so I get the question all the time what does genetic counseling mean very few
does genetic counseling mean very few
does genetic counseling mean very few people know what genetic counseling
people know what genetic counseling
people know what genetic counseling means and even fewer people know what
means and even fewer people know what
means and even fewer people know what they do so just as a little background
they do so just as a little background
they do so just as a little background genetic counselors have advanced
genetic counselors have advanced
genetic counselors have advanced training in human genetics and
training in human genetics and
training in human genetics and counseling and we work in a variety of
counseling and we work in a variety of
counseling and we work in a variety of settings I work here at shoulder
settings I work here at shoulder
settings I work here at shoulder Hospital in Helena in the medical
Hospital in Helena in the medical
Hospital in Helena in the medical genetics department and I work with an
genetics department and I work with an
genetics department and I work with an incredible group of people I work with
incredible group of people I work with
incredible group of people I work with brilliant geneticists a wonderful nurse
brilliant geneticists a wonderful nurse
brilliant geneticists a wonderful nurse navigator other genetic counselors a
navigator other genetic counselors a
navigator other genetic counselors a nutritionist a psychologist and an
nutritionist a psychologist and an
nutritionist a psychologist and an incredible lab staff and together we try
incredible lab staff and together we try
incredible lab staff and together we try to find answers for families we have a
to find answers for families we have a
to find answers for families we have a unique model here at show dare we
unique model here at show dare we
unique model here at show dare we actually see most of our patients that
actually see most of our patients that
actually see most of our patients that outreach sites around the state
outreach sites around the state
outreach sites around the state including on reservations so we take our
including on reservations so we take our
including on reservations so we take our services to the patients which we find
services to the patients which we find
services to the patients which we find very valuable and particularly because
very valuable and particularly because
very valuable and particularly because we’re able to provide cutting-edge
we’re able to provide cutting-edge
we’re able to provide cutting-edge services to patients who are largely
services to patients who are largely
services to patients who are largely underserved so have you ever stood there
underserved so have you ever stood there
underserved so have you ever stood there with your hand on a door handle
with your hand on a door handle
with your hand on a door handle repeating in your mind what you’re about
repeating in your mind what you’re about
repeating in your mind what you’re about to tell someone and taking a couple deep
to tell someone and taking a couple deep
to tell someone and taking a couple deep breaths knowing that you’re about to
breaths knowing that you’re about to
breaths knowing that you’re about to give someone news that will change their
give someone news that will change their
give someone news that will change their life forever have you ever held a phone
life forever have you ever held a phone
life forever have you ever held a phone to your ear and paused to hit the last
to your ear and paused to hit the last
to your ear and paused to hit the last number knowing that the person on the
number knowing that the person on the
number knowing that the person on the other end of the call will hear news
other end of the call will hear news
other end of the call will hear news that will change their life forever
that will change their life forever
that will change their life forever these are not uncommon situations for me
these are not uncommon situations for me
these are not uncommon situations for me as a genetic counselor for me this might
as a genetic counselor for me this might
as a genetic counselor for me this might mean telling you that your fetus has
mean telling you that your fetus has
mean telling you that your fetus has Down syndrome
Down syndrome
Down syndrome your newborn has cystic fibrosis your
your newborn has cystic fibrosis your
your newborn has cystic fibrosis your child’s autism is due to an underlying
child’s autism is due to an underlying
child’s autism is due to an underlying genetic condition your parent has
genetic condition your parent has
genetic condition your parent has Huntington’s disease you have a genetic
Huntington’s disease you have a genetic
Huntington’s disease you have a genetic predisposition to cancer and while I
predisposition to cancer and while I
predisposition to cancer and while I adore working with all of the patients
adore working with all of the patients
adore working with all of the patients we see in genetics I’ve developed a
we see in genetics I’ve developed a
we see in genetics I’ve developed a special interest in cancer genetics and
special interest in cancer genetics and
special interest in cancer genetics and I want to tell you about a patient named
I want to tell you about a patient named
I want to tell you about a patient named Mary so Mary was reefer
Mary so Mary was reefer
Mary so Mary was reefer took two Dannette X at age 47 due to her
took two Dannette X at age 47 due to her
