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

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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.

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Acknowledgments

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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Authors and Affiliations

  1. Institute for Health Policy, Massachusetts General Hospital, 50 Staniford St., Suite 901, Boston, MA, 02114, USA

    Douglas E. Levy PhD & Alexandra E. Shields PhD

  2. Harvard/MGH Center for Genomics, Vulnerable Populations and Health Disparities, Boston, MA, USA

    Douglas E. Levy PhD & Alexandra E. Shields PhD

  3. Department of Medicine, Harvard Medical School, Boston, MA, USA

    Douglas E. Levy PhD, Judy E. Garber MPH & Alexandra E. Shields PhD

  4. Division of Population Science, Dana-Farber Cancer Institute, Boston, MA, USA

    Judy E. Garber MPH

Authors
  1. Douglas E. Levy PhD
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  3. Alexandra E. Shields PhD
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Correspondence to Douglas E. Levy PhD.

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Levy, D.E., Garber, J.E. & Shields, A.E. Guidelines for Genetic Risk Assessment of Hereditary Breast and Ovarian Cancer: Early Disagreements and Low Utilization. J GEN INTERN MED 24, 822–828 (2009). https://doi.org/10.1007/s11606-009-1009-6

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  • DOI: https://doi.org/10.1007/s11606-009-1009-6

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