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In September 2002 Myriad Genetics became the first company to begin actively
advertising their service of genetic testing. The company manufacturers a test that allows
women to learn if they carry mutations of BRCA1 (breast
cancer gene 1) or BRCA2 (breast cancer gene 2), which
can significantly increase their risk of both breast cancer and ovarian cancer. Experts say this could be the beginning
of increased advertising for healthcare services such as genetic testing as science
becomes more advanced. They also worry that the advertising could mislead many women into
thinking they need to undergo the controversial genetic testing.
BRCA gene mutations account for approximately 5% of breast cancer cases and
approximately 9% of ovarian cancer cases. According to research by the Mayo Health Clinic,
20% of women who carry BRCA1 mutations will develop breast cancer by age 40, over 50% of
women with BRCA1 mutations will get the disease by age 50, and over 80% of these women
will be diagnosed with breast cancer by age 60. In addition, the lifetime ovarian cancer
risk for women with BRCA1 or BRCA2 mutations is estimated to be between 17% and 44%.
This past September, Myriad began advertising in two markets: Atlanta and Denver, which
represent 3% of the total eligible population. Myriad Genetics introduced their genetic
test for BRCA gene mutations, the BRACAnalysis, in 1996. The cost of the test is $325 for
a specific mutation and up to $2,760 for any of the approximately 2,000 identified BRCA
mutations. Many insurance companies will cover a majority of the cost of the test, though
few will cover the entire cost. Approximately 20,000 women have undergone BRCA gene
testing since 1996.
Some experts, including Robin L. Bennett, a genetic counselor and president-elect of
the National Society of Genetic Counselors acknowledge that the advertisements do suggest
that women talk to their doctors about genetic testing prior to having the test. However,
Bennett complains that the ads do not clearly explain the implications of testing positive
for a BRCA gene mutation. Also, Bennett says that doctors are more likely than genetic
counselors to advise genetic testing.
To test for BRCA1 or BRCA2 mutations, a small sample of blood is drawn, and the DNA is
analyzed for BRCA defects. Both men and women may inherit and pass on BRCA1 or BRCA2
mutations. According to the Mayo Clinic, families that typically pass on BRCA defects have
the following characteristics:
- Breast cancer in two or more close relatives, such as a mother and two sisters
- Early onset of breast cancer in family members, often before age fifty
- History of breast cancer in more than one generation
- Cancer in both breasts in one or more family members
- Frequent occurrence of ovarian cancer
- Eastern and Central European (Ashkenazi) Jewish ancestry, with a family history of
breast and/or ovarian cancer (researchers have identified two types of BRCA1 mutations and
one BRCA2 mutation that are especially prominent in this group)
Genetic testing has been a controversial topic among medical professionals for several
years now. Women with a strong family history of breast and/or ovarian cancer should weigh
the advantages and disadvantages of genetic testing carefully before reaching a decision.
Though most testing centers require genetic counseling prior to testing, all women
considering genetic testing should discuss their situation with a counselor or physician.
Advantages to testing for BRCA mutations:
- Women may feel relieved knowing for certain whether or not they are at a higher risk for
breast cancer.
- Women with breast cancer may have better responses to certain treatments that are
specifically designed for BRCA positive patients.
- Women may take preventive measures to help reduce their risk of breast cancer if they
test positive for BRCA mutations (these should be discussed with a physician).
- Other family members may decide if they wish to be tested for BRCA mutations based on
the results of a woman’s test. (However, testing positive for BRCA mutations does not
necessarily mean a woman will develop breast cancer. She is at higher than average risk
for the disease, though).
Disadvantages to testing for BRCA mutations:
- Women may become worried, panicked, or stressed if they discover they have a higher than
average risk for breast cancer.
- Women who test positive for BRCA mutations are faced with the difficulty of telling
family members (some of whom may also be at increased risk for breast cancer).
- Women who test negative for BRCA mutations may falsely believe they will never get
breast cancer.
- Women who test positive for BRCA mutations may have to deal with complications with
health insurance (if they are not tested anonymously). To date, no studies show that
health insurance providers will reduce coverage or cancel a policy based on genetic test
results. However, women should be made aware of the possibility.
Additional Resources and References
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