1
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So, do you

2
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have people, like running to
your service?

3
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I mean, it seems like this is a
real,

4
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You know, opportunity.

5
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If I'm an investigator in the
clinical center and I'm not a

6
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geneticist,

7
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but I'm collecting genetic
information

8
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for my particular question.

9
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It seems like I would send
all of my patients to you.

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Yeah, it's a really.
I think that's a great question.

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And I would say we're not the
only service

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that can do some of this.

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So the need for national,

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they have a centralized
sequencing core,

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and they will do all of these
things

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if you send all the things I
talked about,

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if they

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if they're the ones
who sequence your patients.

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But, you know, I think,

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it is not as heavily
utilized as I could have

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anticipated.

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And I think that's because many
people

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just really wish this wasn't a
problem.

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Yeah.

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And just yeah, many people just
really are

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trying to structure protocols in

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such a way that they can make an
argument

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where they don't have to do it.

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And I, I have some hypotheses
about that.

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But I think this is seen as,
I mean it's, it's inconvenient

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and it's inconvenient
that these findings exist, but

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it can be really beneficial to
people.

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But I mean, you know,
I would say back to that, that

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you write

35
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your team has the infrastructure
to take care of it.

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Right?

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So if I was an investigator
and I didn't have that resource,

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I could completely understand
what I would want to avoid it.

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So yeah, you know, and I think
the infrastructure is a huge

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thing, right?

41
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I mean,
I think it is completely

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unrealistic.

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Again, I've made the argument
that you do not need any special

44
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expertise

45
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to consent people to this idea.

46
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I really think like a chat bot
can do this.

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And I'm very excited by
research that's emerging for,

48
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you know,
how we can meet the consent

49
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needs.

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And my main, my main thought
with Ben's case that he

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presented was,

52
00:02:04,224 --> 00:02:06,769
you know, how confident is the
team

53
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in the robustness of their
consent process

54
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such that they were conscious
choice would be durable.

55
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Right.

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So anyway,
that's kind of a bit of a

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tangent, but,

58
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but it is, you know, the rest of
this

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process, I think, you know, it
does.

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Expertise is helpful.

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Yeah.

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So I really liked your comment
about,

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ticking the box

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versus, you know, so
so there's a consent form,

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someone takes a box
that's consent form gets.

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You know, put into redcap.

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In into Redcap or into a folder.

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And then

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you have some data.

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And so this is my general pitch
to everyone.

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Don't use consent forms
to collect important information

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related to the implementation
of your protocol.

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Right.

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Because you're going to end up
in situations which it sounds

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like

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you've had at least once
where someone check the box.

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No, I don't want it.

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But the data got to you and
you're.

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Now the. Participant in front of
you.

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Now what do I do? So,

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just a pitch.

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I, you know, I know that's
contrary

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to our current boilerplate, but.

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Or make sure you're collecting
it

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elsewhere.

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Yeah, just on it.

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I think the corollary to that,
right, is,

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please let us know if you move.

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Yes. Please keep us posted about
your

90
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about your health care, you
know,

91
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so if you really want to know,
you got to talk to people once a

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year

93
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at least, right?

94
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Send them a holiday card
or there's lots of ways to do

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this anyway.

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Yeah. Great.

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One quick question
and then I'll get to Brittany.

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So just to clarify for.

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All. Of so so the question from

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Sara is for clinical genomic
testing

101
00:03:52,532 --> 00:03:56,069
is a consent required prior
to testing being done.

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So we've been talking about it
in the

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research setting in the clinical
setting.

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Yeah. In the clinical world.
Absolutely.

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So you know if you every every
laboratory

106
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is going to have a consent

107
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form and in their consent form,
they're going to require,

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the clinical person to check

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the box about whether or not
they want

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secondary findings, and then
they will

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the consent form gets
transmitted

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along with the sample, etcetera,
etcetera.

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Yeah. Okay. Brittany go ahead.

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I was I was wondering if people
might not want secondary

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findings

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because it's just too abstract
at that time.

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So if I was asked like
do you want some genetic

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information

119
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that we might find, I'd probably
be like,

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I don't think so.

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Like but then if it was the case
of somebody who has that,

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was it, colorectal cancer
indicator

123
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and it's like,

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this is something that could
kill you

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unless, you know, this.

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Would there be a way to reach
out to them

127
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and be like, hey, we found
something,

128
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and we know you didn't
want the information, but this.

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Might save your life.

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Yeah.

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I mean, I think that's the
linchpin

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of the consent process, where,
again,

133
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I know I use the example of, you
know,

134
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has your doctor ever really sat
down

135
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and been like, hey, on your
lipid panel,

136
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I'm going to see your HDL and
your LDL,

137
00:05:10,756 --> 00:05:12,145
and here's what it might find.

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00:05:12,145 --> 00:05:13,613
Right. Like, no.

139
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But when we consent for this,
I don't think it needs to be

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complicated.

