BE A LOT OF PEOPLE WITH THE SAME NAME AND COLLISION. FOR THIS SPECIFIC COMMUNITY ADD DIMENSION OF DOWN SYNDROME ON THAT DATA. IT'S PROBABLY PRETTY GOOD, THE NDAR GUID RIGHT NOW. THE CHALLENGES BECOME WHEN YOU'RE LINKING DATA WHERE YOU DON'T KNOW CITY OF BIRTH BECAUSE IT'S ADMINISTRATIVE CLAIMS OR EHR DATA. MY TAKE IF YOU'RE DOING PROSPECTIVE WORK WHERE YOU CAN CAPTURE THAT DATA, FOLLOW THAT EXAMPLE. SO IF JUDD AND THE DC-CONNECT SYSTEM USE THE NDAR YOU GUID PLEASE KEEP USING THE SAME ONE BUT MAY WANT A BACKUP STRATEGY TO INTEGRATE DATA WHERE THEY ARE NOT ABLE TO COLLECT THE DATA. YOU MAY HAVE A TWO-PHASE STRATEGY, ONE WHERE WE DO NDAR GUID, SO WE CAN BE IN SYNC WITH D S-CONNECT, BUT BUT MAYBE WE HAVE ANOTHER APPROACH FOR LINKING THAT DATA. >> THE OTHER CASE COULD BE HOW MUCH RESEARCH IS GOING GOING ON, WHAT ARE THE BARE BONE INFORMATION YOU NEED TO UNIQUELY IDENTIFY SOMEONE. ARE WE BEYOND THESE FIVE, IS THERE SOMETHING WE CAN ADD? IS IS THERE ADDITIONAL THINGS? AND IT WOULD BE INTERESTING TO KNOW IF ANYONE OUT THERE IS DOING RESEARCH IN ORDER TO EXPAND THIS OR REPLACE SOME OF THESE ITEMS WITH SOMETHING ELSE THAT'S EASILY GOTTEN. >> THERE'S A LOT OF WORK, FOR EXAMPLE INDIANA, THERE'S A LOT OF PLACES YOU CAN LEVERAGE AND SEE WHAT'S OUT THERE IN MORE THAT ADMINISTRATIVE EHR SPACE THAT MIGHT COMPLEMENT THE GUID. >> WHAT I'M HEARING YOU SAY IS THAT USING THE NDAR GUID IS NOT A BAD STARTING POINT BUT THOSE INDIVIDUALS WHERE WE MAY NOT HAVE ALL THE INFORMATION SUCH AS CITY OF BIRTH. THERE MAY BE SOME SORT OF BACKUP SYSTEMS THAT MIGHT BE USABLE IN THOSE CONTEXTS OR JUST AN AGREED UPON SYSTEM FOR DEALING WITH THE INCOMPLETE DATA THAT ARE NECESSARY TO GENERATE THE NDAR GUID. >> FOR PEOPLE DOING THE NATURAL HISTORY STUDIES, COHORTS THAT MIGHT TURN INTO WHERE WE RECRUIT FOR CLINICAL TRIALS, WOULD THAT BE THE RECOMMENDATION WE'RE GETTING FIVE ELEMENTS IN OUR DEMOGRAPHICS FORMS? BASICALLY IT'S NOT REQUIRED NOW BUT START SETTING IT UP? YEAH, IT WOULD MAKE IT EASY, IF YOUR GOAL IS TO LINK THEM TO STUDIES THAT WOULD LOWER YOUR BARRIER. >> I GUESS THE QUESTION WOULD BE DO YOU COLLECT IT ON DEMOGRAPHICS FORMS OR DO YOU COLLECT IT SOMEWHERE? BECAUSE DO YOU WANT THIS INFORMATION IN YOUR DATABASE THAT'S EXPORTED OR DO YOU WANT IT IN ANOTHER FILE WHERE YOU AT LEAST HAVE THAT INFORMATION BUT THAT DOESN'T GET EXPORTED SOMEWHERE ELSE? >> THE CITY OF BIRTH, WE CAN EASILY GET IT, WHERE DO WE STATE IT? >> SAVED AT EACH INDIVIDUAL SITE. >> WITH FIRST AND LAST NAME NOT IN DATASETS BUT ARE IN OUR FILES. >> ONE THING OUR GROUP WAS VERY VOCAL ABOUT WAS AT LEAST MOVING FORWARD FOR INCLUDE FUNDED DS INITIATIVES TO REQUIRE. IT WAS VERY STRONGLY SUGGESTED BY OUR GROUP TO TRY AND REQUIRE RESEARCHERS TO USE WHATEVER GUID SOURCE WE DECIDE BUT REQUIRE TO USE THAT, MOVING FORWARD. >> ANY OTHER COMMENTS? QUESTIONS? THERE WAS A LOT OF GOOD DISCUSSION IN THAT GROUP. SO THANK YOU VERY MUCH. >> ALL RIGHT. OUR NEXT GROUP IS GROUP F, DATA SHARING IN INTERNATIONAL ISSUES, LED BY JAMES AND ADAM >> ONE OF THE THINGS THAT WAS IMMEDIATELY EVIDENT IS THAT THE CHALLENGES FOR DATA SHARING ARE NOT NECESSARILY UNIQUE TO INCLUDE OR TO THIS CONTEXT, THEY ARE MUCH BROADER AS A WHOLE, AND AS A RESULT SOME GENERAL THEMATIC CONTEXT CAME UP, ALSO SOME DOWN SYNDROME-SPECIFIC CONTEXT THAT I THINK THE GROUP DID A REALLY AMAZING JOB. HOW DO WE BUILT A CULTURE OF RAW DATA SHARING AMONG RESEARCHERS, ADVOCACY GROUPS AND INDIVIDUAL FAMILIES WITH DOWN SYNDROME? ARE THERE INITIAL STEPS? WHAT ISSUES EXIST, DOMESTICALLY AND INTERNATIONALLY? HOW CAN WE ENSURE ACCESS TO DATA FOR SECONDARY USES. FOR THOSE IN KIDS FIRST AND MANY OTHER EFFORTS, THESE ARE UBIQUITOUS AND RECURRENT QUESTIONS THAT THE COMMUNITY FACES, IN THE CONTEXT OF BIG DATA EFFORTS THAT SPAN GENOMICS AND CLINICAL DATA. SO WE COULD SEE SOME NOTES FROM DISCUSSION POINTS BUT I THINK THAT THE CONTEXT, LIKE IN MANY PREVIOUS PRESENTATIONS, SPANNED SOME QUESTIONS AND THEY FOCUSED ON COMPONENTS THAT THE NIH CAN INFORM ON, PROCESS DRIVEN OPERATIONAL IN NATURE, COMPONENTS, INSTITUTIONALLY CONTROLLED, COMPONENTS THAT ARE DEFINED BY RESEARCH NETWORK FOR DOWN SYNDROME AND THEN WHERE THE PATIENT AND ADVOCACY COMMUNITY CAN COME IN. THOSE FOUR TOUCH POINTS CROSSING MANY QUESTIONS. SO THE FIRST QUESTION BUILDING A CULTURE FOR BROAD DATA SHARING AMONG RESEARCHERS, ONE, I THINK IT BECAME CLEAR WE NEED THE RIGHT TOOLS AND INFRASTRUCTURE THAT THE PREVIOUS SESSION DISCUSSED, BUT THE SECOND COMPONENT IS IMPLEMENTATION OF A STANDARDIZED PROCESS AND BROAD-BASED CONSENT UTILIZATION WITHIN THE COMMUNITY. I THINK THERE'S A A LOT OF SUPPORT FOR THIS. ONE THING THAT WILL COME UP LATER WAS THAT THE COMMUNITY AS A WHOLE PARTICULARLY IN PROSPECTIVE STUDIES WOULD APPRECIATE A TEMPLATE OR NIH GUIDANCE AS WHAT SHOULD A BROAD CONSENT DOCUMENT LOOK LIKE THE OTHER OUTSIDE NIH CONTROL CENTERED ON CONVERSATION. FIRST IS A NARRATIVE WHEN IT COMES TO DATA SHARING CHALLENGES WHICH IS THAT EVEN THOUGH COMMUNITY MEMBERS OFTENTIMES SHARE AMONGST THEMSELVES, A CULTURE OF DATA SHARING IS COUNTERACTED BY REQUIREMENT TO SUPPORT ESPECIALLY YOUNG INVESTIGATORS. YOUNG INVESTIGATORS NEEDS TO ESTABLISH OWNERSHIP OF RESULTS AND MATRICULATE THROUGH PROMOTION STRUCTURE WITHIN THE UNITED STATES AND BROADLY EVERYWHERE ELSE OFTENTIMES AT ODDS BECAUSE THEY ARE TRYING TO NAVIGATE OWNERSHIP IN WAYS THAT CAN SUPPORT THEIR CAREERS. SO ONE OF THE QUESTIONS WAS HOW CAN WE DO THAT, SUPPORT YOUNG INVESTIGATORS, PARTICULARLY IN THIS CONTEXT BECAUSE WITHIN OUR COMMUNITY WE DEFINITELY WANT TO SUPPORT PIPELINING OF YOUNG INVESTIGATORS INTO THIS RESEARCH ARENA. SO ONE OF THE RECOMMENDATIONS THAT CAME FROM THE GROUP WAS THE NIH, PARTICULARLY THIS POINT IN TIME, HAS AN OPPORTUNITY TO MORE DIRECTIONALLY INCLUDE LANGUAGE IN RFAs AND GRANT APPLICATIONS THAT REQUIRE DESCRIPTION OF HOW YOUNG INVESTIGATORS MIGHT BE SUPPORTED AND/OR CREATE MORE SPECIFIC YOUNG INVESTIGATOR GRANT MECHANISMS, PARTICULARLY THAT LEVERAGE LARGE SCALE RESOURCES, PROJECTS LIKE INCLUDE, MAYBE I'LL STOP HERE, JAMES. >> I MEAN, THIS IS A PROBLEM THAT GOES ACROSS ALL FIELDS, AND NIH CAN'T DICTATE WHAT THAT DECISION IS GOING TO BE MADE ON, BUT WE WILL THINK ABOUT HOW TO DO ESPECIALLY IN CONTEXT OF DISCRETE PROGRAS LIKE INCLUDE, WE CAN THINK OF WAYS THAT WE CAN STIMULATE PROGRAMS FOR YOUNG INVESTIGATORS, AND ALSO WE CAN IN THE CONTEXT OF DISCRETE FOAs, WE CAN ASK FOR REVIEW CRITERIA THAT HAVE INCLUSION OF BROAD COALITIONS OF INVESTIGATORS AND DATA SHARING AND THOSE KIND OF THINGS. IN SOME WAY AT LEAST POINT OUT THAT THOSE OPERATIONS ARE IMPORTANT, BUT THE CULTURE OF ACADEMIA IS REALLY PROBABLY UP TO ALL OF ACADEMIA TO TRY AND CHANGE WHEN YOU SIT -- WHEN YOU'RE AND OLD BOY AND SIT ON REVIEW COMMITTEE. >> QUESTION? >> YEAH. SEGUE WHAT JAMES WAS SAYING, CSR LEVEL, WHEN WE HAVE THAT IN OUR REVIEW FORMS, SIT IN STUDY SECTION, WE COULD HAVE AN INSTRUCTION OR GUIDELINE FOR THE CASES WHERE WE HAVE, SAY, FOR EXAMPLE DATA SCIENTISTS NOT LEADING ANY ONE PROJECT BUT IS MAKING IMPORTANT CONTRIBUTIONS TO TEN DIFFERENT BIG DATA PROJECTS. WE HAVE REVIEW GUIDELINES TIME AND TIME AGAIN, SO THIS COULD BE IN A STEP WHERE YOU CAN SHOW AT THE CSR LEVEL, STUDY SECTION LEVEL, YOUNG INVESTIGATORS NOT BEING PUNISHED BY NOT HAVING