Scott Weissman shares his journey of building a telehealth genetic counseling private practice, discussing the challenges of insurance contracts, licensing across states, and adapting to technological changes in cancer genetics. • Opened private practice in 2016 as a side business, now seeing 15-20 patients weekly • Despite having licenses in 25-26 states, establishing insurance contracts remains a major obstacle • Pivoted to 100% telehealth during the pandemic, offering after-hours and weekend appointments • Medicare recognition would be a game-changer for private practice genetic counselors in the US • Excited about emerging technologies like long-range sequencing that could "fill in the gaps" for what we've been missing • Works with the Norton and Elaine Sarnoff Center for Jewish Genetics providing education and carrier screening • Carrier screening has evolved from testing for 6 conditions to 267 conditions over two decades • Once gave Dr. Henry Lynch (namesake of Lynch syndrome) a "very small manicure" by cutting off his hangnail
Demystifying Genetics is sponsored by TrakGene https://www.trakgene.com/
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Episode Transcript
Available transcripts are automatically generated. Complete accuracy is not guaranteed.
Matt Burgess (00:01):
Hello, this is the Demystifying Genetics podcast
and I am your host, Dr MattBurgess.
I am a genetic counsellor inMelbourne, Australia, and in
this podcast I speak to geneticsprofessionals and others from
around the world on all thingsgenetics.
Today, my guest is ScottWiseman.
Scott is a genetic counsellorwith over 20 years experience.
(00:23):
He is based in Chicago,Illinois, and a big thank you to
Drap Gene, our sponsor.
Hello, Scott, and welcome toDemystifying Genetics.
Scott Weissman (00:37):
Hey, Matt, it's good to see you.
It's been a long time and Iappreciate the invite to spend
some time with you.
Matt Burgess (00:43):
Yeah, it has been a while.
How are you going?
Scott Weissman (00:46):
I'm going well.
A lot has changed work-wiseover the past few years since we
saw each other, but things aregood.
How about for you?
You're obviously back inAustralia.
Matt Burgess (00:58):
I'm back in Australia.
Things are changing, but nogoing really well.
First things first.
I know when we were sort ofsetting up a time to meet, we
were joking about havingcocktails and I saw that you
just had a sip from a big cup.
Do you have a cocktail in thatcup?
Scott Weissman (01:20):
I wish I did so.
My son came home from collegeand brought something with him
that has now infected me, sothis is more tea than actual
cocktails.
So no, I am.
I am breaking the promise, not100 percent.
Matt Burgess (01:38):
Oh, that's funny, because I'm having a nice cup of
tea as well.
Scott Weissman (01:41):
Perfect.
Matt Burgess (01:42):
Excellent.
Oh my God, I've got so manythings to ask you but, um, when
I think of you, I think ofprivate practice, and you sort
of have quite a successful umprivate practice in America.
Just wondering if you can sharesome information about that.
To start with, yeah, uh.
Scott Weissman (02:00):
So I, you know, I opened this private practice
in 2016.
And it was really for manyyears kind of a side business.
I always had a full-time job,and the reason that I started it
is that back in 2016, I wasworking for a genetic testing
laboratory on the customerservice side of things, and I
(02:21):
would get telephone calls fromnon-genetics providers that were
ordering testing and who wouldreally be pretty honest and say
well, look, I'm doing thisbecause you know, I've referred
my patients to the you know, theacademic center and they don't
come back, or I've referred mypatients and they can't be seen
for three or four months, orthere's nobody near me.
(02:43):
I just don't have anybody torefer to.
So they were always looking forhelp.
So it really seemed like anopportunity to try and kind of
develop something where therewould be greater access to
genetics healthcareprofessionals outside of the
typical hospital setting.
There had been several geneticcounselors, I think, that had
done private practices before me.
I'm not like the first personto do this and so in the state
(03:06):
of Illinois, which is where Ilive, we have licensure and our
licensure law allows us to ordergenetic testing.
So, kind of on a whim, I saidwhy can't I do this Like?
So I basically decided to openthis, this private practice.
In this private practice I hadhad a job as a program manager
at a local hospital where youknow I had dealt with budgets
(03:27):
and revenue and programschematics and billing and payer
mix, so, like I had enoughknowledge to kind of know a
little bit about the businessside of genetics as well as
working for the laboratory whereI felt like I could, you know,
I could do something like this,probably a little bit more
naively that, depending uponwhere your listeners are located
(03:48):
, um, what I wasn't able to dois establish in network
contracts with insurancecompanies, and I still haven't
been able to actually do thateight years later.
Uh, but that's what kind of ledme to opening this.
And then about a year ago, Idecided to make this my
full-time gig.
A year ago I decided to makethis my full-time gig and uh,
(04:11):
yeah, and, and um, I, you know Ibuilt it from kind of like
three or four patients a week tolike 15, sometimes 20 patients
a week.
Uh, and it's been, it's beenexciting.
I love being my own boss.
Uh, I love answering to no one,uh, so it's, it's been, it's
been nice, it's been quite anadventure and one that I'm glad
I kind of stuck with over theyears.
Matt Burgess (04:28):
And so you said that you're based in Illinois
With licensing and licensure andthat sort of thing.
Are you only able to seepatients that live in Illinois
as well, or can you see patientsoutside of state, or how does
that work?
Scott Weissman (04:45):
Yeah, that's a great question.
I don't know the exact number,but I think somewhere over 30
states right now requirelicensure in the US and my last
role before doing this privatepractice on my own was for a
telemedicine company.
So I have licenses in like 25,26 states, so I am able to see
patients in multiple statesaround the country.
(05:07):
Where there are limitations aresome states I cannot order
genetic testing, others I can.
So, depending upon wheresomebody lives, I can service
them to a point and get them totalk to their primary care
physician about ordering thetesting, or I can walk them
through the whole process.
Matt Burgess (05:30):
Yeah, and what do you think about starting a
private practice, like, do youfeel like I kind of feel like
you need to kind of do your timein a big hospital and sort of
learn genetic counselling,whereas I see that there are
some new genetic counsellorsthat are coming out that are
wanting to go straight intoprivate practice or straight
into the private sector?
Did you have sort of any sortof thoughts on that?
Scott Weissman (05:54):
I mean, I think for individuals that kind of
come straight from school intoprivate practice, it could be a
little bit more challengingunless you know they are getting
a lot of the business side intheir training.
You know I graduated in 2002 andthere was zero business, like
zero business training at alland a lot of this I just kind of
(06:17):
figured out on the job.
So if these individuals reallyaren't getting that business
side of what we do, I think itcould be hard.
Really aren't getting thatbusiness side of what we do?
I think it could be hard.
I also think that you knownewer grads are still kind of
maturing in their skill set,right, they're still kind of
fine tuning certain aspects ofthe role where that could be
again a little bit morechallenging.
(06:38):
But if they have, you know,good support from another
genetic counselor that they canbounce things off of.
If they're going to be workingwith a provider like in the
state of Washington, for example, you need a collaborative
agreement with a physician inorder to get a license and
practice you know there are waysthat you could potentially do
it with support.
Matt Burgess (06:59):
I do think, though , it probably is a little bit
more challenging.
It's interesting I'm teachingin a genetic counselling subject
at the moment and it's greatbecause my students are so
conscientious and they reallywant to do really well and it's
the first subject in theirmaster's program.
So I keep saying to them I'mnot expecting perfection, I just
(07:23):
want you to sort of practiceputting it together and then
over time, you know, youpractice and you get better, and
you get better and you getbetter.
And it kind of sounds like sortof that's what you're saying
with you know people comingstraight out and whether they're
able to go straight intobusiness or not.
Scott Weissman (07:43):
Yeah, absolutely .
And I just think, in terms ofthe variety of cases that you
see in training, there's stillprobably a lot of experiences, a
lot of conditions that youhaven't come in contact with yet
that you know.
If you get on your own and youhaven't seen it before like,
yeah, like you could do all theresearch, you could figure
everything out and be able tohandle it.
But sometimes there'sadditional help.
(08:04):
I mean, again, I've been doingthis 20 years.
I've been doing adult geneticsfor the full 20 years, and so I
started getting referrals froman IVF clinic where, you know, I
had to phone a friend not youknow quite often for these cases
because it's like, hey, I justwant to make sure I'm thinking
about this, right, I've neverdone this before.
Is you know, x, y and Z theright plan?
(08:24):
And so I have friends that kindof help me out in those
situations where I just knowlike, okay, I need help, and not
afraid to ask for the help whenit comes up.
So if somebody has that kind ofyou know, understanding of
their limitations and can, youknow again, phone a friend, I
don't think there's a reasonthey couldn't be successful.
Matt Burgess (08:44):
Yeah, that's funny , like I feel.
Like you know I did geneticcounseling at UD maybe a year or
two after you, so I've beenaround for about the same amount
of time and you know I workpredominantly in prenatal at the
moment.
But I had a case where it waslike my first ever referral for
Friedrich's ataxia and it's notsuch a rare condition in
(09:12):
genetics.
You know most geneticcounsellors would know about it
and I kind of thought, okay,well, it's recessive and I know
what that means, but I just kindof I needed to phone a friend.
I just was like am I thinkingabout this the right way, you
know?
Like on one hand it wasn't, itwas a pretty straightforward
case, it wasn't sort ofcomplicated.
But it's just when you're doingsomething for the first time
(09:32):
it's like am I thinking aboutthis the right way, you know?
Is there anything that I'mmissing?
Or you know and you know it wasjust funny like when you sort
of work by yourself, it's goodjust to like.
I think normally thoseconversations will just happen
over the table or, you know, inthe office.
But maybe that's something thatyou miss when you're sort of
working in isolation.
Scott Weissman (09:53):
Correct or it's going to get.
It's going to get scheduledwith that genetic counselor that
has the experience in that area, and maybe it's not going to
get scheduled with you to yourpoint, and so I think that's.
That's one of the fun thingsabout private practice is I
think it does open up theopportunity to potentially see a
lot of things that you maybewouldn't see in a cardio job, a
cancer job.
If you're just kind ofpigeonholed into one area,
(10:15):
you're going to get really goodin that one area but maybe lack
in others, and so this is a waythat really you can kind of see
a broad range of stuff, which,again, I think is is more fun
and can be challenging, but it'sum, it's something new every
day, which is great.
Matt Burgess (10:29):
Oh good, and it's funny, like, as you said, uh, we
didn't have any training inbusiness in our courses, um, but
obviously, opening a privatepractice it's your own business
and there's lots of skills thatyou need to sort of draw upon.
And you sort of said that,maybe naively, you started a
(10:49):
private practice.
