Skip to main content
SpringerLink
Log in

Family Communication of BRCA1/2 Results and Family Uptake of BRCA1/2 Testing in a Diverse Population of BRCA1/2 Carriers

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

Previous studies examining communication of BRCA1/2 results with relatives and family uptake of BRCA1/2 testing have sampled from predominantly white, high SES cohorts ascertained solely from tertiary care centers. No studies have focused on family communication and testing among relatives of diverse BRCA1/2 carriers. We conducted structured interviews with 73 BRCA1/2 carriers identified at a public hospital and a tertiary cancer center. We asked participants if each first- and second-degree relative was aware of their BRCA1/2 results and whether or not each relative had tested. Generalized estimating equations identified rates and predictors of family communication and testing. Participants disclosed their test results to 73 % of 606 eligible relatives and 31 % of 514 eligible relatives tested. Communication and testing rates were similar for relatives of participants from the public hospital and the tertiary cancer center. Hospital site was not a significant predictor of either result disclosure or relative uptake of testing. African American and Asian/Pacific Islander participants were significantly less likely to disclose their results to their relatives; relatives of African American participants were significantly less likely to test. Addressing these disparities will require further research into the best ways to facilitate family communication and counsel at-risk relatives of racially and socioeconomically diverse BRCA1/2 mutation carriers.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

Similar content being viewed by others

References

  • Armstrong, K., Weber, B., Stopfer, J., Calzone, K., Putt, M., Coyne, J., & Schwartz, S. (2003). Early use of clinical BRCA1/2 testing: associations with race and breast cancer risk. American Journal of Medical Genetics, 117A, 154–160.

    PubMed  Google Scholar 

  • Armstrong, K., Micco, E., Carney, A., Stopfer, J., & Putt, M. (2005). Racial differences in the use of BRCA1/2 testing among women with a family history of breast or ovarian cancer. Journal of the American Medical Association, 293(14), 1729–1736.

    Article  PubMed  CAS  Google Scholar 

  • Barlow-Stewart, K., Yeo, S. S., Meiser, B., et al. (2006). Toward cultural competence in cancer genetic counseling and genetics education: lessons learned from Chinese-Australians. Genetics in Medicine, 8(1), 24–31.

    Article  PubMed  Google Scholar 

  • Berliner, J. L., & Fay, A. M. (2007). Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling, 16(3), 241–260.

    Article  PubMed  Google Scholar 

  • Biesecker, B. B., Ishibe, N., Hadley, D. W., Giambarresi, T. R., Kase, R. G., Lerman, C., et al. (2000). Psychosocial factors predicting BRCA1/BRCA2 testing decisions in members of hereditary breast and ovarian cancer families. American Journal of Medical Genetics, 93(4), 257–263.

    Article  PubMed  CAS  Google Scholar 

  • Blandy, C., Chabal, F., Stoppa-Lyonnet, D., & Julian-Reynier, C. (2003). Testing participation in BRCA1/2 positive families: initiator role of index cases. Genetic Testing, 7(3), 225–233.

    Article  PubMed  Google Scholar 

  • Burke, W., Daly, M., Garber, J., Botkin, J., Kahn, M. J., Lynch, P., et al. (1997). Recommendations for follow-up care of individuals with an inherited predisposition to cancer. Journal of the American Medical Association, 277(12), 997–1003.

    Article  PubMed  CAS  Google Scholar 

  • Cheung, E. L., Olson, A. D., Yu, T. M., Han, P. Z., & Beattie, M. S. (2010). Communication of BRCA1/2 results and family testing in 1,103 high-risk women. Cancer Epidemiology, Biomarkers & Prevention, 19(9), 2211–2219.

    Article  CAS  Google Scholar 

  • Claes, E., Evers-Kiebooms, G., Boogaerts, A., Decruyenaere, M., Denayer, L., & Legius, E. (2003). Communication with close and distant relatives in the context of genetic testing for hereditary breast and ovarian cancer in cancer patients. American Journal of Medical Genetics, 116A, 11–19.

