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 shoulder
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 show dare we
actually see most of our patients that
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 reefer
took two Dannette X 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 and 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
five to ten percent 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 and 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 percent her risk of ovarian cancer
was up to 40 percent 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 a 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 genetic diagnosis he 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 and 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 ten 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
difficult situations yeah thank you you