I know, sort of outside of thegenetics world, a lot of people
when they're talking aboutsetting up their own business,
like a lot of the advice or thecommon theme is just to go for
it.
Like you know, it's better tosort of start and make mistakes
and learn from your mistakesthan to try and get it perfect.
Do you feel like you sort ofstarted your business at a good
(11:13):
time?
Or, you know, were you tryingto wait until you sort of had
everything lined up?
Scott Weissman (11:21):
Yeah, I definitely did have everything
lined up.
I was just kind of piecemealingit, a bunch of it together when
when I started.
But I also had about 14 yearsof experience at that point in
time.
So I had done a lot and knewkind of the things that I needed
needed to do to to get it going.
Yeah, again, I think.
(11:41):
Um, actually sorry, ask thequestion one more time, sorry.
Matt Burgess (11:47):
Um, I guess what I was thinking about is from a
business point of view,sometimes like I feel for myself
, like if I was starting abusiness.
I want to have it all sort ofum, sorted out and organized.
But I'll look at the advice isjust jump straight in.
Scott Weissman (12:04):
Yeah, so thank you.
So I think, jumping, well, youneed to have it somewhat figured
out right, Because there's areal world consequence where if
you make a mistake, if you screwup, if you give the wrong
advice, somebody can come andsue you for malpractice, right,
Like.
So this isn't like you'reselling cookies and you know
something bad doesn't work outPeople don't like your cookies
and you close shop.
There's potential for real harm.
(12:25):
So, understanding, having thatcomfort level to make sure that
you have kind of all of yourinsurance in place your
liability insurance, yourmalpractice insurance, making
sure that you have an EHR inplace, making sure that you have
HIPAA protections on your email, your phone system, your Texas,
and like all the things thatyou have HIPAA protections on
your email, your phone system,your Texas, and like all the
things that you really need tohave in this kind of business.
(12:48):
So you just I don't think thisis something that you can really
just kind of go for it Like youreally, I think, need a lot of
research in terms of what do Ineed to set up a in some sense
like a, a health clinic, right?
Like we are providinghealthcare to some extent, we're
not physicians.
There's our scope of practice,of what we can and can't do, but
it is still healthcare thatwe're providing and I still
(13:09):
believe we need to follow all ofthose typical rules you know,
making sure that you're doingyour HIPAA training once a year,
that you're documenting thatyou're doing your HIPAA training
, you know that you know whatkind of updates have happened
with it, Like all these things Ithink need to be figured out
before you just jump right in.
So a lot of this I had up frontand that had been slowly kind
of building on it as the waythat we practice change.
(13:32):
When I first started doing this,we weren't really texting with
patients typically, and nowthat's something that I think
most people are expecting you to.
Well, depending on your patientpopulation, they're expecting
some sort of text, communicationand understanding that you have
that set up correctly and youhave it on your website
correctly so that things are.
You know you're asking all theright questions for opting in
(13:52):
and opting out.
So, again, without I think,understanding this experience,
you could potentially stumble alittle bit and just hopefully
it's not something that you know.
Matt Burgess (14:02):
You're st stumbling in small things, not
major things that can, like, putyour license at risk, or you
know something more significantyeah, so you said with the sort
of the the legal side of things,in illinois you're able to
order genetic tests, but it'ssort of more of an issue with
reimbursement.
(14:22):
Um, I know that that is sort oflike a complicated thing in the
United States and it's reallystate-based.
So obviously people can comeand see you and just pay for a
test outright and I'm guessing anumber of your patients would
have private health insurance orhealth insurance through their
(14:43):
employer.
Does the new CPpt codes inamerica and that sort of side of
things.
Is that helping, um, businesseslike yours maybe being able to
be reimbursed by healthinsurance?
So I.
Scott Weissman (15:03):
The new code I do not believe helps genetic
counselors in private practicewho do not have contracts with
insurers.
I don't think the new code isan incentive for insurers to
establish in-network contractswith genetic counselors.
I think the biggest problemthat I am getting because I've
(15:25):
hired credentialing specialistslike I tried doing this on my
own.
It wasn't successful.
Then I hired a company to do it.
They had experience with this,wasn't successful.
Then I found somebody that hadtried it specifically for
genetic counselors and stillhaven't been successful.
And the issue that I'm kind ofhearing is well, we don't know
(15:45):
what to do with you becausethere aren't a lot of genetic
counselors that are doing this.
You don't have 50 statelicensure.
We don't want to figure it outstate by state.
So get back to us when you have50 state licensure or you know
we get the whole issue withMedicare being recognized by
Medicare.
If you get recognized atMedicare and you can bill
Medicare, come back to us.
So I really think the biggestthing for our profession if we
(16:10):
want more genetic counselors inprivate practice as a viable
alternative pathway for a careeris getting that bill passed in
the States where we can berecognized by Medicare and can
bill Medicare for our servicesin the States where we can be
recognized by Medicare and canbill Medicare for our services,
and then I think the dominoeswill hopefully start to come
down and the commercialinsurance, the private insurance
(16:31):
, will then start potentiallyaccepting those of us that are
doing this.
You know, on our own.
Matt Burgess (16:37):
I guess when you guys in America, you know, back
when you were setting up statelicensure, you know I feel like
things have evolved so much youprobably didn't think at the
time about how complicated itwas going to be and it kind of
sort of made sense oh yes, let'sjust do it on a state-by-state
basis.
And then all of a sudden youknow you have like a global
(16:59):
pandemic and everything'stelehealth, and you know if
you're seeing patients outsidethe state you need to be
licensed in each state yeah,absolutely well.
Scott Weissman (17:09):
Actually during the pandemic they got rid a lot
of that of the like you don'tneed to be licensed in the
states.
They were just allowing peopleto see patients regardless of
the license, because they justneeded people to be able to, you
know, service uh, patients.
You know, during that timeperiod, given how people were
trying to kind of quickly pivotto be able to do this, so there
were a lot of restrictions thatjust kind of went out the window
(17:30):
that have now kind of all beenput back into place.
But yeah, it's an issue, it'sdefinitely an issue.
Matt Burgess (17:39):
So talk to me about telehealth.
Is that a big component of yourprivate practice now?
Scott Weissman (17:46):
When I started the practice, I had a brick and
mortar office space that I loved.
I would get out of the housebecause I had been working from
home since 2013 in differentjobs.
All the jobs that I've had forabout the past 10 years have
been remote jobs.
So I found office space because, again, that's what people were
accustomed to and when thepandemic hits and again
(18:11):
obviously there was no sign interms of when is this going to
end and everybody was startingto have these experiences with
telemedicine and everybody andall the healthcare systems were
pivoting to it I basically gaveup my office space and do
completely telemedicine now andI really think people really
appreciate it, because I thinkone of the selling points if you
(18:36):
will, when people call and Itell them I don't take insurance
is well, I can see you afterhours and I can see you on a
Saturday and I can be flexibleto your schedule because, one,
you don't need to go anywhereand, two, you know I'm happy to
make it work on a timetable thatworks for you, so you don't
have to miss work If you got topick your kids up for school,
whatever it is, and I thinkpeople think about that
(18:56):
differently and go.
Oh, that's actually a nicelittle benefit here.
I'm willing to pay out ofpocket to do the consultation
because you're going to meet mewhere I need to be met.
So I think it is a lot ofpeople like it.
And with the way that thelaboratories work in the States
and all the software andeverything like, again, you can
really do everything that youneed to do remotely, especially
(19:20):
with the laboratories offeringlike home phlebotomies, like
that really makes a bigdifference, especially if you
want to do, you know, for canceryou want to do DNA and RNA
based testing.
You know you, you can still getit done.
Even I work with.
I work with a retinalspecialist who refers a lot of
60 plus individuals who againlove the idea of telemedicine.
(19:42):
They don't have to, you know,they have difficulty with vision
, they don't have to go to thedoctor.
So it really it is beneficialto a lot of people, especially
people that have genetic issuesor have concerns about genetic
issues.
Matt Burgess (19:55):
Yeah, and so was it.
Do you think it was like a slowevolution, or was it the fact
that there was the globalpandemic and then we all sort of
felt more comfortable being intelehealth, or do you kind of
see like a trend or a patternthere?
Scott Weissman (20:12):
Yeah, I think it was the pandemic a hundred
percent.
I was offering telemedicinewhen I had my office space and
people said no, I want to comeand see you, I want to meet you
in person and I'm happy to driveGreat.
Now, when I tell people it'stelemedicine, nobody says well,
can I, can I come and see you?
They don't even ask.
(20:32):
So I really think the pandemicmade made the big difference
here and people are just this isnow it's part of life and this
is the way people get gethealthcare.
Matt Burgess (20:45):
Yeah, yeah, it's funny, even just from like a, um
, a recording, a podcast pointof view before.
Uh, covid, like I used to gointo the studio and you know
like it was complicated and likethe microphone set up and then,
um, my sound engineerafterwards was like, oh no, we
just recorded on zoom, likethat's fine, so it's just funny.
Scott Weissman (21:05):
You get a fancy microphone that you know, really
you know gets all the pops andeverything and you're good to go
.
It's amazing.
Matt Burgess (21:12):
So I guess when I think of you in genetics, I
think of cancer genetics and Ithink that you sort of
predominantly are in the cancerspace.
How has cancer geneticcounselling changed for you over
the last couple of decades?
Scott Weissman (21:31):
How has it changed?
Let's see.
So I think the first is havingthose discussions about like DNA
versus RNA testing, certainlypanel size, even though most
people will ultimately say, well, you know, tell me what you
think I need and I'm good withit, and you know the VUS rates,
(21:53):
I think starting to go really godown has been kind of big, big
changes over the years.
I'm really kind of lookingforward to like long, long read
sequencing and optical genomemapping to potentially identify
families that we know thatthere's something going on and
we've tested everybody and youknow we don't find anything.
(22:13):
I'm just wondering how much youknow methylation is going to
show up in, you know, theseinversions and other things that
we just haven't been able todetect all these years.
So I've seen some small changesbut I'm really excited for, I
think, what's coming up and howthat's going to impact what
we're doing and how we're doingit.
Matt Burgess (22:29):
Yeah, I feel like as a lay person, you kind of
think okay, I'm having a genetictest, I give a sample, my
genetic counsellor is going toorganise the test, and it's sort
of like a binary thing, likeyou find something or you don't
find something.
And if you find something,maybe it's disease causing or
maybe it's not.
(22:49):
But you know, it kind of is abit more complicated than that.