    Article  PubMed  Google Scholar 

  • De Leon Matsuda, M. L., Liede, A., Kwan, E., Mapua, C. A., Cutiongco, E. M., Tan, A., Borg, A., & Narod, S. A. (2002). BRCA1 and BRCA2 mutations among breast cancer patients from the Philippines. International Journal of Cancer, 98(4), 596–603.

    Article  Google Scholar 

  • Domchek, S. M., Friebel, T. M., Singer, C. F., Evans, D. G., Lynch, H. T., & Isaacs, C. (2010). Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. Journal of the American Medical Association, 304(9), 967–975.

    Article  PubMed  CAS  Google Scholar 

  • Finlay, E., Stopfer, J. E., Burlingame, E., Evans, K. G., Nathanson, K. L., Weber, B. L., et al. (2008). Factors determining dissemination of results and uptake of genetic testing in families with known BRCA1/2 mutations. Genetic Testing, 12(1), 81–92.

    Article  PubMed  Google Scholar 

  • Haffty, B. G., Choi, D. H., Goyal, S., Silber, A., Ranieri, K., Matloff, E., et al. (2009). Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups. Annals of Oncology, 20(10), 1653–1659.

    Article  PubMed  CAS  Google Scholar 

  • Harris, P. A., Taylor, R., Thielke, R., Payne, J., Gonzalez, N., & Conde, J. G. (2009). Research electronic data capture (REDCap) — a metadata-driven methodology and workflow process for providing translational research informatics support. Journal of Biomedical Informatics, 42(2), 377–381.

    Article  PubMed  Google Scholar 

  • Harvey, S. L., Milne, R. L., McLachlan, S. A., Friedlander, M. L., Birch, K. E., & Weideman, P. (2011). Prospective study of breast cancer risk for mutation negative women from BRCA1 or BRCA2 mutation positive families. Breast Cancer Research and Treatment, 130(3), 1057–1061.

    Article  PubMed  CAS  Google Scholar 

  • Hughes, C., Lerman, C., Schwartz, M., Peshkin, B. N., Wenzel, L., Narod, S., et al. (2000). All in the family: evaluation of the process and content of sisters’ communication about BRCA1 and BRCA2 genetic test results. American Journal of Medical Genetics, 107(2), 143–150.

    Article  Google Scholar 

  • Hughes, C., Fasaye, G. A., LaSalle, V. H., & Finch, C. (2003). Sociocultural influences on participation in genetic risk assessment and testing among African American women. Patient Education and Counseling, 51(2), 107–114.

    Article  PubMed  Google Scholar 

  • Kardashian, A., Fehniger, J., Creasman, J., Cheung, E., & Beattie, M. S. (2012). Pilot study of the Sharing Risk Information Tool (ShaRIT) for families with hereditary breast and ovarian cancer syndrome. Hereditary Cancer in Clinical Practice, 10, 4.

    Article  PubMed  CAS  Google Scholar 

  • Kauff, N. D., Mitra, N., Robson, M. E., Hurley, K. E., Chuai, S., Goldfrank, D., et al. (2005). Risk of ovarian cancer in BRCA1 and BRCA2 mutation-negative hereditary breast cancer families. Journal of the National Cancer Institute, 97(18), 1382–1384.

    Article  PubMed  CAS  Google Scholar 

  • Kurian, A. W., Gong, G. D., Chun, N. M., Mills, M. A., Staton, A. D., Kingham, K. E., et al. (2008). Performance of BRCA1/2 mutation prediction models in Asian Americans. Journal of Clinical Oncology, 26(29), 4752–4758.

    Article  PubMed  CAS  Google Scholar 

  • Kurian, A. W., Gong, G. D., John, E. M., Johnston, D. A., Felberg, A., West, D. W., et al. (2011). Breast cancer risk for noncarriers of family-specific BRCA1 and BRCA2 mutations: findings from the breast cancer family registry. Journal of Clinical Oncology, 29(34), 4505–4509.

    Article  PubMed  CAS  Google Scholar 

  • Landsbergen, K., Verhaak, C., Kraaimaat, F., & Hoogerbrugge, N. (2005). Genetic uptake in BRCA-mutation families is related to emotional and behavioral communication characteristics of index patients. Familial Cancer, 4(2), 115–119.