CORRESPONDING PAPERS OR TYPE OF METRICS MAY USE FOR PROMOTION BECAUSE ONE OF THE FIRST THING TENURE COMMITTEE IS GOING TO LOOK AT IS THIS PERSON NIH FUNDED OR NOT. >> WE DISCUSSED THIS IN THE GROUP WHICH IS TWO THINGS THAT ARE PROMINENT IN THE TENURE COMMITTEE PROCESS, ONE FUNDING BY THE NIH, SECONDARILY PUBLICATIONS, RIGHT? PERHAPS YOU CAN COMPENSATE OR LEVERAGE FUNDING VERSUS PUBLICATION PRIMACY, ULTIMATELY SHIFT METRICS THAT REWARD TEAM-BASED COLLABORATIVE EFFORTS SUCH THAT THEY ARE REWARDED BY THE TENURE COMMITTEE BECAUSE TENURE COMMITTEES REWARD WHAT THE NIH REWARDS, TO SOME EXTENT WE HAVE TO SHIFT TOWARDS THAT STRUCTURE. ONE OF THE THINGS THAT THEN CAME UP AS WE BEGAN TALKING MORE BROADLY, UNDERLYING PREMISE BEHIND DATA SHARING IS THAT IT'S BEYOND EGALITARIAN, SO THE CONCEPT BEHIND DATA SHARING AND ACCELERATED DATA SHARING IS THEY WILL ACTUALLY DRIVE ACCELERATED DISCOVERY, RIGHT? SO ACCESS TO DATA AND ITS AVAILABILITY, INTEROPERABILITY, EVERYTHING WE DISCUSSED TODAY SHOULD LEAD TO ACCELERATED DISCOVERY AND PROCESSES BUT THE NARRATIVES HAVE TO ALIGN WITH THE OTHER SORT OF LEG OF THE THREE-LEGGED STOOL AMONG NIH INSTITUTIONS AND PATIENT AND COMMUNITY, AND IT'S CLEAR THAT DATA SHARING AT THE NARRATIVE IS NOT EQUALLY OWNED BY DISEASE POPULATION ACROSS THE NIH AND SO FOR EXAMPLE COMMUNITIES LIKE KIDS FIRST WHERE WE HAVE PEDIATRIC CANCER PATIENTS, THEY HAVE AN IMMEDIACY OF NEED TO ADVANCE RESEARCH IN WAYS THAT ARE IMMEDIATELY TANGIBLE FOR THEM. THEY HAVE MEDIAN LIFE SURVIVAL OF NINE MONTHS OR SHORTER, SO FOR THEM ACCELERATED RESEARCH AND ANYTHING THAT DRIVES ACCELERATED RESEARCH BECOMES A CALL TO ACTION, IN WAYS THAT THAT INSTITUTIONS AND OTHER ENTITIES CAN ALIGN WITH AND CERTAINLY INVESTIGATE INSTITUTIONS DO NOT WANT TO BE AT RECEIVING ENDS OF FOUNDATIONS CALLING AND SAYING WHY AREN'T YOU SHARING DATA, OUR CHILDREN ARE DYING. HOWEVER, IT BECAME CLEAR AS WE DISCUSSED THAT WITHIN THE CONTEXT OF DOWN SYNDROME THERE ISN'T ONE UNIFORM NARRATIVE PARTLY BECAUSE OF THE DISTRIBUTION OF CHALLENGES, REALITY THAT RESEARCH IS NOT OCCURRING FROM THE DAY-TO-DAY LIFE CHALLENGES WITHIN THE COMMUNITY, SO YOUNG PATIENTS MAY HAVE SPEECH AND LANGUAGE PRIORITIES, OLDER PATIENTS MAY HAVE OTHER PRIORITIES. AND CERTAINLY FAMILIAL STRUCTURES ARE DIFFERENT ACROSS THOSE. AND SO THERE ARE OPPORTUNITIES TOE THINK ABOUT CREATING A COMMUNICATIONS STRATEGY ASSOCIATED WITH WHAT IS INCLUDE TRYING TO DO AND HOW IS ACCELERATING RESEARCH ALIGNED WITH WHAT PATIENTS NEEDS TO ENGAGE IN THE NARRATIVE THEMSELVES. MORE SPECIFICALLY HOW CAN THE DIRECT ACTIVITIES OF INCLUDE AS A GROUP OF INVESTIGATORS, WHAT WE'RE DOING, DIRECTLY IMPINGING ON REAL DELIVERABLES AT THE PATIENT FRONT LINES THAT THEY CAN UNDERSTAND AND OWN IN WAYS THAT MIGHT BE ANALOGOUS TO THE PEDIATRIC BRAIN TUMOR PATIENT WHO IS HOPING FOR A PARTICULAR THERAPY. NARRATIVE OF A NEED AND OPPORTUNITY FOR INCLUDE AS A GROUP, TO DEVICE A MORE PROMINENT NARRATIVE FOR WHY DOES BRINGING ALL OF YOU TOGETHER DO SOMETHING UNIQUELY DIFFERENT NOW THAT DIDN'T EXIST BEFORE, AND WHAT'S GOING TO BE THE OUTCOME. THAT COULD BE AN ENGAGING NARRATIVE, IN WAYS THAT I THINK THE GROUP SEEMED TO IDENTIFY AS REALLY KEY AND POSSIBLE ACROSS MULTIPLE AGE LEVELS. AND I THINK IN DOING SO, IT SOUNDED LIKE THE GROUP REALLY WAS TRYING TO ADDRESS WHAT SOUNDED LIKE A POTENTIAL COMMON NARRATIVE WITHIN THE RESEARCH CONTEXT OF PATIENTS WITH DOWN SYNDROME, WHICH IS THAT, YOU KNOW, THE PATIENT SHOULD NOT FEEL LIKE THEY ARE A TEST SUBJECT OR A GUINEA PIG FOR RESEARCH. SO REALLY TRANSFERRING OR CREATING NARRATIVE, A STORY SHARED ACROSS THE RESEARCHER, INSTITUTION AND PATIENTS THAT PROVIDE THE COMMON ENDPOINT FOR SUCCESS. ANY COMMENTS? >> SO, STEPS CENTERED AROUND COMMUNICATION STRATEGY, AROUND DATA SHARING AND ITS IMPACT IN A CONTEXT OF THIS PREMISE OF LARGE SCALE COLLABORATIVE EFFORTS ARE ACCELERATE RESEARCH AND WHAT WILL BE DELIVERABLES, CREATING ADDITIONAL METRICS IN WAYS THE NIH CAN INFORM, ALIGN WITH TECHNOLOGIES AND STRUCTURES THAT ADVANCE DATA SHARING. SO BEYOND THE ACADEMIC STRUCTURE WHAT ARE THE OTHER ISSUES THAT DETER BROAD CONSENT FOR DATA SHARING? PARTICULARLY IN OUR GROUP IT WAS CLEAR THAT HETEROGENEITY OF PRACTICES BOTH ACROSS STATES WITHIN THE UNITED STATES, ACROSS THE BORDER, AND ENTER NATIONAL CONTEXT CAN PRESENT REAL BARRIERS FOR IMPLEMENTATION, AND THAT THE GROUP BY AND LARGE RIGHT NOW FUNCTIONS AS A SORT OF PEER-TO-PEER NETWORK OF INVESTIGATORS THAT IS NOW BEING REQUIRED AND ASKED TO ENGAGE IN A MUCH BROADER INFRASTRUCTURE SUPPORTED DATA SHARING CONTEXT SO CONSENTING IS DEFINITELY A KEY OPPORTUNITY TO IMPACT CHANGE. AND THEN THE OTHER IS TO LEVERAGE PARTICULARLY ACROSS U.S. AND EUROPEAN CONTEXT, OTHER CONSORTIA AND/OR EFFORTS LIKE THE T21 CONFERENCE, WHERE EUROPEAN ENTITIES CAN ALSO PRIORITIZE DEFINING PRACTICES AND STANDARDS FOR DATA SHARING AND REQUIREMENTS ALONGSIDE WITH U.S.-BASED EFFORTS IN THE CONTEXT OF THESE NEW LARGE SCALE DATASETS. MUCH DISCUSSION FOLKS USES ON EUROPE AND THE U.S. BUT THERE ARE MANY MORE PATIENTS WITH DOWN SYNDROME IN INDIA AND CHINA THAN ANYWHERE ELSE PROBABLY COMBINED, AND THERE'S STILL REAL OPPORTUNITIES FOR ENGAGEMENT BUT THIS REQUIRES DEEPER ANALYSIS FOR ENGAGEMENT AND STRATEGIES TO CREATE MUTUALLY BENEFICIAL STRUCTURES ACROSS THEM, DATA PRACTICES AND SHARING WITHIN CHINA OR OTHER ENVIRONMENTS DO REQUIRE ADDITIONAL TECHNICAL SOLUTION AND REGULATORY PROCESSES. WITHIN THE INTERNATIONAL CONTEXT, REGULATION IS GUIDED BY GDPR, EVEN IN THE EUROPEAN CONTEXT IS APPLIED DIFFERENTIALLY WITHIN DIFFERENT COMMUNITIES. HOWEVER, THERE OPPORTUNITIES TO LEVERAGE CONSENSUS WITHIN THE EUROPEAN UNION PARTICULARLY BY IDENTIFYING KEY LEADERSHIP CONTEXT LIKE IN GERMANY OR OTHER AREAS THAT ONE EUROPEAN UNION NATION -- ONCE PRACTICES ARE ADOPTED MANY OTHERS WILL FOLLOW SUIT. NIH-APPROVED TEMPLATE FOR CONSENT IS SOMETHING THAT IS VERY MUCH SUPPORTED BY THE INTERNATIONAL COMMUNITY. AND THEN THE ONE LAST CHALLENGE THAT CAME UP IS THAT EASTBOUND IN THE CONTEXT OF GDPR AND REGULATORY COMPLIANCE COMMERCIAL CLOUD USE LIMITATIONS WITHIN THE E.U. CAN STILL BE CHALLENGING AND STILL AN EVOLVING CONTEXT MEANING THAT E.U. COUNTRIES ARE RELUCTANT TO PLACE CONTROL DATA IN COMMERCIAL CLOUD VENDOR CONTEXT LIKE AMAZON OR GOOGLE FOR FEAR OF GOVERNMENT INTERVENTION IN THE FUTURE.. LAST QUESTION, I THINK UNDERLYING THIS QUESTION IS CLEAR GUIDANCE FROM THE NIH AND EXPECTATION THAT INCLUDE WILL NOT FALL PREY TO THE MODEL OF A THREE-TIERED SYSTEM WHERE YOU HAVE EMBARGO DATA, CONSORTIUM DATA, SECONDARY USE DATA. AND RECOGNIZE THAT IN COMPLIANCE WITH NIH POLICIES THERE WILL BE SOME TIME FOR HARMONIZING, Q.C.