You know it kind of is a bitmore complicated than that and
like, even like, as you say, youknow, traditionally we just did
testing on DNA, but now we'reable to test RNA and even sort
(23:14):
of just explaining to patientsokay, well, there's like a
different genetic mechanism anddoing a different type of
genetic test can sort of help.
Have you got a lot ofexperience in sort of testing
RNA and sort of adding that intothe mix?
Scott Weissman (23:22):
Yeah, and honestly I still do it, but I
can't say that I've gotten aresult that has been influenced
by RNA in any way, shape or form.
And I know the data is kind ofmixed.
But you know the couple oflaboratories that are offering
it.
I think they have difference ofopinions of how valuable it is.
Again, I don't know how much ofthat is just marketing and
market share for tests, but youknow, I think if there is a new
(23:45):
technology that can yieldanything that adds additional
detection, I think it'ssomething that we're kind of
obligated to discuss with ourpatients, to say, yeah, there is
this other option, here's howit would work, here's what it
would mean, and it's the latest,greatest kind of
state-of-the-art.
You know insurance isn't goingto cover it or whatever it may
be, but I do think we have anobligation to at least kind of
(24:06):
bring it up with people, just sothey know what all of their
options are.
Matt Burgess (24:10):
Yeah, yeah, I think I'm just thinking of all
of the times I I mean, I've notordered RNA testing clinically
for six or seven years, but Iremember I did have a family
like I sent a sample to one laband they found something that
may have been a disease causingchange.
But they said we really need todo RNA testing.
(24:33):
And it's funny, like from DNA,like a DNA point of view, you
can take blood in a tube and thetube can sit on the bench for
like days or weeks and it'squite stable for testing.
But RNA it was like, oh no, itneeds to go in a special tube,
it needs to get to the labwithin a day or two.
And so it was kind of fun doingthe logistics.
(24:56):
And in Australia I'm on the EastCoast and then the lab that I
was using for the RNA testingwas on the West Coast and just
trying to sort of coordinatethat.
Like I mean, it was just a bitof fun because it was something
novel and we were able to getthe result from RNA and then.
(25:17):
So I got that result and I gaveit back to the original lab and
then they were able to changetheir classification, so they
were able to say that thischange that they found, actually
, you know, there's enoughevidence now to say that it is
disease causing and then to beable to organise that for the
family.
You know, I was really proud ofmyself.
I thought, yeah, this is reallycool right.
Scott Weissman (25:40):
I mean that's, I think, why a lot of us do this.
I mean it's these are puzzlesand we want to help these
individuals solve the puzzles,if we can.
And they want to know, and youknow, you need to know all the
pieces and how to potentiallyput them together.
And, uh, you know, maybe theanalogies are completely working
where do you want, like, allthe pieces in the box, or do you
only want to work with some ofthe pieces in the box to put
(26:01):
your puzzle together?
And so I think you know, again,having those conversations with
people about you know whatthese technologies can do and
how they work is cool, and Ithink a lot of people you know
at least they pretend thatthey're interested.
They ultimately may not, maynot be, but it seems like they
are so it's kind of funny.
Matt Burgess (26:20):
Yeah, like are they?
Or it's just like well, no, youdo the test, you work it out
and then get back to me whenwe've got an answer right,
exactly when I get the.
Scott Weissman (26:28):
Well, you just tell me what to do and I'm going
to do it.
I go okay, we can, we'll, we'llkind of speed this up then at
this point.
Matt Burgess (26:33):
So, yeah, yeah yeah, yeah.
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(26:56):
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(27:17):
So you mentioned a couple ofthings there that I don't know
much about at all.
So maybe you can sort of tellme or educate me a little bit.
You know the first one was longrange sequencing.
Like I sort of had a bit of alook in the literature and I
think Nature sort of called itone of the most exciting sort of
(27:42):
new techniques to come out lastyear.
Is that something that you arereally familiar with or like?
Have you used this technology?
Scott Weissman (27:53):
I mean, I have ordered it.
There's a laboratory in thestates that does like these, um,
triple repeat disorder panelsfor people that have like
ataxias, and I believe that theyare doing it to be able to kind
of help, uh, get triple repeatsizes more exact and to be able
to do it in in these largepanels.
Uh.
But no, I, I have been hearingabout these things for the past
(28:15):
year and then at the NSGC annualconference they had a pre-con
that spoke specifically aboutthese new technologies, and so
my takeaway from the long rangesequencing is that it is going
to be able to pick up issues oflike methylation disorders,
(28:36):
methylation issues that may becausing problems.
It may be able to pick upinversions.
It may be able to pick up maybemore deep and tronic things and
with the optical genome mappinglike that, should really be
able to help pick up again lotsof different CNVs, but
specifically like the reallysmall CNVs that we know that
next generation sequencing ismissing, like the one exon CNVs
(29:00):
that most laboratories will saythat they can't pick up, that
they can pick up those that theycan potentially pick up
inversions.
So I just it sounds like it'sgoing to basically fill in the
gaps, for what we've beenmissing all these years, and the
examples that they really gavewere more in the pediatric space
, but you know, again it seemslike it would be these tests
would be really applicable tothe adult space as well.
Matt Burgess (29:23):
Wow Okay.
Scott Weissman (29:24):
That really is exciting.
Matt Burgess (29:25):
Because I know you know sometimes if you're seeing
a family and there's one personyou know like there's a child
that obviously has you know somemajor medical issues person you
know like there's a child thatobviously has you know some
major medical issues, whetheryou know intellectual disability
or you know different symptoms,and you do a test and you don't
find anything, it's like, well,you know, maybe it wasn't
(29:45):
genetic or you know, maybethere's some other sort of
reason.
But then I'm sure that you'vehad families like me where you
know every single person has hadbreast cancer and you've done
all of the testing and you can'tfind an answer.
It's like, ok, there must besomething genetic going on here.
Scott Weissman (30:01):
Yeah, yeah, we are just missing it.
Like we know there'slimitations in the technology,
we know are missing it, and thatwas a handful of the examples
that they gave for the longrange sequencing in the
pediatric space where, you know,they got a hit.
They got one mutation in thegene that fit with the phenotype
but the other one was wasnormal.
But when they did the longrange they found that there was
a methylation issue and so itwas like two different hits,
(30:24):
essentially two differentgenetic hits that you know we're
just not typically doing a lotof methylation testing, unless
one.
It's a disease where we knowmethylation is a is a mechanism
of disease.
Or, you know, in the cancerspace, you know testing, you
know tumors to see, you know ifthey have Lynch or not.
But, um, uh, yeah, so it's.
I just think it's.
It's really exciting and youknow, as you know, you're well
(30:47):
aware, right, it tends to be thelaboratories that are driving
the new technologies into thespace and you're going to have
the early adopters and thenit'll probably hopefully just be
, you know, standard practice inthe next three to five years.
I just hope that, you know, wedon't necessarily, at least in
the States, have to do all theinsurance stuff where the
laboratories aren't going tocover it.
It's experimental.
(31:08):
The laboratories end up eatingcosts.
The laboratories then haveproblems paying bills, and what
we're seeing in the States nowwith kind of a lot of the
transitions of the laboratoriesyou know being bought and sold
and laying off geneticcounselors.
Matt Burgess (31:23):
It's just kind of a crazy time.
Scott Weissman (31:24):
Yeah, yeah, your medical system is a little bit
complex, complex, I think, is anice way of saying that it sucks
.
Matt Burgess (31:30):
But yes, yes, but yes, yes, so you're also
involved as a consultant geneticcounselor at a local Jewish
genetic center.
Can you tell us about yourinvolvement there?
Scott Weissman (31:45):
Yeah, absolutely so.
I am a genetic counselor forthe Norton and Elaine Sarnoff
Center for Jewish Genetics.
So this was an organizationthat was founded back in 1999 to
educate the community, educatehealthcare providers, educate
clergy about genetic conditionsthat were more commonly found in
the Jewish population AshkenaziJews, spartic Jews, mizrahi
(32:08):
Jews, so lots of differentJewish populations.
Then we were just trying tofigure this out.
We don't know exactly, butsomewhere in the early 2000s, in
addition to doing the education, we started offering kind of no
to low cost carrier screeningwhere individuals or couples,
either both Jewish or onepartner's Jewish so it could be
(32:32):
interfaith couples Basically wewanted to make sure that they
could get access for carrierscreening at like.
I said no to low cost, so theywould pay like a nominal fee to
participate in the program andthen we would order carrier
screening and basically makesure that they have zero
out-of-pocket expense.
(32:52):
And so this has evolved.
So I went through this programand I started having my kids
back in the early 2000s I thinkI was tested for six conditions
and now we're up to 267.
We're doing one of the labslike specific panels that's been
enriched for conditions thatare more commonly seen in the
Jewish population.
So I help administer thecarrier screening program as
(33:15):
well as go out and do educationfor the community.
So for me this is kind of likea full circle moment, because I
worked with this organization, Iwas on their board as kind of
like a medical expert for manyyears and now I'm able to serve
them in a different purpose.
So it's something that I reallyappreciate the opportunity to
do and again kind of love goingout and speaking to the
(33:37):
community about carrierscreening.
You know, obviously, differenthereditary cancer syndromes.
One of our founders is verypassionate about dystonia.
The DYT1 gene is more prevalentin the Jewish population, so we
talked a little bit aboutneurologic issues as well.
So we cover everything andbasically people in the
community can get access to agenetic counselor and have any
(33:59):
questions answered.
Matt Burgess (34:01):
You know at any time basically I think the
genetic testing in the jewishcommunity for people that may
have um jewish ancestry isreally interesting and it's a um
a fascinating sort of way tosee over the past couple of
decades, how the ideas abouttesting has changed.
(34:24):
Um like I, as, just as agenetic counsellor, um working
in Melbourne where there's alarge Jewish population, and I
sort of understanding andlearning sort of what is
relevant, what's not relevantand um you know what's
(34:46):
appropriate and not appropriate,and just it.
It's really interesting becauseit's a combination of culture
and religion and science and allof it is kind of relevant, but
sometimes it's not, like I don'tknow what I'm trying to explain
, but yeah, it's just veryinteresting well well, yeah,
(35:06):
because when you, you know,jewish is an ethnicity, right,
it's, it's, it's a religion.
Scott Weissman (35:12):
But how we kind of, I think, relates jewish
genetics, how you know, we'retypically talking about people
of eastern european descent whowere founded from very small
population.
You know, these individuals thatkind of survived the diaspora
and the Holocaust and have movedkind of all over the world and
again, like a lot of populations, I think, generations back,
were, you know, reproducing withother people of Jewish descent.
(35:35):
So you have these things right,these, you know, tasacs and
BRCA, flourishing and growing inthe populations.
