So, my name is Kelly Chen, I consider myself a Bay
Area native. I grew up on Freemont and, I'm a Genetic
Counselor. And, technically, I guess my title is Perinatal Genetic Counselor.
So I focus on patients who are pregnant, or thinking about pregnancy.
>> So walk us through wa, what is it like? I mean, who, what kind of patient
comes to you, and how does the workflow
process work, when they seek out a genetic counselor?
>> So the
workflow for a perinatal genetic counselor, and perinatal
is actually, kind of a new phrase we created
at where I work. Traditionally the word has been
prenatal, so before birth, and then there's postnatal. And
now that we are doing so much intervention
before birth that affects after birth, we use the
combination of perinatal. So most of the patients that
I see, are pregnant actively pregnant, and thinking about
doing some testing, to check for either genetic conditions
or birth defects. sometimes we see patients before they get
pregnant, but they know they want to have children, and know
that they might be at risk for a certain condition.
So our appointments are fairly, they're like office consultations.
We do a little prep work, we might contact them
on the phone, and get a little family history, or
medical history. and then our meeting with them is probably,
40 minutes, 40 to 60 minutes long. and then afterwards, if we've ordered testing
or there's other appointments to make, we'll
follow up and, and help patients with that.
>> I'm really curious about the, the testing. So
do patients come to you and say, I want
to know what's in my genes, or what I pass on, and you guys do a test for them?
>> Yeah, so I think our patients are a
little biased. I mean, I'm sure there, it seems
like there, there are certainly patients out there, who
would say, or people out there who would say,
that they don't want to learn, know their genetic status.
And those patients we never end up seeing, because they would
just decline an appointment with us. So those that we do
see, definitely are interested in some kind of genetic information. Whether
it's for themselves or primarily, for their pregnancy or for their
future child. so yeah, so sometimes there's something specific in the
family that we're looking for. We've had some patients just say,
test me for everything. I want to know everything, and we
have to explain. Are the science, science and technology's
not quite there yet and so, we're trying to pinpoint
what can we offer you. Accurate testing, specific testing, something
that would be helpful to you. So a lot of
what I do is, I think of it as a
consultation, but also just providing information. I see us as
a link, between physicians and patients. That, traditionally doctors ordered
tests that are fairly straightforward, like a blood count, or
a blood type, or something like that, and they can
easily tell patient what that means in a sentence. With this
genetic testing, it's much more complicated than that. it's not
always a straightforward yes or no, and doctors don't have time
to spend with patients explaining that. And so I see
us as a bridge between that, being able to help patients
decipher and interpret this information, and then also helping them
make decisions based on those results. because a lot of decisions
to be made, especially in pregnancy, are not always
medical decisions, they're personal decisions about what patients want to
do about information about their future offspring. so, so prenatal
specifically, is an interesting ethical realm, because we're also dealing.
>> Sure.
>> With pregnancy and, and termination.
>> What's the most difficult aspect about it, if I can ask? is it?
Is it patients actually, you know, deciding
about, you know, continuing the pregnancy versus not?
are there significant traits that they have to deal with? I just, I'm
looking for some kind of idea when it does, when it does get gray.
>> Yeah.
>> As far as the difficult part of the job.
>> Yeah. So yeah, no, you bring up a good point, I actually hadn't
thought about that before. And one of the difficulties in the job, in what
I do with pregnancy is, we're not
always we're certainly talking about genetic testing.
Sometimes we're dealing with other kinds of
testing in pregnancy, like ultrasounds. So video
picture of the baby, where you see a physical problem,
that might be something that suggests a genetic condition like
Down Syndrome, or something else. And seeing the physical problem,
doesn't guarantee what the outcome's going to be. And so that
is one difficulty in prenatal, that you don't have a
live person in front of you to say, oh this
person is actually fine, maybe they have an extra finger
or toe, but they're otherwise healthy. In a pregnancy, you don't,
you don't have that baby in front of you,
and you can't check if there's other things going on.
So I think that definitely is one difficult aspect of
what I do, specifically. and I would just say, in
general, just dealing with pregnant patients is tough. Pregnancy
is a time limited event. So I feel like of
all the subspecialties in genetic counseling, prenatal is usually the
one most time sensitive. We're under deadlines for scheduling appointments,
seeing patients, test results and just the anxiety of the
patients themselves. They also have the hormone issues to deal with.