took two Dannette X at age 47 due to her family history of breast and ovarian
family history of breast and ovarian
family history of breast and ovarian cancer mary’s doctor was wondering if
cancer mary’s doctor was wondering if
cancer mary’s doctor was wondering if there could be an underlying genetic
there could be an underlying genetic
there could be an underlying genetic cancer predisposition syndrome and her
cancer predisposition syndrome and her
cancer predisposition syndrome and her family for which Mary could also be at
family for which Mary could also be at
family for which Mary could also be at risk so when I met with Mary
risk so when I met with Mary
risk so when I met with Mary we reviewed her family and personal
we reviewed her family and personal
we reviewed her family and personal histories and based on that information
histories and based on that information
histories and based on that information we discussed her lifetime risk of breast
we discussed her lifetime risk of breast
we discussed her lifetime risk of breast cancer in her case her number was
cancer in her case her number was
cancer in her case her number was greater than 20% which qualified her for
greater than 20% which qualified her for
greater than 20% which qualified her for breast MRI screenings in addition to
breast MRI screenings in addition to
breast MRI screenings in addition to mammograms so regardless of whether she
mammograms so regardless of whether she
mammograms so regardless of whether she chose to test or not her screening could
chose to test or not her screening could
chose to test or not her screening could be altered accordingly at that time we
be altered accordingly at that time we
be altered accordingly at that time we also reviewed genetics in general we
also reviewed genetics in general we
also reviewed genetics in general we reviewed the genetics of cancer and that
reviewed the genetics of cancer and that
reviewed the genetics of cancer and that five to ten percent of all cancer is due
five to ten percent of all cancer is due
five to ten percent of all cancer is due to an underlying genetic predisposition
to an underlying genetic predisposition
to an underlying genetic predisposition we discussed various genetic testing
we discussed various genetic testing
we discussed various genetic testing options available to her that it was her
options available to her that it was her
options available to her that it was her right to test or not to test and what
right to test or not to test and what
right to test or not to test and what results if she did choose to test would
results if she did choose to test would
results if she did choose to test would and would not mean for her finally we
and would not mean for her finally we
and would not mean for her finally we discussed inheritance and what results
discussed inheritance and what results
discussed inheritance and what results might mean for her two adult daughters
might mean for her two adult daughters
might mean for her two adult daughters based on our discussion Mary decided to
based on our discussion Mary decided to
based on our discussion Mary decided to pursue genetic testing for the two most
pursue genetic testing for the two most
pursue genetic testing for the two most common breast and ovarian cancer genes
common breast and ovarian cancer genes
common breast and ovarian cancer genes known as brca1 and brca2 many of you may
known as brca1 and brca2 many of you may
known as brca1 and brca2 many of you may already be familiar with the BRCA genes
already be familiar with the BRCA genes
already be familiar with the BRCA genes they work together as tumor suppressors
they work together as tumor suppressors
they work together as tumor suppressors and when they function normally they
and when they function normally they
and when they function normally they help our bodies prevent cancer
help our bodies prevent cancer
help our bodies prevent cancer particularly in the breasts and in the
particularly in the breasts and in the
particularly in the breasts and in the ovaries when there’s a change in one of
ovaries when there’s a change in one of
ovaries when there’s a change in one of those genes it causes a genetic
those genes it causes a genetic
those genes it causes a genetic condition called hereditary breast and
condition called hereditary breast and
condition called hereditary breast and ovarian cancer syndrome or HBOC for
ovarian cancer syndrome or HBOC for
ovarian cancer syndrome or HBOC for short about 1 in 300 people has HBOC and
short about 1 in 300 people has HBOC and
short about 1 in 300 people has HBOC and if you remember back to 2013 a
if you remember back to 2013 a
if you remember back to 2013 a phenomenon we now call the Angelina
phenomenon we now call the Angelina
phenomenon we now call the Angelina Jolie effect swept the media Angelina
Jolie effect swept the media Angelina
Jolie effect swept the media Angelina Jolie went public with her choice to
Jolie went public with her choice to
Jolie went public with her choice to pursue genetic counseling and genetic
pursue genetic counseling and genetic
pursue genetic counseling and genetic testing based on her family history of
testing based on her family history of
testing based on her family history of cancer Angelina
cancer Angelina
cancer Angelina wrote that she had tested positive for a
wrote that she had tested positive for a
wrote that she had tested positive for a mutation and that she had decided to
mutation and that she had decided to
mutation and that she had decided to pursue a prophylactic mastectomy
pursue a prophylactic mastectomy
