USPSTF: BRCA testing guidelines now include ancestry, personal history

  • JAMA

  • curated by Miriam Davis, PhD
  • Univadis Clinical Summaries
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Takeaway

  • The U.S. Preventive Services Task Force (USPSTF) has expanded guidelines for BRCA1/2 evaluation (risk assessment, genetic counseling, and if indicated, genetic testing) to include:
    • All women with a history of breast, ovarian, tubal, or peritoneal cancer who have completed treatment and are considered cancer-free.
    • Women with ancestry (e.g., Ashkenazi Jewish heritage) associated with BRCA1/2 gene mutations.
  • No BRCA1/2 evaluation for women whose personal, family history, or ancestry history is not associated with increased risk for potentially harmful mutations.

Why this matters

  • Criteria for triggering a risk assessment are expanded from the 2013 recommendations, which limited testing to women with a positive family history.

Key findings

  • New findings are drawn from an accompanying literature review.
  • Adequate evidence has been found that benefits are moderate for risk assessment, genetic counseling, and interventions (e.g., risk-reducing medications, risk-reducing mastectomy, or salpingo-oophorectomy).
  • Adequate evidence has been found that benefits are small to none for a BRCA1/2 evaluation in women whose family history is not associated with a higher risk for harmful BRCA1/2 gene mutations.
  • Adequate evidence that harms of BRCA1/2 evaluation for new groups of women are small to moderate.