So, do you
have people, like running to your service?
I mean, it seems like this is a real,
You know, opportunity.
If I'm an investigator in the clinical center and I'm not a
geneticist,
but I'm collecting genetic information
for my particular question.
It seems like I would send all of my patients to you.
Yeah, it's a really. I think that's a great question.
And I would say we're not the only service
that can do some of this.
So the need for national,
they have a centralized sequencing core,
and they will do all of these things
if you send all the things I talked about,
if they
if they're the ones who sequence your patients.
But, you know, I think,
it is not as heavily utilized as I could have
anticipated.
And I think that's because many people
just really wish this wasn't a problem.
Yeah.
And just yeah, many people just really are
trying to structure protocols in
such a way that they can make an argument
where they don't have to do it.
And I, I have some hypotheses about that.
But I think this is seen as, I mean it's, it's inconvenient
and it's inconvenient that these findings exist, but
it can be really beneficial to people.
But I mean, you know, I would say back to that, that
you write
your team has the infrastructure to take care of it.
Right?
So if I was an investigator and I didn't have that resource,
I could completely understand what I would want to avoid it.
So yeah, you know, and I think the infrastructure is a huge
thing, right?
I mean, I think it is completely
unrealistic.
Again, I've made the argument that you do not need any special
expertise
to consent people to this idea.
I really think like a chat bot can do this.
And I'm very excited by research that's emerging for,
you know, how we can meet the consent
needs.
And my main, my main thought with Ben's case that he
presented was,
you know, how confident is the team
in the robustness of their consent process
such that they were conscious choice would be durable.
Right.
So anyway, that's kind of a bit of a
tangent, but,
but it is, you know, the rest of this
process, I think, you know, it does.
Expertise is helpful.
Yeah.
So I really liked your comment about,
ticking the box
versus, you know, so so there's a consent form,
someone takes a box that's consent form gets.
You know, put into redcap.
In into Redcap or into a folder.
And then
you have some data.
And so this is my general pitch to everyone.
Don't use consent forms to collect important information
related to the implementation of your protocol.
Right.
Because you're going to end up in situations which it sounds
like
you've had at least once where someone check the box.
No, I don't want it.
But the data got to you and you're.
Now the. Participant in front of you.
Now what do I do? So,
just a pitch.
I, you know, I know that's contrary
to our current boilerplate, but.
Or make sure you're collecting it
elsewhere.
Yeah, just on it.
I think the corollary to that, right, is,
please let us know if you move.
Yes. Please keep us posted about your
about your health care, you know,
so if you really want to know, you got to talk to people once a
year
at least, right?
Send them a holiday card or there's lots of ways to do
this anyway.
Yeah. Great.
One quick question and then I'll get to Brittany.
So just to clarify for.
All. Of so so the question from
Sara is for clinical genomic testing
is a consent required prior to testing being done.
So we've been talking about it in the
research setting in the clinical setting.
Yeah. In the clinical world. Absolutely.
So you know if you every every laboratory
is going to have a consent
form and in their consent form, they're going to require,
the clinical person to check
the box about whether or not they want
secondary findings, and then they will
the consent form gets transmitted
along with the sample, etcetera, etcetera.
Yeah. Okay. Brittany go ahead.
I was I was wondering if people might not want secondary
findings
because it's just too abstract at that time.
So if I was asked like do you want some genetic
information
that we might find, I'd probably be like,
I don't think so.
Like but then if it was the case of somebody who has that,
was it, colorectal cancer indicator
and it's like,
this is something that could kill you
unless, you know, this.
Would there be a way to reach out to them
and be like, hey, we found something,
and we know you didn't want the information, but this.
Might save your life.
Yeah.
I mean, I think that's the linchpin
of the consent process, where, again,
I know I use the example of, you know,
has your doctor ever really sat down
and been like, hey, on your lipid panel,
I'm going to see your HDL and your LDL,
and here's what it might find.
Right. Like, no.
But when we consent for this, I don't think it needs to be
complicated.
The idea really just needs to be conveyed,
you know?
Hey, we're going to do some really extensive
sequencing.
That means reading through all your genes.
Sometimes we find out
about a genetic predisposition to a treatable or preventable
disease.
When we find something like that,
that makes us really uncomfortable to know
that about you and not be able to share it with
you.
So our policy is that if we find something
that, you know, indicates
that you're at an increased risk
for something treatable or preventable,
we will share that with you.
What do you think?
Yeah.
Right. So I think it has to be concrete and
examples.
And I think you know again I often give examples of you
know
hypercholesterolemia or heart disease
or cancer as opposed to Alzheimer's
disease.
Parkinson's disease. Right.
Yeah. No, but I think you're right.
I yeah, there's there's certainly
contextual elements to this for sure.
And I think it kind of brings us back to Daniel's comment
earlier about,
you know, the sort of
one day we might all want
all of this information, regardless
of whether it's a predisposition
or an autosomal dominant or there's no treatment
available.
We we've changed our minds before.
Yeah. Oh, yeah.
We might change our minds.
You know, again.
Yeah. Absolutely.
Which is where, again, I think outcomes research is so
important
because it, you know,
we find that just because you tell people
this and I didn't really get into this
that much, but just because you tell them
doesn't mean they actually,
you know, it saves their lives.
There's so many barriers, right? Right.
And
exactly.
But that's like other health care data,
right?
Like, I mean, every smoker has been told
by their doctor to quit smoking.
So yeah.
Oh, so this is a really important
question.
What is Acmg findings mean?
Yeah.
Again, I'm so glad they asked because, you know, and I think
and I'm not trying to make you feel bad.
Both Ben and I mentioned it, but it is such a word.
Salad. Like, what on earth are we talking
about here?
So, acmg to break down
that acronym is the American College
of Medical Genetics and Genomics.
So it's the, you know, kind of the
accrediting body
for genetics geneticists and genomic professionals in the
US.
And the list is, a.
A set of genes
where this body has said
if you find a pathogenic and that means disease causing
variant
in one of these genes, you should tell someone about
that
because it has these attributes that we've been talking about.
It is treatable.
It's preventable the disease.
And importantly, we know a lot about the genetics of that
condition.
Right. So these aren't hypothetical.
You know, maybe there's an association
between this
variant and, you know, gluten sensitivity.
It's you know, there's really rock
solid evidence to suggest that
if you have this variant, you could you could save your
life.