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Why Is Cancer Genetic Counseling Underutilized by Women Identified as at Risk for Hereditary Breast Cancer? Patient Perceptions of Barriers Following a Referral Letter

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Journal of Genetic Counseling

Abstract

Family history information comprises an important tool in identifying and referring patients at risk for hereditary breast and ovarian cancer (HBOC) to cancer genetic counseling. Despite recommendations and support provided by numerous professional organizations, cancer genetic counseling services are underutilized by atrisk patients. This study aimed to: (1) determine the rate of genetic counseling utilization following a referral letter, (2) characterize factors (barriers and supports) which influenced uptake of services, and (3) identify potential strategies for increasing utilization. This study evaluated the uptake of cancer genetic counseling among 603 screening mammography patients identified as having an increased risk for HBOC based on National Comprehensive Cancer Network (NCCN) guidelines. At risk individuals and their primary care providers were mailed a referral letter recommending genetic counseling. Three focus groups (N = 24) were conducted to identify responses to receiving a letter recommending genetic counseling, barriers to seeking genetic counseling, and facilitating factors to utilizing these services. Participant responses were qualitatively analyzed using thematic and cross case analysis. Within one year, 50/603 (8 %) of the identified at-risk women completed a genetic counseling appointment. Participant-perceived barriers which influenced their decision not to seek genetic counseling included lack of relevance and utility, limited knowledge about genetic counseling, concerns about the genetic counseling process, and concerns about cost and insurance coverage. Participant-perceived facilitating factors which would support a decision to seek genetic counseling included greater awareness and education about genetic counseling services when receiving a referral, and improved follow up and guidance from their provider. Findings from this study support the need for patient and primary care provider education, and improved provider-patient communication to increase uptake of genetic counseling services.

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References

  • Acheson, L. S., Wiesner, G. L., Zyzanski, S. J., Goodwin, M. A., & Stange, K. C. (2000). Family history-taking in community family practice: implications for genetic screening. Genetics in Medicine, 2(3), 180–185. doi:10.1097/00125817-200005000-00004.

    Article  CAS  PubMed  Google Scholar 

  • ACOG Practice Bulletin No. 103: Hereditary breast and ovarian cancer syndrome (2009). Obstetrics and Gynecology, 113(4), 957–966. doi:10.1097/AOG.0b013e3181a106d4.

    Article  Google Scholar 

  • Anderson, B., McLosky, J., Wasilevich, E., Lyon-Callo, S., Duquette, D., & Copeland, G. (2012). Barriers and facilitators for utilization of genetic counseling and risk assessment services in young female breast cancer survivors. Journal of Cancer Epidemiology, 2012, 1–11. doi:10.1155/2012/298745.

    Article  Google Scholar 

  • Ayme, A., Viassolo, V., Rapiti, E., Fioretta, G., Schubert, H., Bouchardy, C., & Benhamou, S. (2014). Determinants of genetic counseling uptake and its impact on breast cancer outcome: a population-based study. Breast Cancer Research and Treatment, 144(2), 379–389. doi:10.1007/s10549-014-2864-3.

    Article  CAS  PubMed  Google Scholar 

  • Bellcross, C. A., Kolor, K., Goddard, K. A. B., Coates, R. J., Reyes, M., & Khoury, M. J. (2011). Awareness and utilization of BRCA1/2 testing among U.S. primary care physicians. American Journal of Preventive Medicine, 40(1), 61–66. doi:10.1016/j.amepre.2010.09.027.

    Article  PubMed  Google Scholar 

  • Bellcross, C. A., Leadbetter, S., Alford, S. H., & Peipins, L. A. (2013). Prevalence and healthcare actions of women in a large health system with a family history meeting the 2005 USPSTF recommendation for BRCA genetic counseling referral. Cancer Epidemiology Biomarkers and Prevention, 22(4), 728–735. doi:10.1158/1055-9965.EPI-12-1280.

    Article  Google Scholar 

  • Berliner, J., Fay, A., Cummings, S., Burnett, B., & Tillmanns, T. (2013). NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer. Journal of Genetic Counseling, 22, 155–163. doi:10.1007/s10897-012-9547-1.