>> Mm-hm.
>> Its a very emotional time. So it can
be quite challenging, but it also can be quite satisfying.
>> So I'm, I'm also curious, what is, is there a common
trait or condition that you counsel for the most? Like what is, what
are the things that you either end up counseling for, or do people
come to you and ask the most? What are they most interested in?
>> So, for my specific specialty in prenatal, by
far I think nationwide the most common condition that we're
talking about, is Down Syndrome. I was thinking about
how I'd explain why. I think it's a combination of
things, because the condition is genetic, but it's not
inherited. so it would randomly appear, and there would be
no other way to tell about it, other than to
check for it in that pregnancy. And there's a known
association with the age of the mom, as women
get older, there's a higher chance of Down Syndrome.
the insurances actually will cover testing for Down Syndrome,
so that's kind of a supportive step that aids us
in seeing patients. It's common, a common condition, I
think about one in 800 to 1,000 births for
Down Syndrome occur, and it can be a long
term disability. Children with Down Syndrome grow up into adults,
they have intellectual disability, they can have health
issues. And so, it seems like there's enough interest
in that, that we have this testing. So for
my specialty, it's fairly easy. We, we talk primarily
about that, and some related conditions. whereas in
other specialties like Pediatrics, where I used to work
it could be a range of things variety of
things, depending on what a child comes in for,
for us to see. Whether it's a learning problem,
we think about, would make us think about certain conditions
verses if it was a physical birth defect, like
a heart defect or cleft lip, that would shift our
gear into something else. What's the most difficult trait
you've had to counsel? Is it Down Syndrome, or is
there another more difficult situation or trait that you've had
to lets say counsel a family on, or a couple?
>> I mean one of my most memorable patient
cases had to, not to do with the prenatal
case, but a pediatric case, where we're seeing a
child, and part of the list of conditions we're
thinking about, was Taysacs Disease. So that one is
also a known single gene recessive condition, that is
common in people with Jewish background. So when we
are thinking about that disease, that usually means that
the child is coming in with delays, and maybe normal
development, then loss of delays. so it's not like it
was, it's a surprise to the family. We, we would
talk to them about, this is a possibility, we're going
to be ordering test for this condition. but it's always
hard to have to call or contact a family, and
tell them, this is, this is a condition. So I
think any kind of test result that confirms a condition,
that It has high risk for complications, or early death that's
never easy to.
>> Sure.
>> To, to convey.
>> So do families really have all this information?
Like, are you able to build like, these massive pedigrees?
[LAUGH]
>> Or do you end up building these sort
of more like, just maybe two or three generations pedigrees?
>> So, families vary in how much information
they can give us for pedigrees. I see
a lot of patients, also, that I should
mention, that come from other countries, especi, specifically Asia,
where, not as, not much is known about
family members. People don't talk about conditions in
the family. So the ped, and, and people
don't have that many children, so the pedigrees can
be very sparse. So just like a circle, and
a square, and a circle, and a square, and that's
it. And then all the way to families who have
their whole genealogy trees mapped out, with the aid of
all these online tools, and so they come in with
their pedigrees already drawn. So it's really a fun part
of our drob, job, but it's also efficient to draw
this out instead of trying to describe all these people.
>> Well I have a really interesting question.
>> Mm.
>> To ask for all of our students,
who might be struggling with pedigrees out there.
>> Hm.
>> How do you as an actual genetic counsel, let's
say you're studying a trait. How do you distinguish when
you're looking at traits that, a recessive or dominant trait,
and put it in context of what you think's going on?
>> So, the so, trying to figure out a
trait, whether it's dominant, recessive, or vera-axeling, those are
the top three modes of inheritance, that we're looking
at. We actually have a term called pedigree analysis.
and, you know, it's a subjective thing, but it
really is looking at the pedigree and going through, kind
of, all the rules of what dominant inheritance looks
like, what recessive inheritance looks like. So if you see
a trait that happens in a grandparent, a parent,
and a child, then that's much more likely to be
a dominant trait. If you see a condition where multiple
brothers and sisters are affected and by, chance maybe their
parents are related to each other, and no one else in the family
has the trait. Then that's more likely
or suggestive of something recessive. And then
if you see, only boys affected through moms, that could be more X-linked.
So the pedigree really does help us try to figure out modes of inheritance.
>> Thank you so much.
>> Thank you very much for the opportunity.