August 21, 2023 • 39 mins
In an engaging exploration of genetics, join me as I converse with the distinguished Dr. Maya Chopra of Harvard Medical School and Boston Children's Hospital. We delve into her captivating journey of researching rare and complex disorders, providing an intriguing insight into the intersection of research and clinical practice. We also explore the crucial role of clinical geneticists in the fast-paced world of gene therapy. The middle segment of our conversation takes an ethical bend as we dissect the moral dilemmas and credentialing challenges associated with gene therapy. We discuss the complexities involved in assigning scores to ethical considerations and examine how the recredentialing process in healthcare has transformed over time. Moreover, we touch on the benefits of approaching medical learning from a mature perspective. In the final part of our discussion, Dr. Chopra shares an enlightening account of her discovery and research on the Chopra-Amiel Gordon Syndrome. This dominant condition exhibits varied levels of severity, adding to the complexities of its understanding. We also highlight the importance of genetic counseling in genomic medicine and shed light on the power of multilingual communication in this sphere. The episode concludes on a lighter note with Dr. Chopra sharing amusing anecdotes about her canine companions. Tune in to this compelling episode for an immersive experience into the world of genetics! https://www.childrenshospital.org/directory/maya-chopra Chopra-Amiel Gordon Syndrome https://www.ncbi.nlm.nih.gov/medgen/1794185
Demystifying Genetics is sponsored by TrakGene https://www.trakgene.com/
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Episode Transcript
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Matt Burgess (00:00):
Hello and welcome to another episode of the
Mystifying Genetics.
Today my guest is Dr MayaChopra from Harvard Medical
School and Boston Children'sHospital.
She's a clinical geneticist andwe talked about her research
and her various researchinterests, some of her academic
articles and we also talk aboutgenetic counseling in French.
(00:24):
Hello everybody, and welcome tothe Mystifying Genetics with Dr
Maya Chopra.
Hi Maya, how are you?
Dr Maya Chopra (00:34):
Hi Matt, I'm very well.
It's great to chat to you.
Matt Burgess (00:37):
Excellent.
So first things first.
I think it would be good for meto make a disclosure.
You know I can set the scene.
I think it's good for people toknow how I identify.
I'd just like to say I'm aproud .
Are you a proud Novacastrianand can you tell our listeners
(00:59):
what a is?
Dr Maya Chopra (01:02):
Yes, I'm also a very proud , otherwise known as
a Newie, which is that I wasraised in the beautiful town of
Newcastle, which is, for thoseof you who are not familiar with
it, a couple of hours north ofSydney, and it is a beautiful,
beautiful well I should say city, really located on the coast,
(01:24):
with beautiful beaches and, Ithink, a really bustling young
and professional kind ofpopulation.
Matt Burgess (01:36):
Yeah, good description.
We both live in the UnitedStates, but I really miss
Newcastle, so excellent.
Okay, now I think the secondthing to say is I am doing some
study at the moment.
I am writing my thesis and youare actually my external
supervisor for my doctorate.
(01:57):
So yeah, that's interesting.
Dr Maya Chopra (02:02):
It is, it is.
I was going to ask if you'vebeen doing your homework, matt.
Matt Burgess (02:07):
I haven't been doing my homework and it's a
little bit.
It's so nerdy, but one of myother supervisors read a draft
and she said that I needed toput a reference in.
And I actually used one of yourpapers and you had a sentence
that was just perfect and I waslike, oh, I can use that.
So it kind of made me smile.
Dr Maya Chopra (02:29):
Oh, I'm so good.
Matt Burgess (02:33):
So you are a clinical geneticist, so that's a
medical doctor that hasspecialized in genetics.
You live in Boston.
You work at Harvard MedicalSchool and Boston Children's
Hospital.
What's it like to sort of do acombination of research and
clinical work?
Dr Maya Chopra (02:54):
I think for me it's happened very naturally and
organically, and I would saythat I spent many years as a
clinician, working in a range ofhealthcare settings, and I
think that the roadblocks that Ifaced in my clinical practice
(03:15):
the sorts of questions that Iwas being asked by families
about what a diagnosis means,what's going to happen to the
child and what is the pathwaytowards therapeutic development
I always felt that they wereroadblocks and I think what has
(03:35):
been very natural and verymotivating for me is now to be
able to focus my research onanswering those questions.
Matt Burgess (03:44):
Okay, so the research that you're doing is
very practical in nature andsort of able to translate
research into the clinical world.
Dr Maya Chopra (03:56):
I think so and I think you know I think spending
a long period of time inclinics seeing families has
helped me understand what thereal research questions are, and
it's helped me understand howimportant they are for families.
And there were questions that Ialways felt I was at a loss to
be able to answer, especiallywhen it came to therapies.
(04:19):
I've worked in a range ofsettings, but the questions that
families have are the samewhat's going to happen to my
child and what treatment isthere?
And I never really feltcompletely comfortable in being
able to even begin to answerthose questions.
So for me that's been a realdriver for my research and
(04:42):
that's been the real, I guess,source of inspiration.
And so for me it's been a verynatural transition to go from
clinic to research work andhopefully be able to feed that
back to better clinical care.
Matt Burgess (04:56):
I think that's really interesting as a clinical
geneticist saying that, becauseeven though you are a medical
doctor where we think of doctors, you know their job is to treat
but really you know, I meanmaybe it's a little bit of a
generalization, but clinicalgeneticists are usually involved
with, like the treatment andongoing management and more like
(05:21):
the diagnosing sort of part ofthings.
So it sounds like that's aninteresting sort of combination.
Like, maybe as a clinicalgeneticist you sounds like you
felt like you weren't able toanswer all of those questions,
but adding the research on issort of helping with that goal.
Dr Maya Chopra (05:39):
I think so.
I think that's right.
I think, historically, clinicalgenetics has very much been
focused on diagnosis and we cannow make a diagnosis in about
50% of our patients who presentwith these rare and complex
interesting presentations.
Historically, once a diagnosishas been made, we usually send
those patients to their varioussub-specialists for continuing
(06:03):
surveillance or for managementor for specific recommendations.
I think the way that the fieldis evolving now is that clinical
geneticists are needing tobecome more aware about the
newer therapeutic options andabout things like clinical
trials and understandingregistries and understanding
(06:24):
what steps need to be taken togo from the diagnostic odyssey
all the way through to thepost-diagnostic odyssey.
Well, we can make a diagnosis.
We can tell you the exact geneschange, for example, that has
resulted in your child'sdevelopmental difficulties.
But what next and what doesthat mean and what are the next
steps?
And I think that now, asclinical geneticists, we have to
(06:45):
take that leap and we have alot to contribute, I think, as a
profession as that field movesforward.
Matt Burgess (06:53):
Wow, how exciting, and I think that one of the
areas of clinical medicine thatis really expanding and
exploding at the moment is genetherapy.
Do you see that a clinicalgeneticist has a role in
administering gene therapy orbeing involved in that, or is it
(07:14):
still just you make thediagnosis and then other doctors
will do the gene therapy, eventhough it's genetic medicine?
Dr Maya Chopra (07:23):
I think that it's going to need a
multi-disciplinary approach.
I think that clinicalgeneticists have a role to play
in this path towards therapeuticdevelopment.
Part of that is that we'vespent years, decades,
(07:43):
understanding the craft of raredisorders, understanding the
nuances of the variability ofpresentations, understanding the
complexity of interpretinggenetic tests, and I think all
of those skills the clinicalskills, the molecular skills,
(08:03):
correlating what we callgenotype and phenotype, meaning
correlating the gene change withthe patient symptoms and signs
they're all really important fortherapies.