pursue a prophylactic mastectomy since that time
since that time
since that time referrals to cancer genetics clinics
referrals to cancer genetics clinics
referrals to cancer genetics clinics have drastically increased testing for
have drastically increased testing for
have drastically increased testing for the BRCA genes has doubled and in my
the BRCA genes has doubled and in my
the BRCA genes has doubled and in my mind even more importantly discussions
mind even more importantly discussions
mind even more importantly discussions among family members were enabled and
among family members were enabled and
among family members were enabled and that’s exactly what happened with my
that’s exactly what happened with my
that’s exactly what happened with my patient mary who was sitting around her
patient mary who was sitting around her
patient mary who was sitting around her holiday dinner table and talking with
holiday dinner table and talking with
holiday dinner table and talking with her relatives realized that some of the
her relatives realized that some of the
her relatives realized that some of the so-called female cancers and her family
so-called female cancers and her family
so-called female cancers and her family were actually ovarian and that many more
were actually ovarian and that many more
were actually ovarian and that many more women had been diagnosed with breast
women had been diagnosed with breast
women had been diagnosed with breast cancer than she’d realized it was then
cancer than she’d realized it was then
cancer than she’d realized it was then that she requested a referral to come
that she requested a referral to come
that she requested a referral to come see us in genetics so there I stood at
see us in genetics so there I stood at
see us in genetics so there I stood at the doorway catching my breath and
the doorway catching my breath and
the doorway catching my breath and rehearsing in my mind what I was about
rehearsing in my mind what I was about
rehearsing in my mind what I was about to say knowing that I would go in the
to say knowing that I would go in the
to say knowing that I would go in the room and give Mary news that would
room and give Mary news that would
room and give Mary news that would change her life forever when I went in I
change her life forever when I went in I
change her life forever when I went in I told Mary that she had tested positive
told Mary that she had tested positive
told Mary that she had tested positive or that a disease mutation had been
or that a disease mutation had been
or that a disease mutation had been identified in her brca1 gene her
identified in her brca1 gene her
identified in her brca1 gene her lifetime risk of breast cancer was up to
lifetime risk of breast cancer was up to
lifetime risk of breast cancer was up to 85 percent her risk of ovarian cancer
85 percent her risk of ovarian cancer
85 percent her risk of ovarian cancer was up to 40 percent we discussed
was up to 40 percent we discussed
was up to 40 percent we discussed options available to her knowing this
options available to her knowing this
options available to her knowing this diagnosis including increased screening
diagnosis including increased screening
diagnosis including increased screening surgery and medication management we
surgery and medication management we
surgery and medication management we also discussed that her daughters had a
also discussed that her daughters had a
also discussed that her daughters had a 50% chance of also inheriting that
50% chance of also inheriting that
50% chance of also inheriting that mutation from her our role as genetic
mutation from her our role as genetic
mutation from her our role as genetic counselors is really to promote patient
counselors is really to promote patient
counselors is really to promote patient autonomy or to enable patients to make
autonomy or to enable patients to make
autonomy or to enable patients to make their own decision we work within the
their own decision we work within the
their own decision we work within the patient’s own culture a belief system
patient’s own culture a belief system
patient’s own culture a belief system level of understanding and expectations
level of understanding and expectations
level of understanding and expectations to ensure that they’re making the best
to ensure that they’re making the best
to ensure that they’re making the best decision for him or herself whether for
decision for him or herself whether for
decision for him or herself whether for Mary this means deciding between
Mary this means deciding between
Mary this means deciding between increased screening or surgery in other
increased screening or surgery in other
increased screening or surgery in other cases it might mean helping a young
cases it might mean helping a young
cases it might mean helping a young adult recently diagnosed with
adult recently diagnosed with
adult recently diagnosed with Huntington’s disease which career might
Huntington’s disease which career might
Huntington’s disease which career might be most appropriate it might mean
be most appropriate it might mean
be most appropriate it might mean helping a pregnant patient figure out
helping a pregnant patient figure out
helping a pregnant patient figure out how to manage her very high-risk
how to manage her very high-risk
how to manage her very high-risk pregnancy often it’s helping parents of
pregnancy often it’s helping parents of
pregnancy often it’s helping parents of a child with autism or other
a child with autism or other