-ING AND CREATING DATA SETS WILL YOU THERE SHOULD BE LIMITED DIFFERENCES BETWEEN SECONDARY USERS AND INCLUDE OR INVESTIGATORS WHO ARE WITHIN THE DOWN SYNDROME COMMUNITY, TRYING TO FOCUS ON NARRATIVE THAT INTEROPERABILITY AND BROADER ENGAGEMENT OF THE COMMUNITY IS IN LINE WITH CONTEXT FOR DISCOVERY AND WE HAVE INVESTIGATORS AND COHORTS THAT ARE NOT DO YOU THINK SYNDROME SPECIFIC, AND ARE TRYING TO PENETRATE AND INTEROPERATE WITH THIS COMMUNITY.. WE HAVE TO MANDATE AND PRIORITIZE SCIENTIFIC VALIDITY, TRUST IN THE CONTEXT. HOWEVER, THERE ARE OTHER TOOLS THAT INTERVENTIONS THAT CAN COME INTO PLAY THAT SUPPORT PEER TO PEER INTERACTION AND TRANSPARENCY IN WAYS THAT CAN BE REWARDED WITHIN THE COMMUNITY FOR NON-DBGaP MEDIATED INTERACTIONS FOR DATA SHARING. AGAIN, THESE ARE SOLUTIONS THAT WE CAN EXPLORE IN THE CONTEXT OF THE EMERGING DATA COMMONS ARCHITECTURE. ANYTHING THAT I MISSED? >> NO, BUT THAT LAST POINT TO ANY EXTENT POSSIBLE, THIS SHOULDN'T BE A CONSORTIUM THAT YOU'RE BUILDING. IT SHOULD BE SHAREABLE BY EVERYONE, ALTHOUGH IT IS A GOOD PRACTICE TO GO BACK TO THE ORIGINAL INVESTIGATOR AND CONSULT WITH THEM ESPECIALLY ABOUT COMPLEX CLINICAL DATA AND PHENOTYPIC DATA. I WOULD SAY THERE'S A LOT THAT CAN BE DONE BY A DATA RESOURCE CENTER THAT CAN'T BE DONE OFFICIALLY BY NIH, AND I WOULD LIKE TO MAKE SURE THAT YOU DON'T THINK THAT NIH CAN OFFICIALLY SOLVE ALL THE PROBLEMS OF DATA SHARING AND DATA USE, ALTHOUGH A DATA RESOURCE CENTER CAN PROVIDE TOOLS THAT HELP EITHER INCENTIVIZE OR COUNTER-INCENTIVIZE DATA HOARDING OR HELP NIH STAFF TO ENFORCE DATA USE AGREEMENTS AS IT WERE. >> AND I'LL JUST ADD A BENEFICIALARY, KIDS FIRST OR ANY OTHER DATA RESOURCE, AND THE NIH, LEVERAGE THE CAR CARROT AND STICKS THE NIH CAN PROVIDE VERSUS THE VEGETABLES THE COMMUNITY CAN PROVIDE. >> NIH HAS CARROTS AND STICKS AND EVERYONE ELSE HAS NICE VEGETABLES? THANK YOU FOR THE PRESENTATIONS. WE DON'T HAVE A LOT OF TIME SO UNLESS THERE'S SOMETHING PRESSING I THINK WE'LL MOVE ON TO THE NEXT GROUP. ALL RIGHT. GROUP F -- I'M SORRY, GROUP G, REGISTRIES AND COHORT NEEDS. LED BY SCOTT AND ELIZABETH. SCOTT, YOU'RE UP TO GIVE THE PRESENTATION. AND YOU HAVE A PARTNER NOW. SID IS GOING TO HELP. SID O'BRIEN WILL PROVIDE INPUT. >> YES, IT'S ANOTHER TAG TEAM. DO I NEED TO DO ANYTHING TO GET TO THE NEXT -- >> (INAUDIBLE). >> DESKTOP AT THE TOP. OKAY, GREAT. ALL RIGHT. WE'RE GOING TO HAVE A TAG TEAM. LIKE OTHER GROUPS, WE HAD MANY MORE POINTS AND DISCUSSION THAN WE COULD PROBABLY COVER SO I'M GOING TO TRY TO BE BRIEF. WE HAD FIVE QUESTIONS, I'LL COVER THE FIRST TWO AND SID WILL DO THE LAST. SO, THE FIRST TWO QUESTIONS ACTUALLY KIND OF WENT TOGETHER, BECAUSE THE FIRST ONE HAD TO DO WITH SPECIAL CONSENT ISSUES. AND THEN THE SECOND HAD TO DO WITH THE ISSUE AS IT CROSSED THE LIFESPAN. SOME OF OUR POINTS WILL BLEED INT EACH OTHER A BIT. WHAT'S UNIQUE ABOUT THIS QUESTION THAT WE HAD TO ADDRESS IS THAT THERE ARE FOUR DIFFERENT SITUATIONS WE THOUGHT THAT HAD TO BE ADDRESSED. ONE IS CHILDREN CONSENTING AND ASSENTING RESEARCH, ADULTS WHO ARE CAPABLE OF GIVING THEIR OWN CONSENT, ADULTS WHO MAY NOT BE ABLE TO GIVE THEIR OWN CONSENT, AND THEN ADULTS WHO ARE CAPABLE BUT BECOME UNABLE TO GIVE CONSENT AS THEY GET OLDER. SO ALL THOSEMENT NOW, FORTUNATELY IN SOME SENSE THERE HAS BEEN SOME CLARITY IN TERMS OF - - IT USED TO BE WHO IS LEGALLY AUTHORIZED REPRESENTATIVE WAS A PUZZLING QUESTION FOR PEOPLE IN MOST STATES, SO THAT IF YOU LIVED IN NEW YORK CITY YOU COULD HAVE ONE HOSPITAL HAVING ONE POLICY, ANOTHER HOSPITAL HAVING ANOTHER POLICY. WITH THE REVISED COMMON RULE AS LONG AS YOUR INSTITUTE THOUGHT THROUGH AND DEVELOPED A POLICY THAT ISSUE HAS BEEN ADDRESSED. SO THIS QUESTION HAS -- ONE OF THE THINGS WE MENTIONED THERE'S INFRASTRUCTURE, SO TO SPEAK, THAT HAVE BEEN DEVELOPED ALREADY, THAT COULD BE TURNED INTO ANSWER A LOT OF THESE QUESTIONS THAT I MENTIONED FOR THE DIFFERENT GROUPS. AND SO THAT'S SECOND POINT ABOUT LESSONS FROM DEMENTIA, A.D. RESEARCH COMMUNITY, WHERE FOR EXAMPLE A PRACTICE MIGHT BE A PERSON WHO COMES INTO THE CLINIC OR COHORT AT THAT TIME MIGHT ALSO BE ASKED TO DESIGNATE A FUTURE PROXY IN CASE OF ONE'S FUTURE INCAPACITY. A LOT OF RESEARCH CENTERS USE THAT, THAT COULD BE APPLIED HERE. ANOTHER ISSUE THAT WE DISCUSSED AT LENGTH, I WOULD PUT UNDER THE RUBRIC OF ALTHOUGH WE HAVE THE LEGAL AND ETHICAL CONCEPT OF CONSENT, THE ISSUE OF CONTINUOUS CONVERSATION, THE TEAM REALLY ASSESSING THE QUALITY OF THE COMMUNICATION AND SO FORTH, SO THAT THE REQUIREMENTS FOR ASSENT, WHICH IS ACTUALLY IN THE PEDIATRIC REGULATIONS, BUT ALSO AS IT APPLIES TO PERSONS WHO MAY NOT BE ABLE TO CONSENT AS ADULTS SHOULD ALWAYS BE SOMETHING THAT HAS TO BE KEPT IN MIND, INCLUDING THE ISSUE OF DISSENT WHEN PEOPLE RESIST OR DISAGREE OR APPARENTLY DISAGREE WITH CERTAIN PROCEDURES OR CONTINUING ON. THAT HAS TO BE SOMETHING THAT YOU HAVE TO HAVE ONGOING MONITORING ABOUT. LET'S SEE. I THINK THAT'S THE POINT I JUST MADE. SPECIAL CONSIDERATION CONSENT ONLINE REGISTRIES, WE TALKED ABOUT. MELISSA HAS MOST EXPERIENCE ON THIS ISSUE BECAUSE OF DC-CONNECT, AND AS I SAID, EVEN THOUGH WE HAVE THE EXPERIENCE AND THE INTELLECTUAL INFRASTRUCTURE, YOU MIGHT SAY, TO DEAL WITH MOST OF THE CONSENT ISSUES THAT COME UP, IT IS A VERY NOVEL FRONTIER KIND OF ISSUE TO DO ONLINE CONSENT WHEN YOU HAVE THIS DIVERSE POPULATION OF PERSONS OF CAPACITY. AND THAT'S SOMETHING THAT WE HAD A BRIEF DISCUSSION ABOUT. I THINK ONE PERSON MENTIONED THE POSSIBILITY OF -- CAN WE DEVELOP BEST PRACTICES REGARDING THAT. I DON'T THINK WE HAD A CONSENSUS ABOUT THAT BECAUSE IT'S A VERY EARLY KIND OF EXPERIENCE THAT WE'RE HAVING ABOUT THAT. BUT IT'S SOMETHING THAT WE HAVE TO LEARN MORE ABOUT. MOVING ON TO THE ISSUE OF CONSENT ACROSS A LIFESPAN, THE KEY ISSUE HERE, ONE OF THE KEY ISSUES OBVIOUSLY IS THE FACT THAT A LOT OF PARTICIPANTS WOULD BE ENROLLED WHEN THEY ARE YOUNGER THAN 18, AND GIVEN THE REQUIREMENT FOR RECONSENTING, THAT'S SOMETHING THAT WILL CREATE LOTS OF ISSUES PERHAPS, IN TERMS OF COORDINATING AND SO FORTH. OHRP HAS PROVIDED GUIDANCE YOU NEED TO GET RECONSENT WHEN PEOPLE TURN 18 AND IF YOU'RE DOING IS CONTINUED TO BE CONSIDERED HUMAN SUBJECT RESEARCH. THAT ISSUE THAT WE WANTED TO KIND OF -- WE DISCUSSED THAT HAS TO BE KIND OF PUT IN THE CONTEXT OF ESPECIALLY IF IS THERE A CHANGE IN CIRCUMSTANCES, IS THERE INCREASING RISK, ADDITIONAL PROCEDURES? MOST OF THOSE ISSUES WILL BE TAKEN CARE OF BY THE FACT IF YOU'RE IN A COHORT AND FROM THAT COHORT IF YOU'RE INCLUDED IN ANOTHER STUDY THERE WILL BE A SEPARATE CONSENT. BUT YOU MAY -- THE NATURE OF THE STUDY MAY EVOLVE TOO, AND EVEN FOR PEOPLE WHO ARE ALREADY ADULTS GAVE CONSENT, REVISITING CONSENT ISSUE MAY COME UP BUT THAT HAS TO BE DONE JUDICIOUSLY TO MAKE SURE THERE'S A CLEAR PURPOSE AND THAT THERE'S THE ETHICAL NEED THAT OUTWEIGHS BURDEN AND IMPACT ON THE STUDY. OF COURSE, WE HAD TO -- NO DISCUSSION OF ETHICS AND CONSENT IS COMPLETE WITHOUT A FEW MINUTES OF VENTING ABOUT THE COMPLEXITY OF INFORMED CONSENT, SO I WANT TO REPORT THAT WE DID OUR DUTY TALKING ABOUT THAT STUFF BUT ALSO THE NEED TO SIMPLIFY OUR LANGUAGE TO THE EXTENT POSSIBLE. WE SHOULD SEE NEW REVISED COMMON RULE REQUIREMENT FOR THE KEY INFORMATION PAIN AT THE TOP OF THE INFORMED CONSENT, A REAL OPPORTUNITY TO TOUCH ON KEY ISSUES FOR THE RESEARCH WE'RE TALKING ABOUT. WE SHOULD SEE THAT AS AN OPPORTUNITY. THERE WAS CONCERN THAT ESPECIALLY FOR ONLINE CONSENT TRUST IS SO IMPORTANT BECAUSE YOU'RE KIND OF SIGNING UP, YOU DON'T KNOW WHO THE PEOPLE ARE, FROM THE PERSPECTIVE OF THE PARTICIPANT, WE NEED TO BE SENSITIVE TO THE FACT PEOPLE MIGHT NOT HAVE ALL THE TRUST WE THINK WE DESERVE AS RESEARCHERS OR WHATEVER, AND THAT HAS TO BE TAKEN INTO ACCOUNT. AND ESPECIALLY IN THIS REGARD THERE WAS ALSO A MENTION OF THE FACT THAT INTEREST MAY BE SOME GENERATIONAL DIFFERENCES AND HOW RESEARCH IS