So I'd like to see moreemphasis placed on treatment
through clinical geneticstraining programs and in fact
the American College of MedicalGenetics, which is the national
(08:26):
body here in the US for medicalgeneticists, has recognised this
and recently put out astatement really to help set the
scene for the role of clinicalgeneticists as we move towards
clinical trials and gene therapy.
Matt Burgess (08:43):
Excellent.
Okay, so one paper that youhave written that I wanted to
talk to you about.
It's one that was publishedlast year called Gene Target a
framework for evaluatingMendelian neurodevelopmental
disorders for gene therapy.
You published that with KiraKira dies a lovely genetic
(09:08):
counsellor and you had sort oftold me about this paper.
I'd heard about it and Ithought, okay, you know, I guess
that sounds interesting.
And it wasn't until sorry.
Dr Maya Chopra (09:21):
I just took out the paper to add to the reading
list.
Matt Burgess (09:24):
Well, it wasn't until I actually started reading
that I thought, oh my God, itis actually quite interesting
and it's very interesting, andit's talking about something
that I'd not ever really thoughtabout before, and it's about,
if I can summarise it myself,what diseases should be studied.
Is it diseases that theresearcher is interested in?
(09:46):
And I think, as a layperson, oras someone, that I hadn't
really thought about you knowthis topic I thought, well, if
researchers are at universitiesand they want to study a
condition, like, go for it.
I guess it's up to them.
But then, you know, is it thepharmaceutical companies that
have got a lot of money andthey're sort of, you know, back
(10:06):
in a particular condition?
Is that what we should be goingfor?
Or is it sort of the supportgroups, where you know there's
lots of people affected, or youknow they have really strong
support groups?
And I think obviously it's acombination of all of it and it
kind of made me think, you know,like, is there some sort of
(10:29):
like ethical or moral componentto this?
And, you know, do we live inlike a utilitarian sort of
society where it's sort of likethe best for the most people?
How did you go into writingthis paper and did your sort of
views on things change as youwere writing this article?
Dr Maya Chopra (10:53):
This is a great question, so just to explain
what that long, really longtitle was.
So the area of geneticsspecifically that I'm interested
in and that I'm working on isthe genetics of
neurodevelopmental disorders.
So that's an umbrella group ofdisorders that encompass
intellectual disability,developmental delay and autism,
(11:14):
and also epilepsy and otherneurodevelopmental presentations
.
There are now about a thousandindividual genes that have been
implicated in neurodevelopmentaldisorders and I guess what we
were looking at is, out of allof these 100, a thousand
different genetic causes, how dowe decide which ones are the
(11:35):
right ones to focus on fortherapies and who gets to make
that decision and what's theframework to inform that
decision making?
If you were to ask a scientistwho spent their entire life
studying one disorder, of coursethe most important disorder for
that scientist would be thatdisorder.
If you to ask a pharmaceuticalexecutive, they may say well, it
(11:59):
needs to be commercially viablebecause otherwise the whole
program will collapse.
Maybe an ethicist would saythat we should pick those
disorders that are most severeand that are the most life
limiting.
And perhaps an epidemiologistwould say we should pick the
disorder that is the most commonof the rare disorders, because
we have the greatest potentialto impact a greater number of
(12:21):
people.
So these are all multiple views.
And if you then kind ofsuperimpose on top of that, if
you ask any parent of a childwho has a rare genetic disorder,
of course they're going to saythe disorder that affects my
child.
So how do we as a scientificcommunity come together and
bring all of those perspectivestogether?
And really we wrote this paperbecause there was a gap in the
(12:45):
literature that really zoomedout and looked at this big
picture.
There was a lot of literature atthe moment on gene therapies,
on the types of delivery forgene therapy, the types of viral
vector, on individualconditions and on different
mechanisms, but we really wantedto take a step back and look at
the big picture, at all of thefactors that should come into
(13:09):
play and how we kind of navigatethose priorities which
sometimes compete.
In terms of how did my viewschange?
I think the more I looked, themore I realized how difficult
this whole field is, the more Irealized the importance of
engaging with families, patientadvocacy groups, the more I
(13:33):
understood that we're going tohave to tackle this together.
We're going to have to pulltogether science, medicine,
families and industry in orderto be able to do this in a
rational way.
The thing that I think I stillfeel is the biggest challenge is
(13:57):
how this is ever going to bescalable and how such
technologies are going to bedelivered and offered in an
equitable fashion.
We want to have a system wherepatients who need therapies can
access the therapies globally,and how we're going to do that.
Matt Burgess (14:14):
So does that mean that we can't give everything to
everybody, so we need to have away to figure out what we can
do in a fair way.
Dr Maya Chopra (14:25):
I think it's important to remember that these
are new technologies and mostof them are still at their trial
stage.
So a lot of it comes down tohow do we balance which
disorders are the best ones topursue these trials for.
Part of that is a risk-benefitanalysis.
So for a given disorder, doesthe potential benefit outweigh
(14:48):
the risk and what is the risk ofdoing nothing?
So, disorders that arelife-limiting or that are severe
, if you look at communitybeliefs, of course the community
and this has been publishedcommunities will come back and
say yes.
I think that disorders that aremore severe are the ones that
we should target first.
Matt Burgess (15:08):
Yeah, it's fascinating.
And it's funny because when Isat down to read the paper I
thought, okay, Maya's a doctor,she's quite quantitative in her
approach.
I'm a genetic counselor.
I'm much more qualitative andthere are some things on here
that I feel like as a scientist,it's very easy to assign a
(15:32):
number to Like has the gene beenfound, yes or no, or can you do
this?
But then there are sort ofthings like the gene target is
actually an acronym and so the Estands for ethical principles
have been considered, and thenthe T is target populations are
(15:52):
accessible and engaged and Ikind of was like oh, that's a
bit more subjective, Like you'retrying to be very objective in
how you assign numbers, but itstill has a very subjective sort
of feel to it.
But I think you do really well.
Dr Maya Chopra (16:09):
Yeah, yeah, that's an interesting point
because we actually we submittedthe paper without the scores.
We just had this mnemonic andsaid well, these are the factors
that need to be considered,good luck considering them.
And the reviewers came back andsaid that's great, but how do
you weigh them against eachother?
How do you weigh the ethicsagainst whether or not we know
(16:32):
the natural history of adisorder?
So we'd like you to proposesome scores, and that was really
hard because these scoresaren't validated.
We came up with them byconsensus and they're just a
suggestion and they will clearlyneed to be refined with time,
but we think that they're astarting point.
So that was an interesting.
(16:54):
That was interesting how thatevolved.
We didn't actually start withscores and particularly, as you
pointed out, how do you scoreethical considerations?
That was really hard, so we hadto keep that quite broad.
And really we just wanted it toserve as a reminder of the
talking points, to remindeverybody that the ethical
considerations need to be reallycentral to this discussion.
(17:17):
And really you could have avery long discussion just on the
ethics of gene therapies, butwe just had to contextualize it
within this all of these otherfactors that need to be
considered.
Matt Burgess (17:31):
Well, well done.
I think you guys did very welland it's a very interesting
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(18:41):
Changing topics a little bit,we're both Aussies and we
trained in our professions inAustralia and then we moved to
this lovely country.
However, with ourqualifications we weren't able
to actually work clinically.
Me as a genetic counselor.
