BALTIMOREPhysicians must help patients sort through the many
diagnostic, predictive, and therapeutic alternatives raised by
genetic testing, a trio of genetic specialists from Johns Hopkins
said at a meeting on clinical cancer genetics and genetic testing.
Discussing two case studies, Deborah K. Armstrong, MD, Barbara
Bernhardt, MS, CGC, and Florence Houn, MD, MPH, emphasized that
patients may have a hard time absorbing the welter of information
that flows from the testing process.
An Uninformed Patient
As an example, they cited the case of a 31-year-old woman of Russian
(non-Jewish) ancestry who had consulted her gynecologist with
complaints of menorrhagia and pelvic pain. Upon examination, she was
found to have an enlarged uterus and was scheduled for a
hysterectomy. Her gynecologist sent off a sample for BRCA1 gene
testing. When it came back positive for the mutation, he sent her to
Johns Hopkins for genetic counseling without giving her the test
result or any background information.
The woman had no idea what the test result was, that it meant she had
a 50% increased risk for breast cancer, or what it might imply for
her two young children. Nor had she been told the effects of surgical
She went ahead with the scheduled hysterectomy and was placed on
tamoxifen (Nolvadex) a month later. She developed serious signs of
menopause, including hot flashes and mood swings.
When she came to Hopkins, Ms. Bernhardt said, we
spent a long time talking to her. In fact, we probably overloaded her
just because she knew so little to start with. She should have gotten
more information earlier.
Nine months later, she said, the woman is doing well but now
understands that she is at increased risk for developing breast
cancer. Her mother and her aunt have now asked about genetic testing
for themselves. The mother had developed ovarian cancer at age 40 but
has survived for 18 years.
The patients three brothers, however, showed no interest in
testing, despite their own increased risk for prostate and colon
cancers. Men generally arent interested until they have
daughters, Ms. Bernhardt commented.
A Take-Charge Patient
In another case, knowledge of BRCA mutation status and family history
induced a more aggressive approach on the part of the patient. She
was a 39-year-old woman of Ashkenazi Jewish ancestry with a serious
family history of breast and other cancers.
The womans paternal grandfather died of breast cancer at age
43, and both her parents had developed the disease before age 50. Her
father also was diagnosed with laryngeal cancer and prostate cancer
in his late 60s. Furthermore, the patients sister died of
adrenal cancer in her 30s.
Both parents were tested for BRCA1 and BRCA2 mutations. The mother
was negative for the three Jewish mutations, but the
father was positive for the BRCA2 6174delT mutation.
The daughter decided to take out a large life and disability
insurance policy before submitting to the BRCA genetic tests. Her
decision about the insurance was prompted by fears that once the fact
or results of her genetic testing entered her medical record, she
might face discrimination in obtaining insurance.
Her tests indeed turned out to be positive for the BRCA2 6174delT
mutation. The news hit the patient very hard, Ms.
Bernhardt said, and she immediately decided on prophylactic
mastectomy and reconstructive surgery. Ovarian cancer screening
continues, and she is considering a future oophorectomy.
For women considering prophylactic mastectomy, Dr. Houn said that the
procedure removes all visible breast tissue, but residual germ cells
remain. Follow-up must include clinical chest examinations, she said.