And you know, I often one ofthe questions that we kind of
often get is well, I don'tunderstand why being Jewish
makes a difference.
And so there's just a littlebit of education that we do
about some of these events andhow these things became more
prominent and why essentially welook for them.
(35:57):
But again, I think to yourpoint, like it's something that
I think that we're doing now,regardless of background, kind
of moving away from that, youknow, ethnic specific testing
and really doing more of thepan-ethnic, uh, carrier
screening at least.
Again, that's what we're doinghere.
I'm assuming you guys are doingdown there.
Matt Burgess (36:14):
Yeah, yeah, I think um, I mean part of that, I
think, was a financial thing,like we can't offer testing or
we need to be wise or smart withhow we're offering testing.
So if someone comes from aparticular background, we should
do that sort of testing,whereas now, you know, testing
is much cheaper and it's quickerand we kind of just, you know,
(36:34):
give everyone a reallycomprehensive test.
Um, yeah, you know, like,because someone can be just as
you have the same amount ofJewish ancestry, but, you know,
maybe they're Catholic andthey've got three Catholic
grandfathers and it was one oftheir mothers that was Jewish,
compared to someone who isculturally Jewish and grew up in
(36:58):
the Jewish community and haslike four Jewish grandparents.
So they sort of presentdifferently but they could be
the same.
I think, like from a geneticspoint of view, it doesn't really
matter.
Scott Weissman (37:11):
Right, exactly Like, in other words, just
something.
So people will say, well, mymother wasn't Jewish, so I'm not
Jewish, because in the Jewishculture, to be birthed, to be
Jewish, you need to be birthedthrough a woman who is jewish.
But you know again, as we know,you know, paternal genetics are
just as important as maternalgenetics.
So it's like no, even thoughyou know your, your, your
(37:32):
paternal, your father is jewish,it's still, it's still relevant
.
Like, yes, you may not identifyas as jewish for that reason,
but genetically it still is, isrelevant.
Matt Burgess (37:43):
So that is one of those cultural, cultural issues
that you were talking about yeah, another interesting change
that I saw um, you know, I knowthat genetic testing happened in
the schools and we sort of wereorganizing testing for like 15
or 16 year olds and hoping thatthey would remember this, you,
(38:03):
you know, 15 years later, whenthey were thinking of having
kids.
And you know, like 15 years or10 years in genetics is a really
long time, and I guess it'ssort of, you know, the idea has
sort of changed that, you know,instead of testing in the
schools, let's just test peoplewhen they're ready to have
babies.
Is that sort of like a changethat you've seen as well?
Scott Weissman (38:27):
Well, they still so, they in the Jewish
population.
There are still screeningprograms that do it in the
school.
So there's the Doryer Sharonprogram, which is again in the
States and in Israel forindividuals who are Orthodox,
where they test them young, theytest them for a smaller number
of conditions and then they keepthat information.
It is basically masked to theindividuals and then when these
(38:51):
individuals are talking about,you know, being betrothed or two
families coming together tobring their kids together, they
will go to the matchmaker andthey will look at the genetic
results and basically say, yes,they're a match or no, they're
not.
But they still don't reallyknow what their carriers for and
exactly why they weren't amatch or what the condition was.
(39:11):
Even so, there is still some ofthat going on, you know, in the
Orthodox population.
Matt Burgess (39:18):
Yeah, yeah, it's interesting.
It makes me think of, likemedical paternalism and how much
information that we give peopleand how much we don't, and I
know, sort of, um, I feel like Iwant to give everybody all of
the information I want them tounderstand.
(39:39):
And one of the um carrierproducts that I use at moment
and it's not targeted for Jewishpeople, it's, you know, open
for everybody or people with anysort of background instead of
telling people what they arecarriers for, they've sort of
gone back to just saying whetherthey're a high, you know,
(40:00):
they're a carrier couple or not,and it tells them what
condition that they're a carriercouple or not.
And it says, like it tells themwhat condition that they're a
carrier for.
But if, um, you know it's sortof marketed, as this is a test
for couples and, uh, you know,there's a panel of 500 or a
thousand different geneticconditions or genes, um, but
yeah, it's sort of just givingresults for a couple and I don't
(40:27):
know, I guess, if the coupleare staying together and, um,
yeah, that's the test that Iwant.
It's probably a good thing.
Scott Weissman (40:37):
Is it partly that they're trying to avoid
having to deal with some of thedominant risks like ATM and
breast cancer or GBA andParkinson's disease, like?
Are they trying to kind ofavoid having to have those kind
of conversations where they justwant to focus on family
planning and don't want to talkabout that, because that's
interesting?
Matt Burgess (40:56):
Yeah, I don't know .
I might have to sort of get intouch with the lab and sort of
find out exactly what theirmotivation was Like.
I know that it sort of camefrom research and so there was
less dollars to do the testing,so it was cheaper for them to
kind of just identify carriercouples.
But now that it's sort of movedover to clinical and you know
(41:20):
it's commercial, you're payingfor it, but they still sort of
have the same sort of resultguidelines.
So yeah, I'm not really surethere.
Scott Weissman (41:28):
So it's interesting.
So, if I'm understanding peoplein Australia, they can either
maybe have a test that is paidfor by the government as part of
the social health care, or theycould pay for a broader test on
their own that has moreconditions.
So there's kind of two waysthey could go about it test on
their own.
Matt Burgess (41:45):
That has more conditions.
So there's kind of two waysthey could go about it.
Yeah, what happened was look,so we have universal healthcare
and we've got Medicare and Imean, yeah, I was going to say
it's complicated, but maybe it'snot as complicated as in the
United States.
But you know, if you see agenetic service, usually you
need to have a referral fromyour doctor and then Medicare
(42:07):
pays for the appointment and ifyou meet criteria for testing,
you get tested.
So you know, like if you've gota family history, of Huntington
disease or you know syndrome.
We would usually pay.
You know the test was covered.
However, for whatever reason,the carrier screening was not
(42:35):
covered and it really had to besomething that people paid for
themselves.
And I think about five, six,seven years ago there was a girl
in Sydney who was born to acouple and she ended up dying
before her first birthday fromspinal muscular atrophy and her
parents.
So her name was Mackenzie andso her parents made or came up
(42:58):
with this campaign and called itMackenzie's Mission and through
their sort of advocating to thegovernment they were able to,
and along with sort of geneticsprofessionals in Australia, they
were able to come up with agovernment-funded genetic test.
So I think that they needed tooffer testing to 10,000 couples
(43:22):
in Australia.
So that was still very much inthe research space.
But from that the governmentsaid, okay, well, we will offer
government funded testing, butonly for cystic fibrosis, spinal
muscular atrophy and fragile X.
So we do have funded testingnow in Australia, but it really
is only for three conditions andif people want a bigger panel
(43:46):
they need to pay it'sinteresting.
Scott Weissman (43:50):
Um, there seems like a whole road to go down
with that and like no, no sicklecell, like it's.
Matt Burgess (43:57):
It's interesting yeah, I mean, I guess yeah,
there are like most GPs if whenyou say that you're thinking of
having babies, they'll do anelectrophoresis, you know, to
sort of see if people arecarriers of different blood
disorders.
But yeah, anyway, complicated.
Scott Weissman (44:19):
I think that is more complicated than here.
Okay, so we have mutual issues.
That's good to know it's notjust one-sided.
Yeah, that's great.
Matt Burgess (44:29):
So it's been lovely chatting to you today and
I want to let you go, but therewas just one funny sort of
story that I heard on the GreatBar and I wanted to ask you
about it.
Oh, my God, okay, I heard thatit was Dr Lynch that you were
working with and maybe you gavehim, um, a pedicure or a
(44:50):
manicure or something.
Scott Weissman (44:53):
Uh, yeah, um.
So, uh, dr Lynch uh started theprogram that uh I worked at
when I first came out of schoolat it was Evanston Hospital in
Illinois and he would come uponce a month because he had a
research study that he was doingon the APC R1307K variants.
Matt Burgess (45:15):
This is Dr Henry.
Scott Weissman (45:16):
Lynch, this is Dr Henry Lynch, correct?
This is the guy.
And so I would get to see himonce a month and he would, you
know, he would tell theseamazing stories, some of which I
can never repeat.
I mean, it was just, it wasfascinating to learn from him.
And then one day he came in andhe had a giant, um, a giant
hangnail on his thumb and he'slike, uh, scott, I need you to
(45:40):
go get a pair of scissors andcut this off.
And I was like Dr Lynch, I'mnot cutting that off of your
hand.
I'm like, I'm not going to bethe guy that cuts off Dr Lynch's
thumb, like that's not how Iwant to go down in history in
the genetics community.
He's like, it's not a big deal,you won't cut my thumb off, I
promise it'll be fine.
So I got a giant pair ofscissors and cut this hangnail
(46:07):
off of his thumb.
Thankfully, I did not cut histhumb off, but yeah, I gave
Henry Lynch a very, uh, very, uhshort manicure, oh, wow.
Matt Burgess (46:13):
So, yeah, that, um , it was, um, you know something
that, uh, I get to tell onoccasion, uh, but yeah, oh,
that's funny because, um, Iguess for the listeners who
don't know um, dr lynch haslynch syndrome named after him.
And when I went to universityand I'm sure it's probably
similar for you I learned thatthere was this condition called
(46:36):
um hnpcc, or hereditary umnon-polyposis colorectal cancer,
and then it sort of changed, oryou know the the idea was that
it should be named Dr Leap.
So I guess I don't know toomuch of the story, um, but yeah,
that's my very superficialunderstanding of it.
Scott Weissman (46:54):
Yeah, well, I think you know, I think it was a
couple of things.
I think there was one.
Uh, we began to recognize thatthere were like these Lynch
families that clearly hadmutations in the mismatch repair
genes in that cam Right.
And then Heather Hample and hercolleagues identified the
biolelic mutations in the tumorsthat were making it look like.
(47:16):
So there was like anotherpresentation.
And then there were stillfamilies that had colon cancer
in them but weren't Lynch and itwas a study out of Mayo that
called it like familialcolorectal cancer type X.
I don't know if you rememberthat, that study from way back
when, and I think there was aconcerted effort as a way to
acknowledge all the researchthat Dr Lynch did.
(47:37):
You know over the, you know 50,60 years, that you know when
you identify a mismatch repairgene, like that is Lynch
syndrome and everything else isnot, and so I think again, a way
to recognize him.
I'm not sure if that wasspearheaded by, like the
collaborative groups of America.
I'm not sure how that, reallywho spearheaded that, but I
think at least in the Statesthat's how we typically do it.
