Journal of Genetic Counseling

, Volume 6, Issue 2, pp 223–244 | Cite as

BRCA1 Testing: Genetic Counseling Protocol Development and Counseling Issues

  • Bonnie Jeanne Baty
  • Vickie L. Venne
  • Jamie McDonald
  • Robert T. Croyle
  • Corinne Halls
  • Jean E. Nash
  • Jeffrey R. Botkin


This article discusses the genetic counseling protocols which were developed and counseling issues that have arisen in the first 2 years of evaluating a large kindred with a BRCA1 mutation. The rationale for the development of the genetic counseling protocols and specific genetic counseling visual aids are presented and discussed. The protocols and counseling aids can serve as models for other programs offering cancer susceptibility testing. The observations of study counselors about study subject concerns and responses to genetic testing at the time of the pretest and posttest counseling sessions are presented.

cancer susceptibility testing BRCA1 genetic counseling cancer predisposition 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Biesecker BB, Boehnke M, Calzone K, Markel, DS, Garber JE, Collins FS, Weber BL (1993) Genetic counseling for families with inherited susceptibility to breast and ovarian cancer. JAMA 269(15):1970–1974.Google Scholar
  2. Botkin J, Croyle R, Smith K, Baty B, Lerman C, Goldgar D, Ward J, Flick B, Nash J (1996) A model protocol for evaluating the behavioral and psychosocial effects of BRCA1 testing. JNCI 88(13):872–882.Google Scholar
  3. Cavenee WK, White RL (1995) The genetic basis of cancer. Scientific American March, p 77.Google Scholar
  4. Craufurd D, Dodge A, Kerzin-Storrar L, Harris R (1989) Uptake of presymptomatic predictive testing for Huntington disease. Lancet 603–605.Google Scholar
  5. Croyle RT, Smith KR, Botkin JR, Baty B, Nash J (1996) Psychological responses to BRCA1 mutation testing: Preliminary findings. Health Psychol (in press).Google Scholar
  6. Easton DF, Ford D, Bishop DT, and the Breast Cancer Linkage Consortium (1995) Breast and ovarian cancer incidence in BRCA1-mutation carriers. Am J Hum Genet 56:265–271.Google Scholar
  7. Ford, D, Easton D, Bishop DT, Narod SA, Goldgar DE, and the Breast Cancer Linkage Consortium (1994) Risks of cancer in BRCA1-mutation carriers. Lancet 343:692–295.Google Scholar
  8. Goldgar DE, Fields P, Lewis CM, Tran TD, Cannon-Albright LA, Ward JH, Swensen J, Skolnick MH (1994) A large kindred with 17q-linked breast and ovarian cancer: Genetic, phenotypic, and genealogical analysis. JNCI 86(3):200–209.Google Scholar
  9. Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King MC (1990) Linkage of early-onset familial breast cancer to chromosome 17q21. Science 250:1684–1689.Google Scholar
  10. Hoskins KF, Stopfer JE, Calzone KA, Merajver SD, Rebbeck TR, Garber JE, Weber BL (1995) Assessment and counseling for women with a family history of breast cancer. A guide for clinicians. JAMA 273:577–585.Google Scholar
  11. Kelly PT (1991) Understanding Breast Cancer Risk. Philadelphia: Temple University Press.Google Scholar
  12. King MC, Rowell S, Love SM (1993) Inherited breast and ovarian cancer. What are the risks? What are the choices? JAMA 269(15):1975–1980.Google Scholar
  13. Lerman C, Narod S, Schulman K, Hughes C, Gomez-Caminero A, Bonney G, Gold K, Trock B, Main D, Lynch J, Fulmore C, Snyder C, Lemon SJ, Conway T, Tonin P, Lenoir G, Lynch H (1996) BRCA1 testing in families with breast-ovarian cancer: A prospective study of patient decision-making and outcomes. JAMA 275:1885–1892.Google Scholar
  14. Miki Y, Swensen J, Shattuck-Eidens D, et al. (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66–71.Google Scholar
  15. NIH Consensus Development Panel on Ovarian Cancer (1995) Ovarian cancer: Screening, treatment and follow-up. JAMA 273:491–497.Google Scholar
  16. Peters J (1992) When a history of breast cancer is identified during a counseling session. Perspect Genet Counsel 14(3):2–3.Google Scholar
  17. Peters J, Stopfer J (1996) Role of the genetic counselor in familial cancer. Oncology 10:159–175.Google Scholar
  18. Puck SM, Fleming JP (1986) Genetics, Environment & Your Baby. A Workbook for Parents to Be. Santa Fe, NM: Vivigen, pp 21–26.Google Scholar
  19. Richards MPM, Hallowell N, Green JM, Murton F, Statham H (1995) Counseling families with hereditary breast and ovarian cancer: A psychosocial perspective. J Genet Counsel 4(3):219–233.Google Scholar
  20. Schneider KA (1994) Counseling About Cancer: Strategies for Genetics Counselors. Dennisport, MA: Graphic Illusions.Google Scholar
  21. Shattuck-Eidens D, McClure M, Simard J, Labrie F, Narod S, Couch F, Hoskins K, Weber B, Castilla L, Erdos M, Brody L, Friedman L, Ostermeyer E, Szabo C, King M-C, Jhanwar S, Offit K, Norton L, Gilewski T, Lubin M, Osborne M, Black D, Boyd M, Steel M, Ingles S, Haile R, Lindblom A, Olsson H, Borg A, Bishop DT, Solomon E, Radice P, Spatti G, Gayther S, Ponder B, Warren W, Stratton M, Liu Q, Fujimura F, Lewis C, Skolnick MH, Goldgar DE (1995) A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening. JAMA 273(7):535–541.Google Scholar
  22. Utah Cancer Registry, SEER Contract #N01CN05222.Google Scholar
  23. Wiggins S, Whyte P, Huggins M, Adam S, Theilmann J, Bloch M, Sheps SB, Schechter MT, Hayden MR (1992) The psychological consequences of predictive testing for Huntington's disease. N Eng J Med 327:1401–1405.Google Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 1997

Authors and Affiliations

  • Bonnie Jeanne Baty
    • 1
  • Vickie L. Venne
    • 2
  • Jamie McDonald
    • 3
  • Robert T. Croyle
    • 4
  • Corinne Halls
    • 5
  • Jean E. Nash
    • 6
  • Jeffrey R. Botkin
    • 1
  1. 1.Department of PediatricsUniversity of UtahSalt Lake City
  2. 2.Huntsman Cancer InstituteUniversity of UtahSalt Lake City
  3. 3.Department of Obstetrics and GynecologyUniversity of UtahSalt Lake City
  4. 4.Department of PsychologyUniversity of UtahSalt Lake City
  5. 5.Department of PsychiatryUniversity of UtahSalt Lake City
  6. 6.Department of Human GeneticsUniversity of UtahSalt Lake City

Personalised recommendations