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Task force says no to routine genetic testing


The U.S. Preventive Services Task Force for the first time has issued recommendations on genetic counseling and DNA-based testing for a disease.

The U.S. Preventive Services Task Force for the first time has issued recommendations on genetic counseling and DNA-based testing for a disease.

In the Sept. 6 issue of the Annals of Internal Medicine, the USPSTF recommended against routine genetic counseling and DNA testing to detect the presence of BRCA1 and BRCA2 gene mutations that may be associated with breast or ovarian cancers. Women lacking a family history of either breast or ovarian cancer and unlikely to test positive for the mutations should not be referred for testing, according to the report.

The task force did say that physicians should suggest counseling and testing for women with specific family histories that put them at risk. The report 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 exams and mammography or preventive chemotherapy, but the benefits remain uncertain.

Only about 2% of women have family history that put them at risk for BRCA mutations. Even among women with these mutations, not everyone will actually develop breast or ovarian cancer, the report said.

Members of the task force expressed concern about potential harms involved with genetic testing, including false positives, unnecessary surgery, and job or insurance discrimination. This type of testing can cost thousands of dollars, and insurance coverage varies.

But for the few women with specific family history that puts them at risk, counseling and testing could offer reassurance.

"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 task force chair Dr. Ned Calonge. "If the DNA test result is positive, the patient and her physician should take a shared decision-making approach in deciding which preventive measures are appropriate."

For more information from the Diagnostic Imaging archives:

U.K. study strengthens case in support of breast MR screening

Yearly mammograms prove insufficient for BRCA carriers

Genetic testing points to earlier diagnosis in breast and ovarian cancer

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