With my qualifications, andeven though I'm board certified
(19:03):
and I actually teach geneticcounseling in the United States,
I can't actually sit the boardexam.
To be able to sit the boardexam, I basically have to start
from scratch.
Is that what you had to do as adoctor?
Did you have to go back to?
How far back did you have to goto be able to sit the board
(19:23):
exams?
Dr Maya Chopra (19:24):
here I had to do a set of exams that medical
students do, called the USMLEs.
That was a fun thing to doduring COVID.
I've had to do a lot ofobviously a lot of
(19:46):
recredentialing, and I'mcurrently going through the
process of obtaining a medicallicense.
So that's been quite a processand a challenge.
But I will say there's ablurred line between seeing
patients clinically and throughresearch.
Ultimately, either way, asclinical genocists, we see
patients, we try and make adiagnosis, we choose a test, we
(20:11):
try and explain what the resultsof those tests mean and decide
on next steps, and ultimatelythat's what you do as a
clinician, and you can do thesame thing in a research context
, which is what I've been doing.
So yeah, I say it's been aninteresting journey to try and
have everything completelysigned off, but I've been able
(20:33):
to certainly do some interestingand satisfying work in the
meantime.
Matt Burgess (20:37):
Excellent, because it does sound a little bit
annoying having to go backwardsor feel like you're going
backwards, and I would imagineas a medical student you're very
broad in your learning and thenyou get more and more specific.
Have there been any advantagesto going back and relearning
(20:59):
stuff that you might not havethought about for many years?
Dr Maya Chopra (21:03):
It's been quite interesting because medicine has
changed a lot.
I graduated from medical schoolfrom the University of New
South Wales in 2000 and lots ofthings in medicine have changed
since then, so I kind of had torelearn it all, which has been
interesting.
But we're different now, aren'twe?
I think when we go through ouruniversity in our 20s, we're at
(21:27):
a different stage of our lifethan we are now when we try and
re-credential.
So I think we're only able todo what we can do when we're
older.
In terms of trying to get somebalance, it certainly was very.
It was hard to spend weekendsevery day on weekends doing a
(21:47):
couple of hours of study inorder to get these exams out of
the way.
Matt Burgess (21:50):
Yeah, Well, well done.
So recently you had a diseasenamed after yourself.
I think that's amazing.
So it's Chopra-Amiyel Gordonsyndrome.
So it's to do with a gene thatI've never heard of before.
(22:12):
I think this condition must bequite rare, but there are lots
of really interesting things tosay about this.
I don't know where to go first,but I know when I was sort of
learning about tests, looking atmany genes all at once, like
the whole enzyme and wholegenome, I think what the
hypothesis was that when we weregoing to be making these
(22:35):
diagnoses, they were going to berecessive conditions, and I
think one of the shocks was thata lot of these conditions are
actually new dominant conditions.
And this condition that hasyour name associated with it, is
it a new dominant condition?
Dr Maya Chopra (22:56):
Yes, it is so.
For most individuals who havethis disorder it's a de novo
gene change, meaning that itjust started in that individual.
Having said that, we know of acouple of individuals who
actually inherited the variantfrom a parent and that only
became clear after the child wasdiagnosed and the parents were
(23:18):
tested and one of the parentswas found to harbour a variant
in this particular gene.
But when questioned, theseparents would reveal in
retrospect that they had somedevelopmental difficulties, that
they needed a bit of extra helpat school or that they were
quite delayed in the attainmentof their developmental
(23:39):
milestones.
And then, when we looked atthem, some of them had the
physical features.
So it is like many disorderscan be very variable.
It can result in quite asignificant intellectual
disability, but on the otherhand can be relatively mild and
perhaps fly under the radaruntil someone has a child, when
(24:02):
things kind of bubble to thesurface.
Matt Burgess (24:04):
Cool.
It must be an amazing feelingto see your name on OBEAM.
Dr Maya Chopra (24:13):
I'll tell you.
What has been quite useful isthat I remain very interested in
this disorder and have set up across-sectional natural history
study, which means we're reallytrying to deeply understand the
spectrum of this disorder andunderstand the types of gene
variants and understand the fullclinical presentation.
(24:33):
And it has been useful havingthe name attached to it, because
it means that when someoneanywhere in the world is
diagnosed, or a physiciandiagnoses a patient, they often
stumble across our study andfind their way to us, which has
been very useful for a disorderthat's very bad.
Matt Burgess (24:52):
Excellent, and so this research did it come about
from your time in France.
Dr Maya Chopra (24:59):
It did.
It did, yes.
So it came about from a studyactually looking at a cohort of
patients with cleft palate, sothat's a structural malformation
, and specifically we werelooking at individuals who had
cleft palate and other features,so syndromic cleft palate this
was under the Arniellelaboratory, so that's one of the
(25:21):
other names in the syndrome andwe saw a girl who was about 17
and had a cleft palate which hadbeen repaired and she had a
really significant developmentaldisability she was nonverbal,
she had epilepsy, she had anumber of other interesting
structural malformations.
She only had one kidney, sorenal agenesis, and she had
(25:44):
scoliosis, so she had acurvature of the spine and she
had been investigated veryextensively over the years
without a diagnosis and weperformed this was about five or
six years ago a research exome.
So we sequenced all of thecoding parts of her genes and
identified a change in a genecalled Anchorin D17, which at
(26:07):
that time was not known to beassociated with human disease.
It took about three or fouryears to then find a cohort of
patients around the world theysort of trickled in one by one
who also had variants in thisgene and they looked similar.
They looked sort of like theyfell under this particular
umbrella, so we were able topublish this as a new or
(26:30):
previously unrecognized syndrome.
So it was a lot ofcollaboration.
But this kind of story ofidentifying a variant in a gene,
finding out the patients in theworld, that's really been the
story of gene discovery over thelast decade.
That's what we've been seeing.
These new genes that have beendescribed as disease genes.
(26:51):
I think there's probably beenabout three to five a week new
disease genes that are published.
So it's very hard to keep trackof them and it doesn't surprise
me that you haven't heard of it.
Matt Burgess (27:07):
And how was your time?
I mean, it sounds like a bit ofa silly question, but how was
it in France and how was itworking?
And what percentage were youspeaking in French versus
English and were you able to seepatients in French?
Dr Maya Chopra (27:22):
First of all, it was amazing.
It was wonderful and anythingthat you can imagine.
It was exponentially morewonderful than even that it was
incredible.
It was a wonderful experience,living and working.
I think living and working inFrance was just one of the
highlights of my life.
(27:45):
I will say that I arrivedwithout any French at all, so I
did not study French at school,but I did grow up in a bilingual
household and I studiedJapanese at school and I learned
Mandarin when living in China.
So I think being a languageperson and really liking
languages definitely made iteasier.
(28:07):
It probably took a year beforeI was confident enough to be
able to interact with patients.
I actually started that with agenetic counsellor who was very
encouraging and said you've justgot to do it, come with me.
And we did see a cysticfibrosis clinic together because
(28:28):
it was very formulaic I justhad to describe one pattern of
inheritance and answer somequestions and that got my
confidence up and eventually Iwas lucky enough to be able to
see patients, usually witheither a genetic counsellor or a
resident trainee in genetics,and it was wonderful and really
(28:51):
despite my fears about familiesbeing really disappointed to see
this Australian physician whoseFrench was not perfect.
They were actually veryencouraging and very nice, and a
few of them since fed back tothe team that they liked my very
simple French explanations ofpatterns of inheritance and of
(29:11):
genetic testing.
