Ned Calonge, MD, MPH; Diana B. Petitti, MD, MPH
Potential Financial Conflicts of Interest: None disclosed.
Calonge N, Petitti DB. Genetic Risk Assessment and BRCA Mutation Testing. Ann Intern Med. 2006;144:376-377. doi: 10.7326/0003-4819-144-5-200603070-00018
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Published: Ann Intern Med. 2006;144(5):376-377.
We appreciate Dr. Eisinger's and Dr. Horsman's concerns about the USPSTF recommendation for BRCA screening. First, they take issue with the Task Force's use of the term “increased risk” as a criterion for offering testing. This may have more to do with semantics than substance. Clinical criteria that suggest a woman is “at risk” for breast or ovarian cancer as defined by Drs. Eisinger and Horsman might mean she is “at increased risk” according to USPSTF nomenclature. The Task Force recommends that any woman “at increased risk” be referred for genetic risk assessment and possible testing. On the other hand, the USPSTF takes exception to the suggestion that all women with a family history of breast cancer, including those with a family history that is not suggestive of a BRCA mutation, be offered testing. Most breast cancer cases are unrelated to mutations in BRCA1 and BRCA2. The testing of women without a suggestive pedigree could result in a much broader use of screening in a population with a low prevalence of mutations. By the usual rules of medical testing, this would lead to a higher risk for false-positive test results and the attendant additional harms to health. We reiterate the USPSTF conclusion that the potential harms for women who are not at increased risk outweigh the benefits.
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