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| From OncoLog,
February 2004, Vol. 49, No. 2 |
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Communication
Is Essential When Guiding Patients through the Maze of Genetic Breast
Cancer Screening
by Katie
Prout Matias
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Dr.
Aman U. Buzdar, a professor in the Department of Breast
Medical Oncology, advises a patient about a breast cancer diagnosis. |
Screening patients
who may have an inherited predisposition for breast cancer carries a different
set of risks and considerations than does screening for the general population.
While the actual tests are much less invasive, the psychological burden
of a positive result means that physicians must be able to communicate
with their patients and their patients’ families and help them make
tough decisions.
Only 0.1% to 0.2% of the population carries the BRCA1 or BRCA2 mutation,
but for those who have inherited this breast cancer gene, the lifetime
risk of breast cancer is very high: 55% to 85%. They also have a significantly
increased risk of ovarian cancer.
After a patient with breast cancer has been tested for an inherited genetic
mutation, it is up to her to decide whether to share the results with
the rest of her family, including her daughters or sisters, who have a
50-50 chance of carrying the gene if she does. “We encourage the
patient to share, but there are patients who don’t want to share
that information, and we have to respect their wishes. We cannot divulge
this kind of information,” said Aman U. Buzdar, M.D., a professor
in the Department of Breast Medical Oncology at The University of Texas
M. D. Anderson Cancer Center.
Laws in 40 states are designed to protect patients with genetic conditions
from discrimination by employers and insurance providers, while the federal
Health Insurance Portability and Accountability Act (HIPAA) protects patient
confidentiality. According to Dr. Buzdar, who chairs one of M. D. Anderson’s
institutional review boards, any patient, including those who choose to
participate in a clinical trial, can be assured that her information will
not be given to anyone who does not need to know it. “Our responsibility
is to the patient,” said Dr. Buzdar.
If a patient tests positive for a genetic mutation and decides to share
that information with her family members, the family members must then
make the daunting decision of whether to get tested. “It is scary
to be told you have a one-in-two chance of getting breast cancer in your
life,” said Therese Bevers, M.D., an associate professor in the
Department of Clinical Cancer Prevention. “But I try to stress to
them that it is going to help me to make recommendations that are appropriately
targeted to their level of breast cancer risk.”
Women who find that they have an inherited BRCA1 or BRCA2 mutation may
choose a wait and-see approach, often combined with increased cancer screening
and chemoprevention, or they may undergo a prophylactic bilateral mastectomy and possibly an oophorectomy
as well. “[Prophylactic surgery] cuts down the risk by 90%. Unfortunately,
we cannot say 100% because even a small amount of breast tissue could
be left,” said Dr. Buzdar. Many factors must be weighed when making
a decision based on the results of genetic testing. In addition to the
physical consequences, women often wrestle with emotional, philosophical,
moral, and religious considerations. These issues should be carefully
discussed with the woman.
Even negative results of genetic tests require discussion, Dr. Buzdar
said. “You have to explain to the person what a negative test means,”
he said. “A lot of times, the patient thinks, ‘Oh my test
is negative; I am free.’ If the test is negative, it means you are
at the same risk as the general population of women in the United States.”
Patients with negative results should also be made aware that not all
cancer-causing genes have been identified. “There are limitations
to testing. Obviously, we have not identified all the genes involved.
So it is possible to have a very strong family history where we are just
sure something is going on in the family, but we can’t identify
it. We really try to make it clear in our counseling sessions with people
that we can only test for—and rule out—the genes that we know
about,” said Dr. Bevers.
Despite the unknowns of the genome and the difficult decisions that patients
and their families must make, most experts agree that genetic screening
is beneficial. “I personally see more benefits [than drawbacks]
to genetic testing. I think it empowers people to make informed decisions,”
said Dr. Bevers. For more information on this topic or for questions about M. D. Anderson’s treatments, programs, or services, call askMDAnderson at (877) MDA-6789.
Other articles in
OncoLog, February 2004 issue:
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