PERCEIVED, DEPENDING ON, YOU KNOW, THE OLDER GENERATION OF PEOPLE VERSUS YOUNGER. THAT'S SOMETHING THAT WE FELT WAS SOMETHING THAT WAS IMPORTANT TO PAY ATTENTION TO. I THINK WE'VE COVERED MOST OF THAT IN WHAT I SAID EARLIER SO I THINK I'M GOING TO LET SID TAKE OVER. >> OKAY. SO THE THREE QUESTIONS THAT I'M GOING TO COVER ALSO KIND OF BLEED INTO YESTERDAY'S DISCUSSION WITH THE SAME GROUP OF PEOPLE SO IT WAS VERY HELPFUL FOR THAT. SO, WHAT ARE -- FEEDBACK OF RESULTS BACK TO PARTICIPANTS WAS SOMETHING WE DISCUSSED TODAY AND YESTERDAY AT LENGTH. AND I THINK THE GENERAL CON CONSENSUS MOST OF US AGREED ON WE NEED TO DO MORE, WE NEED TO BE ABLE TO PROVIDE SOMETHING BACK AND WE TALKED ABOUT WHEN YOU'RE ENGAGING ESPECIALLY DIVERSE COMMUNITIES THERE'S THAT CBPR APPROACH TO THINGS WHERE GIVING BACK IS A VERY IMPORTANT COMPONENT BUT I CAN'T A PRIORI DEFINE WITH A GIVING BACK MEANS TO YOUR COMMUNITY. BUT IT'S VERY COMPLEX AND IT'S PROBABLY STUDY SPECIFIC BUT WE DO NEED AS A COMMUNITY TO DO MORE WITH REGARDS TO PROVIDING TANGIBLE INDIVIDUAL LEVEL FEEDBACK TO PEOPLE AS THEY ARE PART OF THESE STUDIES, THAT'S SOMETHING THAT WE CAN AND SHOULD DO. BUT IT OPENS UP A VARIETY OF ISSUES. SO THAT YOU CAN ONLY PROVIDE BACK RESULTS THAT ARE CLINICALLY APPLICABLE, SO YOU CAN PROVIDE BACK COGNITIVE TESTING IF THESE ARE CLINICALLY USED TESTS, CAN PROVIDE CLINICAL LABS BUT ONLY IF DONE IN A CLIA-CERTIFIED SETTING. THESE THINGS ARE IMPORTANT AND ONEROUS. IT TAKES A LOT OF INVESTIGATOR TIME TO BE ABLE TO DEAL WITH THIS BUT YOU HAVE TO BE ABLE TO DEAL WITH THE QUESTIONS THAT COME BACK, SO YOU HAVE TO BE -- THIS IS A COLLABORATIVE PROCESS. ONE OF THE OTHER KEY POINTS THAT CUTS ACROSS ALL OF THESE IS THAT THIS IS A TEAM-BASED APPROACH. WE SHOULD HAVE TEAMS THAT INCLUDE ADVOCATES, INCLUDE THE COMMUNITY CLINICIANS, ET CETERA, SO THAT NO ONE GROUP IS SAYING HERE IS WHAT WE'RE GOING TO DO. IT'S A COLLABORATIVE PROCESS THAT PROVIDES FEEDBACK IN THE COMMUNITIES, ITERATIVE, SO CAN YOU PLAN AHEAD, DON'T OVERBURDEN THE SYSTEM, YOU CAN MANAGE EXPECTATIONS AND WE SHOULD BE ASKING THE COMMUNITIES WHAT IS IT THAT THEY FEEL THAT IS IMPORTANT TO GIVE BACK, WHAT IS IT MEANINGFUL. WHAT ARE THE RESULTS YOU WANT TO PROVIDE. THIS IS A DISCUSSION PROBABLY STUDY-SPECIFIC BUT THEN THERE'S DIFFERENT WAYS TO DO IT. THE NOTION CAME UP OF THE DUAL IDENTIFICATION SYSTEM THAT CLIA LABS ALREADY USE THAT HELPS PROTECT DATA BETTER. BUT YOU NEED -- WE NEED TO THINK CAREFULLY WHAT ARE WE GIVING AND TO WHOM. SOME DATA SHOULD ONLY GOING BACK TO A PROVIDER SO THAT THERE'S SOMEONE WHO CAN EXPLAIN THE RESULTS. THIS WAS A VERY COMPLICATED QUESTION BUT THIS IS POSSIBLE, HOW DO YOU LINK ACROSS THESE REGISTRIES, ESPECIALLY THE VERY TANGIBLE, WE SAID, YOU COULD FOR EXAMPLE HAVE IRB APPROVAL AT A LOCAL LEVEL, TO CONNECT WITH DS-CONNECT AND DS-CONNECT HAS APPROVAL, AND COULD YOU BUILD A INFRASTRUCTURE THAT ALLOWS DATA TO GO BACK AND FORTH, A COMPLICATED ENDEAVOR BUT PROBABLY WELL WORTH SPENDING TIME ON. THEN THE LOCAL STUDIES WOULD BE THE HOUSES OF THESE BIOREPOSITORIES, ET CETERA, WHICH WOULD DEFINITELY FACILITATE RESEARCH ACROSS PROJECTS. I'M RUNNING OUT OF TIME SO YOU CAN READ THESE THINGS, I DON'T NEED TO SAY IT. AND THIS IS REALLY A LOT OF WHAT WE JUST SAID, IS ENTERING DATA, ENGAGING PARTICIPANTS, PROMOTING INDIVIDUAL LEVEL VERSUS AGGREGATE LEVEL INFORMATION COMING BACK TO THE COMMUNITIES. AND WHEN YOU TAKE MORE OF A TEAM-BASED APPROACH, COMMUNITY-BASED APPROACH, YOU CAN WORK THESE THINGS OUT AHEAD OF TIME AND MAKE THESE DEFINITIONS AND MANAGE EXPECTATIONS BUT THERE ARE A LOT OF UNIQUE THINGS THAT COULD BE DONE LIKE THE ENGAGING THROUGH GAMING COMMUNITIES AND REWARDING VIA THESE BADGES AND ANY OF US WITH KIDS, WE SEE THIS ON A DAILY BASIS AND IT'S A WONDERFUL OPPORTUNITY THAT WE COULD DO. AND AGAIN WE HAVE TO KEEP THE DISTINCTION BETWEEN RESEARCH AND CLINICAL PROCEDURES, WHAT GOES BACK AND WHAT DOESN'T. I THINK THAT'S IT. I'LL STOP. >> WE'RE RUNNING OUT OF TIME. RACHEL IS GOING TO THROW SOMETHING AT ME. >> GREAT. THANK YOU. ANY PRESSING QUESTIONS? COMMENTS? SOME PEOPLE HAVE TO LEAVE AND SOME PEOPLE MAY BE RUNNING OUT OF STEAM AS WELL. OUR LAST GROUP IS REGISTRY -- I'M SORRY, H, CLINICAL TRIAL READINESS. RUTH AND MARYA WERE LEADING THIS GROUP, LOOKS LIKE IT'S A TEAM EFFORT HERE FOR THE PRESENTATION. >> HI,EVERYONE. WE'LL MAKE THIS FAST. I KNOW PEOPLE ARE TIRED AND HAVE TO GO. WE HAD A REALLY TERRIFIC GROUP, GREAT ENGAGEMENT AND GREAT CONVERSATION. WE'LL SUMMARIZE AND DO TEAM WORK. SO, THE FIRST QUESTION, THESE WERE THE QUESTIONS, WHAT ARE THE BEST STRATEGIES TO OUTREACH THE COMMUNITY INCLUDING CLINICIANS, RESEARCHERS AND ADVOCACY GROUPS, SO TALKING ABOUT KEY STAKEHOLDERS. WHAT APPROACHES CAN FACILITATE RECRUITMENT AND RETENTION OF FAMILIES AND SUBJECTS TO BUILD A DS COHORT? HOW CAN WE BUILD A PIPELINE OF INVESTIGATORS, HOW DID WE ENSURE THE COHORTS ARE PREPARED FOR FUTURE CLINICAL TRIALS, AND ARE THESE SPECIAL CONSIDERATIONS FOR CLINICAL TRIALS IN THOSE WITH DS ACROSS THE LIFESPAN. WE HIGHLIGHT AND UNDERLINE AND PUT IN RED SOMETHING REALLY IMPORTANT WHICH IS ABIDING BY COMMUNITY-BASED PARTICIPATORY RESEARCH GUIDELINES. THIS COMES UP IN TERMS OF CONSENT AND ENGAGING WITH THE COMMUNITY BUT WE THOUGHT THIS WAS AN IMPORTANT POINT TO GET ACROSS. WE TALKED A LOT ABOUT CULTURALLY COMPETENT STRATEGIES, SO USING MULTIPLE STRATEGIES AND TAYLOR-MADE STRATEGIES, PARTNERS AND CAREGIVERS, AND THE DIVERSITY THAT WE SEE BUT DON'T OFTEN DO A GOOD JOB OF PAYING ATTENTION TO, IN TERMS OF MULTI-LINGUAL NEEDS, CULTURAL DIFFERENCES, SOCIOECONOMIC DIFFERENCES, PEOPLE WHO LIVE IN THE RURAL COMMUNITIES WHO REALLY HAVE A HARD TIME PARTICIPATING IN RESEARCH AND HOW WE REACH OUT TO THEM. THESE WERE ISSUES THAT RESONATED AGAIN AND AGAIN IN OUR DISCUSSIONS. WE TALKED ABOUT BUYING IN FROM KEY STAKEHOLDERS, SO GREAT CONVERSATION ABOUT COMMUNITY ENGAGEMENTS AND HOW DO WE REACH OUT TO PEOPLE IN THE COMMUNITY IN PLACES LIKE JUST AS EXAMPLES BARBERSHOPS, HOUSES OF WORSHIP, OR PLACES IN THE COMMUNITY AND ESTABLISH RELATIONSHIPS TO COMET -- TO MEET COMMUNITY NEEDS, LOOP WITH HEALTH WORKERS IN THE COMMUNITY, IN THE CONTEXT OF THE BIG PICTURE AND THE GIVE AND TAKE, BIDIRECTIONAL WE NEED IN ORDER TO HAVE ENGAGEMENT AND RELATIONSHIPS. THE ISSUE OF TRUST REALLY COMES UP IN THESE CONVERSATIONS BECAUSE YOU'RE BUILDING TRUST WITH NOT JUST CAREGIVERS BUT ALSO WITH THE CONSTITUENTS THAT WE WANT TO STUDY AND THE SUPPORT GROUPS COULD BE A REAL NICE SORT OF LEVERAGING POINT IN TERMS OF GETTING ENGAGEMENT WITH PEOPLE THAT WE WANT TO STUDY. SO WE TALKED ABOUT BUILDING RESOURCES TO CONNECT WITH THE HEALTH SYSTEMS. AND AGAIN ADVOCACY GROUPS AND PROFESSIONAL SOCIETIES, INCREASING THE NUMBER OF PATIENT ADVOCATES AND ENGAGING THEM IN EARLY STAGES. ALSO THE CLINICAL TEAMS, SO THE PRIMARY CARE PHYSICIANS, O.T.s AND P.T.s, SPEECH PATHOLOGISTS PEOPLE THAT ENGAGE ON A REGULAR BASIS, THIS COMES UP IN A LATER POINT AS WELL. TECHNOLOGY HAS IMPROVED A LOT RECENTLY, AND SO TELEHEALTH, TELEAUDIOLOGY, TECHNOLOGY THAT PEOPLE USE TO CONNECT WITH US SO IF YOU'RE TEXTING OR E-MAILING AS OPPOSED TO MAKING A PHONE CALL OR SENDING A FLIER HOW DO WE USE TECHNOLOGY TO REACH OUT TO ENGAGE AND TO GET INPUT FROM PEOPLE. WE TALKED ABOUT