Journal of General Internal Medicine

, Volume 24, Issue 7, pp 822–828 | Cite as

Guidelines for Genetic Risk Assessment of Hereditary Breast and Ovarian Cancer: Early Disagreements and Low Utilization

  • Douglas E. LevyEmail author
  • Judy E. Garber
  • Alexandra E. Shields
Original Article



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.


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.


Analyses of the 2000 and 2005 National Health Interview Surveys.


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


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.


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).


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


guidelines genetic risk assessment hereditary breast cancer ovarian cancer BRCA1/2 testing 



This analysis was supported by a Nodal Award from the Dana-Farber/Harvard Cancer Center (A. Shields, PI). We appreciate the contributions of Emily Youatt and Richard Kwong in research assistance and manuscript preparation.

Conflict of Interest

None disclosed.


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Copyright information

© Society of General Internal Medicine 2009

Authors and Affiliations

  • Douglas E. Levy
    • 1
    • 2
    • 3
    Email author
  • Judy E. Garber
    • 3
    • 4
  • Alexandra E. Shields
    • 1
    • 2
    • 3
  1. 1.Institute for Health PolicyMassachusetts General HospitalBostonUSA
  2. 2.Harvard/MGH Center for Genomics, Vulnerable Populations and Health DisparitiesBostonUSA
  3. 3.Department of MedicineHarvard Medical SchoolBostonUSA
  4. 4.Division of Population ScienceDana-Farber Cancer InstituteBostonUSA

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