Translator: Merve Kinin Reviewer: Tanya Cushman
So, I get the question all the time:
What does genetic counseling mean?
Very few people know what genetic counseling means,
and even fewer people know what they do.
So just as a little background,
genetic counselors have advanced training in human genetics and counseling,
and we work in a variety of settings.
I work here at Shodair Hospital in Helena in the Medical Genetics department,
and I work with an incredible group of people.
I work with brilliant geneticists, a wonderful nurse navigator,
other genetic counselors, a nutritionist, a psychologist
and an incredible lab staff.
And together, we try to find answers for families.
We have a unique model here at Shodair.
We actually see most of our patients at outreach sites around the state,
including on reservations.
So we take our services to the patients, which we find very valuable.
And particularly because we're able to provide cutting-edge services
to patients who are largely underserved.
So, have you ever stood there with your hand on a door handle,
repeating in your mind what you're about to tell someone
and taking a couple deep breaths,
knowing that you're about to give someone news that will change their life forever?
Have you ever held a phone to your ear and paused to hit the last number,
knowing that the person on the other end of the call
will hear news that will change their life forever.
These are not uncommon situations for me as a genetic counselor.
For me, this might mean telling you that your fetus has Down syndrome,
your newborn has cystic fibrosis,
your child's autism is due to an underlying genetic condition,
your parent has Huntington's disease,
you have a genetic predisposition to cancer.
And while I adore working with all of the patients we see in genetics,
I've developed a special interest in cancer genetics.
And I want to tell you about a patient named Mary.
So, Mary was referred to genetics at age 47
due to her family history of breast and ovarian cancer.
Mary's doctor was wondering
if there could be an underlying genetic cancer predisposition syndrome
in her family
for which Mary could also be at risk.
So when I met with Mary, we reviewed her family and personal histories,
and based on that information,
we discussed her lifetime risk of breast cancer.
In her case, her number was greater than 20%,
which qualified her for breast MRI screenings
in addition to mammograms.
So regardless of whether she chose to test or not,
her screening could be altered accordingly.
At that time, we also reviewed genetics in general.
We reviewed the genetics of cancer
and that 5 to 10% of all cancer is due to an underlying genetic predisposition.
We discussed various genetic testing options available to her,
that it was her right to test or not to test,
and what results, if she did choose to test,
would and would not mean for her.
Finally, we discussed inheritance
and what results might mean for her two adult daughters.
Based on our discussion, Mary decided to pursue genetic testing
for the two most common breast and ovarian cancer genes,
known as BRCA1 and BRCA2.
Many of you may already be familiar with the BRCA genes.
They work together as tumor suppressors.
And when they function normally, they help our bodies prevent cancer,
particularly in the breasts and in the ovaries.
When there's a change in one of those genes,
it causes a genetic condition
called hereditary breast and ovarian cancer syndrome, or HBOC for short.
About 1 in 300 people has HBOC.
And if you remember back to 2013,
a phenomenon we now call "The Angelina Jolie Effect"
swept the media.
Angelina Jolie went public
with her choice to pursue genetic counseling and genetic testing
based on her family history of cancer.
Angelina wrote that she had tested positive for a mutation
and that she had decided to pursue a prophylactic mastectomy.
Since that time,
referrals to cancer genetics clinics have drastically increased.
Testing for the BRCA genes has doubled,
and in my mind, even more importantly,
discussions among family members were enabled.
And that's exactly what happened with my patient Mary,
who was sitting around her holiday dinner table,
and talking with her relatives,
realized that some of the so-called "female cancers" in her family
were actually ovarian,
and that many more women had been diagnosed with breast cancer
than she'd realized.
It was then that she requested a referral to come see us in genetics.
So there I stood at the doorway, catching my breath
and rehearsing in my mind what I was about to say,
knowing that I would go in the room
and give Mary news that would change her life forever.
When I went in, I told Mary that she had tested positive
or that a disease mutation had been identified in her BRCA1 gene.
Her lifetime risk of breast cancer was up to 85%.
Her risk of ovarian cancer was up to 40%.
We discussed options available to her, knowing this diagnosis,
including increased screening, surgery and medication management.
We also discussed that her daughters
had a 50% chance of also inheriting that mutation from her.
Our role as genetic counselors is really to promote patient autonomy
or to enable patients to make their own decision.
We work within the patient's own culture,
belief system,
level of understanding and expectations
to ensure that they're making the best decision for him or herself.
Whether, for Mary, this means deciding between increased screening or surgery.
In other cases, it might mean helping a young adult
recently diagnosed with Huntington's disease
which career might be most appropriate.
It might mean helping a pregnant patient
figure out how to manage her very high-risk pregnancy.
Often it's helping parents of a child with autism or other developmental delays
decide which local resources might help them the most.
And so based on our discussion,
Mary chose to schedule a follow-up appointment with her doctor.
At that point, she was scheduled for a repeat mammogram,
a breast MRI and ovarian cancer screening.
When she was meeting with her doctor,
Mary mentioned that she'd been having symptoms
like bloating and lower back pain,
which she thought was due to stress from receiving the genetic diagnosis.
We fast-forward a couple weeks,
and Mary was diagnosed with stage 4 ovarian cancer.
Ovarian cancer is the deadliest of the gynecological cancers,
and Mary died within a month of that diagnosis.
Since that time, I've been working with Mary's two adult daughters
who also happen to be identical twins.
One of her daughters wants to know her genetic status
and has indicated she would have a prophylactic mastectomy
if she is found to be positive.
The other daughter does not want to know her genetic status
and will pursue screening based on family history alone.
Genetic counseling is both extremely rewarding and extremely challenging.
I think this is a great example of both.
We often find ourselves
in the middle of very complex and difficult situations,
oftentimes involving multiple family members
and oftentimes involving very difficult emotions like guilt and blame.
Mostly, we see love between family,
and it is a tremendous privilege for me
to be able to help families through those situations.
Genetics is continuing to expand.
In fact, 10 new genetic tests are added to the market every single day.
Genetics will continue to grow,
and I promise it will affect all of us to one degree or another
over the course of our lives.
I hope you consider reaching out to a genetic counselor
who can help you navigate all that information
and often a difficult situation.
Yeah, thank you.
(Laughter) (Applause)