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Mismatch Between Cancer Genetics Counseling and Testing Guidelines and Physician Practices

A study found that many doctors don't follow evidence-based guidelines on genetic counseling and testing for hereditary breast and ovarian cancers. As a result, too many average-risk women and too few high-risk women receive these important services.

Women with mutations in the BRCA1 or BRCA2 gene have a higher risk of getting breast and ovarian cancers. Medical treatments can reduce the risk sharply, so genetic testing is recommended for women whose personal or family history shows they may have these mutations. Genetic testing is not recommended for women at average risk because the harms of treatment outweigh the benefits.

Reseachers sent surveys to 3,200 doctors in the United States that asked about the services they would provide to women at annual exams, including how often they would refer women to genetic counseling or offer BRCA 1/2 testing. Scenarios in the survey varied the patients' characteristics, such as age, race, insurance status, and ovarian cancer risk.

A total of 1,878 doctors answered the survey, with the following results—

  • 41% of the doctors surveyed said they would refer high-risk women for genetic counseling or testing, consistent with the guidelines.
  • 29% of the doctors surveyed said they would sometimes or always refer average-risk women for genetic counseling and testing, against the guidelines.

Doctors need to be encouraged to offer genetic counseling and testing services to high-risk women and discouraged from offering them to average-risk women.

Citation: Trivers KF, Baldwin L-M, Miller JW, Matthews B, Andrilla CHA, Lishner DM, Goff BA. Reported referral for genetic counseling or BRCA 1/2 testing among United States physicians: A vignette-based study. Cancer 2011.

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