STANDARDIZING EDUCATIONAL RESOURCES. SO BOTH PRE AND POST NATAL, THINKING ABOUT HOW WE WORK WITH PROVIDERS AND EARLY INTERVENTION RESOURCES, AND THE STANDARDIZATION AND NORMING OF THESE RESOURCES COULD BE VERY IMPORTANT IN TERMS OF SENDING INFORMATION HOME WITH FAMILIES, WHEN THEY COME TO SEE, WHEN THEY GET DIAGNOSED, IN THE HOSPITAL, HOW DO YOU NORMALIZE AND STANDARDIZE THE INFORMATION THAT IS SENT HOME. THE SECOND POINT, THE SECOND QUESTION, WHAT PLIECHS CAN FACILITATE RECRUITMENT AND RETENTION OF FAMILIES AND SUBJECTS, SO WE CAN BUILD THE DS COHORT AND UNDERSTAND NATURAL HISTORY INCLUDING, AND WE FOCUSED ON UNDERREPRESENTED GROUPS. SO RESONATING AGAIN IN THIS CONVERSATION IS THE IDEA THAT EDUCATION AND ENGAGEMENT OF RESEARCH FINDINGS, AND THIS CAME UP WITH A PRIOR TALK AS WELL, SO FIRST OF ALL UNDERSTANDING WHAT PEOPLE WITH DOWN SYNDROME AND THEIR FAMILIES WANT TO KNOW, AND NOT JUST ASSUMING WE KNOW WHAT THEY WANT TO KNOW BUT ASKING QUESTIONS ABOUT WHAT IT IS THEY ARE LOOKING FOR IN INFORMATION THAT WE SHARE. AND ALSO TIMELY DISSEMINATION OF INFORMATION, SO SOMETIMES WE HAVE RESULTS AND WE SIT ON THEM AND PEOPLE AREN'T GOING TO GO AND READ REALLY LONG JOURNAL ARTICLES. WHAT THEY WANT IS A SUMMARY, SO MAYBE IN SOME KIND OF NEWSLETTER OR SOME KIND OF A CONDENSED WAY TO SHARE INFORMATION ABOUT WHAT ARE THE NEWEST FINDINGS, WHAT ARE THE INTERESTING FINDS, THE HOT FINDINGS, DISSEMINATING NOT IN FIVE OR TEN YEARS BUT HOW IS INFORMATION ROLLING OFF AND HOW CAN WE SHARE IT AS QUICKLY AS POSSIBLE. ALSO, JUST ACKNOWLEDGING PARTICIPATION. SO WHEN PEOPLE PARTICIPATE IN RESEARCH, ACKNOWLEDGING WITH A LETTER OR E-MAIL OR CARD THAT SAYS THANK YOU. AND ALSO THE TIMING OF INFORMATION RELEASED SO WHEN YOU GET A GRANT IF YOU'RE READY TO RECRUIT, GO AHEAD AND DO THAT BUT IF YOU KNOW IT'S GOING TO BE A WHILE BEFORE THE RECRUITMENT HAPPENS, SHARE THE INFORMATION IN A TIMELY MANNER SO YOU'RE NOT HOLDING PEOPLE AT BAY FOR MANY MONTHS AT A TIME UNTIL YOU'RE READY TO DO THE RECRUITMENT. THE NEXT BULLET POINT HAS TO DO WITH HOW MUCH DIFFERENT MODES OF INFORMATION SHARING DO PATIENTS AND -- TO PATIENTS AND FAMILIES IS APPROPRIATE. THE NEXT POINT RESONATING WITH PRIOR TOPICS AND SOMETHING THAT OUR GROUP FOCUSED ON IS ADDRESSING CULTURAL AND LANGUAGE BARRIERS FOR UNDERREPRESENTED GROUPS. SO IF WE'RE GOING TO REACH PEOPLE WHO ARE FROM MINORITY BACKGROUND OR FOR WHOLE ENGLISH IS A SECOND LANGUAGE THINK ABOUT HARNESSING INTERPRETERS, PEOPLE FROM LOW SOCIOEONOMIC BACKGROUND, RURAL AREAS, MAY NOT FIND IT THAT EASY TO ENGAGE IN RESEARCH AND SO THEY MAY BE SORT OF UNNATURALLY PULLED AWAY FROM THE RESEARCH EVEN THOUGH WE NEED TO ENGAGE AS MANY PEOPLE AS POSSIBLE. AND ADAPTING, CULTURALLY ADAPTING OUR INFORMATION FOR A BROADER AND MORE DIVERSE SET OF PARTICIPANTS. AGAIN, WE TALKED ABOUT THE IMPORTANCE OF COMMUNITY ENGAGEMENT EVENTS AND NEW WAYS TO ADDRESS THE CONSENT, AND THIS CAME UP ALSO IN THE PRIOR DISCUSSION AS WELL. AND THE IMPORTANCE OF THE ASSENT, THIS IS MORE STANDARDIZED IN SOME AREAS THAN OTHERS. WE TALKED ABOUT ENGAGING ADULTS WHO DO NOT RESIDE WITH THEIR FAMILY MEMBERS, SO ADULTS WHOSE FAMILIES MAY NOT BRING THEM TO PARTICIPATE IN RESEARCH AND FACILITATE THAT AND HOW DO WE BROADEN ENGAGEMENT BY UNDERSTANDING WHERE PEOPLE LIVE AND WHO THEY LIVE WITH. AND BROADENING INCLUSION CRITERIA FOR CLINICAL TRIALS TO INCLUDE PEOPLE WITH DOWN SYNDROME, SO OTHER TRIALS GOING ON THAT CURRENTLY ACTIVELY EXCLUDE PEOPLE WITH DOWN SYNDROME COULD WE THINK ABOUT BROADENING THOSE CRITERIA BECAUSE IT MIGHT BE PERFECT, EXACTLY APPROPRIATE TO INCLUDE PEOPLE FROM -- WHO HAVE DOWN SYNDROME IN OTHER CLINICAL TRIALS. OKAY. THE OTHER PART OF NUMBER TWO IS WE TALKED ABOUT DECREASING TRIAL BURDEN, AND THAT COULD BE A WAY OF INCREASING REPRESENTATION. SO I MENTIONED A MINUTE AGO THE IDEA OF IMPLEMENTING TELEMEDICINE OR TELEHEALTH WHICH IS SOMETHING THAT REALLY BECAME MORE AND MORE AVAILABLE WITH INCREASE IN TECHNOLOGICAL ADVANCEMENT. SO, IN THAT MODE DISTINGUISHING RESEARCH FROM CLINICAL TRIALS AND WE TALKED ABOUT WHETHER THERE ARE MEASURES THAT WE CAN TAKE TO HOME VISITS AS OPPOSED TO EXPECTING PEOPLE TO COME TO US TO OUR CENTERS, WHICH WOULD REDUCE THE BURDEN IN TERMS OF FINDING PEOPLE MAYBE TO WATCH OTHER CHILDREN IN THE FAMILY, JUST THE TRAVEL TIME AND NUISANCE THAT'S INVOLVED IN PARTICIPATING IN RESEARCH. WE SEE THAT IN OTHER GROUPS THAT WE STUDY AS WELL. NOT JUST PEOPLE WITH DOWN SYNDROME. WE TALKED ABOUT THE FACT THAT CLINICIANS OFTEN GATHER DATA IN THEIR CLINICS THAT COULD BE ENTIRELY AND COMPLETELY APPROPRIATE FOR THESE CLINICAL TRIALS SO CAN WE CONTRACT WITH AND HAVE RESEARCH AGREEMENTS WITH CLINICIANS WHO COULD PARTNER WITH US, EFFECTIVE AND EFFICIENT WAYS TO HELP ADVANCE THE MISSION OF THE CLINICAL TRIALS. THE NEXT POINT IS GATHERING AND DISSEMINATING INFORMATION THROUGH THE RESEARCH COMMUNITY AND HOW WE CAN HARNESS SOCIAL MEDIA AND OUTREACH GROUPS TO HELP US MOBILIZE THOSE DIRECTIONS. THE THIRD QUESTION THAT WE DISCUSSED IS HOW WE CAN BUILD THE PIPELINE OF INVESTIGATORS WHO HAVE D S CLINICAL TRIAL EXPERIENCE. SO, ONE OF THE ISSUES TO USE EXISTING INCLUDE INFRASTRUCTURE WHICH WE'VE BEEN DISCUSSING FOR THE LAST COUPLE OF DAYS TO BRING IN EARLY AND ALSO ESTABLISHED INVESTIGATORS, SO SOME EXAMPLES ARE THE SUPPLEMENTS BUT THERE ARE OTHER EXAMPLES AS WELL. THE SECOND POINT IS CAPITALIZING ON EXISTING TRAINING MECHANISMS BUT FOCUS SPECIFICALLY ON DS. ONE EXAMPLE THAT WE TALKED ABOUT CERTAIN KINDS OF K AWARDS THAT COULD BE USED OR CAREER DEVELOPMENT AWARDS TO CAPITALIZE EXISTING TRAINING MECHANISMS. NOW, IN ADDITION THE DOWN SYNDROME OR INTELLECTUAL AND DEVELOPMENTAL DISABILITY NETWORKS AND CLINICAL TRIALS COULD HAVE SPECIFIC WORKSHOPS, OR MAYBE SYMPOSIA AT NATIONAL, INTERNATIONAL MEETINGS, THAT ARE NOT SPECIFIC TO D S AND IDD, SO FOR EXAMPLE THE SOCIETY FOR NEUROSCIENCE OR OTHER ORGANIZATIONS THAT THINK ABOUT TOPICS LIKE BRAIN MECHANISMS, OR, YOU KNOW, OTOLARYNGOLOGY OR PHARMACOLOGY, OTHER ORGANIZATIONS THAT DON'T SPECIFICALLY FOCUS ON D S BUT WHOSE INVESTIGATORS CLEARLY CAN AND MAYBE ARE ALREADY CONNECTED WITH THE DS NETWORK. SO, THINKING ABOUT A BIGGER AUDIENCE BASICALLY. AND THE LAST POINT HERE IS USING SPECIALIZED TRAINING PROGRAMS TO EDUCATE CLINICIANS, AND HOW TO INTERACT AND HOW TO INCLUDE SUBJECTS WITH IDDs BECAUSE A LOT OF US DON'T ACTUALLY KNOW UNTIL WE'RE TRAINED, SO WE START WITH THE BASICS OF TRAINING PEOPLE AND ALSO TRAINING OR USE THE TRAIN THE TRAINER MODEL WHICH IS THAT THE TRAINERS CAN BECOME BETTER AT ENGAGING AND UNDERSTANDING WHAT IS THE MOST APPROPRIATE WAY TO DO THIS KIND OF WORK AND THEY TRAIN THEIR PEOPLE THAT WORK WITH THEM. IT'S ALL YOURS. >> OKAY. THANKS, EVERYONE. I'LL TRY TO BE BRIEF. MOST OF THIS HAS BEEN COVERED ALREADY AS YOU KNOW SO QUESTION NUMBER FOUR FOR OUR GROUP WAS HOW CAN WE ENSURE THAT COHORTS ARE PREPARED FOR FUTURE CLINICAL TRIALS, AND IN PART A LOT OF THIS IS WHAT WE'VE BEEN DISCUSSING OVER THE LAST COUPLE OF DAYS, ALREADY CIRCULATING WAS THE XL SPREADSHEET MELISSA SENT AROUND SO WE KNOW WHAT'S OUT THERE, WHAT ARE WE DOING, WHAT ARE THE EXISTING COHORTS, WHAT ARE THOSE PATIENT POPULATIONS, WHAT ARE THE MEASURES THAT PEOPLE ARE COLLECTING. THE OTHER REALLY IMPORTANT PIECE OF