(47:57):
Now it's Lynch or it's not.
Matt Burgess (47:59):
Wow, and you cut his nail.
Scott Weissman (48:02):
Yeah, and I gave him a very small manicure, so
yeah, Excellent.
Matt Burgess (48:06):
Well, what a beautiful place to finish up our
very interesting conversation.
Scott Weissman (48:16):
Thank you so much for being a guest on
Demystifying Genetics, Matt.
It's good seeing you again andI appreciate the invitation to
come and talk to you today.
Thank you so much.
Hello, this is the Demystifying Genetics podcast
and I am your host, Dr MattBurgess.
I am a genetic counsellor inMelbourne, Australia, and in
this podcast I speak to geneticsprofessionals and others from
around the world on all thingsgenetics.
Today, my guest is ScottWiseman.
Scott is a genetic counsellorwith over 20 years experience.
(00:23):
He is based in Chicago,Illinois, and a big thank you to
Drap Gene, our sponsor.
Hello, Scott, and welcome toDemystifying Genetics.
Scott Weissman (00:37):
Hey, Matt, it's good to see you.
It's been a long time and Iappreciate the invite to spend
some time with you.
Matt Burgess (00:43):
Yeah, it has been a while.
How are you going?
Scott Weissman (00:46):
I'm going well.
A lot has changed work-wiseover the past few years since we
saw each other, but things aregood.
How about for you?
You're obviously back inAustralia.
Matt Burgess (00:58):
I'm back in Australia.
Things are changing, but nogoing really well.
First things first.
I know when we were sort ofsetting up a time to meet, we
were joking about havingcocktails and I saw that you
just had a sip from a big cup.
Do you have a cocktail in thatcup?
Scott Weissman (01:20):
I wish I did so.
My son came home from collegeand brought something with him
that has now infected me, sothis is more tea than actual
cocktails.
So no, I am.
I am breaking the promise, not100 percent.
Matt Burgess (01:38):
Oh, that's funny, because I'm having a nice cup of
tea as well.
Scott Weissman (01:41):
Perfect.
Matt Burgess (01:42):
Excellent.
Oh my God, I've got so manythings to ask you but, um, when
I think of you, I think ofprivate practice, and you sort
of have quite a successful umprivate practice in America.
Just wondering if you can sharesome information about that.
To start with, yeah, uh.
Scott Weissman (02:00):
So I, you know, I opened this private practice
in 2016.
And it was really for manyyears kind of a side business.
I always had a full-time job,and the reason that I started it
is that back in 2016, I wasworking for a genetic testing
laboratory on the customerservice side of things, and I
(02:21):
would get telephone calls fromnon-genetics providers that were
ordering testing and who wouldreally be pretty honest and say
well, look, I'm doing thisbecause you know, I've referred
my patients to the you know, theacademic center and they don't
come back, or I've referred mypatients and they can't be seen
for three or four months, orthere's nobody near me.
(02:43):
I just don't have anybody torefer to.
So they were always looking forhelp.
So it really seemed like anopportunity to try and kind of
develop something where therewould be greater access to
genetics healthcareprofessionals outside of the
typical hospital setting.
There had been several geneticcounselors, I think, that had
done private practices before me.
I'm not like the first personto do this and so in the state
(03:06):
of Illinois, which is where Ilive, we have licensure and our
licensure law allows us to ordergenetic testing.
So, kind of on a whim, I saidwhy can't I do this Like?
So I basically decided to openthis, this private practice.
In this private practice I hadhad a job as a program manager
at a local hospital where youknow I had dealt with budgets
(03:27):
and revenue and programschematics and billing and payer
mix, so, like I had enoughknowledge to kind of know a
little bit about the businessside of genetics as well as
working for the laboratory whereI felt like I could, you know,
I could do something like this,probably a little bit more
naively that, depending uponwhere your listeners are located
(03:48):
, um, what I wasn't able to dois establish in network
contracts with insurancecompanies, and I still haven't
been able to actually do thateight years later.
Uh, but that's what kind of ledme to opening this.
And then about a year ago, Idecided to make this my
full-time gig.
A year ago I decided to makethis my full-time gig and uh,
(04:11):
yeah, and, and um, I, you know Ibuilt it from kind of like
three or four patients a week tolike 15, sometimes 20 patients
a week.
Uh, and it's been, it's beenexciting.
I love being my own boss.
Uh, I love answering to no one,uh, so it's, it's been, it's
been nice, it's been quite anadventure and one that I'm glad
I kind of stuck with over theyears.
Matt Burgess (04:28):
And so you said that you're based in Illinois
With licensing and licensure andthat sort of thing.
Are you only able to seepatients that live in Illinois
as well, or can you see patientsoutside of state, or how does
that work?
Scott Weissman (04:45):
Yeah, that's a great question.
I don't know the exact number,but I think somewhere over 30
states right now requirelicensure in the US and my last
role before doing this privatepractice on my own was for a
telemedicine company.
So I have licenses in like 25,26 states, so I am able to see
patients in multiple statesaround the country.
(05:07):
Where there are limitations aresome states I cannot order
genetic testing, others I can.
So, depending upon wheresomebody lives, I can service
them to a point and get them totalk to their primary care
physician about ordering thetesting, or I can walk them
through the whole process.
Matt Burgess (05:30):
Yeah, and what do you think about starting a
private practice, like, do youfeel like I kind of feel like
you need to kind of do your timein a big hospital and sort of
learn genetic counselling,whereas I see that there are
some new genetic counsellorsthat are coming out that are
wanting to go straight intoprivate practice or straight
into the private sector?
Did you have sort of any sortof thoughts on that?
Scott Weissman (05:54):
I mean, I think for individuals that kind of
come straight from school intoprivate practice, it could be a
little bit more challengingunless you know they are getting
a lot of the business side intheir training.
You know I graduated in 2002 andthere was zero business, like
zero business training at alland a lot of this I just kind of
(06:17):
figured out on the job.
So if these individuals reallyaren't getting that business
side of what we do, I think itcould be hard.
Really aren't getting thatbusiness side of what we do?
I think it could be hard.
I also think that you knownewer grads are still kind of
maturing in their skill set,right, they're still kind of
fine tuning certain aspects ofthe role where that could be
again a little bit morechallenging.
(06:38):
But if they have, you know,good support from another
genetic counselor that they canbounce things off of.
If they're going to be workingwith a provider like in the
state of Washington, for example, you need a collaborative
agreement with a physician inorder to get a license and
practice you know there are waysthat you could potentially do
it with support.
Matt Burgess (06:59):
I do think, though , it probably is a little bit
more challenging.
It's interesting I'm teachingin a genetic counselling subject
at the moment and it's greatbecause my students are so
conscientious and they reallywant to do really well and it's
the first subject in theirmaster's program.
So I keep saying to them I'mnot expecting perfection, I just
(07:23):
want you to sort of practiceputting it together and then
over time, you know, youpractice and you get better, and
you get better and you getbetter.
And it kind of sounds like sortof that's what you're saying
with you know people comingstraight out and whether they're
able to go straight intobusiness or not.
Scott Weissman (07:43):
Yeah, absolutely .
And I just think, in terms ofthe variety of cases that you
see in training, there's stillprobably a lot of experiences, a
lot of conditions that youhaven't come in contact with yet
that you know.
If you get on your own and youhaven't seen it before like,
yeah, like you could do all theresearch, you could figure
everything out and be able tohandle it.
But sometimes there'sadditional help.
(08:04):
I mean, again, I've been doingthis 20 years.
I've been doing adult geneticsfor the full 20 years, and so I
started getting referrals froman IVF clinic where, you know, I
had to phone a friend not youknow quite often for these cases
because it's like, hey, I justwant to make sure I'm thinking
about this, right, I've neverdone this before.
Is you know, x, y and Z theright plan?
(08:24):
And so I have friends that kindof help me out in those
situations where I just knowlike, okay, I need help, and not
afraid to ask for the help whenit comes up.
So if somebody has that kind ofyou know, understanding of
their limitations and can, youknow again, phone a friend, I
don't think there's a reasonthey couldn't be successful.
Matt Burgess (08:44):
Yeah, that's funny , like I feel.
Like you know I did geneticcounseling at UD maybe a year or
two after you, so I've beenaround for about the same amount
of time and you know I workpredominantly in prenatal at the
moment.
But I had a case where it waslike my first ever referral for
Friedrich's ataxia and it's notsuch a rare condition in
(09:12):
genetics.
You know most geneticcounsellors would know about it
and I kind of thought, okay,well, it's recessive and I know
what that means, but I just kindof I needed to phone a friend.
I just was like am I thinkingabout this the right way, you
know?
Like on one hand it wasn't, itwas a pretty straightforward
case, it wasn't sort ofcomplicated.
But it's just when you're doingsomething for the first time
(09:32):
it's like am I thinking aboutthis the right way, you know?
Is there anything that I'mmissing?
Or you know and you know it wasjust funny like when you sort
of work by yourself, it's goodjust to like.
I think normally thoseconversations will just happen
over the table or, you know, inthe office.
But maybe that's something thatyou miss when you're sort of
working in isolation.
Scott Weissman (09:53):
Correct or it's going to get.
It's going to get scheduledwith that genetic counselor that
has the experience in that area, and maybe it's not going to
get scheduled with you to yourpoint, and so I think that's.
That's one of the fun thingsabout private practice is I
think it does open up theopportunity to potentially see a
lot of things that you maybewouldn't see in a cardio job, a
cancer job.
If you're just kind ofpigeonholed into one area,
(10:15):
you're going to get really goodin that one area but maybe lack
in others, and so this is a waythat really you can kind of see
a broad range of stuff, which,again, I think is is more fun
and can be challenging, but it'sum, it's something new every
day, which is great.
Matt Burgess (10:29):
Oh good, and it's funny, like, as you said, uh, we
didn't have any training inbusiness in our courses, um, but
obviously, opening a privatepractice it's your own business
and there's lots of skills thatyou need to sort of draw upon.
And you sort of said that,maybe naively, you started a
(10:49):
private practice.
I know, sort of outside of thegenetics world, a lot of people
when they're talking aboutsetting up their own business,
like a lot of the advice or thecommon theme is just to go for
it.
Like you know, it's better tosort of start and make mistakes
and learn from your mistakesthan to try and get it perfect.
Do you feel like you sort ofstarted your business at a good
(11:13):
time?
Or, you know, were you tryingto wait until you sort of had
everything lined up?
Scott Weissman (11:21):
Yeah, I definitely did have everything
lined up.
I was just kind of piecemealingit, a bunch of it together when
when I started.
