Guidelines for genetic risk assessment of hereditary breast and ovarian cancer: early disagreements and low utilization
- PMID: 19455369
- PMCID: PMC2695518
- DOI: 10.1007/s11606-009-1009-6
Guidelines for genetic risk assessment of hereditary breast and ovarian cancer: early disagreements and low utilization
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.
References
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- National Comprehensive Cancer Network. Genetic/Familial High-Risk Assessment: Breast and Ovarian V.1.2007. Fort Washington, PA; 2007.
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- US Preventive Services Taskforce Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement. Ann Intern Med. 2005;143(5):355–61. - PubMed
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- Myriad Genetics. Myriad Genetics Awarded Three US Patents And Eight International Patents. Salt Lake City, UT; 2001:News release.
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