INFORMATION AT LEAST THAT WE ALL AGREED UPON IS THAT WE NEED TO MAKE SURE THAT THESE PATIENTS HAVE ADEQUATE CONSENT FOR RECONTACT, AND SO FOR SOME REGISTRIES HAVING THAT IN PLACE IS INSTRUMENTAL WHEN YOU REACH TO REACH FAMILIES AGAIN TO ASK THEM TO BE INVOLVED IN FUTURE RESEARCH. AGAIN AS WE'VE TALKED ABOUT AT LENGTH, WHEN WE SEIKO HOTTER DRIVEN PRIERTSDZ IT MEANS WE NEED TO KNOW THE PRIORITIES OF THE PATIENTS, WHAT DO THEY WANT TO KNOW, WHAT ARE THE MOST IMPORTANT THINGS WE ARE WORKING TOWARDS. WE TALK ABOUT DEFINING OUTCOMES AND DETERMINING FEASIBILITY, AND WHAT I THINK THAT WAS MEANT TO CONVEY WAS THAT WE KIND OF IN ORDER FOR YOU TO HAVE A RESEARCH QUESTION YOU NEED TO KNOW WHAT YOUR RESEARCH QUESTION IS. SO SOMETIMES PEOPLE SAY HOW DO WE ENSURE COHORTS ARE PREPARED FOR FUTURE CLINICAL TRIALS BUT WE DON'T KNOW WHAT THAT QUESTION IS. WE PROBABLY CAN'T ANSWER EVERY SINGLE QUESTION IN ONE LARGE REGISTRY OR COHORT BUT WHEN WE GO TO APPROACH THAT OR BEGIN THINKING ABOUT THE CLINICAL TRIAL HAVING A CLEAR UNDERSTANDING OF WHAT YOUR OUTCOMES ARE AND WHAT YOU'RE TRYING TO ATTAIN IS IMPORTANT. DETERMINING CORE DATA ELEMENTS I'M HAPPY THAT EARLIER GROUP SPENT A LOT OF TIME ON THAT. THIS IS ABOUT AS MUCH AS WE GOT TO IT. STANDARD OPERATING PROCEDURES FOR THE BIOLOGICAL AND BEHAVIORAL DATA, SO I WAS COMING AT IT FROM A BIOLOGICAL STANDPOINT, HOW YOU PROCESS AND COLLECT SAMPLES, WHAT TUBES, HOW ARE YOU FREEZING THEM. WHEN YOU THINK ABOUT MULTITUDE OF COHORTS IN PLACE AND INSTITUTIONS AND RESOURCES THESE INSTITUTIONS HAVE, HAVING AT LEAST A BASIC STANDARDIZED OPERATING PROCEDURE WOULD BE INVALUABLE AND THEN I WAS EDUCATED THE SAME HOLDS TRUE FOR BEHAVIORAL DATA. SO I THINK WE HAVE AN OPPORTUNITY AT THIS POINT TO START THINKING ABOUT STANDARDIZING SOME OF THAT. THE OTHER POINT I THOUGHT WAS BROUGHT UP THAT WAS TERRIFIC WAS DON'T STOP NOW. DON'T STOP ACCELERATING IMPROVEMENT AND DEVELOPMENT OF EVALUATION AND VALIDATION OF NEW OUTCOME TOOLS SO EVEN THOUGH THE TOOLS WE HAVE MAY NOT NECESSARILY BE VALIDATED, AND CHILDREN ARE ADULT WAS DOWN SYNDROME IT DOESN'T MEAN WE SHOULD STOP THERE, WE SHOULD PUSH THE ENVELOPE. AND WE'RE ALWAYS TRYING TO THINK ABOUT HOW WE CAN UTILIZE TECHNOLOGY OR TELEHEALTH OR TELEMEDICINE IN THIS AS WELL. LASTLY, OUR LAST QUESTION TO WRAP THIS UP, ARE THERE SPECIAL CONSIDERATIONS FOR CLINICAL TRIALS IN THOSE WITH DOWN SYNDROME ACROSS THE LIFESPAN? AND OF COURSE WE KEEP LOOPING IN THE COMMUNITY-BASED PARTICIPATORY RESEARCH GUIDELINES WHICH ENCOMPASS A LOT. WE CAME TO THAT AT THE END OF A COUPLE-HOUR SESSION BUT THERE'S SO MUCH WE DON'T UNDERSTAND IN THIS PATIENT POPULATION BECAUSE THEY HAVE EXCLUDED FROM SO MANY STUDIES TRADITIONALLY, BASIC AS PHARMACOKINETICS AND PHARMACODYNAMICS ACROSS THE LIFESPAN, NOT JUST CHILDREN AND DEVELOPMENT AND HOW THOSE DRUG METABOLIZING ENZYMES MATURE WILL YOU IN THE AGING POPULATION WHEN KIDNEY FUNCTION OR LIVER FUNCTION ARE AFFECTED, AND WHAT THAT MEANS FOR DRUG DISPOSITION AND RESPONSE. WE ARE FALLING SHORT STILL ON HAVING VALIDATED OUTCOME MEASURES AND PATIENTS WHO HAVE DOWN SYNDROME AND THAT HAS TO BE RECTIFIED. WE TALKED ABOUT REGULATORY ISSUES AND CONSIDERING CONSENT AND ASSENT. THERE WAS DISCUSSION OF GLOBALIZATION OF DISABILITY MEASURES, LESS FAMILIAR WITH THAT BACKUP APPARENTLY THERE NEEDS TO BE SOME STANDARDIZATION OUTSIDE OF THE U.S. AS WELL. I THINK CAPITALIZING ON COLLABORATING WITH PARENTS IS IMPORTANT MAKING SURE WE'RE KEEPING THAT IN MIND AND COLLABORATING WITH BOTH ADVOCACY AND LOCAL SUPPORT NETWORKS. AND OF COURSE ALWAYS COMING BACK TO PRIORITIZING CLINICAL TRIALS ARE IMPORTANT TO OUR PATIENTS. I THINK IF WE KEEP THAT IN MIND AND KEEP THAT AS OUR TOP PRIORITY WE'LL NEVER GO WRONG. ANOTHER POINT THAT WAS BROUGHT UP WHICH IS INTERESTING IN THIS POPULATION OF PATIENTS IS WHEN YOU HAVE A DSMV FOR CLINICAL TRIAL, YOU'RE THINKING ABOUT ADVERSE EVENTS, DEFINING WHAT THAT ADVERSE EVENT MIGHT LOOK LIKE IN THIS POPULATION MIGHT BE DIFFERENT THAN ANOTHER POPULATION, SO IT'S AN AREA TO KEEP IN MIND AS I THINK YOU'RE CREATING A DSMV EDUCATING WHAT AN ADVERSE EVENT MIGHT LOOK LIKE, IF A CHILD IS HIDING UNDER A TABLE, FOR EXAMPLE, BECAUSE THEY DON'T WANT TO PARTICIPATE IN THAT RESEARCH STUDY, MAYBE THAT WOULD BE YOU HAVE TO KNOW THAT MIGHT BE CONSIDERED TO BE NON-ENGAGING IN RESEARCH TODAY, THEY ARE NOT INTERESTED IN THAT PROCEDURE TODAY. AND SO JUST A DIFFERENT WAY OF MAKING SURE WE'RE THINKING THROUGH THOSE PROCESSES ADEQUATELY. THAT'S IT. THANK YOU GUYS. >> FATS. [APPLAUSE] >> FANTASTIC. A ROUNDS OF APPLAUSE. [APPLAUSE] >> ANY COMMENTS OR QUESTIONS? NOW WE'RE GOING TO TRY TO WRAP UP IN THE LAST 18 MINUTES, TWO DAYS WORTH OF RICH CONVERSATIONS AND DISCUSSIONS, AND SORT OF TAKEAWAYS IN TERMS OF NEXT STEPS. GAIL AND I HAVE BEEN COMPARING NOTES. BEFORE I TAKE A LITTLE BIT OF DIVE, I WANT TO ASK FOR THOSE HERE, WE WOULD LIKE TO MAKE YOUR PRESENTATIONS INCLUDING THE BREAKOUT SESSION SUMMARIES AVAILABLE TO PARTICIPANTS, WHAT WE CAN DO IS OUR CONTRACTOR CAN MAKE A WEBSITE AVAILABLE, WE CAN SEND THAT OUT, AND IF YOU'D LIKE TO ACCESS THE PRESENTATIONS THEY WILL BE THERE. WE CAN'T POST THEM ON THE CURRENT WEBSITE BECAUSE THEY ARE NOT 508 COMPLIANT BUT THERE'S SOMETHING WE CAN DO AND IF ANY OF YOU GAVE A PRESENTATION YOU FEEL HAS PROPRIETARY INFORMATION OR YOU WANT TO REMOVE A SLIDE WHERE YOU MIGHT HAVE HAD DATA YOU DIDN'T WANT TO SHARE MOST OF THE PRESENTATIONS WERE NOT OF THAT NATURE BUT IF THAT IS THE CASE PLEASE LET US KNOW. WE'LL SEND OUT AN E-MAIL REMINDER AS WELL. WE'LL MAKE THE PRESENTATIONS AVAILABLE. BOTTOM LINE. THEN AGAIN DON'T FORGET TO FILL OUT OUR EVALUATION FORM WHILE WE'RE DOING OUR FINAL 17-MINUTE WRAP-UP. SOME THINGS WE HEARD ABOUT NEXT STEPS, SEEMS LIKE WE NEED TO DEVELOP SOME INVENTORIES AND WE'LL BE COUNTING ON YOU ALL TO HELP US POPULATE THOSE. SO THE ONE THAT WE'VE STARTED, WE HAVE 33 CLINICAL COHORTS LISTED. WE KNOW THERE ARE MORE OUT THERE. WE WILL BE SENDING OUT THAT EXCEL SPREADSHEET. THIS IS ANOTHER DOCUMENT WE CAN PUT ON A WEBSITE THAT CAN BE MADE AVAILABLE TO ALL OF YOU AND I THINK THAT, AGAIN, THAT SHOULD BE INFORMATION THAT SHOULD BE BROAD ENOUGH BUT HEPFUL ENOUGH TO THE BROADER DOWN SYNDROME RESEARCH COMMUNITY. IN ADDITION THERE WAS A CALL IN THE SECOND WORK GROUP YESTERDAY, GROUP B, FOR SURVEY, INVENTORY OF OMICS COHORT, WE CAN COMBINE OR SEPARATE BUT I'M SEEING NODDING ON VALERIE'S PART, DO WE NEED TWO OR ONE? ONE, OKAY. OKAY, GOOD. TWO OF YOU, THAT'S CONSENSUS. WE'LL HAVE A COMBINED CLINICAL AND OMICS COHORT SPREADSHEET THAT WE WILL MAKE AVAILABLE. AND THEN THE THIRD THING THAT WE HEARD IN TERMS OF FOLLOW-UP SURVEYS OF ALL, BEST PRACTICES FOR WORKING WITH FAMILIES WITH DOWN SYNDROME, AND OUTREACH RELATED ACTIVITIES, AGAIN BUILDING ON THE COMMUNITY-BASED PARTICIPATORY RESEARCH GUIDELINES WE HEARD ABOUT BUT SPECIFICS RELATED TO DOWN SYNDROME COMMUNITY. THAT'S SOMETHING WE CAN SEND OUT A CALL AND YOU ALL IF YOU HAVE SOME DOCUMENTS, GUIDANCE THAT YOU DEVELOPED THAT WOULD BE HELPFUL. THAT'S ONE CATEGORY OF FOLLOW-UP ACTIVITIES. A SECOND CATEGORY I REALLY FELT THERE'S A NEED FOR SOME WORKING GROUPS GOING FORWARD TO FLESH OUT SOME OF THESE CONCEPTS THAT WE BROADLY AGREED UPON. AND IN VERY BROAD STROKES I'M NOT GOING TO ASK