Because it was so simple theycould easily understand it.
I thought, well, that was veryeye-opening and you can all
really think about the way thatwe communicate complex ideas to
families.
Matt Burgess (29:25):
Yeah, I think sometimes we do make things a
bit more complicated than whatthey really need to be.
So that's great feedback.
Another disclosure I have isthat I am a frank-afile, so I
lived in France and I do speakFrench myself and I had a
similar client interaction inSydney.
(29:48):
You know like, when I spoke tothe client for the first time on
the telephone and I drew herfamily tree, I did that in
French and then for the firstappointment I had the French
interpreter.
So I just spoke in English andshe spoke in French with the
interpreter.
But I could understandeverything and it was a bit
(30:08):
confusing and I was just, I wasstill training, I was an
associate genetic counsellor atthe time and when it came to the
results appointment, she waspositive for the particular
condition that we were workingor looking at and the
interpreter cancelled at thelast minute and this lady was
(30:29):
leaving to go back home overseasthe following day and I
couldn't like.
I just was like she reallyneeds an interpreter, I could
get one and we decided to goahead with me conducting the
session in French and I reallysort of I must admit I freaked
(30:50):
out a little bit because I wasstill training and normally, I
see, I was seeing patients witha doctor.
I kind of felt like I had thesafety net there, but he didn't
speak French and he was actuallya bit of a not a liability, but
like you know, because hedidn't understand what was going
on.
He kept sort of annoying me andI was like shut up, oh, but
(31:16):
they actually, you know, like I.
You know there were certainthings that you know, I know in
English how to say like theproper medical terms for it, but
then in French I didn't knowhow to say.
You know like um, what was itlike?
Bilateral salpingo ufaractomy?
I didn't know how to say thatin French, but I did.
Dr Maya Chopra (31:35):
I could say remove your ovaries, which is
essentially what you know, isprobably exactly what the family
needed here.
Matt Burgess (31:46):
Yeah, and I felt like you know I think I was just
being really paranoid.
The session was fine and Iremember saying to them you
deserve to have all of thisinformation in a language that
you understand.
And they're like Matt, we haveunderstood it, every word you've
said, we understand the resultand we're really grateful and I
was like, okay, I think you knowthere is a good message in
(32:08):
there.
Dr Maya Chopra (32:09):
There are lots of good messages.
I mean it's really veryhumbling.
It's a very humbling thing tobe out of your comfort zone and
to be the foreigner and to bethe guest in the country,
particularly as a medicalprofessional we see foreign
medical professionals all thetime but to be able to step into
their shoes and experience whatit's like to really sit in a
(32:31):
meeting and try and takeeverything in and come up with a
response and by the time you'veformulated your response, of
what you're going to say, thetopic has changed.
And to be the person who canunderstand but still can't quite
get the jokes or can't quitehave the same personality that
(32:51):
you would have in your firstlanguage, to not be able to be
charming or funny, to feel likeyou're just a little bit of a
shadow of yourself.
It's a very humbling experienceand I would encourage anyone
who has the opportunity to do itto do it, Because going through
that, I think, is it'stransformational Everyone should
(33:14):
do it.
Matt Burgess (33:17):
Yes, I agree.
I think it's funny that I justwrote my read situations up with
laugh and maybe laugh a littlebit louder than what I normally
would.
I just wanted people to knowthat I understood it.
I got the joke.
I got the joke.
I'm not quite fast enough toreply or say something, but yes,
(33:37):
I understood and it was funny.
Dr Maya Chopra (33:40):
Yes, yes, that is funny.
Matt Burgess (33:43):
So you said that you graduated from medicine a
little while ago and since thenyou've worked in some really
interesting places with someinteresting conditions and maybe
not what you expected yourprofessional career to be like.
And I'm guessing, along the way, that you've worked with some
good genetic counselors.
(34:04):
And can you sort of make acomment on genetic counseling
and like how you've seen itevolve over the years and the
advantages of being a geneticcounselor?
Dr Maya Chopra (34:18):
Well, that's a great question.
I think I've worked withgenetic counselors every step of
the way.
The way that we interact andwork together has definitely
evolved and changed, but I thinkthat they are and I'm not just
saying this because you're agenetic counselor I think the
genetic counselors areabsolutely critical, especially
(34:39):
now, especially now that genomicmedicine is being integrated
into healthcare, now thattesting is becoming readily more
accessible and now that we havea lot more variants for which
there is uncertainty to dealwith, it's absolutely critical
that we are able to, that we'reable to, as a health system,
(35:02):
establish the infrastructure,including genetic counselors, to
be able to handle all of this.
Traditionally in Australia,genetic counselors and
geneticists will work togetherin a department of clinical
genetics.
I think that things haveevolved now where we will see
genetic professionals throughoutspecialties neurology,
(35:25):
cardiology, certainly the cancerfields.
So I think you know, I thinkthat it's definitely a career
that people should consider ifthey're listening and they're
interested in genetic counseling.
I will say I've worked withgenetic counselors both in the
traditional clinical model so inAustralia with the really nice
model of working hand in hand tosee patients having a genetic
(35:47):
counselor assess families beforewe see them, take a family
history and really, really digdeep to find out what these
families' concerns are, rightthrough to in my current role,
where my genetic counselors workwith me on a number of research
projects, and the skills thatthey bring in the skills of
(36:09):
being able to consent families,being able to explain complex
tests, being able to see beyondthe patient right through the
rest of the family have beenabsolutely critical, even at a
research level.
Matt Burgess (36:21):
Beautiful, excellent.
Okay, finally, I think we needto sort of, you know, sadly,
wrap up this conversation, butjust to end on.
I think we both have doodles,don't we?
Dr Maya Chopra (36:38):
Yes, we do, we do.
Yes, I have a beautiful goldendoodle.
Her name is Coco and middlename Chanel, and she is the love
of our lives and she's sleepingjust outside this door right
now.
And you've got Banjo.
Matt Burgess (36:58):
Yes, banjo Patterson Patterson is his
middle name.
My beautiful Banjo isn't quiteas big as Coco, he's a little
bit smaller, but yeah, it's myfirst dog and I think I've gone
dog crazy since I've had him.
Dr Maya Chopra (37:17):
Oh, they changed your life.
I think we both got.
We both had COVID puppies,didn't we?
Matt Burgess (37:22):
Yeah.
Dr Maya Chopra (37:22):
Yeah, yeah, I think that they're just such
beautiful creatures and I'vebeen awe.
I've been awe of theirintelligence and I've always
been very interested incommunication.
Clearly, you know communication, children with developmental
disabilities and how theycommunicate, and I love
languages and I'm justfascinated by these dogs and
(37:43):
their ability to understand andtheir ability to communicate
with different barks.
It's really something.
Matt Burgess (37:50):
Yeah, I taught Banjo I mean, I didn't even know
how I did it, but I taught himto ring the bell when he needs
to go outside, and he does, andhe's very consistent Like he
will go.
I think, you know, maybe 10% ofthe time he's just bored and
wants to go outside, but 90% ofthe time if he needs to go potty
he'll ring the bell and he'lljust sit there and look for us
(38:14):
to open the door for him.
I think, oh, he's sointelligent.
Dr Maya Chopra (38:19):
That is excellent.
That's very good matters.
We've taught Coco to not starther meal until we say Bon
Appetit.
And sometimes I forget and Icome.
We'll leave the room and comeback and she's still sitting
there and they'll say oh, bonAppetit, coco.
Matt Burgess (38:38):
Oh, come say my role.
