Network News - Winter/Spring 2010 - Canadian Breast Cancer ...

Informing Women of the Risks and Benefits
of Genetic Testing for Hereditary Breast and
Ovarian Cancer
Interview with Susan Armel, MS, CGC Genetic Counsellor;
Rochelle Demsky, MS, CGC Genetic Counsellor; Fran Turner
Submitted by Ovarian Cancer Canada
Genetic counsellors Susan Armel
and Rochelle Demsky worry
most about the patients they
don’t get to see.
They spend
their days at
the Familial
Breast and
Ovarian
Cancer Clinic
of Toronto’s
Princess
Margaret
Hospital
focused on a
steady stream
of patients who
come to them
for information
and guidance
about genetic
testing related
to inherited
forms of
breast and
ovarian cancer.
But they are
concerned about the many patients at
increased risk for inherited disease who
are missing the opportunity to learn
about genetic testing.
Some patients shy away from genetic
counselling because they believe that
it means they must agree to genetic
testing.“ That’s a big misconception,”
says Armel. “People need to know
that there is value in having the
information and then using it to make
an informed decision about testing.”
Approximately 10% of ovarian
cancers and 5% of breast cancers
are hereditary, meaning that a
predisposition to developing breast,
Fran Turner, National Program Director, Ovarian
Cancer Canada
ovarian and other related cancers is
being passed through the generations
of the family. Most hereditary breast
and ovarian cancers are due to
mutations or
changes in
the BRCA1 or
BRCA2 genes.
These gene
mutations can
also increase
prostate cancer
among men.
Both females
and males have
the BRCA1 and
BRCA2 genes
and a mutation
can be inherited
from a person’s
mother or father.
Some people
who are eligible
for genetic
counselling
miss the
opportunity to
consider testing because they are
not being referred. “You have to be
your own advocate and speak with
your physician,” adds Demsky.
“Anyone who is eligible for genetic
testing should be referred for genetic
counselling.”
Most eligibility criteria for counselling
and testing – whether for people already
diagnosed with ovarian or breast
cancer or for those without a personal
diagnosis – involves having a family
history of one or both of the diseases.
Although the specific criteria may differ
across the provinces and territories,
genetic counselling and testing for
gene mutations that increase the risk of
inherited ovarian and breast cancer are
available throughout the country.
For example, Demsky states that women
with invasive serous ovarian cancer
or a diagnosis of breast cancer under
age 35 are eligible for governmentfunded
testing in Ontario and should
be referred for genetic counselling. “In
these cases, they don’t need to have a
family history of the disease aside from
their own personal diagnosis.”
Fran Turner, National Director of
Programs for Ovarian Cancer Canada,
provides information and support
to women diagnosed with ovarian
cancer. She encourages those who have
a family history of ovarian, breast or
related cancers to find out if they are
eligible for genetic counselling and
testing. “If you have a family history,
you should bring this to the attention
of your doctor. Genetic counselling
is an important next step to help you
understand the risks and benefits
of genetic testing. Testing involves
dealing with complex information,
emotions and family relationships, so
having the guidance and expertise of a
genetic counsellor is critical.”
According to Demsky, “The important
thing is for the patient to really
understand what genetic testing is all
about – that it’s not just a blood test
but it has implications for the person
and their family in terms of their own
risks of getting cancer and the options
available to them.”
• Women who test positive for the
BRCA1 mutation have a 50-85%
lifetime chance of getting breast
cancer and a 20-40% lifetime risk of
ovarian cancer
Network News Winter/Spring 2010 19