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- Well, thank you both so much for being with us today
to review what it means to be a genetic counselor
and what that role is for women.
What is a genetic counselor?
- That's a good question we get asked a lot.
We have medical training or graduate training
in medical genetics and also in counseling
so that we can help individuals and families
understand both risks for genetic conditions,
but also a diagnosis.
So we help them understand that information.
If they decide to do genetic testing,
we help them go through that process
and just help them with resources
and advocating for themselves.
- Who should see a genetic counselor?
- We have a lot of different genetic clinics at UCSD.
The individuals that come to see us here
usually are 35 and older.
They might have a personal history of a genetic disorder,
a family history of a genetic disorder.
Sometimes there are personal or family histories
of birth defects.
And so those are usually the main reasons
why we see people here.
- In terms of planning for pregnancy,
you see both patients that are planning to be pregnant
as well as pregnant patients?
How do those visits usually go?
- Yeah, so sometimes we'll see someone before a pregnancy
and we'll take a pretty detailed personal and family history
to try to understand.
And usually we're driven by the patient's questions.
So what kinds of questions do they have
about how those histories might affect
a future pregnancy.
And if there's testing that's appropriate,
we'll talk more about that
and help them with that process as well.
When someone's already pregnant,
we're usually talking more specifically
about tests that are available for certain risks
during the pregnancy.
However, most pregnancies are healthy and normal,
and we always wanna focus on that.
So we're really talking about what options are available
so people can make the choices that are right for them.
And then taking a family history as well
during those appointments just to make sure
there's nothing else that we wanna talk about.
- Is there anything that a patient should do
to prepare for these visits to get the most out of them?
- It's helpful if they talk to their family
about specific health concerns.
Oftentimes, women will come in and say,
I think that Grandma had some heart condition,
or I think my brother's daughter is a little delayed.
But they don't have any specific diagnoses
or concrete medical records.
And so as much information as possible it is
for them to gather is helpful for our appointment.
It's also helpful for a couple to just starting thinking
about what kind of information they might want,
what might be helpful for them,
what might stress them out a little bit more.
We certainly go into a lot of detail
and help them flesh out those decisions
during the genetic counseling appointment.
But it might be helpful for them to just think
about that before they come in.
- Who do you usually recommend come to the visit?
Just the patient herself, or?
- It's a personal decision.
Of course it's influenced by schedules
and things like that.
So it's helpful if their partner can come with them.
But it's definitely not necessary.
Of course, if their partner can't make it,
having those conversations beforehand
about his family history is very helpful.
But otherwise, we welcome anyone
that they want to have in the room
to have those conversations.
- So how do you take a family history for somebody?
- Yeah, so we draw a pedigree for every family we see.
And basically that means we are making squares
for every man, circles for every woman,
and drawing out, sketching out the family.
So we ask about previous children.
We ask about siblings.
We ask about parents.
And we typically will shade in individuals
that have conditions of concern,
whether it's birth defects, learning problems,
genetic disorders.
Sometimes it might sound a little unusual
why we want to know if somebody has a full brother
or a half brother, or if their cousin with autism
is on Mom's side or Dad's side.
Certain genetic disorders are passed more
through a man or a woman.
So that affects the risk assessment that we provide them
for their pregnancy.
- For a patient that does have a family history,
how do you approach understanding that family history?
- So we take a pretty detailed family history
whenever we meet with a patient,
because that can influence risk assessment.
And then really, it's driven a lot
by the patient's questions.
So sometimes if we have a family history of a condition
that the patient is very familiar with,
they don't necessarily have a lot of questions.
But sometimes they're interested in either testing
or what other things they should do to prepare
if their baby does have that particular condition.
So we can help both if they're choosing to test
or if they're just interested in kind of what to do
to prepare for baby.
- In the absence of a striking family history,
we usually review the option of screening tests
versus diagnostic tests.
They both have pros and cons.