    Article  PubMed  Google Scholar 

  • Lee, R., Beattie, M., Crawford, B., Mak, J., Stewart, N., Komaromy, M., et al. (2005). Recruitment, genetic counseling, and BRCA1/2 testing for underserved women at a public hospital. Genetic Testing, 9(4), 306–312.

    Article  PubMed  Google Scholar 

  • Lerman, C., Hughes, C., Benkendorf, J. L., Biesecker, B., Kerner, J., Willison, J., et al. (1999). Racial differences in testing motivation and psychological distress following pretest education for BRCA1 gene testing. Cancer Epidemiology, Biomarkers & Prevention, 8(4 Pt 2), 361–367.

    CAS  Google Scholar 

  • Lu, K., Kauff, N., Powell, C. B., Chen, L. M., Cass, I., Lancaster, J., et al. (2009). American college of obstetricians and gynecologists practice bulletin No. 103: hereditary breast and ovarian cancer syndrome. Obstetrics and Gynecology, 113(4), 957–966.

    Google Scholar 

  • MacDonald, D. J., Sarna, L., van Servellen, G., Bastani, R., Giger, J. N., & Weitzel, J. N. (2007). Selection of family members for communication of cancer risk and barriers to this communication before and after genetic cancer risk assessment. Genetics in Medicine, 9(5), 275–282.

    Article  PubMed  Google Scholar 

  • McGivern, B., Everett, J., Yager, G. G., Baumiller, R. C., Hafertepen, A., & Saal, H. M. (2004). Family communication about positive BRCA1 and BRCA2 genetic test results. Genetics in Medicine, 6(6), 503–509.

    Article  PubMed  CAS  Google Scholar 

  • Narod, S. (2009). Screening for BRCA1/2 and BRCA2 mutations in breast cancer patients from Mexico: the public health perspective. Salud Pública de México, 51(Suppl 2), S191–S196.

    Article  PubMed  Google Scholar 

  • Nathanson, K. L., & Domchek, S. M. (2011). Therapeutic approaches for women predisposed to breast cancer. Annual Review of Medicine, 62, 295–306.

    Article  PubMed  CAS  Google Scholar 

  • National Comprehensive Cancer Network (2011) Genetic/familial high-risk assessment: breast and ovarian, version 1. Practice guidelines. Available at: http://www.nccn.org. Accessed 23 April 2012.

  • Offit, K., Groeger, T., Turner, S., Wadsworth, E. A., & Weiser, M. A. (2004). The “duty to warn” a patient’s family members about hereditary disease risks. Journal of the American Medical Association, 292(12), 1469–1473.

    Article  PubMed  CAS  Google Scholar 

  • Patenaude, A. F., Dorval, M., DiGianni, L. S., Schneider, K. A., Chittenden, A., & Garber, J. E. (2006). Sharing BRCA1/2 test results with first-degree relatives: factors predicting who women tell. Journal of Clinical Oncology, 24(4), 700–706.

    Article  PubMed  Google Scholar 

  • Plon, S. E., Cooper, H. P., Parks, B., Dar, S., Kelly, P. A., Weinberg, A. D., et al. (2011). Genetic testing and cancer risk management recommendations by physicians for at-risk relatives. Genetics in Medicine, 13(2), 148–154.

    Article  PubMed  Google Scholar 

  • Ratnayake, P., Wakefield, C. E., Meiser, B., Suthers, G., Price, M. A., Duffy, J., et al. (2011). An exploration of the communication preferences regarding genetic testing in individuals from families with identified breast/ovarian cancer mutations. Familial Cancer, 10(1), 97–105.

    Article  PubMed  Google Scholar 

  • Rebbeck, T. R., Kauff, N. D., & Domchek, S. M. (2009). Meta-analysis of risk-reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. Journal of the National Cancer Institute, 101(2), 80–87.

    Article  PubMed  CAS  Google Scholar 

  • Robson, M. E., Storm, C. D., Weitzel, J., Wollins, D. S., & Offit, K. (2010). American society of clinical oncology policy statement update: genetic and genomic testing for cancer susceptibility. Journal of Clinical Oncology, 28(5), 893–901.

