Risk Assessment and Genetic Counseling for Hereditary Breast and Ovarian Cancer: Recommendations of the National Society of Genetic Counselors
- 1.7k Downloads
These cancer genetic counseling recommendations describe the medical, psychosocial and ethical implications of identifying at-risk individuals for hereditary breast and ovarian cancer (HBOC) through cancer risk assessment, with or without genetic susceptibility testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors’ Familial Cancer Risk Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment as well as the professional expertise of genetic counselors with significant experience in education and counseling regarding hereditary breast and ovarian cancer. Critical components of the process include the ascertainment of medical and family histories, determination and communication of cancer risk, assessment of risk perception, education regarding the genetics of HBOC, discussion of molecular testing for HBOC if appropriate (including benefits, risks and limitations) and any necessary follow-up. These recommendations do not dictate an exclusive course of management or guarantee a specific outcome. Moreover, they do not replace the professional judgment of a health care provider based on the clinical situation of a client.
KeywordsBRCA1 BRCA2 Hereditary breast cancer Hereditary ovarian cancer Cancer genetic counseling Risk assessment Genetic testing Family history Psychosocial assessment Medical management
The authors gratefully acknowledge the following individuals for their careful review and comments on drafts of this article: Michelle Martin, MS and Aimee Walter, MS of Myriad Genetic Laboratories, Inc., Dr. Sue Friedman (Executive Director of FORCE: Facing Our Risk of Cancer Empowered); Nettie Beyer, RN (Hematology/Oncology Clinic Coordinator and BRCA Carrier); Dr. Mary Claire King; Dr. Olufunmilayo Olopade; Dr. Wendy S. Rubinstein; Cecelia Bellcross; Kathleen Blazer; Donna Blumenthal; Joann Bodurtha; Heather Creswick; Shelly Cummings; Agnes Masny; John Quillin; Courtney Rowe-Teeter; Jeff Shaw and Jill Stopfer. We also thank members of the NSGC Genetic Services Committee and the Ethics Subcommittee.
At the time of publication and during the development of these recommendations, two of the authors (A.W. and M.M.) were employed by Myriad Genetic Laboratories, Inc. While the above NSGC recommendations do not necessarily reflect the opinions or policies of any corporate entity, the authors acknowledge the potential for the appearance of a conflict of interest.
- American Cancer Society (2006). http://www.cancer.org/downloads/STT/CAFF2006PWSecured.pdf, accessed 9/30/06.
- American College of Medical Genetics Foundation (1999). Genetic susceptibility to breast and ovarian cancer: Assessment, counseling and testing guidelines. New York: American College of Medical Genetics Foundation.Google Scholar
- American Society of Clinical Oncology (1996). Statement of the American Society of Clinical Oncology: Genetic testing for cancer susceptibility. Journal of Clinical Oncology, 14, 1730–1740.Google Scholar
- Antoniou, A. C., Pharoah, P. D., Narod, S., Risch, H. A., Eyfjord, J. E., Hopper, J. L., et al. (2005). Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: A combined analysis of 22 population based studies. Journal of Medical Genetics, 42(7), 602–603.PubMedCrossRefGoogle Scholar
- Audrain, J., Schwartz, M. D., Lerman, C., Hughes, C., Peshkin, B. N., & Biesecker, B. (1998). Psychological distress in women seeking genetic counseling for breast–ovarian cancer risk: The contributions of personality and appraisal. Annals of Behavioral Medicine, 19(4), 370–377.CrossRefGoogle Scholar
- Baker, D. L., Schuette, J. L., & Uhlmann, W. R. (Eds.) (1998). A guide to genetic counseling. New York: Wiley-Liss.Google Scholar
- Berry, D. A., Iversen, E. S. Jr., Gudbjartsson, D. F., Hiller, E. H., Garber, J. E., Peshkin, B. N., et al. (2002). BRCAPRO validation, sensitivity of genetic testing of BCRA1/BCRA2, and prevalence of other breast susceptibility genes. Journal of Clinial Oncology, 20(11), 2701–2712.PubMedCrossRefGoogle Scholar
- Daly, M. B., Axilbund, J. E., Bryant, E., Buys, S., Eng, C., Friedman, S., et al. (2006). Genetic/familial high risk assessment: Breast and ovarian, in Practice guidelines in oncology, NationalComprehensive Cancer Network (NCCN), Version 1. http://www.nccn.org/professionals/physician_gls/PDF/genetics_screening.pdf.