That's beautiful.
Well, thank you so much fordemystifying genetics with me
this afternoon.
I've had a great time chattingto you about your career and
about your research interests,and I think that our listeners
will really enjoy theconversation as well.
Dr Maya Chopra (39:00):
Thank you for having me, Matt.
Matt Burgess (39:02):
Okay, then take care, bye, bye.
Dr Maya Chopra (39:04):
You too Bye bye.
Matt Burgess (39:06):
Thanks for watching another episode of
Demystify and Genetics.
I'd like to say a big thank youto Dr Maya Chopra for being my
guest on this episode, thank youto Track Jean for sponsoring
this episode and to my lovelyproducer, omi, and thanks
everybody for listening.
Hello and welcome to another episode of the
Mystifying Genetics.
Today my guest is Dr MayaChopra from Harvard Medical
School and Boston Children'sHospital.
She's a clinical geneticist andwe talked about her research
and her various researchinterests, some of her academic
articles and we also talk aboutgenetic counseling in French.
(00:24):
Hello everybody, and welcome tothe Mystifying Genetics with Dr
Maya Chopra.
Hi Maya, how are you?
Dr Maya Chopra (00:34):
Hi Matt, I'm very well.
It's great to chat to you.
Matt Burgess (00:37):
Excellent.
So first things first.
I think it would be good for meto make a disclosure.
You know I can set the scene.
I think it's good for people toknow how I identify.
I'd just like to say I'm aproud .
Are you a proud Novacastrianand can you tell our listeners
(00:59):
what a is?
Dr Maya Chopra (01:02):
Yes, I'm also a very proud , otherwise known as
a Newie, which is that I wasraised in the beautiful town of
Newcastle, which is, for thoseof you who are not familiar with
it, a couple of hours north ofSydney, and it is a beautiful,
beautiful well I should say city, really located on the coast,
(01:24):
with beautiful beaches and, Ithink, a really bustling young
and professional kind ofpopulation.
Matt Burgess (01:36):
Yeah, good description.
We both live in the UnitedStates, but I really miss
Newcastle, so excellent.
Okay, now I think the secondthing to say is I am doing some
study at the moment.
I am writing my thesis and youare actually my external
supervisor for my doctorate.
(01:57):
So yeah, that's interesting.
Dr Maya Chopra (02:02):
It is, it is.
I was going to ask if you'vebeen doing your homework, matt.
Matt Burgess (02:07):
I haven't been doing my homework and it's a
little bit.
It's so nerdy, but one of myother supervisors read a draft
and she said that I needed toput a reference in.
And I actually used one of yourpapers and you had a sentence
that was just perfect and I waslike, oh, I can use that.
So it kind of made me smile.
Dr Maya Chopra (02:29):
Oh, I'm so good.
Matt Burgess (02:33):
So you are a clinical geneticist, so that's a
medical doctor that hasspecialized in genetics.
You live in Boston.
You work at Harvard MedicalSchool and Boston Children's
Hospital.
What's it like to sort of do acombination of research and
clinical work?
Dr Maya Chopra (02:54):
I think for me it's happened very naturally and
organically, and I would saythat I spent many years as a
clinician, working in a range ofhealthcare settings, and I
think that the roadblocks that Ifaced in my clinical practice
(03:15):
the sorts of questions that Iwas being asked by families
about what a diagnosis means,what's going to happen to the
child and what is the pathwaytowards therapeutic development
I always felt that they wereroadblocks and I think what has
(03:35):
been very natural and verymotivating for me is now to be
able to focus my research onanswering those questions.
Matt Burgess (03:44):
Okay, so the research that you're doing is
very practical in nature andsort of able to translate
research into the clinical world.
Dr Maya Chopra (03:56):
I think so and I think you know I think spending
a long period of time inclinics seeing families has
helped me understand what thereal research questions are, and
it's helped me understand howimportant they are for families.
And there were questions that Ialways felt I was at a loss to
be able to answer, especiallywhen it came to therapies.
(04:19):
I've worked in a range ofsettings, but the questions that
families have are the samewhat's going to happen to my
child and what treatment isthere?
And I never really feltcompletely comfortable in being
able to even begin to answerthose questions.
So for me that's been a realdriver for my research and
(04:42):
that's been the real, I guess,source of inspiration.
And so for me it's been a verynatural transition to go from
clinic to research work andhopefully be able to feed that
back to better clinical care.
Matt Burgess (04:56):
I think that's really interesting as a clinical
geneticist saying that, becauseeven though you are a medical
doctor where we think of doctors, you know their job is to treat
but really you know, I meanmaybe it's a little bit of a
generalization, but clinicalgeneticists are usually involved
with, like the treatment andongoing management and more like
(05:21):
the diagnosing sort of part ofthings.
So it sounds like that's aninteresting sort of combination.
Like, maybe as a clinicalgeneticist you sounds like you
felt like you weren't able toanswer all of those questions,
but adding the research on issort of helping with that goal.
Dr Maya Chopra (05:39):
I think so.
I think that's right.
I think, historically, clinicalgenetics has very much been
focused on diagnosis and we cannow make a diagnosis in about
50% of our patients who presentwith these rare and complex
interesting presentations.
Historically, once a diagnosishas been made, we usually send
those patients to their varioussub-specialists for continuing
(06:03):
surveillance or for managementor for specific recommendations.
I think the way that the fieldis evolving now is that clinical
geneticists are needing tobecome more aware about the
newer therapeutic options andabout things like clinical
trials and understandingregistries and understanding
(06:24):
what steps need to be taken togo from the diagnostic odyssey
all the way through to thepost-diagnostic odyssey.
Well, we can make a diagnosis.
We can tell you the exact geneschange, for example, that has
resulted in your child'sdevelopmental difficulties.
But what next and what doesthat mean and what are the next
steps?
And I think that now, asclinical geneticists, we have to
(06:45):
take that leap and we have alot to contribute, I think, as a
profession as that field movesforward.
Matt Burgess (06:53):
Wow, how exciting, and I think that one of the
areas of clinical medicine thatis really expanding and
exploding at the moment is genetherapy.
Do you see that a clinicalgeneticist has a role in
administering gene therapy orbeing involved in that, or is it
(07:14):
still just you make thediagnosis and then other doctors
will do the gene therapy, eventhough it's genetic medicine?
Dr Maya Chopra (07:23):
I think that it's going to need a
multi-disciplinary approach.
I think that clinicalgeneticists have a role to play
in this path towards therapeuticdevelopment.
Part of that is that we'vespent years, decades,
(07:43):
understanding the craft of raredisorders, understanding the
nuances of the variability ofpresentations, understanding the
complexity of interpretinggenetic tests, and I think all
of those skills the clinicalskills, the molecular skills,
(08:03):
correlating what we callgenotype and phenotype, meaning
correlating the gene change withthe patient symptoms and signs
they're all really important fortherapies.
So I'd like to see moreemphasis placed on treatment
through clinical geneticstraining programs and in fact
the American College of MedicalGenetics, which is the national
(08:26):
body here in the US for medicalgeneticists, has recognised this
and recently put out astatement really to help set the
scene for the role of clinicalgeneticists as we move towards
clinical trials and gene therapy.
Matt Burgess (08:43):
Excellent.
Okay, so one paper that youhave written that I wanted to
talk to you about.
It's one that was publishedlast year called Gene Target a
framework for evaluatingMendelian neurodevelopmental
disorders for gene therapy.
You published that with KiraKira dies a lovely genetic
(09:08):
counsellor and you had sort oftold me about this paper.
