The U.S. Preventive Services Task Force (USPSTF) grades its recommendations (A, B, C, D, or I) and the quality of the overall evidence for a service (good, fair, poor). The definitions of these grades can be found at the end of the "Major Recommendations" field.

The USPSTF recommends against routine referral for genetic counseling or routine breast cancer susceptibility genes (BRCA) testing for women whose family history is not associated with an increased risk for deleterious mutations in breast cancer susceptibility gene 1 (BRCA1) or breast cancer susceptibility gene 2 (BRCA2). D recommendation

The USPSTF found fair evidence that women without certain specific family history patterns, termed here "increased risk family history" (see Clinical Considerations for a definition of this term) have a low risk for developing breast or ovarian cancer associated with BRCA1 or 2 mutations. Thus, any benefit to routine screening of these women for BRCA1 or 2 mutations, or routine referral for genetic counseling, would be small or zero.

The USPSTF found fair evidence regarding important adverse ethical, legal, and social consequences that could result from routine referral and testing of these women. Interventions such as prophylactic surgery, chemoprevention, or intensive screening have known harms. The USPSTF estimated that the magnitude of these potential harms is small or greater.

The USPSTF concluded that the potential harms of routine referral for genetic counseling or BRCA testing in these women outweigh the benefits.

The USPSTF recommends that women whose family history is associated with an increased risk for deleterious mutations in BRCA1 or BRCA2 genes be referred for genetic counseling and evaluation for BRCA testing. B recommendation

The USPSTF found fair evidence that women with certain specific family history patterns ("increased risk family history") have an increased risk for developing breast or ovarian cancer associated with BRCA1 or 2 mutations. The USPSTF determined that these women would benefit from genetic counseling that allows informed decision-making about testing and further prophylactic treatment. This counseling should be done by suitably trained health care providers. There is insufficient evidence to determine the benefits of chemoprevention or intensive screening in improving health outcomes in these women if they test positive for deleterious BRCA1 or 2 mutations. However, there is fair evidence that prophylactic surgery for these women significantly decreases breast and ovarian cancer incidence. Thus, the potential benefits of referral and discussion of testing and prophylactic treatment for these women may be substantial.

The USPSTF also found insufficient evidence regarding important adverse ethical, legal, and social consequences that could result from referral and testing high risk women. Prophylactic surgery is associated with known harms. The USPSTF estimated that the magnitude of these potential harms is small.

The USPSTF concluded that the benefits of referring women with an increased risk family history to suitably trained healthcare providers outweigh the harms.

Clinical Considerations

Corresponding Author: Ned Calonge, MD, MPH, Chair, U.S. Preventive Services Task Force (USPSTF), c/o Program Director, USPSTF, Agency for Healthcare Research and Quality

Task Force Members*: Alfred O. Berg, MD, MPH, Chair, USPSTF (Professor and Chair, Department of Family Medicine, University of Washington, Seattle, WA); Janet D. Allan, PhD, RN, CS, Vice-chair, USPSTF (Dean, School of Nursing, University of Maryland Baltimore, Baltimore, MD); Ned Calonge, MD, MPH (Chief Medical Officer and State Epidemiologist, Colorado Department of Public Health and Environment, Denver, CO); Paul S. Frame, MD (Family Physician, Tri-County Family Medicine, Cohocton, NY, and Clinical Professor of Family Medicine, University of Rochester, Rochester, NY); Leon Gordis, MD, MPH, DrPH (Professor, Epidemiology Department, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD); Kimberly D. Gregory, MD, MPH (Director, Women's Health Service Research and Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center, Los Angeles, CA); Russell Harris, MD, MPH (Professor of Medicine, Sheps Center for Health Services Research, University of North Carolina School of Medicine, Chapel Hill, NC); Mark S. Johnson, MD, MPH (Professor and Chair, Department of Family Medicine, University of Medicine and Dentistry of New Jersey-New Jersey Medical School, Newark, NJ); Jonathan D. Klein, MD, MPH (Associate Professor, Department of Pediatrics, University of Rochester School of Medicine, Rochester, NY); Carol Loveland-Cherry, PhD, RN (Executive Associate Dean, Office of Academic Affairs, University of Michigan School of Nursing, Ann Arbor, MI); Virginia A. Moyer, MD, MPH (Professor, Department of Pediatrics, University of Texas Health Sciences Center, Houston, TX); Judith K. Ockene, PhD (Professor of Medicine and Chief of Division of Preventive and Behavioral Medicine, University of Massachusetts Medical School, Worcester, MA); Diana B. Petitti, MD, MPH (Senior Scientific Advisor for Health Policy and Medicine, Kaiser Permanente Southern California, Pasadena, CA); Albert L. Siu, MD, MSPH (Professor and Chairman, Brookdale Department of Geriatrics and Adult Development, Mount Sinai Medical Center, New York, NY); Steven M. Teutsch, MD, MPH (Executive Director, Outcomes Research and Management, Merck & Company, Inc., West Point, PA); and Barbara P. Yawn, MD, MSc (Director of Research, Olmstead Research Center, Rochester, MN)

The following are available:

Evidence Reviews:

• Nelson HD, Huffman LH, Fu R, Harris EL. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: systematic evidence review for the U.S. Preventive Services Task Force. Ann Intern Med; 2005 Sep 6;143(5):362-79.

The following are available:

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