But I also had about 14 yearsof experience at that point in
time.
So I had done a lot and knewkind of the things that I needed
needed to do to to get it going.
Yeah, again, I think.
(11:41):
Um, actually sorry, ask thequestion one more time, sorry.
Matt Burgess (11:47):
Um, I guess what I was thinking about is from a
business point of view,sometimes like I feel for myself
, like if I was starting abusiness.
I want to have it all sort ofum, sorted out and organized.
But I'll look at the advice isjust jump straight in.
Scott Weissman (12:04):
Yeah, so thank you.
So I think, jumping, well, youneed to have it somewhat figured
out right, Because there's areal world consequence where if
you make a mistake, if you screwup, if you give the wrong
advice, somebody can come andsue you for malpractice, right,
Like.
So this isn't like you'reselling cookies and you know
something bad doesn't work outPeople don't like your cookies
and you close shop.
There's potential for real harm.
(12:25):
So, understanding, having thatcomfort level to make sure that
you have kind of all of yourinsurance in place your
liability insurance, yourmalpractice insurance, making
sure that you have an EHR inplace, making sure that you have
HIPAA protections on your email, your phone system, your Texas,
and like all the things thatyou have HIPAA protections on
your email, your phone system,your Texas, and like all the
things that you really need tohave in this kind of business.
(12:48):
So you just I don't think thisis something that you can really
just kind of go for it Like youreally, I think, need a lot of
research in terms of what do Ineed to set up a in some sense
like a, a health clinic, right?
Like we are providinghealthcare to some extent, we're
not physicians.
There's our scope of practice,of what we can and can't do, but
it is still healthcare thatwe're providing and I still
(13:09):
believe we need to follow all ofthose typical rules you know,
making sure that you're doingyour HIPAA training once a year,
that you're documenting thatyou're doing your HIPAA training
, you know that you know whatkind of updates have happened
with it, Like all these things Ithink need to be figured out
before you just jump right in.
So a lot of this I had up frontand that had been slowly kind
of building on it as the waythat we practice change.
(13:32):
When I first started doing this,we weren't really texting with
patients typically, and nowthat's something that I think
most people are expecting you to.
Well, depending on your patientpopulation, they're expecting
some sort of text, communicationand understanding that you have
that set up correctly and youhave it on your website
correctly so that things are.
You know you're asking all theright questions for opting in
(13:52):
and opting out.
So, again, without I think,understanding this experience,
you could potentially stumble alittle bit and just hopefully
it's not something that you know.
Matt Burgess (14:02):
You're st stumbling in small things, not
major things that can, like, putyour license at risk, or you
know something more significantyeah, so you said with the sort
of the the legal side of things,in illinois you're able to
order genetic tests, but it'ssort of more of an issue with
reimbursement.
(14:22):
Um, I know that that is sort oflike a complicated thing in the
United States and it's reallystate-based.
So obviously people can comeand see you and just pay for a
test outright and I'm guessing anumber of your patients would
have private health insurance orhealth insurance through their
(14:43):
employer.
Does the new CPpt codes inamerica and that sort of side of
things.
Is that helping, um, businesseslike yours maybe being able to
be reimbursed by healthinsurance?
So I.
Scott Weissman (15:03):
The new code I do not believe helps genetic
counselors in private practicewho do not have contracts with
insurers.
I don't think the new code isan incentive for insurers to
establish in-network contractswith genetic counselors.
I think the biggest problemthat I am getting because I've
(15:25):
hired credentialing specialistslike I tried doing this on my
own.
It wasn't successful.
Then I hired a company to do it.
They had experience with this,wasn't successful.
Then I found somebody that hadtried it specifically for
genetic counselors and stillhaven't been successful.
And the issue that I'm kind ofhearing is well, we don't know
(15:45):
what to do with you becausethere aren't a lot of genetic
counselors that are doing this.
You don't have 50 statelicensure.
We don't want to figure it outstate by state.
So get back to us when you have50 state licensure or you know
we get the whole issue withMedicare being recognized by
Medicare.
If you get recognized atMedicare and you can bill
Medicare, come back to us.
So I really think the biggestthing for our profession if we
(16:10):
want more genetic counselors inprivate practice as a viable
alternative pathway for a careeris getting that bill passed in
the States where we can berecognized by Medicare and can
bill Medicare for our servicesin the States where we can be
recognized by Medicare and canbill Medicare for our services,
and then I think the dominoeswill hopefully start to come
down and the commercialinsurance, the private insurance
(16:31):
, will then start potentiallyaccepting those of us that are
doing this.
You know, on our own.
Matt Burgess (16:37):
I guess when you guys in America, you know, back
when you were setting up statelicensure, you know I feel like
things have evolved so much youprobably didn't think at the
time about how complicated itwas going to be and it kind of
sort of made sense oh yes, let'sjust do it on a state-by-state
basis.
And then all of a sudden youknow you have like a global
(16:59):
pandemic and everything'stelehealth, and you know if
you're seeing patients outsidethe state you need to be
licensed in each state yeah,absolutely well.
Scott Weissman (17:09):
Actually during the pandemic they got rid a lot
of that of the like you don'tneed to be licensed in the
states.
They were just allowing peopleto see patients regardless of
the license, because they justneeded people to be able to, you
know, service uh, patients.
You know, during that timeperiod, given how people were
trying to kind of quickly pivotto be able to do this, so there
were a lot of restrictions thatjust kind of went out the window
(17:30):
that have now kind of all beenput back into place.
But yeah, it's an issue, it'sdefinitely an issue.
Matt Burgess (17:39):
So talk to me about telehealth.
Is that a big component of yourprivate practice now?
Scott Weissman (17:46):
When I started the practice, I had a brick and
mortar office space that I loved.
I would get out of the housebecause I had been working from
home since 2013 in differentjobs.
All the jobs that I've had forabout the past 10 years have
been remote jobs.
So I found office space because, again, that's what people were
accustomed to and when thepandemic hits and again
(18:11):
obviously there was no sign interms of when is this going to
end and everybody was startingto have these experiences with
telemedicine and everybody andall the healthcare systems were
pivoting to it I basically gaveup my office space and do
completely telemedicine now andI really think people really
appreciate it, because I thinkone of the selling points if you
(18:36):
will, when people call and Itell them I don't take insurance
is well, I can see you afterhours and I can see you on a
Saturday and I can be flexibleto your schedule because, one,
you don't need to go anywhereand, two, you know I'm happy to
make it work on a timetable thatworks for you, so you don't
have to miss work If you got topick your kids up for school,
whatever it is, and I thinkpeople think about that
(18:56):
differently and go.
Oh, that's actually a nicelittle benefit here.
I'm willing to pay out ofpocket to do the consultation
because you're going to meet mewhere I need to be met.
So I think it is a lot ofpeople like it.
And with the way that thelaboratories work in the States
and all the software andeverything like, again, you can
really do everything that youneed to do remotely, especially
(19:20):
with the laboratories offeringlike home phlebotomies, like
that really makes a bigdifference, especially if you
want to do, you know, for canceryou want to do DNA and RNA
based testing.
You know you, you can still getit done.
Even I work with.
I work with a retinalspecialist who refers a lot of
60 plus individuals who againlove the idea of telemedicine.
(19:42):
They don't have to, you know,they have difficulty with vision
, they don't have to go to thedoctor.
So it really it is beneficialto a lot of people, especially
people that have genetic issuesor have concerns about genetic
issues.
Matt Burgess (19:55):
Yeah, and so was it.
Do you think it was like a slowevolution, or was it the fact
that there was the globalpandemic and then we all sort of
felt more comfortable being intelehealth, or do you kind of
see like a trend or a patternthere?
Scott Weissman (20:12):
Yeah, I think it was the pandemic a hundred
percent.
I was offering telemedicinewhen I had my office space and
people said no, I want to comeand see you, I want to meet you
in person and I'm happy to driveGreat.
Now, when I tell people it'stelemedicine, nobody says well,
can I, can I come and see you?
They don't even ask.
(20:32):
So I really think the pandemicmade made the big difference
here and people are just this isnow it's part of life and this
is the way people get gethealthcare.
Matt Burgess (20:45):
Yeah, yeah, it's funny, even just from like a, um
, a recording, a podcast pointof view before.
Uh, covid, like I used to gointo the studio and you know
like it was complicated and likethe microphone set up and then,
um, my sound engineerafterwards was like, oh no, we
just recorded on zoom, likethat's fine, so it's just funny.
Scott Weissman (21:05):
You get a fancy microphone that you know, really
you know gets all the pops andeverything and you're good to go
.
It's amazing.
Matt Burgess (21:12):
So I guess when I think of you in genetics, I
think of cancer genetics and Ithink that you sort of
predominantly are in the cancerspace.
How has cancer geneticcounselling changed for you over
the last couple of decades?
Scott Weissman (21:31):
How has it changed?
Let's see.
So I think the first is havingthose discussions about like DNA
versus RNA testing, certainlypanel size, even though most
people will ultimately say, well, you know, tell me what you
think I need and I'm good withit, and you know the VUS rates,
(21:53):
I think starting to go really godown has been kind of big, big
changes over the years.
I'm really kind of lookingforward to like long, long read
sequencing and optical genomemapping to potentially identify
families that we know thatthere's something going on and
we've tested everybody and youknow we don't find anything.
(22:13):
I'm just wondering how much youknow methylation is going to
show up in, you know, theseinversions and other things that
we just haven't been able todetect all these years.
So I've seen some small changesbut I'm really excited for, I
think, what's coming up and howthat's going to impact what
we're doing and how we're doingit.
Matt Burgess (22:29):
Yeah, I feel like as a lay person, you kind of
think okay, I'm having a genetictest, I give a sample, my
genetic counsellor is going toorganise the test, and it's sort
of like a binary thing, likeyou find something or you don't
find something.
And if you find something,maybe it's disease causing or
maybe it's not.
(22:49):
But you know, it kind of is abit more complicated than that.
You know it kind of is a bitmore complicated than that and
like, even like, as you say, youknow, traditionally we just did
testing on DNA, but now we'reable to test RNA and even sort
(23:14):
of just explaining to patientsokay, well, there's like a
different genetic mechanism anddoing a different type of
genetic test can sort of help.
Have you got a lot ofexperience in sort of testing
RNA and sort of adding that intothe mix?
Scott Weissman (23:22):
Yeah, and honestly I still do it, but I
can't say that I've gotten aresult that has been influenced
by RNA in any way, shape or form.
And I know the data is kind ofmixed.
But you know the couple oflaboratories that are offering
it.