a child with autism or other developmental delays decide which local
developmental delays decide which local
developmental delays decide which local resources might help them the most
resources might help them the most
resources might help them the most and so based on our discussion mary
and so based on our discussion mary
and so based on our discussion mary chose to schedule a follow-up
chose to schedule a follow-up
chose to schedule a follow-up appointment with her doctor at that
appointment with her doctor at that
appointment with her doctor at that point she was scheduled for a repeat
point she was scheduled for a repeat
point she was scheduled for a repeat mammogram a breast MRI and ovarian
mammogram a breast MRI and ovarian
mammogram a breast MRI and ovarian cancer screening when she was meeting
cancer screening when she was meeting
cancer screening when she was meeting with her doctor Mary mentioned that
with her doctor Mary mentioned that
with her doctor Mary mentioned that she’d been having symptoms like bloating
she’d been having symptoms like bloating
she’d been having symptoms like bloating and lower back pain which she thought
and lower back pain which she thought
and lower back pain which she thought was due to stress from receiving the
was due to stress from receiving the
was due to stress from receiving the genetic genetic diagnosis he fast
genetic genetic diagnosis he fast
genetic genetic diagnosis he fast forward a couple weeks and Mary was
forward a couple weeks and Mary was
forward a couple weeks and Mary was diagnosed with stage 4 ovarian cancer
diagnosed with stage 4 ovarian cancer
diagnosed with stage 4 ovarian cancer ovarian cancer is the deadliest of the
ovarian cancer is the deadliest of the
ovarian cancer is the deadliest of the gynecological cancers and Mary died
gynecological cancers and Mary died
gynecological cancers and Mary died within a month of that diagnosis since
within a month of that diagnosis since
within a month of that diagnosis since that time I’ve been working with Mary’s
that time I’ve been working with Mary’s
that time I’ve been working with Mary’s two adult daughters who also happen to
two adult daughters who also happen to
two adult daughters who also happen to be identical twins one of her daughters
be identical twins one of her daughters
be identical twins one of her daughters wants to know her genetic status and has
wants to know her genetic status and has
wants to know her genetic status and has indicated she would have a prophylactic
indicated she would have a prophylactic
indicated she would have a prophylactic mastectomy if she is found to be
mastectomy if she is found to be
mastectomy if she is found to be positive the other daughter does not
positive the other daughter does not
positive the other daughter does not want to know her genetic status and will
want to know her genetic status and will
want to know her genetic status and will pursue screening based on family history
pursue screening based on family history
pursue screening based on family history alone genetic counseling is both
alone genetic counseling is both
alone genetic counseling is both extremely rewarding and extremely
extremely rewarding and extremely
extremely rewarding and extremely challenging and I think this is a great
challenging and I think this is a great
challenging and I think this is a great example of both we often find ourselves
example of both we often find ourselves
example of both we often find ourselves in the middle of very complex and
in the middle of very complex and
in the middle of very complex and difficult situations oftentimes
difficult situations oftentimes
difficult situations oftentimes involving multiple family members and
involving multiple family members and
involving multiple family members and oftentimes involving very difficult
oftentimes involving very difficult
oftentimes involving very difficult emotions like guilt and blame mostly we
emotions like guilt and blame mostly we
emotions like guilt and blame mostly we see love between family and it is a
see love between family and it is a
see love between family and it is a tremendous privilege for me to be able
tremendous privilege for me to be able
tremendous privilege for me to be able to help families through those
to help families through those
to help families through those situations genetics is continuing to
situations genetics is continuing to
situations genetics is continuing to expand in fact ten new genetic tests are
expand in fact ten new genetic tests are
expand in fact ten new genetic tests are added to the market every single day
added to the market every single day
added to the market every single day genetics will continue to grow and I
genetics will continue to grow and I
genetics will continue to grow and I promise it will affect all of us to one
promise it will affect all of us to one
promise it will affect all of us to one degree or another over the course of our
degree or another over the course of our
degree or another over the course of our lives
lives
lives I hope you consider reaching out to a
I hope you consider reaching out to a
I hope you consider reaching out to a genetic counselor who can help you
genetic counselor who can help you
genetic counselor who can help you navigate all that information and often
navigate all that information and often
navigate all that information and often difficult situations yeah thank you
difficult situations yeah thank you
difficult situations yeah thank you you
”
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