This Article Full Text Full Text (PDF) Purchase Article View Shopping Cart Alert me when this article is cited Alert me if a correction is posted Services Email this article to a colleague Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Save to my personal folders Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Chen, W. Y. Articles by Li, F. P. Search for Related Content PubMed PubMed Citation Articles by Chen, W. Y. Articles by Li, F. P.

BRCA1/2 Genetic Testing in the Community Setting

By Wendy Y. Chen, Judy E. Garber, Suzanne Higham, Katherine A. Schneider, Katie B. Davis, Amie M. Deffenbaugh, Thomas S. Frank, Rebecca S. Gelman, Frederick P. Li

From the Departments of Adult Oncology and Biostatistical Science, Dana-Farber Cancer Institute, and Channing Laboratory, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA; Clinical Operational Research Unit, University College London, London, United Kingdom; and Myriad Genetic Laboratories, Inc, Salt Lake City, UT.
Deceased.

Address reprint requests to Wendy Y. Chen, MD, Dana-Farber Cancer Institute, 44 Binney St, Boston, MA 02115; email wendy_chen{at}dfci.harvard.edu

PURPOSE: BRCA1/2 genetic testing has been commercially available in the United States since 1996. Most published reports described BRCA1/2 testing as research studies at large academic centers, but less is known about testing in the community. This study evaluates the process and early outcomes of BRCA1/2 genetic testing as a clinical service in the community setting.

METHODS: Surveys were mailed to women in the United States whose health care providers ordered BRCA1/2 genetic testing from Myriad Genetic Laboratories from August 1998 through July 2000. Women tested at 149 large academic centers were excluded. Main outcome measures were demographic characteristics, recall of and satisfaction with the genetic testing process, and likelihood of pursuing cancer prevention strategies.

RESULTS: Among the 646 respondents, 414 (64%) had a personal history of cancer and 505 (78%) had at least one first-degree relative with breast and/or ovarian cancer. Most subjects (82%) recalled discussions of informed consent before testing (median time, 30 minutes). Genetic results were conveyed during an office visit (57%), by telephone (39%), or by mail (3%). More than 75% of respondents were "very satisfied with the counseling received." Cancer-free subjects with a germline mutation were more likely to consider prevention strategies after receiving the genetic results.

CONCLUSION: Virtually all respondents had a personal and/or family history of breast/ovarian cancer. Although pretest and posttest communications were not standardized, overall satisfaction with clinical breast cancer genetic testing was high. Additional follow-up will provide data on future cancer prevention practices and cancer incidence.

Myriad staff assisted in the recruitment procedures, questionnaire distribution, and database creation but not in data analysis or interpretation.

Preliminary data on a subset of study subjects were presented at the Thirty-Fifth Annual Meeting of the American Society of Clinical Oncology, Atlanta, GA, May 15-18, 1999.

This article has been cited by other articles:

				E. M. John, A. Miron, G. Gong, A. I. Phipps, A. Felberg, F. P. Li, D. W. West, and A. S. Whittemore Prevalence of Pathogenic BRCA1 Mutation Carriers in 5 US Racial/Ethnic Groups JAMA, December 26, 2007; 298(24): 2869 - 2876. [Abstract] [Full Text] [PDF]

				S. T. Vadaparampil, L. Wideroff, N. Breen, and E. Trapido The Impact of Acculturation on Awareness of Genetic Testing for Increased Cancer Risk among Hispanics in the Year 2000 National Health Interview Survey. Cancer Epidemiol. Biomarkers Prev., April 1, 2006; 15(4): 618 - 623. [Abstract] [Full Text] [PDF]

				K. Armstrong, E. Micco, A. Carney, J. Stopfer, and M. Putt Racial Differences in the Use of BRCA1/2 Testing Among Women With a Family History of Breast or Ovarian Cancer JAMA, April 13, 2005; 293(14): 1729 - 1736. [Abstract] [Full Text] [PDF]

				R. L. Milne, J. A. Knight, E. M. John, G. S. Dite, R. Balbuena, A. Ziogas, I. L. Andrulis, D. W. West, F. P. Li, M. C. Southey, et al. Oral Contraceptive Use and Risk of Early-Onset Breast Cancer in Carriers and Noncarriers of BRCA1 and BRCA2 Mutations Cancer Epidemiol. Biomarkers Prev., February 1, 2005; 14(2): 350 - 356. [Abstract] [Full Text] [PDF]

				A. S. Whittemore, G. Gong, E. M. John, V. McGuire, F. P. Li, K. L. Ostrow, R. DiCioccio, A. Felberg, and D. W. West Prevalence of BRCA1 Mutation Carriers among U.S. Non-Hispanic Whites Cancer Epidemiol. Biomarkers Prev., December 1, 2004; 13(12): 2078 - 2083. [Abstract] [Full Text] [PDF]