Guidelines for genetic risk assessment of hereditary breast and ovarian cancer: early disagreements and low utilization

J Gen Intern Med. 2009 Jul;24(7):822-8. doi: 10.1007/s11606-009-1009-6. Epub 2009 May 20.

Abstract

Background: BRCA1/2 testing is one of the most well-established genetic tests to predict cancer risk. Guidelines are available to help clinicians determine who will benefit most from testing.

Objective: To identify women at high risk of hereditary breast and ovarian cancer and estimate their awareness of and experience with genetic testing for cancer risk.

Design: Analyses of the 2000 and 2005 National Health Interview Surveys.

Participants: Women with no personal history of breast or ovarian cancer (n = 35,116).

Measurements: Risk of hereditary breast or ovarian cancer based on self-reported family history of cancer and national guidelines; self-reported awareness of genetic testing for cancer risk; discussion of genetic testing for cancer risk with a health professional; having undergone genetic testing for breast/ovarian cancer risk.

Results: Using guideline criteria, 0.96% of women were identified as being at high risk of hereditary breast and ovarian cancer. Among high-risk women, 54.04% were aware of genetic testing for cancer risk, 10.39% had discussed genetic testing with a health professional, and 1.41% had undergone testing for breast/ovarian cancer risk. Adjusting for survey year, high-risk women were more likely than average-risk women to have heard of genetic testing for cancer risk (RR, 1.3, 95% CI 1.2-1.4), to have discussed genetic testing with a health professional (RR 5.2, 95% CI 3.6-7.4), and to have undergone genetic testing for breast/ovarian cancer risk (RR 6.8, 95% CI 2.6-18.0).

Conclusions: We find low provision of guideline-recommended advice to women for whom testing may be appropriate and of significant clinical benefit.

Publication types

  • Practice Guideline
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • BRCA1 Protein / genetics*
  • BRCA2 Protein / genetics*
  • Breast Neoplasms / diagnosis*
  • Breast Neoplasms / genetics
  • Confidence Intervals
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Testing*
  • Geriatric Assessment*
  • Health Knowledge, Attitudes, Practice
  • Health Surveys
  • Humans
  • Middle Aged
  • Ovarian Neoplasms / diagnosis*
  • Ovarian Neoplasms / genetics
  • Risk
  • Risk Assessment
  • Time Factors
  • Young Adult

Substances

  • BRCA1 Protein
  • BRCA2 Protein