FOR YOU ALL TO TEASE THESE APART AND SAY YOU HIT THE RIGHT CHORD OR THAT DOESN'T BELONG THERE BUT MAYBE ONE COULD BE DEVELOPING A MINIMUM COMMON DATASET WITH DATA STANDARDS AND DATA DICTIONARIES INVOLVED AND SOME COMMON DATA ELEMENTS THAT SEEMS TO ME LIKE THAT'S CRITICAL AND THAT'S SOMETHING THAT ALL OF THE CURRENTLY AND SOON TO BE FUNDED DOWN SYNDROME STUDIES DOING CLINICAL ASCERTAINMENT NEED, A SECOND WOULD BE LOOKING AT OUTREACH, RECRUITMENT AND WAYS TO PARTNER WITH CLINICIAN COMMUNITY. A THIRD COULD BE BIOSPECIMENS AND OMICS COLLECTION, IN PARTICULAR LOOKING AT UP AT -- UNIFORM. A FOURTH IS INTEROPERABILITY,AND FINALLY FIFTH THAT WE'VE BEEN PONDERING IS CLINICAL TRIAL READINESS CONCEPT, ADEQUATE DATA ABOUT PK AND PD IN THE DOWN SYNDROME POPULATION, THOSE ARE SOME WORK GROUPS WE ANTICIPATE CREATING MOVING FORWARD, MAYBE HAVING REGULAR MEETINGS, PERHAPS MONTHLY, AND WE'LL BE ASKING YOU ALL TO HELP US POPULATE THOSE GROUPS. AND THEN A THIRD KIND OF SCENARIO, MAIN CONCEPT WE WERE THINKING OF IS IN THE BEST OF ALL POSSIBLE WORLDS, IF RESOURCES WERE NO LIMIT, AND IF WE HAD BROAD CONSENT AND APPROVAL, WOULDN'T IT GREAT TO ENROLL EVERY CHILD WITH DOWN SYNDROME INTO A REGISTRY AND COHORT AND ENSURE THERE WERE OPPORTUNITIES FOR THEM TO PARTICIPATE IN RESEARCH STUDIES AND CLINICAL TRIALS. WE DON'T HAVE THAT IN THE U.S. WE DON'T HAVE GOOD EPIDEMIOLOGIC DATA FOR DOWN SYNDROME POPULATION IN THIS COUNTRY. IT WOULD BE NICE IF WE COULD DO THAT. SHORT OF BEING ABLE TO DO THAT WHAT'S THE NEST BEST THING? AND THAT REALLY LEADS TO THE KIND OF QUESTION THAT I WANT TO ASK OF YOU ALL, WHAT DO YOU THINK IS THE NEXT MOST IMPORTANT STEP THAT WE NEED TO DO TO REALIZE THIS GOAL? DOES ANYBODY HAVE SOME IDEAS? I'M OPENING THE FLOOR UP, REALIZING WE DON'T HAVE A TON OF TIME BUT IF SOMEBODY SAYS NIH YOU NEED TO DO THIS NEXT, SO THAT WE CAN MOVE FORWARD WITH THIS GRAND VISION, IF WE DID HAVE UNLIMITED RESOURCES, AND THE POWER TO MAKE IT HAPPEN. BLUE SKY IDEAS, OR HAVE WE EXHAUSTED YOU? REBECCA? >> MY COHORT IS GROWING. IT'S AT ABOUT 400, INCLUDING CHILDREN AND ADULTS, BUT LARGELY CHILDREN. I ACTUALLY INCLUDE A QUESTION IN MY ANTICIPATORY GUIDANCE WOULD YOU BE INTERESTED IN RESEARCH SO I CAN KEEP A RUNNING LIST OF FAMILIES THAT ARE INTERESTED. AND I BROACH THAT AT THE VERY BEGINNING. JUST INCLUDE THAT HONESTLY AS PART OF MY ANTICIPATORY GUIDANCE WITH MY VISIT, ONCE A YEAR, NOT EVERY VISIT BUT ONCE A YEAR I REVISIT THAT WITH FAMILIES. >> ASKING IF FAMILIES WANT TO BE PART OF A LARGER COMMUNITY OF RESEARCH PARTICIPANTS? >> IF THEY ARE INTERESTED. AS OPPORTUNITIES PRESENT THEMSELVES, I HAVE A GOOD COHORT OF FAMILIES THAT I KNOW ARE ALREADY INTERESED OR FAMILIES I KNOW ARE NOT INTERESTED THAT I DON'T CONTINUE TO BOTHER THEM EFFECTIVELY. >> SURE. SO PERHAPS A CALL TO ALL CLINICIANS WHO SEE INDIVIDUALS OR FAMILIES WITH DOWN SYNDROME TO ASK IF THEY WOULD BE PART OF RESEARCH COHORT. RUSS? >> YEAH, THAT WOULD BE ONE. THE OTHER IS EVEN WITHOUT CONTACTING THEM THERE'S A LOT OF ACCUMULATED EVIDENCE DATA IN EHRs, NETWORKS LIKE THE CTSAs, PCORnet AND CLAIMS DATA WHERE YOU COULD GET CLOSER TO AN EPIDEMIOLOGICAL POPULATION ESTIMATE, THAT WOULD BE ONE. AND THEN THE OTHER THING THAT I DON'T HAVE A CLEAR SENSE OF OF THAT'S UNIQUE ABOUT DS-INCLUDE IS YOU'RE NOT -- IN PRIOR EXAMPLES NOT JUST FUNDING A DOWN SYNDROME THING. YOU'RE FUNDING PEOPLE DOING OTHER WORK TO INCLUDE DOWN SYNDROME SO IT'S INTERESTING, YOU'RE CROSS-CUTTING WITH OTHER INSTITUTES. IT'S A NEAT OPPORTUNITY, MAKES IT HARD BUT DOES CREATE A NEED OPPORTUNITY TO BE LIKE A USE CASE FOR INTEROPERABILITY ACROSS BROADER PARTS OF THE NIH, THAN SOMETHING JUST FOCUSED ON CANCER OR A PARTICULAR CONDITION. >> TAKE ADVANTAGE OF THE MULTI-FACTORIAL NATURE OF DOWN SYNDROME TO BREAK DOWN SOME SILOS THAT CURRENTLY EXIST IN DIFFERENT DATA SETS, AND THE IDEA OF DOWN SYNDROME AS USE CASE FOR INTEROPERABILITY IS A POSITIVE ONE. >> AND YOU'VE BEEN WILLING TO FUND PEOPLE MEANS YOU'VE TOUCHED OTHER AREAS SO I WAS JUST THINKING ABOUT THE NIH, GOING TO FUND THE NEW MILD COGNITIVE IMPAIRMENT TRIAL, PREVENTIBLE, LED BY DUKE AND WAKE FOREST, AND SO WHILE IT MAY BE TARGETING MUCH OLDER GROUP, YOU MAY WANT TO SAY COULD I INCLUDE A DOWN SYNDROME POPULATION WHERE AGE CRITERIA IS MUCH LOWER, YOU KNOW, BUT THAT'S SOMETHING WHERE INSTEAD OF THINKING ABOUT WHAT AM I GOING TO DO AND MANDATE, YOU'RE BY YOUR NATURE TRYING TO CONNECT TO THOSE OTHER LARGE TRIALS AND THAT'S TO ME AT LEAST VERY INTERESTING. >> SOMEBODY MENTIONED EARLIER I THINK MAYBE IT WAS IN ONE OF THE GROUPS, NOT HERE, BUT COMMUNICATION PLAN ABOUT INCLUDE, WHAT INCLUDE IS TRYING TO ACCOMPLISH. SOUNDS LIKE WE COULD INCLUDE IN THIS COMMUNICATION PLAN SOME EXHORTATION TO REACH OUT TO PEOPLE RUNNING OTHER LARGE TRIALS THAT COLLECTIVELY WE HAPPEN TO KNOW ABOUT TO INCLUDE PATIENTS WITH DOWN SYNDROME MAYBE AS A STRATEGY. AND I WANTED TO GO BACK TO THE QUESTION ABOUT ASKING PATIENTS IF THEY WANT TO BE IN RESEARCH, SHOULD WE START ASKING ALL THE COHORTS TO INCORPORATE THAT QUESTION? >> (INAUDIBLE). >> SAY IT AGAIN. >> I THINK IT'S INCLUDED ALREADY IN MOST CONSENTS, AT LEAST OUR IRB, AND WE MANAGE SIX OTHER SITES, WE HAVE IT IN CONSENTS FOR OTHER STUDIES WHETHER PEOPLE WANT TO BE CONTACTED FOR FURTHER RESEARCH. >> YOU'RE DOING RESEARCH STUDY. I THINK WE'RE SUGGESTING -- >> CLINICAL. >> YEAH, DOWN SYNDROME CLINICS TO ASK THAT QUESTION TO START TO BUILD THE COHORT THAT WAY AS WELL THROUGH CLINICAL ASCERTAINMENT BECAUSE FAMILIES WHO COME TO DOWN SYNDROME SPECIALTY CLINICS TRUST THEIR PROVIDERS, TRUST CLINICIANS, AND IF THAT CLINICIAN SUGGESS RESEARCH MIGHT BE SOMETHING THAT COULD ENHANCE THE QUALITY OF LIFE FOR THEIR CHILD THEY WOULD BE ENTHUSIASTIC ABOUT THAT. >> ONE OF THE THINGS THAT CAME UP YESTERDAY IN THE DISCUSSION WAS TO START, YOU NEED A SURVEY OF WHAT COHORTS ARE OUT THERE AND WHAT DATA SETS THEY HAVE. AND ALL THAT. AND THAT THAT'S NOT BIG PIE IN THE SKY BUT I THINK IT'S A BASELINE. >> RIGHT. THAT'S PART OF THE FIRST GOAL WE'VE ARTICULATED. THAT'S GOING TO BE A DEFINITE THAT WE'LL FOLLOW UP. I SAW TRACY AND THEN PHIL. TRACY? >> SO ACTUALLY I WANTED TO GET BACK TO YOUR LAST POINT ABOUT THE BIRTH COHORT. I THINK THAT IT ACTUALLY COULD BE POSSIBLE, I MEAN IT MY BE A BIT PIE IN THE SKY BUT THERE ARE AS WE'VE DISCUSSED CONGENITAL DISORDER REGISTRIES IN ALMOST EVERY STATE OF THE UNITED STATES. YOU COULD WORK THROUGH A PLATFORM LIKE THE NATIONAL BIRTH DEFECTS PREVENTION NETWORK TO ENGAGE REGISTRARS IN EACH OF THE STATES, MOST OF THESE REGISTRIES ARE FUNDED BY CDC, AND THERE IS A SUBSET OF THEM THAT ARE ALREADY INVOLVED IN A LARGE CDC-FUNDED CASES CONTROL STUDY OF BIRTH DEFECT IT'S WRITE USED TO BE THE NATIONAL BIRTH DEFECT IT'S PREVENTION STUDY, NOW BD STEPS. THERE IS A PRECEDENT FOR ENGAGING FAMILIES, THROUGH THESE REGISTRIES, FOR STUDIES. I DON'T KNOW NECESSARILY WHAT THAT LOOKS LIKE BUT I'M JUST GETTING BACK TO THE POINT THAT THERE WOULD BE A POSSIBILITY FOR CREATING BIRTH COHORTS, EITHER IN MULTIPLE STATES OR ACROSS AT LEAST A HANDSFUL OF THEM OF CHILDREN BORN WITH DOWN SYNDROME. >> WE DID THAT WITH THE NATIONAL DOWN SYNDROME PROJECT, HE WORKED WITH THE CDC THROUGH THE SURVEILLANCE SYSTEM WITH SIX STATES. SECOND, I WAS GOING TO SAY FOR NIH