I'd heard about it and Ithought, okay, you know, I guess
that sounds interesting.
And it wasn't until sorry.
Dr Maya Chopra (09:21):
I just took out the paper to add to the reading
list.
Matt Burgess (09:24):
Well, it wasn't until I actually started reading
that I thought, oh my God, itis actually quite interesting
and it's very interesting, andit's talking about something
that I'd not ever really thoughtabout before, and it's about,
if I can summarise it myself,what diseases should be studied.
Is it diseases that theresearcher is interested in?
(09:46):
And I think, as a layperson, oras someone, that I hadn't
really thought about you knowthis topic I thought, well, if
researchers are at universitiesand they want to study a
condition, like, go for it.
I guess it's up to them.
But then, you know, is it thepharmaceutical companies that
have got a lot of money andthey're sort of, you know, back
(10:06):
in a particular condition?
Is that what we should be goingfor?
Or is it sort of the supportgroups, where you know there's
lots of people affected, or youknow they have really strong
support groups?
And I think obviously it's acombination of all of it and it
kind of made me think, you know,like, is there some sort of
(10:29):
like ethical or moral componentto this?
And, you know, do we live inlike a utilitarian sort of
society where it's sort of likethe best for the most people?
How did you go into writingthis paper and did your sort of
views on things change as youwere writing this article?
Dr Maya Chopra (10:53):
This is a great question, so just to explain
what that long, really longtitle was.
So the area of geneticsspecifically that I'm interested
in and that I'm working on isthe genetics of
neurodevelopmental disorders.
So that's an umbrella group ofdisorders that encompass
intellectual disability,developmental delay and autism,
(11:14):
and also epilepsy and otherneurodevelopmental presentations
.
There are now about a thousandindividual genes that have been
implicated in neurodevelopmentaldisorders and I guess what we
were looking at is, out of allof these 100, a thousand
different genetic causes, how dowe decide which ones are the
(11:35):
right ones to focus on fortherapies and who gets to make
that decision and what's theframework to inform that
decision making?
If you were to ask a scientistwho spent their entire life
studying one disorder, of coursethe most important disorder for
that scientist would be thatdisorder.
If you to ask a pharmaceuticalexecutive, they may say well, it
(11:59):
needs to be commercially viablebecause otherwise the whole
program will collapse.
Maybe an ethicist would saythat we should pick those
disorders that are most severeand that are the most life
limiting.
And perhaps an epidemiologistwould say we should pick the
disorder that is the most commonof the rare disorders, because
we have the greatest potentialto impact a greater number of
(12:21):
people.
So these are all multiple views.
And if you then kind ofsuperimpose on top of that, if
you ask any parent of a childwho has a rare genetic disorder,
of course they're going to saythe disorder that affects my
child.
So how do we as a scientificcommunity come together and
bring all of those perspectivestogether?
And really we wrote this paperbecause there was a gap in the
(12:45):
literature that really zoomedout and looked at this big
picture.
There was a lot of literature atthe moment on gene therapies,
on the types of delivery forgene therapy, the types of viral
vector, on individualconditions and on different
mechanisms, but we really wantedto take a step back and look at
the big picture, at all of thefactors that should come into
(13:09):
play and how we kind of navigatethose priorities which
sometimes compete.
In terms of how did my viewschange?
I think the more I looked, themore I realized how difficult
this whole field is, the more Irealized the importance of
engaging with families, patientadvocacy groups, the more I
(13:33):
understood that we're going tohave to tackle this together.
We're going to have to pulltogether science, medicine,
families and industry in orderto be able to do this in a
rational way.
The thing that I think I stillfeel is the biggest challenge is
(13:57):
how this is ever going to bescalable and how such
technologies are going to bedelivered and offered in an
equitable fashion.
We want to have a system wherepatients who need therapies can
access the therapies globally,and how we're going to do that.
Matt Burgess (14:14):
So does that mean that we can't give everything to
everybody, so we need to have away to figure out what we can
do in a fair way.
Dr Maya Chopra (14:25):
I think it's important to remember that these
are new technologies and mostof them are still at their trial
stage.
So a lot of it comes down tohow do we balance which
disorders are the best ones topursue these trials for.
Part of that is a risk-benefitanalysis.
So for a given disorder, doesthe potential benefit outweigh
(14:48):
the risk and what is the risk ofdoing nothing?
So, disorders that arelife-limiting or that are severe
, if you look at communitybeliefs, of course the community
and this has been publishedcommunities will come back and
say yes.
I think that disorders that aremore severe are the ones that
we should target first.
Matt Burgess (15:08):
Yeah, it's fascinating.
And it's funny because when Isat down to read the paper I
thought, okay, Maya's a doctor,she's quite quantitative in her
approach.
I'm a genetic counselor.
I'm much more qualitative andthere are some things on here
that I feel like as a scientist,it's very easy to assign a
(15:32):
number to Like has the gene beenfound, yes or no, or can you do
this?
But then there are sort ofthings like the gene target is
actually an acronym and so the Estands for ethical principles
have been considered, and thenthe T is target populations are
(15:52):
accessible and engaged and Ikind of was like oh, that's a
bit more subjective, Like you'retrying to be very objective in
how you assign numbers, but itstill has a very subjective sort
of feel to it.
But I think you do really well.
Dr Maya Chopra (16:09):
Yeah, yeah, that's an interesting point
because we actually we submittedthe paper without the scores.
We just had this mnemonic andsaid well, these are the factors
that need to be considered,good luck considering them.
And the reviewers came back andsaid that's great, but how do
you weigh them against eachother?
How do you weigh the ethicsagainst whether or not we know
(16:32):
the natural history of adisorder?
So we'd like you to proposesome scores, and that was really
hard because these scoresaren't validated.
We came up with them byconsensus and they're just a
suggestion and they will clearlyneed to be refined with time,
but we think that they're astarting point.
So that was an interesting.
(16:54):
That was interesting how thatevolved.
We didn't actually start withscores and particularly, as you
pointed out, how do you scoreethical considerations?
That was really hard, so we hadto keep that quite broad.
And really we just wanted it toserve as a reminder of the
talking points, to remindeverybody that the ethical
considerations need to be reallycentral to this discussion.
(17:17):
And really you could have avery long discussion just on the
ethics of gene therapies, butwe just had to contextualize it
within this all of these otherfactors that need to be
considered.
Matt Burgess (17:31):
Well, well done.
I think you guys did very welland it's a very interesting
paper.
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Go to trackgenecom that'sT-R-A-K-G-E-N-Ecom.
(18:41):
Changing topics a little bit,we're both Aussies and we
trained in our professions inAustralia and then we moved to
this lovely country.
However, with ourqualifications we weren't able
to actually work clinically.
Me as a genetic counselor.
With my qualifications, andeven though I'm board certified
(19:03):
and I actually teach geneticcounseling in the United States,
I can't actually sit the boardexam.
To be able to sit the boardexam, I basically have to start
from scratch.
Is that what you had to do as adoctor?
Did you have to go back to?
How far back did you have to goto be able to sit the board
(19:23):
exams?
Dr Maya Chopra (19:24):
here I had to do a set of exams that medical
students do, called the USMLEs.
That was a fun thing to doduring COVID.
I've had to do a lot ofobviously a lot of
(19:46):
recredentialing, and I'mcurrently going through the
process of obtaining a medicallicense.
So that's been quite a processand a challenge.
But I will say there's ablurred line between seeing
patients clinically and throughresearch.