141
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The idea really just needs to be
conveyed,

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you know?

143
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Hey, we're going to do
some really extensive

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sequencing.

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That means reading through all
your genes.

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Sometimes we find out

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about a genetic predisposition
to a treatable or preventable

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disease.

149
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When we find something like
that,

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that makes us really
uncomfortable to know

151
00:05:32,799 --> 00:05:35,061
that about you
and not be able to share it with

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you.

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So our policy is that if we find
something

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that, you know, indicates

155
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that you're at an increased risk

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for something treatable or
preventable,

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we will share that with you.

158
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What do you think?

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Yeah.

160
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Right. So I
think it has to be concrete and

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examples.

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And I think you know again
I often give examples of you

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know

164
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hypercholesterolemia or heart
disease

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or cancer
as opposed to Alzheimer's

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disease.

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Parkinson's disease. Right.

168
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Yeah. No, but I think you're
right.

169
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I yeah, there's there's
certainly

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contextual elements to this for
sure.

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And I think it kind of brings
us back to Daniel's comment

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earlier about,

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you know, the sort of

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one day we might all want

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all of this information,
regardless

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of whether it's a predisposition

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or an autosomal dominant
or there's no treatment

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available.

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We we've changed our minds
before.

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Yeah. Oh, yeah.

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We might change our minds.

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You know, again.

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Yeah. Absolutely.

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Which is where, again,
I think outcomes research is so

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important

186
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because it, you know,

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we find that just because you
tell people

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this and I didn't really get
into this

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that much, but just because you
tell them

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doesn't mean they actually,

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you know, it saves their lives.

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There's
so many barriers, right? Right.

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And

194
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exactly.

195
00:06:57,017 --> 00:06:58,771
But that's like other health
care data,

196
00:06:58,771 --> 00:06:59,085
right?

197
00:06:59,085 --> 00:07:01,352
Like, I mean, every smoker has
been told

198
00:07:01,352 --> 00:07:03,223
by their doctor to quit smoking.

199
00:07:04,224 --> 00:07:06,026
So yeah.

200
00:07:06,026 --> 00:07:08,381
Oh, so
this is a really important

201
00:07:08,381 --> 00:07:09,095
question.

202
00:07:09,896 --> 00:07:13,633
What is Acmg findings mean?

203
00:07:13,633 --> 00:07:14,567
Yeah.

204
00:07:14,567 --> 00:07:15,135
Yeah.

205
00:07:15,135 --> 00:07:18,004
Again, I'm so glad they asked
because, you know, and I think

206
00:07:18,004 --> 00:07:19,539
and I'm not trying to make you
feel bad.

207
00:07:19,539 --> 00:07:22,008
Both Ben and I mentioned it,
but it is such a word.

208
00:07:22,008 --> 00:07:23,712
Salad. Like,
what on earth are we talking

209
00:07:23,712 --> 00:07:24,210
about here?

210
00:07:24,210 --> 00:07:25,512
So, acmg to break down

211
00:07:25,512 --> 00:07:27,176
that acronym is the American
College

212
00:07:27,176 --> 00:07:28,748
of Medical Genetics and
Genomics.

213
00:07:29,049 --> 00:07:31,429
So it's the,
you know, kind of the

214
00:07:31,429 --> 00:07:32,619
accrediting body

215
00:07:32,619 --> 00:07:35,425
for genetics geneticists
and genomic professionals in the

216
00:07:35,425 --> 00:07:35,622
US.

217
00:07:36,823 --> 00:07:39,959
And the list is, a.

218
00:07:40,327 --> 00:07:43,196
A set of genes

219
00:07:43,196 --> 00:07:46,633
where this body has said

220
00:07:46,633 --> 00:07:50,565
if you find a pathogenic
and that means disease causing

221
00:07:50,565 --> 00:07:51,137
variant

222
00:07:51,438 --> 00:07:54,725
in one of these genes,
you should tell someone about

223
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that

224
00:07:55,475 --> 00:07:59,212
because it has these attributes
that we've been talking about.

225
00:07:59,212 --> 00:08:00,613
It is treatable.

226
00:08:00,613 --> 00:08:03,049
It's preventable the disease.

227
00:08:03,049 --> 00:08:07,273
And importantly, we know a lot
about the genetics of that

228
00:08:07,273 --> 00:08:08,088
condition.

229
00:08:08,088 --> 00:08:10,990
Right. So these aren't
hypothetical.

230
00:08:10,990 --> 00:08:12,830
You know,
maybe there's an association

231
00:08:12,830 --> 00:08:13,460
between this

232
00:08:13,460 --> 00:08:16,529
variant and, you know, gluten
sensitivity.

233
00:08:16,529 --> 00:08:18,728
It's you know, there's really
rock

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00:08:18,728 --> 00:08:20,734
solid evidence to suggest that

235
00:08:21,101 --> 00:08:25,162
if you have this variant,
you could you could save your

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00:08:25,162 --> 00:08:25,605
life.