Virginia A. Moyer, MD, MPH; on behalf of the U.S. Preventive Services Task Force (*)
Disclaimer: Recommendations made by the USPSTF are independent of the U.S. government. They should not be construed as an official position of the Agency for Healthcare Research and Quality or the U.S. Department of Health and Human Services.
Financial Support: The USPSTF is an independent, voluntary body. The U.S. Congress mandates that the Agency for Healthcare Research and Quality support the operations of the USPSTF.
Potential Conflicts of Interest: Disclosure forms from USPSTF members can be viewed at www.acponline.org/authors/icmje/ConflictOfInterestForms.do?msNum=M13-2747.
Requests for Single Reprints: Reprints are available from the USPSTF Web site (www.uspreventiveservicestaskforce.org).
Moyer VA, on behalf of the U.S. Preventive Services Task Force. Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: U.S. Preventive Services Task Force Recommendation Statement. Ann Intern Med. 2014;160:271-281. doi: 10.7326/M13-2747
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Published: Ann Intern Med. 2014;160(4):271-281.
Update of the 2005 U.S. Preventive Services Task Force (USPSTF) recommendation on genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility.
The USPSTF reviewed the evidence on risk assessment, genetic counseling, and genetic testing for potentially harmful BRCA mutations in asymptomatic women with a family history of breast or ovarian cancer but no personal history of cancer or known potentially harmful BRCA mutations in the family. The USPSTF also reviewed interventions aimed at reducing the risk for BRCA-related cancer in women with potentially harmful BRCA mutations, including intensive cancer screening, medications, and risk-reducing surgery.
This recommendation applies to asymptomatic women who have not been diagnosed with BRCA-related cancer.
The USPSTF recommends that primary care providers screen women who have family members with breast, ovarian, tubal, or peritoneal cancer with 1 of several screening tools designed to identify a family history that may be associated with an increased risk for potentially harmful mutations in breast cancer susceptibility genes (BRCA1 or BRCA2). Women with positive screening results should receive genetic counseling and, if indicated after counseling, BRCA testing. (B recommendation)
The USPSTF recommends against routine genetic counseling or BRCA testing for women whose family history is not associated with an increased risk for potentially harmful mutations in the BRCA1 or BRCA2 genes. (D recommendation)
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: clinical summary of U.S. Preventive Services Task Force recommendation.
Appendix Table 1. What the USPSTF Grades Mean and Suggestions for Practice
Appendix Table 2. USPSTF Levels of Certainty Regarding Net Benefit
Table 1. Ontario Family History Assessment Tool*
Table 2. Manchester Scoring System*
Table 3. Referral Screening Tool*
Table 4. Pedigree Assessment Tool*
Table 5. Family History Screen-7*
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Paoli-Calmettes Institut Marseille France
December 31, 2013
Individual or collective balance?
What is the actual meaning of D recommendation? According to its own definition the USPSTF states that it should reflect that …“There is moderate or high certainty that the service has no net benefit or that the harms outweigh the benefits.” Whose risks and whose benefits are assessed?For women with a low a priori probability to carry a BRCA harmful mutation, the utility of testing is low as a mean. However, this mean covers a high number of women with no benefit and little harm that a good pre-test information counseling cession should remove and indeed few women with a high benefit. Thus if medical resources and taskforce both for counseling and molecular testing are high, testing for women with a low probability should be labeled with a B grade (few women with a high net benefit and no risk) instead of a D grade (1). Nevertheless, from a public health perspective I fully endorse the statement of the USPSTF since physician/genetic counselor time and molecular testing will yield more global benefit tackling other conditions.1. Moyer VA. Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: U.S. Preventive Services Task Force Recommendation Statement. Ann Intern Med. 2013. Epub 2013/12/25.
Breast Cancer, Cancer Screening/Prevention, Guidelines, Hematology/Oncology, Prevention/Screening.
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