Ultimately, either way, asclinical genocists, we see
patients, we try and make adiagnosis, we choose a test, we
(20:11):
try and explain what the resultsof those tests mean and decide
on next steps, and ultimatelythat's what you do as a
clinician, and you can do thesame thing in a research context
, which is what I've been doing.
So yeah, I say it's been aninteresting journey to try and
have everything completelysigned off, but I've been able
(20:33):
to certainly do some interestingand satisfying work in the
meantime.
Matt Burgess (20:37):
Excellent, because it does sound a little bit
annoying having to go backwardsor feel like you're going
backwards, and I would imagineas a medical student you're very
broad in your learning and thenyou get more and more specific.
Have there been any advantagesto going back and relearning
(20:59):
stuff that you might not havethought about for many years?
Dr Maya Chopra (21:03):
It's been quite interesting because medicine has
changed a lot.
I graduated from medical schoolfrom the University of New
South Wales in 2000 and lots ofthings in medicine have changed
since then, so I kind of had torelearn it all, which has been
interesting.
But we're different now, aren'twe?
I think when we go through ouruniversity in our 20s, we're at
(21:27):
a different stage of our lifethan we are now when we try and
re-credential.
So I think we're only able todo what we can do when we're
older.
In terms of trying to get somebalance, it certainly was very.
It was hard to spend weekendsevery day on weekends doing a
(21:47):
couple of hours of study inorder to get these exams out of
the way.
Matt Burgess (21:50):
Yeah, Well, well done.
So recently you had a diseasenamed after yourself.
I think that's amazing.
So it's Chopra-Amiyel Gordonsyndrome.
So it's to do with a gene thatI've never heard of before.
(22:12):
I think this condition must bequite rare, but there are lots
of really interesting things tosay about this.
I don't know where to go first,but I know when I was sort of
learning about tests, looking atmany genes all at once, like
the whole enzyme and wholegenome, I think what the
hypothesis was that when we weregoing to be making these
(22:35):
diagnoses, they were going to berecessive conditions, and I
think one of the shocks was thata lot of these conditions are
actually new dominant conditions.
And this condition that hasyour name associated with it, is
it a new dominant condition?
Dr Maya Chopra (22:56):
Yes, it is so.
For most individuals who havethis disorder it's a de novo
gene change, meaning that itjust started in that individual.
Having said that, we know of acouple of individuals who
actually inherited the variantfrom a parent and that only
became clear after the child wasdiagnosed and the parents were
(23:18):
tested and one of the parentswas found to harbour a variant
in this particular gene.
But when questioned, theseparents would reveal in
retrospect that they had somedevelopmental difficulties, that
they needed a bit of extra helpat school or that they were
quite delayed in the attainmentof their developmental
(23:39):
milestones.
And then, when we looked atthem, some of them had the
physical features.
So it is like many disorderscan be very variable.
It can result in quite asignificant intellectual
disability, but on the otherhand can be relatively mild and
perhaps fly under the radaruntil someone has a child, when
(24:02):
things kind of bubble to thesurface.
Matt Burgess (24:04):
Cool.
It must be an amazing feelingto see your name on OBEAM.
Dr Maya Chopra (24:13):
I'll tell you.
What has been quite useful isthat I remain very interested in
this disorder and have set up across-sectional natural history
study, which means we're reallytrying to deeply understand the
spectrum of this disorder andunderstand the types of gene
variants and understand the fullclinical presentation.
(24:33):
And it has been useful havingthe name attached to it, because
it means that when someoneanywhere in the world is
diagnosed, or a physiciandiagnoses a patient, they often
stumble across our study andfind their way to us, which has
been very useful for a disorderthat's very bad.
Matt Burgess (24:52):
Excellent, and so this research did it come about
from your time in France.
Dr Maya Chopra (24:59):
It did.
It did, yes.
So it came about from a studyactually looking at a cohort of
patients with cleft palate, sothat's a structural malformation
, and specifically we werelooking at individuals who had
cleft palate and other features,so syndromic cleft palate this
was under the Arniellelaboratory, so that's one of the
(25:21):
other names in the syndrome andwe saw a girl who was about 17
and had a cleft palate which hadbeen repaired and she had a
really significant developmentaldisability she was nonverbal,
she had epilepsy, she had anumber of other interesting
structural malformations.
She only had one kidney, sorenal agenesis, and she had
(25:44):
scoliosis, so she had acurvature of the spine and she
had been investigated veryextensively over the years
without a diagnosis and weperformed this was about five or
six years ago a research exome.
So we sequenced all of thecoding parts of her genes and
identified a change in a genecalled Anchorin D17, which at
(26:07):
that time was not known to beassociated with human disease.
It took about three or fouryears to then find a cohort of
patients around the world theysort of trickled in one by one
who also had variants in thisgene and they looked similar.
They looked sort of like theyfell under this particular
umbrella, so we were able topublish this as a new or
(26:30):
previously unrecognized syndrome.
So it was a lot ofcollaboration.
But this kind of story ofidentifying a variant in a gene,
finding out the patients in theworld, that's really been the
story of gene discovery over thelast decade.
That's what we've been seeing.
These new genes that have beendescribed as disease genes.
(26:51):
I think there's probably beenabout three to five a week new
disease genes that are published.
So it's very hard to keep trackof them and it doesn't surprise
me that you haven't heard of it.
Matt Burgess (27:07):
And how was your time?
I mean, it sounds like a bit ofa silly question, but how was
it in France and how was itworking?
And what percentage were youspeaking in French versus
English and were you able to seepatients in French?
Dr Maya Chopra (27:22):
First of all, it was amazing.
It was wonderful and anythingthat you can imagine.
It was exponentially morewonderful than even that it was
incredible.
It was a wonderful experience,living and working.
I think living and working inFrance was just one of the
highlights of my life.
(27:45):
I will say that I arrivedwithout any French at all, so I
did not study French at school,but I did grow up in a bilingual
household and I studiedJapanese at school and I learned
Mandarin when living in China.
So I think being a languageperson and really liking
languages definitely made iteasier.
(28:07):
It probably took a year beforeI was confident enough to be
able to interact with patients.
I actually started that with agenetic counsellor who was very
encouraging and said you've justgot to do it, come with me.
And we did see a cysticfibrosis clinic together because
(28:28):
it was very formulaic I justhad to describe one pattern of
inheritance and answer somequestions and that got my
confidence up and eventually Iwas lucky enough to be able to
see patients, usually witheither a genetic counsellor or a
resident trainee in genetics,and it was wonderful and really
(28:51):
despite my fears about familiesbeing really disappointed to see
this Australian physician whoseFrench was not perfect.
They were actually veryencouraging and very nice, and a
few of them since fed back tothe team that they liked my very
simple French explanations ofpatterns of inheritance and of
(29:11):
genetic testing.
Because it was so simple theycould easily understand it.
I thought, well, that was veryeye-opening and you can all
really think about the way thatwe communicate complex ideas to
families.
Matt Burgess (29:25):
Yeah, I think sometimes we do make things a
bit more complicated than whatthey really need to be.
So that's great feedback.
Another disclosure I have isthat I am a frank-afile, so I
lived in France and I do speakFrench myself and I had a
similar client interaction inSydney.
(29:48):
You know like, when I spoke tothe client for the first time on
the telephone and I drew herfamily tree, I did that in
French and then for the firstappointment I had the French
interpreter.
So I just spoke in English andshe spoke in French with the
interpreter.