I think they have difference ofopinions of how valuable it is.
Again, I don't know how much ofthat is just marketing and
market share for tests, but youknow, I think if there is a new
(23:45):
technology that can yieldanything that adds additional
detection, I think it'ssomething that we're kind of
obligated to discuss with ourpatients, to say, yeah, there is
this other option, here's howit would work, here's what it
would mean, and it's the latest,greatest kind of
state-of-the-art.
You know insurance isn't goingto cover it or whatever it may
be, but I do think we have anobligation to at least kind of
(24:06):
bring it up with people, just sothey know what all of their
options are.
Matt Burgess (24:10):
Yeah, yeah, I think I'm just thinking of all
of the times I I mean, I've notordered RNA testing clinically
for six or seven years, but Iremember I did have a family
like I sent a sample to one laband they found something that
may have been a disease causingchange.
But they said we really need todo RNA testing.
(24:33):
And it's funny, like from DNA,like a DNA point of view, you
can take blood in a tube and thetube can sit on the bench for
like days or weeks and it'squite stable for testing.
But RNA it was like, oh no, itneeds to go in a special tube,
it needs to get to the labwithin a day or two.
And so it was kind of fun doingthe logistics.
(24:56):
And in Australia I'm on the EastCoast and then the lab that I
was using for the RNA testingwas on the West Coast and just
trying to sort of coordinatethat.
Like I mean, it was just a bitof fun because it was something
novel and we were able to getthe result from RNA and then.
(25:17):
So I got that result and I gaveit back to the original lab and
then they were able to changetheir classification, so they
were able to say that thischange that they found, actually
, you know, there's enoughevidence now to say that it is
disease causing and then to beable to organise that for the
family.
You know, I was really proud ofmyself.
I thought, yeah, this is reallycool right.
Scott Weissman (25:40):
I mean that's, I think, why a lot of us do this.
I mean it's these are puzzlesand we want to help these
individuals solve the puzzles,if we can.
And they want to know, and youknow, you need to know all the
pieces and how to potentiallyput them together.
And, uh, you know, maybe theanalogies are completely working
where do you want, like, allthe pieces in the box, or do you
only want to work with some ofthe pieces in the box to put
(26:01):
your puzzle together?
And so I think you know, again,having those conversations with
people about you know whatthese technologies can do and
how they work is cool, and Ithink a lot of people you know
at least they pretend thatthey're interested.
They ultimately may not, maynot be, but it seems like they
are so it's kind of funny.
Matt Burgess (26:20):
Yeah, like are they?
Or it's just like well, no, youdo the test, you work it out
and then get back to me whenwe've got an answer right,
exactly when I get the.
Scott Weissman (26:28):
Well, you just tell me what to do and I'm going
to do it.
I go okay, we can, we'll, we'llkind of speed this up then at
this point.
Matt Burgess (26:33):
So, yeah, yeah yeah, yeah.
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(26:56):
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(27:17):
So you mentioned a couple ofthings there that I don't know
much about at all.
So maybe you can sort of tellme or educate me a little bit.
You know the first one was longrange sequencing.
Like I sort of had a bit of alook in the literature and I
think Nature sort of called itone of the most exciting sort of
(27:42):
new techniques to come out lastyear.
Is that something that you arereally familiar with or like?
Have you used this technology?
Scott Weissman (27:53):
I mean, I have ordered it.
There's a laboratory in thestates that does like these, um,
triple repeat disorder panelsfor people that have like
ataxias, and I believe that theyare doing it to be able to kind
of help, uh, get triple repeatsizes more exact and to be able
to do it in in these largepanels.
Uh.
But no, I, I have been hearingabout these things for the past
(28:15):
year and then at the NSGC annualconference they had a pre-con
that spoke specifically aboutthese new technologies, and so
my takeaway from the long rangesequencing is that it is going
to be able to pick up issues oflike methylation disorders,
(28:36):
methylation issues that may becausing problems.
It may be able to pick upinversions.
It may be able to pick up maybemore deep and tronic things and
with the optical genome mappinglike that, should really be
able to help pick up again lotsof different CNVs, but
specifically like the reallysmall CNVs that we know that
next generation sequencing ismissing, like the one exon CNVs
(29:00):
that most laboratories will saythat they can't pick up, that
they can pick up those that theycan potentially pick up
inversions.
So I just it sounds like it'sgoing to basically fill in the
gaps, for what we've beenmissing all these years, and the
examples that they really gavewere more in the pediatric space
, but you know, again it seemslike it would be these tests
would be really applicable tothe adult space as well.
Matt Burgess (29:23):
Wow Okay.
Scott Weissman (29:24):
That really is exciting.
Matt Burgess (29:25):
Because I know you know sometimes if you're seeing
a family and there's one personyou know like there's a child
that obviously has you know somemajor medical issues person you
know like there's a child thatobviously has you know some
major medical issues, whetheryou know intellectual disability
or you know different symptoms,and you do a test and you don't
find anything, it's like, well,you know, maybe it wasn't
(29:45):
genetic or you know, maybethere's some other sort of
reason.
But then I'm sure that you'vehad families like me where you
know every single person has hadbreast cancer and you've done
all of the testing and you can'tfind an answer.
It's like, ok, there must besomething genetic going on here.
Scott Weissman (30:01):
Yeah, yeah, we are just missing it.
Like we know there'slimitations in the technology,
we know are missing it, and thatwas a handful of the examples
that they gave for the longrange sequencing in the
pediatric space where, you know,they got a hit.
They got one mutation in thegene that fit with the phenotype
but the other one was wasnormal.
But when they did the longrange they found that there was
a methylation issue and so itwas like two different hits,
(30:24):
essentially two differentgenetic hits that you know we're
just not typically doing a lotof methylation testing, unless
one.
It's a disease where we knowmethylation is a is a mechanism
of disease.
Or, you know, in the cancerspace, you know testing, you
know tumors to see, you know ifthey have Lynch or not.
But, um, uh, yeah, so it's.
I just think it's.
It's really exciting and youknow, as you know, you're well
(30:47):
aware, right, it tends to be thelaboratories that are driving
the new technologies into thespace and you're going to have
the early adopters and thenit'll probably hopefully just be
, you know, standard practice inthe next three to five years.
I just hope that, you know, wedon't necessarily, at least in
the States, have to do all theinsurance stuff where the
laboratories aren't going tocover it.
It's experimental.
(31:08):
The laboratories end up eatingcosts.
The laboratories then haveproblems paying bills, and what
we're seeing in the States nowwith kind of a lot of the
transitions of the laboratoriesyou know being bought and sold
and laying off geneticcounselors.
Matt Burgess (31:23):
It's just kind of a crazy time.
Scott Weissman (31:24):
Yeah, yeah, your medical system is a little bit
complex, complex, I think, is anice way of saying that it sucks
.
Matt Burgess (31:30):
But yes, yes, but yes, yes, so you're also
involved as a consultant geneticcounselor at a local Jewish
genetic center.
Can you tell us about yourinvolvement there?
Scott Weissman (31:45):
Yeah, absolutely so.
I am a genetic counselor forthe Norton and Elaine Sarnoff
Center for Jewish Genetics.
So this was an organizationthat was founded back in 1999 to
educate the community, educatehealthcare providers, educate
clergy about genetic conditionsthat were more commonly found in
the Jewish population AshkenaziJews, spartic Jews, mizrahi
(32:08):
Jews, so lots of differentJewish populations.
Then we were just trying tofigure this out.
We don't know exactly, butsomewhere in the early 2000s, in
addition to doing the education, we started offering kind of no
to low cost carrier screeningwhere individuals or couples,
either both Jewish or onepartner's Jewish so it could be
(32:32):
interfaith couples Basically wewanted to make sure that they
could get access for carrierscreening at like.
I said no to low cost, so theywould pay like a nominal fee to
participate in the program andthen we would order carrier
screening and basically makesure that they have zero
out-of-pocket expense.
(32:52):
And so this has evolved.
So I went through this programand I started having my kids
back in the early 2000s I thinkI was tested for six conditions
and now we're up to 267.
We're doing one of the labslike specific panels that's been
enriched for conditions thatare more commonly seen in the
Jewish population.
So I help administer thecarrier screening program as
(33:15):
well as go out and do educationfor the community.
So for me this is kind of likea full circle moment, because I
worked with this organization, Iwas on their board as kind of
like a medical expert for manyyears and now I'm able to serve
them in a different purpose.
So it's something that I reallyappreciate the opportunity to
do and again kind of love goingout and speaking to the
(33:37):
community about carrierscreening.
You know, obviously, differenthereditary cancer syndromes.
One of our founders is verypassionate about dystonia.
The DYT1 gene is more prevalentin the Jewish population, so we
talked a little bit aboutneurologic issues as well.
So we cover everything andbasically people in the
community can get access to agenetic counselor and have any
(33:59):
questions answered.
Matt Burgess (34:01):
You know at any time basically I think the
genetic testing in the jewishcommunity for people that may
have um jewish ancestry isreally interesting and it's a um
a fascinating sort of way tosee over the past couple of
decades, how the ideas abouttesting has changed.
(34:24):
Um like I, as, just as agenetic counsellor, um working
in Melbourne where there's alarge Jewish population, and I
sort of understanding andlearning sort of what is
relevant, what's not relevantand um you know what's
(34:46):
appropriate and not appropriate,and just it.
It's really interesting becauseit's a combination of culture
and religion and science and allof it is kind of relevant, but
sometimes it's not, like I don'tknow what I'm trying to explain
, but yeah, it's just veryinteresting well well, yeah,
(35:06):
because when you, you know,jewish is an ethnicity, right,
it's, it's, it's a religion.
Scott Weissman (35:12):
But how we kind of, I think, relates jewish
genetics, how you know, we'retypically talking about people
of eastern european descent whowere founded from very small
population.
You know, these individuals thatkind of survived the diaspora
and the Holocaust and have movedkind of all over the world and
again, like a lot of populations, I think, generations back,
were, you know, reproducing withother people of Jewish descent.
(35:35):
So you have these things right,these, you know, tasacs and
BRCA, flourishing and growing inthe populations.
And you know, I often one ofthe questions that we kind of
often get is well, I don'tunderstand why being Jewish
makes a difference.
And so there's just a littlebit of education that we do
about some of these events andhow these things became more
prominent and why essentially welook for them.
(35:57):
But again, I think to yourpoint, like it's something that
I think that we're doing now,regardless of background, kind
of moving away from that, youknow, ethnic specific testing
and really doing more of thepan-ethnic, uh, carrier
screening at least.
Again, that's what we're doinghere.
