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Task Force issues recommendation against routing testing for genetic risk of breast or ovarian cancer in the general population

Primary care physicians should not routinely refer all women for genetic counseling and DNA testing to detect the presence of specific BRCA1 and BRCA2 gene mutations that may be associated with breast or ovarian cancers, according to a new recommendation from the U.S. Preventive Services Task Force. However, if a woman has certain specific family history patterns that put her at risk for these gene mutations, her primary care physician should suggest counseling and possible DNA testing.

This is the first time the Task Force has addressed the issue of genetic counseling and DNA-based genetic testing for any disease. These recommendations, along with a review of the supporting evidence, appear in the September 6, 2005, issue of the Annals of Internal Medicine. Select to access the recommendations online.

BRCA1 and BRCA2 are genes that help control normal cell growth. Women who inherit specific changes or mutations in one or both of these genes have a greater risk of developing breast and/or ovarian cancer, especially if their family members have had one or both of these cancers. However, only a small number of women (about 2 percent) have the specific family history patterns that put them at risk for BRCA mutations. In the general population, only about 1 in 300 to 1 in 500 women are believed to have these harmful genetic mutations. Even among women with these mutations, not everyone will actually develop breast or ovarian cancer.

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. The Task Force does recommend that, starting at age 40, all women should be screened for breast cancer using mammography.

The Task Force recommends against routine referral for genetic counseling or BRCA testing for women whose family history does not indicate an elevated risk. The Task Force does recommend that women whose family history indicates an increased likelihood of harmful BRCA1 and BRCA2 mutations be referred for genetic counseling and evaluation for BRCA testing.

The Task Force, sponsored by the Agency for Healthcare Research and Quality, 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. For this recommendation, the Task Force based its conclusions on a report from a research team led by Heidi D. Nelson, M.D., M.P.H., at AHRQ's Evidence-based Practice Center at Oregon Health & Science University in Portland.

Details are in "Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: Recommendation statement," by the U.S. Preventive Services Task Force, in the September 6, 2005, Annals of Internal Medicine, 143(5), pp. 355-361.

See also, "Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: Systematic evidence review for the U.S. Preventive Services Task Force," by Heidi D. Nelson, M.D., M.P.H., Laurie Hoyt Huffman, M.S., Rongwei Fu, Ph.D., and Emily L. Harris, Ph.D., M.P.H., in the same journal, pp. 362-379.

Editor's Note: Task Force recommendations and materials for clinicians are available on the AHRQ Web. Go to www.ahrq.gov/clinic/uspstfix.htm for more information on this recommendation as well as previous Task Force recommendations, including screening for bladder, breast, colorectal, cervical, lung, ovarian, oral, pancreatic, prostate, skin, testicular, and thyroid cancers. Print materials are available from the AHRQ Publications Clearinghouse. Clinical information is also available from AHRQ's National Guideline Clearinghouse™ at http://www.guideline.gov.

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