A lot of our patients end up starting with screening tests.
But other women don't wanna risk false positives
or negatives and prefer to go directly to diagnostic tests.
So we sort of see what makes sense for them.
- In talking about screening versus diagnostic testing,
what are the key ways that those two types of tests
are typically done?
- Screening tests are usually done by a blood draw.
So blood draw from the woman's arm.
It's noninvasive, pretty simple,
just sent to a basic laboratory.
Diagnostic tests are invasive tests.
The CVS test requires removing a small piece
of the placenta through the cervix or through the abdomen.
The amniocentesis involves putting in a needle
into that abdomen, into that amniotic sack,
and removing some liquid that's around the baby.
So those are invasive procedures.
- What are the advantages of a screening test?
- So screening tests are often noninvasive,
so there isn't a risk to the pregnancy.
And they are often less expensive for patients
who might have an out-of-pocket expense
that's high with their insurance plan.
The downsides are that there are both false positives
and false negatives with screening tests.
So we can be falsely reassuring,
or there can be a positive result that prompts us
to offer additional testing.
It can cause a lot of worry and anxiety.
And oftentimes the baby is healthy in the end.
But the pros of diagnostic testing are
that it's highly accurate,
as accurate as we can get in a pregnancy.
The downsides are that they are typically invasive
and carry a small risk of pregnancy loss.
- For a pregnant woman who comes to you
wanting to know what things she should be testing,
but, you know, a negative family history,
what do you recommend that she should be testing for?
- Generally our patients are considering testing
for certain conditions that can happen in any pregnancy.
These conditions are caused by having extra copies
of chromosomes or missing copies of chromosomes.
And they're not usually related to your family history.
They can happen sporadically in any pregnancy.
However, our risk does get a little higher for some
of these conditions as we get older.
And so that's why one of the reasons
that we draw that line in the sand at 35.
And for women who are over that line,
we just wanna make sure that they've gotten time
to discuss all of their options
and understand them very well before they choose,
whether they're doing no testing
or whether they're doing one of the specific tests.
So we have the California State Screening Program,
which involves looking at some hormones
and possibly an ultrasound,
with a very good test,
however, a slightly higher risk of a false positive,
as we call it.
So getting a positive result on that test
is not a diagnosis.
It just indicates an increased risk
and wanting to discuss further options.
And then we have the cell-free DNA test,
which is generally offered for women
who are considered at increased risk,
so either being over 35
or having other positive screen results.
And that really is looking for small pieces
of chromosomes that are in your blood.
But some of them help to represent baby
and help us see is there increased amounts
or is there cause for thinking
there might be an increased risk.
- And what is the increased risk
if there are abnormal chromosomes?
What does that mean for the pregnancy?
- So the most common chromosome is Down syndrome,
caused by an extra 21-chromosome.
There are other both more serious and less serious
chromosome problems that we can see by these screening tests
and diagnostic tests.
Some of them are Trisomy 18, Trisomy 13, Turner Syndrome.
So when we have a suspicion that there might be
one of these chromosome problems in a pregnancy,
and if we are able to confirm it with diagnostic testing,
then we have the opportunity to provide this information
for the family.
Some families are very eager to get this information
because they would like to prepare to have a baby
with special needs, to have a pediatrician set up,
to talk to family and just be ready to meet their baby
at delivery with knowing the diagnosis already.
Other families do choose to end the pregnancy
when they confirm a genetic diagnosis.
And some couples don't really know which of those two camps
they fall in, and they just know that they're anxious
and want more information as conclusively as possible.
- Once a genetic carrier status has been identified,
how do you typically counsel the family
as to how to share that information
or if they should share that information
with the rest of their family?
- Yeah, whenever we are talking to a patient
about their results or about our risk assessment,
we definitely talk about who that might influence otherwise
besides them in their family.
And we're generally encouraging of people to share
information so that they can do with that what they choose.