WE NEED THE INFRASTRUCTURE. WE NEED THE MONEY TO BE ABLE TO DO THESE TYPE OF MONITORING SYSTEMS, IF YOU WANT TO REACH OUT TO THE CLINICIAN COHORTS, IT'S GREAT FOR THEM TO ASK WHO WANTS TO PARTICIPATE IN RESEARCH BUT WHERE DO THEY GO WITH THAT? THEY NEED TO HAVE A DATABASE THAT THEY CAN ENTER THAT INFORMATION INTO, THEY NEED SUPPORT TO DO IT BECAUSE CLINICIANS DON'T HAVE THE TIME. >> IT'S NOT THE SAME AS NECESSARILY HAVING THAT FULL INFRASTRUCTURE BUT STARTING POINT COULD BE, HEY, HERE IS ONE OPPORTUNITY ENROLL IN DS-CONNECT AND YOU WILL BE INVITED TO PARTICIPATE IN RESEARCH STUDIES. MANY OF YOU DO THAT AND THAT'S VERY APPRECIATED BUT I DON'T THINK IT'S EVERY CLINICIAN IN THE COUNTRY WHO SEES INDIVIDUALS WITH DOWN SYNDROME NECESSARILY PROMULGATES BUT IT'S A GOOD POINT. >> I THINK THE DOWN SYNDROME COMMUNITY MAY BENEFIT FROM CYSTIC FIBROSIS COMMUNITY, PARENTS ARE VERY INTO THEIR KIDS PARTICIPATING IN RESEARCH OR PROVIDING DATA FOR PROSPECTIVE EPIDEMIOLOGICAL STUDIES BUT I DON'T SEE THE SAME HAPPENING WITHOUT DISEASES. THEY HAVE A HUGE PUSH FROM THE FOUNDATION BUT IT'S DIFFERENT BUT SOMETHING LIKE THAT WOULD BE GREAT. >> WE HAVE A DIFFERENT SITUATION. CYSTIC FIBROSIS WAS ABLE TO START FROM THE GROUND UP AND WAS THE ONLY GAME IN TOWN AND WAS VERY EFFECTIVED A OF AT ENGAGING CLINICIANS AND MANY PEOPLE WORE BOTH HATS. WE HAVE MORE DISSEMINATED SYSTEM. ONE MORE QUESTION WITH TWO MINUTES LEFT, MAYBE TWO MORE COMMENTS, ONE OF THEM IS THAT ARE THERE SOME STAKEHOLDERS THAT WE SHOULD HAVE HAD AT THIS MEETING THAT WE DIDN'T OR PEOPLE THAT WE SHOULD ENGAGE MOVING FORWARD. I HEARD THAT OUR BLUE SKY IDEA OF ENROLLING EVERY NEWBORN WITH DOWN SYNDROME PROBABLY WOULD BENEFIT FROM PARTNERING WITH CDC AND TALKING TO SOME FOLKS THERE ABOUT SOME OF THEIR BIRTH DEFECTS REGISTRIES AS A STARTING POINT. ARE THERE OTHER GROUPS THAT SHOULD BE HERE, PEOPLE WE LEFT OUT? YEAH, JIM? >> YEAH, I THINK IF OUR GOAL IS TO SPEED NEW THERAPIES FOR PEOPLE WITH DOWN SYNDROME WE SHOULD BE INCLUDING REGULATORY EXPERTS LIKE FDA AND INCLUDING INDUSTRY SCIENTISTS AS WELL, INVITING THEM TO ENGAGE THEM. >> WE FELT WE WEREN'T READY BUT I KNOW WHEN WE SUPPORT A WORKSHOP IN MAY WHERE WE'RE GOING TO LOOK AT CLINICAL TRIALS, WE'RE CERTAINLY GOING TO BE INCLUDING THOSE PARTICIPANTS AS WELL, FDA, INDUSTRY SPONSORS AS WELL. YEAH, BRIAN? >> (INAUDIBLE). >> WHICH TYPES OF MEMBERS OF THE COMMUNITIES? I MEAN IT'S A BROAD COMMUNITY. WHO ARE WE MISSING THAT WE SHOULD HAVE HERE? >> (INAUDIBLE). >> CAN YOU TURN YOUR MIC ON? >> I WAS LUCKY TO HAVE DAVID AND OF COURSE I'M A MOM, REBECCA'S A MOM. IT WOULD HAVE BEEN NICE TO HAVE PARENT, FAMILY, SELF ADVOCATE IN THE SUBGROUPS TO BALANCE THE CONVERSATION, IS THAT WHAT YOU WERE SAYING? YEAH, YEAH. >> THANK YOU. THAT'S HELPFUL INFORMATION. AMY? >> A FEW THINGS CAME UP ABOUT DATA SHARING, SO I THINK HAVING BIOETHICISTS INVOLVED, WE TALKED ABOUT CONSENTING AND LANGUAGE AND THEN ALSO IMPORTANT ROLE THE NATIONAL LIBRARY OF MEDICINE WILL PLAY, COMMON DATA ELEMENTS WOULD BE GREAT. >> OKAY. WHO IS THE PERSON AT NLM YOU HAVE BEEN WORKING WITH? >> LIZ AMOS. A-M-O-S. >> GREAT, THANK YOU. ONE OTHER THOUGHT THAT CAME OUT AS WE WERE TRYING TO SUM EVERYTHING UP AND THINK ABOUT NEXT STEPS IS WHETHER IT WOULD BE VALUABLE TO GENERATE SOME SORT OF WHITE PAPER OR SUMMARY OF MEETING FOR PUBLICATION PURPOSES, EITHER THROUGH OUR PROMULGATING THROUGH NIH CHANNELS OR MEDICAL LITERATURE, A NICE BOOK END TO THE WORK STARTED IN 2010 WHEN WE FIRST HAD A WORKSHOP RELATED TO THESE ISSUES, I THINK THAT WE MAY -- FIRST OF ALL, DO PEOPLE THINK THAT'S A GOOD IDEA TO HAVE SOME SORT OF SUMMARY DOCUMENT COME OUT OF THIS WORK? AND THEN IF SO, WHO SHOULD THE AUDIENCE BE, AND WHAT SHOULD THE GOALS BE, AND WHO VOLUNTEERS TO LEAD WRITING ASPECTS OF THAT? THOUGHTS ABOUT THAT? AS SOON AS I ASK FOR -- WHAT IF I DIDN'T SAY, IF YOU SAY SOMETHING YOU'RE GOING TO GET TEAM? IF I SAID AND AUDIENCE AND PURPOSE FOR THE PAPER WHAT DO YOU ALL THINK SHOULD BE THE AREAS OF FOCUS FOR SUCH A PAPER? YEAH, PHIL? >> I WOULD BE HAPPY TO HELP. I DO THINK THE AUDIENCE WOULD JUST BE A GENERAL RESEARCH ONE, SO WOULDN'T NECESSARILY BE A SPECIALTY JOURNAL IN THAT REGARD. I THINK THAT HAVING A TABLE OF THE COHORTS THAT WE'VE TALKED ABOUT WOULD BE A NICE INCLUSION AND MAYBE SECTIONS OF THE MANUSCRIPT COULD BE BROKEN INTO BREAKOUT GROUPS WITH RECOMMENDATIONS FROM THOSE GROUPS. THAT'S JUST A THOUGHT. >> THOSE ARE GOOD THOUGHTS. >> ONE ADDITIONAL COMPONENT, IF THERE'S GOING TO BE BROAD-BASED KIND OF IMPETUS TO GET MORE PEOPLE ENROLLED, REACHING DIVERSE COMMUNITIES, ENGAGING MORE SCIENTISTS, ET CETERA, THINGS WE'VE ALL TALKED ABOUT, AGREEMENT UPON PROTOCOLS, STANDARDIZATION OF THINGS, WHAT IS OR ARE COGNITIVE BATTERIES, PROTOCOLS FOR COLLECTION, ALL OF THIS REALLY SHOULD BE WORKED OUT NOW BEFORE THESE GROUPS START BECAUSE WE'RE LOOKING AT TRYING TO DO THIS LOCALLY, I WANT TO MAKE SURE I HAVE A COMMON DATA ELEMENT COMPONENT THAT I CAN USE WHAT THIS GROUP TELLS ME TO USE INSTEAD OF HAVING SOME ESOTERIC SOMETHING. SO IF WE COULD GET THOSE SORTS OF WHITE PAPERS GENERATED, AT LEAST GENERATED, INCLUDING OUTREACH FOR DIVERSE COMMUNITIES AS ONE OF THOSE, I'M HAPPY TO HELP WRITE THAT. I'M NOT VOLUNTEERING -- I GUESS JUST DID. I THINK THAT WOULD GET IT GOING. >> I HEAR WHAT YOU'RE SAYING. THE WORKING GROUPS THAT FLOW OUT OF TODAY'S MEETING NEED TO GET GOING QUICKLY BECAUSE WE NEED THAT. THAT SHOULD BE OUR PRIORITY RIGHT NOW. YEAH, JIM? >> YEAH, I MEAN I THINK THERE'S A LOT OF DIFFERENT WAYS YOU COULD GO, WHETHER YOU SHOULD BE TARGETING FAMILIES WITH DOWN SYNDROME IN THE COMMUNITY FOR THE MOST PART THE COMMUNITY JUST WANTS TO KNOW THINGS ARE MOVE ARE FORWARD. WE WANT TO EVANGELIZE THE VALUE OF DOWN SYNDROME RESEARCH AND BRING IN AS MANY OTHER SCIENTISTS, MAYBE WHO ARE DOING RELATED THINGS, MAYBE HAVEN'T CONSIDERED THEIR WORK MIGHT APPLY TO DOWN SYNDROME SO I THINK IF WE THINK IN TERMS OF AN OUTREACH TO THE BROADER RESEARCH COMMUNITY AS WE SAID BEFORE THAT'S THE TARGET OF WHATEVER PAPERS SHOULD COME. OF COURSE WE WANT TO COMMUNICATE THAT TO THE FAMILIES, THAT THIS PAPER HAS COME OUT, BUT I THINK REALLY THE PURPOSE IS TO ENGAGE WITH A BROADER RESEARCH COMMUNITY TO GET AS MANY PEOPLE, MAKE THIS ROOM TWICE AS BIG NEXT TIME >> WE HAVE LIMITED BUDGET, BUT ASIDE FROM THAT. >> YOU KNOW WHAT I'M SAYING. >> YEAH, RIGHT. FOCUSING ON THE RESEARCHER COMMUNITY AND/OR CLINICIAN COMMUNITY, ADDITIONALLY, BUT ALS RELYING ON SOME OF OUR PARTNERS IN THE ADVOCACY COMMUNITIES TO HELP US PROMULGATE THIS FOR THE LAY AUDIENCE, FOR THE FAMILIES, FOR THE INDIVIDUALS THAT ARE IMPACTED SO I THINK THAT'S ALSO A GOOD STRATEGY. >> THE FIRST STEP WE HOPE WILL BE A PRESS RELEASE TOMORROW THAT WILL COME OUT AND EXPLAIN WHAT HAPPENED WITH THE FISCAL YEAR 19 PROGRAM AND THAT CAN CERTAINLY BE CERTAINLY BE DISSEMINATED THROUGH SOCIAL MEDIA CHANNELS. >> WE'RE GOING TO WRAP UP WITH FINAL THOUGHTS AND WE WANT TO THANK EVERYBODY SO MUCH FOR YOUR ENGAGEMENT, YOUR PARTICIPATION, FOR YOUR DOING THE HARD WORK IN THE BREAKOUT SESSIONS, WE HAVE A LOT TO THINK ABOUT AND PROCESS, AT NIH, AND WE CERTAINLY WILL BE REACHING BACK OUT TO YOU TO CONTINUE TO GET YOUR ENGAGEMENT AND INVOLVEMENT. SO THANK YOU ALL SO MUCH. WE APPRECIATE IT.