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. 2000 Nov;37(11):866–874. doi: 10.1136/jmg.37.11.866

An evaluation of needs of female BRCA1 and BRCA2 carriers undergoing genetic counselling

K Metcalfe 1, A Liede 1, E Hoodfar 1, A Scott 1, W Foulkes 1, S Narod 1
PMCID: PMC1734476  PMID: 11073541

Abstract

BACKGROUND—The discovery of the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2 has improved our ability to counsel women at increased risk of developing breast and ovarian cancer. The objective of our study was to identify the needs of women who have undergone genetic counselling and testing for BRCA1/2 and to determine the impact of receiving a positive BRCA1/2 result. This is the first study to report on a large group of women who have received positive BRCA1/2 mutation results.
METHODS—Questionnaires were distributed to 105 women who had received pre- and post-test genetic counselling for a positive BRCA1/2 result at the University of Toronto or at McGill University in Montreal, Canada between the years of 1994 and 1998. The questionnaire items included patient motivation for seeking genetic services, information needs, screening and prophylactic surgery practices, satisfaction with access to services and support, the desire for a support group, and overall client satisfaction.
RESULTS—Seventy nine female carriers were surveyed. The majority of the respondents (77%) were satisfied with the information they received during the genetic counselling process. Women with a previous diagnosis of cancer indicated that they needed more information relating to cancer treatment compared to women without cancer (p=0.05). Nineteen percent of the women felt they needed more support than was received. Fifty eight percent of the women reported that their screening practices had changed since they received their result. Young women (below the age of 50) and women with no previous diagnosis of cancer were most likely to have changed their screening practices. Nearly two thirds of the respondents said they had considered prophylactic surgery of the breasts or ovaries. Twenty eight percent of the women had prophylactic mastectomy and 54% had undergone prophylactic oophorectomy. Women with an educational level of high school or more were more likely to have undergone prophylactic bilateral mastectomy than those with less education (p=0.07) but were less likely to undergo prophylactic oophorectomy (p=0.0007).
CONCLUSION—These findings have a direct impact on the counselling and risk management of female BRCA mutation carriers. Age, education, and a previous diagnosis of cancer are important determinants in a woman's decision making after receiving positive genetic test results.