So it may be that their siblings aren't interested
in getting genetic testing.
But at least if you share that information,
you've given them the opportunity
to make their decision on their own.
Whereas if you keep it to yourself,
you don't know if they would have made a different decision.
So we generally encourage families to share information
about their health, about any genetic testing
that they've had.
And we can also facilitate that if it's helpful
to the patient.
So we can either have discussions with family members
or provide them with information that they can then pass on.
- Now I know the American Congress of Obstetrics
and Gynecologists has now recommended
that we routinely test all women for both cystic fibrosis
as well as spinal muscular atrophy carrier status.
When that comes out positive,
we refer to a genetic counselor.
How do you handle those visits?
So those visits usually involve a family history
to see if there's any other family history of people
who are either affected with that condition,
which usually there is not,
or other people who are known carriers,
discussing risks to family members to be a carrier.
So often people's siblings are also maybe not aware
of that possibility of being a carrier.
But the focus is usually on a current pregnancy
if the patient is pregnant.
And because of how those conditions are inherited,
usually the next step is actually having
their partner tested.
So for those sessions, it is very helpful
if the partner is able to come along
so that we can have that conversation about that next step.
Because really, the risk to the pregnancy
is highly dependent on whether that person's partner
is also a carrier.
While we're all probably carriers of some conditions,
we don't always tend to be carriers of the same conditions.
- What happens if the father of the baby
does turn out to also be a carrier?
- Then there is an increased risk for the pregnancy
to be affected with that condition.
But there is diagnostic testing that we can talk about
if someone is interested in finding out for sure.
Or we can just talk about what that condition looks like,
and then the family can help prepare for that chance,
so they can maybe meet with specialists
or just learn more and get connected.
- Is any of this testing mandatory in pregnancy?
- Absolutely not.
So it's all optional.
And sometimes couples will come and talk to us
and we'll meet for 45 minutes,
go through all the testing options,
and they'll decide they don't wanna do any testing at all.
And that's perfectly fine.
Our job is just to let them know the testing options,
sort of the pros and cons,
and see what makes sense for them and their family.
- So once testing is complete,
how does the patient usually get the information
about their testing?
- It depends on the test,
but we typically start by calling you over the phone
to discuss your results.
If they're more complicated, we welcome you to come back in
and talk in more detail.
However, it's really a conversation
with your genetic counselor
about why you were doing the test
and kind of your clinical picture up until that point,
and then incorporating this test result into that picture
to give you the context of how this affects
where you were before and where you are now.
- So is genetic counseling typically covered by insurance?
- Genetic counseling is typically covered by insurance.
Genetic testing is a little bit more variable.
We usually encourage that patients check
with their specific insurance provider to inquire
about their genetic testing benefits.
I will say that if a woman is deemed high-risk
in her pregnancy, it's more likely to be covered.
But there might be special authorizations
that need to be obtained.
There might be co-insurances, deductibles.
So it's difficult to know specifically
without checking with your insurance.
- So there seems to be increasing popularity these days
with people going online and ordering genetic tests
through the mail.
You know, what do you see as any potential advantages
or any downsides of this type of testing?
- Yeah, there's definitely pros and cons
to a lot of those tests.
- We definitely love that people are getting interested
in their genetics and proactive.
Carrier screening is really ideally done
before a pregnancy so that you have that information
and can do with it what you choose.
So the fact that people are doing that test earlier is good.
But it has some caveats to it.
And so, you know, it might be less comprehensive
than the testing we would recommend clinically.
And so it's just helpful if you can talk to your provider
about the testing that you've already had done.
And if you have a lot of questions,
we can really help you work through what testing
is most appropriate for you.
- Thank you both so much for your time and expertise
in talking with us today.
Genetic counseling is a critical part of providing
the excellent care here at UC San Diego
for healthy moms and healthy babies.
So thank you both.
- It was our pleasure. - It's our pleasure.
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