Assessing Risk
and the BRCA 1/2 Patient
September / October 2006
Genetic testing and counseling helps patients make wise
medical and lifestyle
choices.
How patients understand and translate health risks impacts
their
decision-making when it comes to treatment options. As can
be the case in
genetic testing, patients may not realize the benefits such
tests can offer.
This is particularly true for breast cancer risk evaluation.
Genetic testing
and counseling for breast cancer risk offers many benefits
to patients,
including
implementing preventative treatment options and/or lifestyle
changes that
can reduce risk.
"We can only help the patients who get to us," says
Susan
Domchek, MD,
director of the University of Pennsylvania's Cancer
Risk Evaluation Program and breast medical oncologist at the Abramson
Cancer Center of the
University of Pennsylvania. "Referring physicians familiar
with the benefits
of genetic
testing and able to recognize patients
who would benefit from it can be our greatest ally. By being
aware of the
potential for risk and encouraging these patients to seek
genetic
counseling,
physicians can help them get assistance they might not otherwise
receive."
Backed by one of the nation's largest breast cancer
research programs, the
Abramson Cancer Center was the first institution in the country
to establish
a breast and ovarian cancer risk evaluation program. A landmark
study by the
Cancer Center on breast and ovarian cancer risk reduction
after bilateral
oophorectomy contributed to new standards in treatment and
prevention.
Candidates for Evaluation
Patients who should be considered
for breast cancer risk evaluation include those:
- diagnosed
with female breast cancer under age 40.
- diagnosed with
male breast cancer.
- who have familial history of breast
and ovarian cancer.
- who have two or more close family members
with the disease.
- of Ashkenazi Jewish descent.
"Genetic testing is appropriate for both patients who
have had cancer as
well as those as yet unaffected," says
Dr. Domchek. "In women who have had breast cancer and
possess the BRCA 1 or
BRCA 2 mutation, the risk of developing ovarian cancer can
increase up to 50
percent, in which case removal of their ovaries may be a
management
strategy. Similarly, for women who have not
yet had cancer but possess these gene mutations, removal
of their ovaries
will decrease the chance of ovarian cancer
by 90 percent and reduce the risk of
breast cancer by 50 percent."
For some patients, there is also an increased risk for colon
and pancreatic
cancer as well as other forms of cancer. "The important
thing for patients to realize is that we act on this
information," says Dr. Domchek. "There are real
things that patients can do
to limit their risks once they are aware that they exist."
In fact, once risk is detected, a cancer risk management
program is
developed.
It can include more intensive screening to increase the chances
of early
detection, preventative or risk-reducing surgical
procedures and chemoprevention.
Counseling, a Vital Component
To alleviate resistance to receiving risk information, referring
physicians
may need to counsel patients about genetic testing, what
it is and how it
can help. At Penn, patients receive two appointments. The
first involves
information gathering, primarily individual and familial
medical histories.
After this session, the information is presented to a multidisciplinary
case conference, where the patient's potential for risk
and need for testing
is reviewed. At the second appointment, the patient meets
with a counselor
or nurse and a medical oncologist and
blood is drawn. Patients meet with a genetic
counselor prior to the receipt of their results.
"During the second visit we sit down with patients
and review the potential
outcomes. We ask them if they and their families are ready
for this
information," says Dr. Domchek. "Counseling needs
to occur ahead of time so
that when patients receive their results, they can process
what it means and, if necessary, begin to consider a risk
management
program."
Throughout the process, Penn
physicians, who are experts in cancer genetics, work closely
with referring
physicians, detailing the type(s) of testing that will occur
and the
results. "By sharing information with the referring
physician, we're able to
work together to form a strong support team for the patient,"
says Dr. Domchek.
Penn's Cancer Risk Evaluation Program for breast and
ovarian cancer
is offered at the following locations:
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