Guidelines for Genetic Risk Assessment of Hereditary Breast and Ovarian Cancer: Early Disagreements and Low Utilization
- 185 Downloads
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.
KEY WORDSguidelines 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
- 2.National Comprehensive Cancer Network. Genetic/Familial High-Risk Assessment: Breast and Ovarian V.1.2007. Fort Washington, PA; 2007.Google Scholar
- 3.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.Google Scholar
- 4.Myriad Genetics. Myriad Genetics Awarded Three US Patents And Eight International Patents. Salt Lake City, UT; 2001:News release.Google Scholar
- 7.American Cancer Society. Leading sites of new cancer cases and deaths—2008 estimates.; 2008.Google Scholar
- 13.American Society of Clinical Oncology. Statement of the American Society of Clinical Oncology: genetic testing for cancer susceptibility, Adopted on February 20, 1996. J Clin Oncol. 1996;14(5):1730–6; discussion 1737-40.Google Scholar
- 14.Daly M. NCCN Practice Guidelines: Genetics/Familial High-Risk Cancer Screening. Oncology. 1999;13(11A):161–183.Google Scholar
- 15.American College of Medical Genetics Foundation. Genetic Susceptibility to Breast and Ovarian Cancer: Assessment, Counseling and Testing Guidelines. 1999.Google Scholar
- 17.Birkhead GS. Letter to physicians: Genetic Testing for BRCA1 and BRCA2: Information for Health Care Professionals, NYS Dept. of Health, Center for Community Health, August 22, 2007.Google Scholar
- 19.McClain MR, Palomaki GE, Hampel H, Westman JA, Haddow JE. Screen positive rates among six family history screening protocols for breast/ovarian cancer in four cohorts of women. Fam Cancer. 2008.Google Scholar
- 27.US task force clarifies who should be screened for BRCA mutations. Reuters Health Medical News 2005 September 6, 2005.Google Scholar
- 28.Bristol N. High-Risk Testing. The Washington Post 2005 September 27, 2005;F02.Google Scholar
- 29.McCullough M. Breast cancer tests get new guidelines. Philadelphia Inquirer 2005 September 7, 2005;A03.Google Scholar
- 30.Rubin R. Genetic predisposition is reason to screen, new guidelines say. USA Today 2005 September 6, 2005;7D.Google Scholar
- 33.Blumenthal D. Stimulating the Adoption of Health Information Technology. N Engl J Med. 2009.Google Scholar
- 38.Qureshi N, Wilson B, Santaguida P, et al. Collection and use of cancer family history in primary care. Evid Rep Technol Assess (Full Rep). 2007;(159):1–84.Google Scholar
- 46.Johnson A. Genetic privacy. Genetics Brief. 2002(4).Google Scholar
- 47.Mulholland WF, Jaeger AS. Genetic privacy and discrimination: a survey of state legislation. Comment. Jurimetrics. 1999;39(3):317–26.Google Scholar