By: Jean Johnson for Fibroids1One in 300 – 500 sounds like pretty good odds – unless you happen to be the woman with a gene that puts you at risk for breast or ovarian cancer. Still, the Agency for Healthcare Research Quality (AHRQ) Task Force under the U.S. Department of Health and Human Resources recommended against routine testing for the genetic risk of breast or ovarian cancer in the general population. “This is the first time the task force has addressed the issue of genetic counseling and DNA-based genetic for any disease,” according to the AHRQ.
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FORCE (Facing Our Risk of Cancer Empowered) is a non-profit organization for women with increased risk of cancer due to family history and genetic status, including those with possible BRCA mutations. Visit FORCE: here
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The agency task force published its recommendations in the September 2005 issue of Annals of Medicine. The AHRQ explains that “The task force is the leading independent panel of private-sector experts in prevention and primary care and conducts rigorous, impartial assessments of the scientific evidence for a broad range of preventive services. Its recommendations are considered the gold standard for clinical preventive services.”Genetic Mutations and Breast and Ovarian Cancer
The idea is that women who inherit two specific genes – BRCA1 and BRCA2 – “have a greater risk of developing breast and/or ovarian cancer, especially if their family members have had one or both of these cancers,” stated the AHRQ.
The task force goes on to explain that only about 2 percent of the general population, or one in every 300 – 500 women, are thought to have the “specific family history patterns that put them at risk for BRCA mutations.” The AHRQ underscores, however, that not every woman with the BRCA gene mutations will develop breast or ovarian cancer.
Eastern European Jewish Connection
The cohort of women who are at increased risk of inheriting either BRCA1 or BRCA2 “include those of Ashkenazi (predominantly Eastern European) Jewish descent with a first- or second-degree relative with breast or ovarian cancer,” the AHRQ noted. “A first-degree relative could be a mother, sister, or daughter; a second-degree relative might be a grandmother or an aunt.”
While the AHRQ appreciates that women in this category could be good candidates for testing, the agency suggests that “the level of risk for these women is best determined by obtaining a detailed family history and making use of standardized risk assessment tools” is the prudent approach.
Risks Associated with Genetic Testing in the General Population
The AHRQ reiterates what its task force concluded: “Women who do not have a family history of either breast or ovarian cancer and are unlikely to test positive for mutations should not be referred for testing.”
The agency says that “testing entails risks” that might not always be in a woman’s best interests.
For one, women who test positive for the gene mutations might take the drastic step of having a preventative mastectomy or oophorectomy. Removing breasts or ovaries for such reasons, says the AHRQ, could be premature and unnecessary inasmuch as some women who carry the genes might not ever get either of the dreaded cancers.
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Recognize these factors that affect your breast cancer risk:
Age
Changes in hormone levels
Age at onset of menopause
Obesity
Physical activity
Heredity
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Also, the AHRQ noted that “women who test positive for genetic mutations may also be vulnerable to job or insurance discrimination.” While both federal and state laws exist to protect citizens against this type of discrimination, the task force still felt its concerns were valid in this area. Lastly, the agency cited cost as a factor. Tests for the two genes in question can “range from several hundred to several thousand dollars, and insurance policies vary regarding coverage of genetic testing.”
Testing May Offer Significant Benefits for Women at Risk for Genetic Mutations
“A woman who gains an understanding of the risk she faces may feel less anxious and have a sense of better control of her future,” said AHRQ task force chair and chief medical officer and state epidemiologist for the Colorado Department of Public Health and Information, Ned Calonge, M.D. “If the DNA test result is positive, the patient and her physician should take a shared decision-making approach in deciding which preventative measures are appropriate.”
The ARHQ backed Calonge up, noting that “The task force found evidence in the scientific literature that women with BRCA1 and BRCA2 mutations can reduce their risk of developing breast or ovarian cancer by mastectomy or oophorectomy. Women may also choose to undergo intensive screening by frequent clinical breast examinations and mammography or preventive chemotherapy, but the benefits remain uncertain.”