    Article  PubMed  Google Scholar 

  • Bottorff, J. L., Ratner, P. A., Balneaves, L. G., Richardson, C. G., McCullum, M., Hack, T., et al. (2002). Women’s interest in genetic testing for breast cancer risk: the influence of Sociodemographics and knowledge. Cancer Epidemiology Biomarkers & Prevention, 11(1), 89–95 Retrieved from http://cebp.aacrjournals.org/cgi/content/abstract/11/1/89.

    Google Scholar 

  • Brain, K., Gray, J., Norman, P., Parsons, E., Clarke, A., Rogers, C., & Harper, P. (2000). Why do women attend familial breast cancer clinics? Journal of Medical Genetics, 37(3), 197–202. doi:10.1136/jmg.37.3.197.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Brandt, R., Ali, Z., Sabel, A., McHugh, T., & Gilman, P. (2008). Cancer genetics evaluation: barriers to and improvements for referral. Genetic Testing, 12(1), 9–12.

    Article  PubMed  Google Scholar 

  • Burke, W., Culver, J., Pinsky, L., Hall, S., Reynolds, S. E., Yasui, Y., & Press, N. (2009). Genetic assessment of breast cancer risk in primary care practice. American Journal of Medical Genetics Part A, 149A(3), 349–356. doi:10.1002/ajmg.a.32643.

    Article  PubMed  PubMed Central  Google Scholar 

  • Cappelli, M., Surh, L., Humphreys, L., Verma, S., Logan, D., Hunter, A., & Allanson, J. (1999). Psychological and social determinants of women’s decisions to undergo genetic counseling and testing for breast cancer. Clinical Genetics, 55(1), 419–430. doi:10.1034/j.1399-0004.1999.550605.x.

    Article  CAS  PubMed  Google Scholar 

  • Chin, T. M., Tan, S. H., Lim, S. E., Iau, P., Yong, W. P., Wong, S. W., & Lee, S. C. (2005). Acceptance, motivators, and barriers in attending breast cancer genetic counseling in Asians. Cancer Detection and Prevention, 29(5), 412–418. doi:10.1016/j.cdp.2005.06.009.

    Article  PubMed  Google Scholar 

  • Culver, J., Burke, W., Yasui, Y., Durfy, S., & Press, N. (2001). Participation in breast cancer genetic counseling: the influence of educational level, ethnic background, and risk perception. Journal of Genetic Counseling, 10(3), 215–231.

    Article  Google Scholar 

  • Ford, M. E., Alford, S. H., Britton, D., Mcclary, B., & Gordon, H. S. (2007). Factors influencing perceptions of breast cancer genetic counseling among women in an urban health care system. Journal of Genetic Counseling, 16, 735–753. doi:10.1007/s10897-007-9106-3.

    Article  PubMed  Google Scholar 

  • Foster, C., Evans, D. G. R., Eeles, R., Eccles, D., Ashley, S., Brooks, L., & Watson, M. (2004). Non-uptake of predictive genetic testing for BRCA1/2 among relatives of known carriers: attributes, cancer worry, and barriers to testing in a multicenter clinical cohort. Genetic Testing, 8(1), 23–29. doi:10.1089/109065704323016003.

    Article  CAS  PubMed  Google Scholar 

  • Fraser, L., Bramald, S., Chapman, C., Chu, C., Cornelius, V., Douglas, F., & Hodgson, S. (2003). What motivates interest in attending a familial cancer genetics clinic? Familial Cancer, 2(3), 159–168. doi:10.1023/B.

    CAS  PubMed  Google Scholar 

  • Geer, K. P., Ropka, M. E., Cohn, W. F., Jones, S. M., & Miesfeldt, S. (2001). Factors influencing patients’ decisions to decline cancer genetic counseling services. Journal of Genetic Counseling, 10(1), 25–40. doi:10.1023/A:1009451213035.

    Article  CAS  PubMed  Google Scholar 

  • Grover, S., Stoffel, E. M., Bussone, L., Tschoegl, E., & Syngal, S. (2004). Physician assessment of family cancer history and referral for genetic evaluation in colorectal cancer patients. Clinical Gastroenterology and Hepatology, 2(9), 813–819. doi:10.1016/S1542-3565(04)00352-0.