- Fine, B. (1999). Genetic susceptibility to breast and ovarian cancer: Assessment, counseling, and testing guidelines. Appendix IV: Psychological impact of mutation testing. http://www.health.state.ny.us/nysdoh/cancer/obcancer/contents.htm.
- Fisher, B., Costantino, J. P., Wickerham, D. L., Redmond, C. K., Kavanah, M., Cronin, W. M., et al. (1998). Tamoxifen for prevention of breast cancer: Report of the National Surgical Adjuvant Breast and Bowel Project P-1 Study. Journal of the National Cancer Institute, 90(18), 1371–1388.PubMedCrossRefGoogle Scholar
- Ford, D., Easton, D. F., Stratton, M., Narod, S., Goldgar, D., Devilee, P., et al. (1998). Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. American Journal of Human Genetics, 62(3), 676–689.PubMedCrossRefGoogle Scholar
- Foster, C., Evans, D. G., Eeles, R., Eccles, D., Ashley, S., Brooks, L., et al. (2004). Non-uptake of predictive genetic testing for BRCA1/2 among relative of known carriers: Attributes, cancer worry, and barriers to testing in a multicenter clinical cohort. Genet Test, 8(1), 23–29.PubMedCrossRefGoogle Scholar
- GeneTests (2006). http://www.genetests.org, accessed 2-16-06.
- King, M. C., Wieand, S., Hale, K., Lee, M., Walsh, T., Owens, K., et al. (2001). Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial. JAMA, 286(18), 2251–2256.PubMedCrossRefGoogle Scholar
- Myriad Genetic Laboratories BRACAnalysis® Technical Specifications (2006). http://www.myriadtests.com/provider/doc/tech_specs_brac.pdf, accessed 2/12/06.
- Narod, S. A., Brunet, J. S., Ghadirian, P., Robson, M., Heimdal, K., Neuhausen, S. L., et al. (2000). Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: A case-control study. Hereditary Breast Cancer Clinical Study Group. Lancet, 356(9245), 1876–1881.PubMedCrossRefGoogle Scholar
- National Cancer Institute (2006a). http://seer.cancer.gov/faststats/ accessed on 9/30/06.
- National Cancer Institute (2006b). Genetics of Breast and Ovarian Cancer PDQ®–Health Professional Version. Accessed at http://www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional/page1 on 3 January.
- NSGC Position Statement (1995). Prenatal and childhood testing for adult onset disorders. Position statement of the National Society of Genetic Counselors. http://www.ngsc.org/about/position/cfm#Prenatal_two.
- Rebbeck, T. R., Friebel, T., Lynch, H. T., Neuhausen, S. L., van ’t Veer, L., Garber, J. E., et al. (2004). Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: The PROSE Study Group. Journal of Clinical Oncology, 22(6), 1055–1062.PubMedCrossRefGoogle Scholar
- Rebbeck, T. R., Friebel, T., Wagner, T., Lynch, H. T., Garber, J. E., Daly, M. B., et al. (2005). Effect of short-term hormone replacement therapy on breast cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers: The PROSE Study Group. Journal of Clinical Oncology, 23(31), 7804–7810.PubMedCrossRefGoogle Scholar
- Schneider, K. (2002). Counseling about cancer: Strategies for genetic counselors (2nd ed.). New York: Wiley-Liss.Google Scholar
- Stopfer, J. E. (2000). Genetic counseling and clinical cancer genetics services. Seminars in Surgical Oncology, 18, 347–357.Google Scholar
- U.S. Preventive Services Task Force, chairman Harold C. Sox, Jr. (1995). Guide to Clinical Preventive Services (2nd ed.). Appendix A. U.S. Government Printing Office. Stock no. 017001005258.Google Scholar
- U.S. Preventive Services Task Force (2005). Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: Recommendation statement. Annals of Internal Medicine, 143(5), 355–361.Google Scholar
- van Asperen, C. J., Brohet, R. M., Meijers-Heijboer, E. J., Hoogerbrugge, N., Verhoef, S., Vasen, H. F., et al. (2005). Netherlands Collaborative Group on Hereditary Breast Cancer (HEBON). Cancer risks in BRCA2 families: Estimates for sites other than breast and ovary. Journal of Medical Genetics, 42(9), 711–719.PubMedCrossRefGoogle Scholar
- Weil, J. (2000). Psychosocial genetic counseling. New York: Oxford University Press.Google Scholar