Practice Advisory: FDA authorization of BRCA1 and bRCA2 gene mutation to direct consumer testing

Question 1

ACOG discourages direct-to-consumer genetic testing. This same recommendation applies to the 23andMe BRCA1 and BRCA2 mutation testing, based on significant concerns related to testing in the absence of appropriate pre- and post-test counseling.

Answer 1

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Question 2

One of the main concerns about this specific test for BRCA mutations is the lack of reassurance associated with a “negative” test result. Since the test only evaluates for the presence of three mutations within two genes, a negative test does not exclude the possibility of other mutations within the BRCA1 or BRCA2 genes or other genes known to be associated with hereditary breast and ovarian cancer syndromes. A negative test for three specific mutations may lead to false reassurance for an individual woman, and the potential that she will not obtain the appropriate evaluation and counseling to determine if she may be a candidate for additional testing using a more expanded panel or benefit from enhanced screening protocols.

Answer 2

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Question 3

Direct-to-consumer test results should NOT be used as the sole basis for counseling regarding cancer risk, and should NOT be the sole determinant of subsequent follow-up and consideration of risk-reducing strategies.

Answer 3

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