    Article  PubMed  Google Scholar 

  • Grubs, R. E., & Piantanida, M. (2010). Grounded theory in genetic counseling research: an interpretive perspective. Journal of Genetic Counseling, 19(2), 99–111.

  • Haga, S., Burke, W., & Agans, R. (2013). Primary-care physicians’ access to genetic specialists: an impediment to the routine use of genomic medicine? Genetics in Medicine, 15(7), 513–514. doi:10.1038/gim.2012.168.Primary.

    Article  PubMed  PubMed Central  Google Scholar 

  • Hallowell, N., Murton, F., Statham, H., Green, J. M., & Richards, M. P. M. (1997). Women’s need for information before attending genetic Counselling for familial breast or ovarian cancer: a questionnaire, interview, and observational study. British Medical Journal, 314(7076), 281–283.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Hampel, H., Bennett, R. L., Buchanan, A., Pearlman, R., & Wiesner, G. L. (2014). A practice guideline from the American College of Medical Genetics and Genomics and the National Society of genetic counselors: referral indications for cancer predisposition assessment. Genetics in Medicine, 17, 70–87. doi:10.1038/gim.2014.147.

    Article  PubMed  Google Scholar 

  • Howlader, N., Noone, A., Krapcho, M., Garshell, J., Miller, D., Altekruse, S., & Cronin, K. (2014). SEER cancer statistics review, 1975–2012. MD: Bethesda Retrieved from http://seer.cancer.gov/csr/1975_2012/.

    Google Scholar 

  • Hsieh, H.-F., & Shannon, S. E. (2005). Three pproaches to qualitative content analysis. Qualitative Health Research, 15(9), 1277–1288. doi:10.1177/1049732305276687.

    Article  PubMed  Google Scholar 

  • Kieran, S., Loescher, L. J., & Lim, K. H. (2007). The role of financial factors in acceptance of clinical BRCA genetic testing. Genetic Testing, 11(1), 101–110. doi:10.1089/gte.2006.9999.

    Article  PubMed  Google Scholar 

  • Levy, D. E., Garber, J. E., & Shields, A. E. (2009). Guidelines for genetic risk assessment of hereditary breast and ovarian cancer: early disagreements and low utilization. Journal of General Internal Medicine, 24(7), 822–828. doi:10.1007/s11606-009-1009-6.

    Article  PubMed  PubMed Central  Google Scholar 

  • MacFarlane, I. M., Veach, P. M., & LeRoy, B. (2014). Genetic counseling research: a practical guide. UK: Oxford University Press.

  • Mikat-Stevens, N. A., Larson, I. A., & Tarini, B. A. (2015). Primary-care providers' perceived barriers to integration of genetics services: a systematic review of the literature. Genetics in Medicine, 17(3), 169–176. doi:10.1038/gim.2014.101.

  • Morgan, D., Sylvester, H., Lucas, F. L., & Miesfeldt, S. (2009). Cancer prevention and screening practices among women at risk for hereditary breast and ovarian cancer after genetic counseling in the community setting. Familial Cancer, 8(4), 277–287. doi:10.1007/s10689-009-9242-z.

    Article  CAS  PubMed  Google Scholar 

  • Mouchawar, J., Hensley-Alford, S., Laurion, S., Ellis, J., Kulchak-Rahm, A., Finucane, M. L., & Ritzwoller, D. (2005). Impact of direct-to-consumer advertising for hereditary breast cancer testing on genetic services at a managed care organization: a naturally-occurring experiment. Genetics in Medicine, 7(3), 191–197. doi:10.1097/01.GIM.0000156526.16967.7 A.

    Article  PubMed  Google Scholar 

  • Moyer, V. A. (2014). Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. preventive services task force recommendation statement. Annals of Internal Medicine, 160(4), 271–282.