    Article  PubMed  Google Scholar 

  • Sermijn, E., Goelen, G., Teugels, E., Kaufman, L., Vonduelle, M., Neyns, B., et al. (2004). The impact of proband mediated information dissemination in families with a BRCA1/2 gene mutation. Journal of Medical Genetics, 41(3), e23.

    Article  PubMed  CAS  Google Scholar 

  • Susswein, L. R., Skrzynia, C., Lange, L. A., Booker, J. K., Graham, M. L., & Evans, J. P. (2008). Increased uptake of BRCA1/2 genetic testing among African American women with a recent diagnosis of breast cancer. Journal of Clinical Oncology, 26(1), 32–36.

    Article  PubMed  Google Scholar 

  • Thompson, H. B., Jandorf, L., & Redd, W. (2003). Perceived disadvantages and concerns about abuses of genetic testing for cancer risk: differences across African American, Latina, and Caucasian women. Patient Education and Counseling, 51(3), 217–227.

    Article  PubMed  Google Scholar 

  • U.S. Preventive Services Task Force. (2005). Genetic risk assessment and BRCA1/2 mutation testing for breast and ovarian cancer susceptibility: recommendation statement. Annals of Internal Medicine, 143(5), 355–361.

    Article  Google Scholar 

  • Vos, J., Menko, F., Jansen, A. M., van Asperen, C. J., Stiggelbout, A. M., & Tibben, A. (2011). A whisper-game perspective on the family communication of DNA-test results: a retrospective study on the communication process of BRCA1/2-test results between proband and relatives. Familial Cancer, 10(1), 87–96.

    Article  PubMed  Google Scholar 

  • Wagner-Costalas, J., Itzen, M., Malick, J., Babb, J. S., Bove, B., Godwin, A. K., & Daly, M. B. (2003). Communication of BRCA1 and BRCA2 results to at-risk relatives: a cancer risk assessment program’s experience. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 119C, 11–18.

    Article  PubMed  Google Scholar 

  • Yoon, S. Y., Thong, M. K., Taib, N. A., Yip, C. H., & Teo, S. H. (2011). Genetic counseling for patients and families with hereditary breast and ovarian cancer in a developing Asian country: an observational descriptive study. Familial Cancer, 10(2), 199–205.

    Article  PubMed  Google Scholar 

Download references

Acknowledgments

The authors would like to thank the genetic counselors of the Cancer Risk Program at the Helen Diller Family Comprehensive Cancer Center for their input in the development of the Family Communication Questionnaire. We would also like to thank the Doris Duke Charitable Foundation for their support of clinical research fellow Julia Fehniger, as well as the Avon Foundation for its support of the Consortium of Underserved BRCA Testers (CUB).

Conflict of interest

The authors have no conflicts of interest to disclose. We have full control of all primary data and agree to allow the Journal of Genetic Counseling to review our data if requested.

Author information

Authors and Affiliations

  1. Cancer Risk Program, University of California, San Francisco, San Francisco, CA, USA

    Julia Fehniger & Mary S. Beattie

  2. University of Michigan Medical School, Ann Arbor, MI, USA

    Julia Fehniger

  3. Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, CA, USA

    Feng Lin & Mary S. Beattie

  4. Department of Anthropology, History, and Social Medicine, University of California, San Francisco, San Francisco, CA, USA

    Galen Joseph

  5. Department of Medicine, University of California, San Francisco, San Francisco, CA, USA

    Celia Kaplan

  6. University of California, San Francisco, 3333 California Street, Box 0856, San Francisco, CA, 94143, USA

    Celia Kaplan

Authors
  1. Julia Fehniger
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Feng Lin
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Mary S. Beattie
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Galen Joseph
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Celia Kaplan
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Celia Kaplan.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Fehniger, J., Lin, F., Beattie, M.S. et al. Family Communication of BRCA1/2 Results and Family Uptake of BRCA1/2 Testing in a Diverse Population of BRCA1/2 Carriers. J Genet Counsel 22, 603–612 (2013). https://doi.org/10.1007/s10897-013-9592-4

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10897-013-9592-4

Keywords

Search

Navigation