Keywords: genetic counselling; BRCA1; BRCA2; cancer genetics

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Selected References

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  1. Audrain J., Rimer B., Cella D., Garber J., Peshkin B. N., Ellis J., Schildkraut J., Stefanek M., Vogel V., Lerman C. Genetic counseling and testing for breast-ovarian cancer susceptibility: what do women want? J Clin Oncol. 1998 Jan;16(1):133–138. doi: 10.1200/JCO.1998.16.1.133. [DOI] [PubMed] [Google Scholar]
  2. Biesecker B. B., Boehnke M., Calzone K., Markel D. S., Garber J. E., Collins F. S., Weber B. L. Genetic counseling for families with inherited susceptibility to breast and ovarian cancer. JAMA. 1993 Apr 21;269(15):1970–1974. [PubMed] [Google Scholar]
  3. Bleiker E. M., Aaronson N. K., Menko F. H., Hahn D. E., van Asperen C. J., Rutgers E. J., ten Kate L. P., Leschot N. J. Genetic counseling for hereditary cancer: a pilot study on experiences of patients and family members. Patient Educ Couns. 1997 Sep-Oct;32(1-2):107–116. doi: 10.1016/s0738-3991(97)00067-0. [DOI] [PubMed] [Google Scholar]
  4. Botkin J. R., Croyle R. T., Smith K. R., Baty B. J., Lerman C., Goldgar D. E., Ward J. M., Flick B. J., Nash J. E. A model protocol for evaluating the behavioral and psychosocial effects of BRCA1 testing. J Natl Cancer Inst. 1996 Jul 3;88(13):872–882. doi: 10.1093/jnci/88.13.872. [DOI] [PubMed] [Google Scholar]
  5. DudokdeWit A. C., Tibben A., Duivenvoorden H. J., Niermeijer M. F., Passchier J., Trijsburg R. W. Distress in individuals facing predictive DNA testing for autosomal dominant late-onset disorders: comparing questionnaire results with in-depth interviews. Rotterdam/Leiden Genetics Workgroup. Am J Med Genet. 1998 Jan 6;75(1):62–74. doi: 10.1002/(sici)1096-8628(19980106)75:1<62::aid-ajmg14>3.0.co;2-q. [DOI] [PubMed] [Google Scholar]
  6. Ford D., Easton D. F., Bishop D. T., Narod S. A., Goldgar D. E. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet. 1994 Mar 19;343(8899):692–695. doi: 10.1016/s0140-6736(94)91578-4. [DOI] [PubMed] [Google Scholar]
  7. Hartmann L. C., Schaid D. J., Woods J. E., Crotty T. P., Myers J. L., Arnold P. G., Petty P. M., Sellers T. A., Johnson J. L., McDonnell S. K. Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med. 1999 Jan 14;340(2):77–84. doi: 10.1056/NEJM199901143400201. [DOI] [PubMed] [Google Scholar]
  8. Hoskins K. F., Stopfer J. E., Calzone K. A., Merajver S. D., Rebbeck T. R., Garber J. E., Weber B. L. Assessment and counseling for women with a family history of breast cancer. A guide for clinicians. JAMA. 1995 Feb 15;273(7):577–585. [PubMed] [Google Scholar]
  9. Kash K. M., Holland J. C., Halper M. S., Miller D. G. Psychological distress and surveillance behaviors of women with a family history of breast cancer. J Natl Cancer Inst. 1992 Jan 1;84(1):24–30. doi: 10.1093/jnci/84.1.24. [DOI] [PubMed] [Google Scholar]
  10. Kelly P. T. Informational needs of individuals and families with hereditary cancers. Semin Oncol Nurs. 1992 Nov;8(4):288–292. doi: 10.1016/0749-2081(92)90042-2. [DOI] [PubMed] [Google Scholar]
  11. Lerman C., Biesecker B., Benkendorf J. L., Kerner J., Gomez-Caminero A., Hughes C., Reed M. M. Controlled trial of pretest education approaches to enhance informed decision-making for BRCA1 gene testing. J Natl Cancer Inst. 1997 Jan 15;89(2):148–157. doi: 10.1093/jnci/89.2.148. [DOI] [PubMed] [Google Scholar]
  12. Lerman C., Daly M., Masny A., Balshem A. Attitudes about genetic testing for breast-ovarian cancer susceptibility. J Clin Oncol. 1994 Apr;12(4):843–850. doi: 10.1200/JCO.1994.12.4.843. [DOI] [PubMed] [Google Scholar]
  13. Lerman C., Hughes C., Lemon S. J., Main D., Snyder C., Durham C., Narod S., Lynch H. T. What you don't know can hurt you: adverse psychologic effects in members of BRCA1-linked and BRCA2-linked families who decline genetic testing. J Clin Oncol. 1998 May;16(5):1650–1654. doi: 10.1200/JCO.1998.16.5.1650. [DOI] [PubMed] [Google Scholar]
  14. Lerman C., Narod S., Schulman K., Hughes C., Gomez-Caminero A., Bonney G., Gold K., Trock B., Main D., Lynch J. BRCA1 testing in families with hereditary breast-ovarian cancer. A prospective study of patient decision making and outcomes. JAMA. 1996 Jun 26;275(24):1885–1892. [PubMed] [Google Scholar]
  15. Lerman C., Schwartz M. D., Lin T. H., Hughes C., Narod S., Lynch H. T. The influence of psychological distress on use of genetic testing for cancer risk. J Consult Clin Psychol. 1997 Jun;65(3):414–420. doi: 10.1037//0022-006x.65.3.414. [DOI] [PubMed] [Google Scholar]
  16. Lerman C., Schwartz M. Adherence and psychological adjustment among women at high risk for breast cancer. Breast Cancer Res Treat. 1993 Nov;28(2):145–155. doi: 10.1007/BF00666427. [DOI] [PubMed] [Google Scholar]
  17. Lerman C., Seay J., Balshem A., Audrain J. Interest in genetic testing among first-degree relatives of breast cancer patients. Am J Med Genet. 1995 Jul 3;57(3):385–392. doi: 10.1002/ajmg.1320570304. [DOI] [PubMed] [Google Scholar]
  18. Lynch H. T., Lemon S. J., Durham C., Tinley S. T., Connolly C., Lynch J. F., Surdam J., Orinion E., Slominski-Caster S., Watson P. A descriptive study of BRCA1 testing and reactions to disclosure of test results. Cancer. 1997 Jun 1;79(11):2219–2228. doi: 10.1002/(sici)1097-0142(19970601)79:11<2219::aid-cncr21>3.0.co;2-y. [DOI] [PubMed] [Google Scholar]
  19. Lynch H. T., Watson P., Tinley S., Snyder C., Durham C., Lynch J., Kirnarsky Y., Serova O., Lenoir G., Lerman C. An update on DNA-based BRCA1/BRCA2 genetic counseling in hereditary breast cancer. Cancer Genet Cytogenet. 1999 Mar;109(2):91–98. doi: 10.1016/s0165-4608(98)00165-4. [DOI] [PubMed] [Google Scholar]
  20. Smith K. R., West J. A., Croyle R. T., Botkin J. R. Familial context of genetic testing for cancer susceptibility: moderating effect of siblings' test results on psychological distress one to two weeks after BRCA1 mutation testing. Cancer Epidemiol Biomarkers Prev. 1999 Apr;8(4 Pt 2):385–392. [PubMed] [Google Scholar]
  21. Struewing J. P., Hartge P., Wacholder S., Baker S. M., Berlin M., McAdams M., Timmerman M. M., Brody L. C., Tucker M. A. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med. 1997 May 15;336(20):1401–1408. doi: 10.1056/NEJM199705153362001. [DOI] [PubMed] [Google Scholar]
  22. Wagner T. M., Möslinger R., Langbauer G., Ahner R., Fleischmann E., Auterith A., Friedmann A., Helbich T., Zielinski C., Pittermann E. Attitude towards prophylactic surgery and effects of genetic counselling in families with BRCA mutations. Austrian Hereditary Breast and Ovarian Cancer Group. Br J Cancer. 2000 Apr;82(7):1249–1253. doi: 10.1054/bjoc.1999.1086. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Wooster R., Bignell G., Lancaster J., Swift S., Seal S., Mangion J., Collins N., Gregory S., Gumbs C., Micklem G. Identification of the breast cancer susceptibility gene BRCA2. Nature. 1995 Dec 21;378(6559):789–792. doi: 10.1038/378789a0. [DOI] [PubMed] [Google Scholar]

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