But I could understandeverything and it was a bit
(30:08):
confusing and I was just, I wasstill training, I was an
associate genetic counsellor atthe time and when it came to the
results appointment, she waspositive for the particular
condition that we were workingor looking at and the
interpreter cancelled at thelast minute and this lady was
(30:29):
leaving to go back home overseasthe following day and I
couldn't like.
I just was like she reallyneeds an interpreter, I could
get one and we decided to goahead with me conducting the
session in French and I reallysort of I must admit I freaked
(30:50):
out a little bit because I wasstill training and normally, I
see, I was seeing patients witha doctor.
I kind of felt like I had thesafety net there, but he didn't
speak French and he was actuallya bit of a not a liability, but
like you know, because hedidn't understand what was going
on.
He kept sort of annoying me andI was like shut up, oh, but
(31:16):
they actually, you know, like I.
You know there were certainthings that you know, I know in
English how to say like theproper medical terms for it, but
then in French I didn't knowhow to say.
You know like um, what was itlike?
Bilateral salpingo ufaractomy?
I didn't know how to say thatin French, but I did.
Dr Maya Chopra (31:35):
I could say remove your ovaries, which is
essentially what you know, isprobably exactly what the family
needed here.
Matt Burgess (31:46):
Yeah, and I felt like you know I think I was just
being really paranoid.
The session was fine and Iremember saying to them you
deserve to have all of thisinformation in a language that
you understand.
And they're like Matt, we haveunderstood it, every word you've
said, we understand the resultand we're really grateful and I
was like, okay, I think you knowthere is a good message in
(32:08):
there.
Dr Maya Chopra (32:09):
There are lots of good messages.
I mean it's really veryhumbling.
It's a very humbling thing tobe out of your comfort zone and
to be the foreigner and to bethe guest in the country,
particularly as a medicalprofessional we see foreign
medical professionals all thetime but to be able to step into
their shoes and experience whatit's like to really sit in a
(32:31):
meeting and try and takeeverything in and come up with a
response and by the time you'veformulated your response, of
what you're going to say, thetopic has changed.
And to be the person who canunderstand but still can't quite
get the jokes or can't quitehave the same personality that
(32:51):
you would have in your firstlanguage, to not be able to be
charming or funny, to feel likeyou're just a little bit of a
shadow of yourself.
It's a very humbling experienceand I would encourage anyone
who has the opportunity to do itto do it, Because going through
that, I think, is it'stransformational Everyone should
(33:14):
do it.
Matt Burgess (33:17):
Yes, I agree.
I think it's funny that I justwrote my read situations up with
laugh and maybe laugh a littlebit louder than what I normally
would.
I just wanted people to knowthat I understood it.
I got the joke.
I got the joke.
I'm not quite fast enough toreply or say something, but yes,
(33:37):
I understood and it was funny.
Dr Maya Chopra (33:40):
Yes, yes, that is funny.
Matt Burgess (33:43):
So you said that you graduated from medicine a
little while ago and since thenyou've worked in some really
interesting places with someinteresting conditions and maybe
not what you expected yourprofessional career to be like.
And I'm guessing, along the way, that you've worked with some
good genetic counselors.
(34:04):
And can you sort of make acomment on genetic counseling
and like how you've seen itevolve over the years and the
advantages of being a geneticcounselor?
Dr Maya Chopra (34:18):
Well, that's a great question.
I think I've worked withgenetic counselors every step of
the way.
The way that we interact andwork together has definitely
evolved and changed, but I thinkthat they are and I'm not just
saying this because you're agenetic counselor I think the
genetic counselors areabsolutely critical, especially
(34:39):
now, especially now that genomicmedicine is being integrated
into healthcare, now thattesting is becoming readily more
accessible and now that we havea lot more variants for which
there is uncertainty to dealwith, it's absolutely critical
that we are able to, that we'reable to, as a health system,
(35:02):
establish the infrastructure,including genetic counselors, to
be able to handle all of this.
Traditionally in Australia,genetic counselors and
geneticists will work togetherin a department of clinical
genetics.
I think that things haveevolved now where we will see
genetic professionals throughoutspecialties neurology,
(35:25):
cardiology, certainly the cancerfields.
So I think you know, I thinkthat it's definitely a career
that people should consider ifthey're listening and they're
interested in genetic counseling.
I will say I've worked withgenetic counselors both in the
traditional clinical model so inAustralia with the really nice
model of working hand in hand tosee patients having a genetic
(35:47):
counselor assess families beforewe see them, take a family
history and really, really digdeep to find out what these
families' concerns are, rightthrough to in my current role,
where my genetic counselors workwith me on a number of research
projects, and the skills thatthey bring in the skills of
(36:09):
being able to consent families,being able to explain complex
tests, being able to see beyondthe patient right through the
rest of the family have beenabsolutely critical, even at a
research level.
Matt Burgess (36:21):
Beautiful, excellent.
Okay, finally, I think we needto sort of, you know, sadly,
wrap up this conversation, butjust to end on.
I think we both have doodles,don't we?
Dr Maya Chopra (36:38):
Yes, we do, we do.
Yes, I have a beautiful goldendoodle.
Her name is Coco and middlename Chanel, and she is the love
of our lives and she's sleepingjust outside this door right
now.
And you've got Banjo.
Matt Burgess (36:58):
Yes, banjo Patterson Patterson is his
middle name.
My beautiful Banjo isn't quiteas big as Coco, he's a little
bit smaller, but yeah, it's myfirst dog and I think I've gone
dog crazy since I've had him.
Dr Maya Chopra (37:17):
Oh, they changed your life.
I think we both got.
We both had COVID puppies,didn't we?
Matt Burgess (37:22):
Yeah.
Dr Maya Chopra (37:22):
Yeah, yeah, I think that they're just such
beautiful creatures and I'vebeen awe.
I've been awe of theirintelligence and I've always
been very interested incommunication.
Clearly, you know communication, children with developmental
disabilities and how theycommunicate, and I love
languages and I'm justfascinated by these dogs and
(37:43):
their ability to understand andtheir ability to communicate
with different barks.
It's really something.
Matt Burgess (37:50):
Yeah, I taught Banjo I mean, I didn't even know
how I did it, but I taught himto ring the bell when he needs
to go outside, and he does, andhe's very consistent Like he
will go.
I think, you know, maybe 10% ofthe time he's just bored and
wants to go outside, but 90% ofthe time if he needs to go potty
he'll ring the bell and he'lljust sit there and look for us
(38:14):
to open the door for him.
I think, oh, he's sointelligent.
Dr Maya Chopra (38:19):
That is excellent.
That's very good matters.
We've taught Coco to not starther meal until we say Bon
Appetit.
And sometimes I forget and Icome.
We'll leave the room and comeback and she's still sitting
there and they'll say oh, bonAppetit, coco.
Matt Burgess (38:38):
Oh, come say my role.
That's beautiful.
Well, thank you so much fordemystifying genetics with me
this afternoon.
I've had a great time chattingto you about your career and
about your research interests,and I think that our listeners
will really enjoy theconversation as well.
Dr Maya Chopra (39:00):
Thank you for having me, Matt.
Matt Burgess (39:02):
Okay, then take care, bye, bye.
Dr Maya Chopra (39:04):
You too Bye bye.
Matt Burgess (39:06):
Thanks for watching another episode of
Demystify and Genetics.
I'd like to say a big thank youto Dr Maya Chopra for being my
guest on this episode, thank youto Track Jean for sponsoring
this episode and to my lovelyproducer, omi, and thanks
everybody for listening.
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