I'm assuming you guys are doingdown there.
Matt Burgess (36:14):
Yeah, yeah, I think um, I mean part of that, I
think, was a financial thing,like we can't offer testing or
we need to be wise or smart withhow we're offering testing.
So if someone comes from aparticular background, we should
do that sort of testing,whereas now, you know, testing
is much cheaper and it's quickerand we kind of just, you know,
(36:34):
give everyone a reallycomprehensive test.
Um, yeah, you know, like,because someone can be just as
you have the same amount ofJewish ancestry, but, you know,
maybe they're Catholic andthey've got three Catholic
grandfathers and it was one oftheir mothers that was Jewish,
compared to someone who isculturally Jewish and grew up in
(36:58):
the Jewish community and haslike four Jewish grandparents.
So they sort of presentdifferently but they could be
the same.
I think, like from a geneticspoint of view, it doesn't really
matter.
Scott Weissman (37:11):
Right, exactly Like, in other words, just
something.
So people will say, well, mymother wasn't Jewish, so I'm not
Jewish, because in the Jewishculture, to be birthed, to be
Jewish, you need to be birthedthrough a woman who is jewish.
But you know again, as we know,you know, paternal genetics are
just as important as maternalgenetics.
So it's like no, even thoughyou know your, your, your
(37:32):
paternal, your father is jewish,it's still, it's still relevant
.
Like, yes, you may not identifyas as jewish for that reason,
but genetically it still is, isrelevant.
Matt Burgess (37:43):
So that is one of those cultural, cultural issues
that you were talking about yeah, another interesting change
that I saw um, you know, I knowthat genetic testing happened in
the schools and we sort of wereorganizing testing for like 15
or 16 year olds and hoping thatthey would remember this, you,
(38:03):
you know, 15 years later, whenthey were thinking of having
kids.
And you know, like 15 years or10 years in genetics is a really
long time, and I guess it'ssort of, you know, the idea has
sort of changed that, you know,instead of testing in the
schools, let's just test peoplewhen they're ready to have
babies.
Is that sort of like a changethat you've seen as well?
Scott Weissman (38:27):
Well, they still so, they in the Jewish
population.
There are still screeningprograms that do it in the
school.
So there's the Doryer Sharonprogram, which is again in the
States and in Israel forindividuals who are Orthodox,
where they test them young, theytest them for a smaller number
of conditions and then they keepthat information.
It is basically masked to theindividuals and then when these
(38:51):
individuals are talking about,you know, being betrothed or two
families coming together tobring their kids together, they
will go to the matchmaker andthey will look at the genetic
results and basically say, yes,they're a match or no, they're
not.
But they still don't reallyknow what their carriers for and
exactly why they weren't amatch or what the condition was.
(39:11):
Even so, there is still some ofthat going on, you know, in the
Orthodox population.
Matt Burgess (39:18):
Yeah, yeah, it's interesting.
It makes me think of, likemedical paternalism and how much
information that we give peopleand how much we don't, and I
know, sort of, um, I feel like Iwant to give everybody all of
the information I want them tounderstand.
(39:39):
And one of the um carrierproducts that I use at moment
and it's not targeted for Jewishpeople, it's, you know, open
for everybody or people with anysort of background instead of
telling people what they arecarriers for, they've sort of
gone back to just saying whetherthey're a high, you know,
(40:00):
they're a carrier couple or not,and it tells them what
condition that they're a carriercouple or not.
And it says, like it tells themwhat condition that they're a
carrier for.
But if, um, you know it's sortof marketed, as this is a test
for couples and, uh, you know,there's a panel of 500 or a
thousand different geneticconditions or genes, um, but
yeah, it's sort of just givingresults for a couple and I don't
(40:27):
know, I guess, if the coupleare staying together and, um,
yeah, that's the test that Iwant.
It's probably a good thing.
Scott Weissman (40:37):
Is it partly that they're trying to avoid
having to deal with some of thedominant risks like ATM and
breast cancer or GBA andParkinson's disease, like?
Are they trying to kind ofavoid having to have those kind
of conversations where they justwant to focus on family
planning and don't want to talkabout that, because that's
interesting?
Matt Burgess (40:56):
Yeah, I don't know .
I might have to sort of get intouch with the lab and sort of
find out exactly what theirmotivation was Like.
I know that it sort of camefrom research and so there was
less dollars to do the testing,so it was cheaper for them to
kind of just identify carriercouples.
But now that it's sort of movedover to clinical and you know
(41:20):
it's commercial, you're payingfor it, but they still sort of
have the same sort of resultguidelines.
So yeah, I'm not really surethere.
Scott Weissman (41:28):
So it's interesting.
So, if I'm understanding peoplein Australia, they can either
maybe have a test that is paidfor by the government as part of
the social health care, or theycould pay for a broader test on
their own that has moreconditions.
So there's kind of two waysthey could go about it test on
their own.
Matt Burgess (41:45):
That has more conditions.
So there's kind of two waysthey could go about it.
Yeah, what happened was look,so we have universal healthcare
and we've got Medicare and Imean, yeah, I was going to say
it's complicated, but maybe it'snot as complicated as in the
United States.
But you know, if you see agenetic service, usually you
need to have a referral fromyour doctor and then Medicare
(42:07):
pays for the appointment and ifyou meet criteria for testing,
you get tested.
So you know, like if you've gota family history, of Huntington
disease or you know syndrome.
We would usually pay.
You know the test was covered.
However, for whatever reason,the carrier screening was not
(42:35):
covered and it really had to besomething that people paid for
themselves.
And I think about five, six,seven years ago there was a girl
in Sydney who was born to acouple and she ended up dying
before her first birthday fromspinal muscular atrophy and her
parents.
So her name was Mackenzie andso her parents made or came up
(42:58):
with this campaign and called itMackenzie's Mission and through
their sort of advocating to thegovernment they were able to,
and along with sort of geneticsprofessionals in Australia, they
were able to come up with agovernment-funded genetic test.
So I think that they needed tooffer testing to 10,000 couples
(43:22):
in Australia.
So that was still very much inthe research space.
But from that the governmentsaid, okay, well, we will offer
government funded testing, butonly for cystic fibrosis, spinal
muscular atrophy and fragile X.
So we do have funded testingnow in Australia, but it really
is only for three conditions andif people want a bigger panel
(43:46):
they need to pay it'sinteresting.
Scott Weissman (43:50):
Um, there seems like a whole road to go down
with that and like no, no sicklecell, like it's.
Matt Burgess (43:57):
It's interesting yeah, I mean, I guess yeah,
there are like most GPs if whenyou say that you're thinking of
having babies, they'll do anelectrophoresis, you know, to
sort of see if people arecarriers of different blood
disorders.
But yeah, anyway, complicated.
Scott Weissman (44:19):
I think that is more complicated than here.
Okay, so we have mutual issues.
That's good to know it's notjust one-sided.
Yeah, that's great.
Matt Burgess (44:29):
So it's been lovely chatting to you today and
I want to let you go, but therewas just one funny sort of
story that I heard on the GreatBar and I wanted to ask you
about it.
Oh, my God, okay, I heard thatit was Dr Lynch that you were
working with and maybe you gavehim, um, a pedicure or a
(44:50):
manicure or something.
Scott Weissman (44:53):
Uh, yeah, um.
So, uh, dr Lynch uh started theprogram that uh I worked at
when I first came out of schoolat it was Evanston Hospital in
Illinois and he would come uponce a month because he had a
research study that he was doingon the APC R1307K variants.
Matt Burgess (45:15):
This is Dr Henry.
Scott Weissman (45:16):
Lynch, this is Dr Henry Lynch, correct?
This is the guy.
And so I would get to see himonce a month and he would, you
know, he would tell theseamazing stories, some of which I
can never repeat.
I mean, it was just, it wasfascinating to learn from him.
And then one day he came in andhe had a giant, um, a giant
hangnail on his thumb and he'slike, uh, scott, I need you to
(45:40):
go get a pair of scissors andcut this off.
And I was like Dr Lynch, I'mnot cutting that off of your
hand.
I'm like, I'm not going to bethe guy that cuts off Dr Lynch's
thumb, like that's not how Iwant to go down in history in
the genetics community.
He's like, it's not a big deal,you won't cut my thumb off, I
promise it'll be fine.
So I got a giant pair ofscissors and cut this hangnail
(46:07):
off of his thumb.
Thankfully, I did not cut histhumb off, but yeah, I gave
Henry Lynch a very, uh, very, uhshort manicure, oh, wow.
Matt Burgess (46:13):
So, yeah, that, um , it was, um, you know something
that, uh, I get to tell onoccasion, uh, but yeah, oh,
that's funny because, um, Iguess for the listeners who
don't know um, dr lynch haslynch syndrome named after him.
And when I went to universityand I'm sure it's probably
similar for you I learned thatthere was this condition called
(46:36):
um hnpcc, or hereditary umnon-polyposis colorectal cancer,
and then it sort of changed, oryou know the the idea was that
it should be named Dr Leap.
So I guess I don't know toomuch of the story, um, but yeah,
that's my very superficialunderstanding of it.
Scott Weissman (46:54):
Yeah, well, I think you know, I think it was a
couple of things.
I think there was one.
Uh, we began to recognize thatthere were like these Lynch
families that clearly hadmutations in the mismatch repair
genes in that cam Right.
And then Heather Hample and hercolleagues identified the
biolelic mutations in the tumorsthat were making it look like.
(47:16):
So there was like anotherpresentation.
And then there were stillfamilies that had colon cancer
in them but weren't Lynch and itwas a study out of Mayo that
called it like familialcolorectal cancer type X.
I don't know if you rememberthat, that study from way back
when, and I think there was aconcerted effort as a way to
acknowledge all the researchthat Dr Lynch did.
(47:37):
You know over the, you know 50,60 years, that you know when
you identify a mismatch repairgene, like that is Lynch
syndrome and everything else isnot, and so I think again, a way
to recognize him.
I'm not sure if that wasspearheaded by, like the
collaborative groups of America.
I'm not sure how that, reallywho spearheaded that, but I
think at least in the Statesthat's how we typically do it.
(47:57):
Now it's Lynch or it's not.
Matt Burgess (47:59):
Wow, and you cut his nail.
Scott Weissman (48:02):
Yeah, and I gave him a very small manicure, so
yeah, Excellent.
Matt Burgess (48:06):
Well, what a beautiful place to finish up our
very interesting conversation.
Scott Weissman (48:16):
Thank you so much for being a guest on
Demystifying Genetics, Matt.
It's good seeing you again andI appreciate the invitation to
come and talk to you today.
Thank you so much.
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