    Article  PubMed  Google Scholar 

  • National Comprehensive Cancer Network (NCCN) Guidelines Inc. (2015). Genetic/Familial High-Risk Assessment : Breast and Ovarian Version, 2.2015 .Retrieved from http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf

  • O’Neill, S., Peters, J., Vogel, V., Feingold, E., & Rubinstein, W. (2006). Referral to cancer genetic counseling: are there stages of readiness? American Journal of Medical Genetics Part C (Seminars in Medical Genetics), 142C, 221–231. doi:10.1002/ajmg.c.

    Article  Google Scholar 

  • Patton, M. Q. (2002). Qualitative research and evaluation methods (3rd ed.). Thousand Oaks, CA: Sage Publications, Inc..

    Google Scholar 

  • Quillin, J. M., Krist, A. H., Gyure, M., Corona, R., Rodriguez, V., Borzelleca, J., & Bodurtha, J. N. (2014). Patient-reported hereditary breast and ovarian cancer in a primary care practice. Journal of Community Genetics, 5(2), 179–183. doi:10.1007/s12687-013-0161-1.

    Article  PubMed  Google Scholar 

  • Rahm, A. K., Sukhanova, A., Ellis, J., & Mouchawar, J. (2007). Increasing utilization of cancer genetic counseling services using a patient navigator model. Journal of Genetic Counseling, 16(2), 171–177. doi:10.1007/s10897-006-9051-6.

    Article  PubMed  Google Scholar 

  • Resta, R., Biesecker, B.B., Bennett, R.L. et al. (2006). A new definition of genetic counseling: national society of genetic counselors’ task force report. Journal of Genetic Counseling, 15(2), 77–83. doi:10.1007/s10897-005-9014-3.

  • Riley, B. D., Culver, J. O., Skrzynia, C., Senter, L. a., Peters, J. a., Costalas, J. W., & Trepanier, A. M. (2012). Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of genetic counselors. Journal of Genetic Counseling, 21, 151–161. doi:10.1007/s10897-011-9462-x.

    Article  PubMed  Google Scholar 

  • Robson, M. E., Bradbury, A. R., Arun, B., Domchek, S. M., Ford, J. M., Hampel, H. L., & Lindor, N. M. (2015). American Society of Clinical Oncology policy statement. Update: Genetic and Genomic Testing for Cancer Susceptibility. doi:10.1200/JCO.2015.63.0996.

    Google Scholar 

  • Rolnick, S. J., Rahm, A. K., Jackson, J. M., Nekhlyudov, L., Goddard, K. a. B., Field, T., et al. (2011). Barriers in identification and referral to genetic counseling for familial cancer risk: the perspective of genetic service providers. Journal of Genetic Counseling, 20(3), 314–322. doi:10.1007/s10897-011-9351-3.

    Article  PubMed  Google Scholar 

  • Sabatino, S. A., McCarthy, E. P., Phillips, R. S., & Burns, R. B. (2007). Breast cancer risk assessment and management in primary care: provider attitudes, practices, and barriers. Cancer Detection and Prevention, 31, 375–383. doi:10.1016/j.cdp.2007.08.003.

    Article  PubMed  Google Scholar 

  • Scheuner, M. T., Hamilton, A. B., Peredo, J., Sale, T. J., Austin, C., Gilman, S. C., et al. (2014). A cancer genetics toolkit improves access to genetic services through documentation and use of the family history by primary-care clinicians. Genetics in Medicine, 16(1), 60–69. doi:10.1038/gim.2013.75.

    Article  PubMed  Google Scholar 

  • Schlich-Bakker, K. J., ten Kroode, H. F. J., Wárlám-Rodenhuis, C. C., van den Bout, J., & Ausems, M. G. E. M. (2007). Barriers to participating in genetic counseling and BRCA testing during primary treatment for breast cancer. Genetics in Medicine, 9(11), 766–777. doi:10.1097/GIM.0b013e318159a318.

    Article  PubMed  Google Scholar 

  • Schneider, K. (2012). Counseling about cancer (3rd ed.). Hoboken: John Wiley & Sons, Inc..

    Google Scholar 

  • Siegel, R. L., Miller, K. D., & Jemal, A. (2016). Cancer statistics, 2016. CA: a Cancer Journal for Clinicians, 66, 7–30. doi:10.3322/caac.21332.

    Google Scholar 

  • Suther, S., & Goodson, P. (2003). Barriers to the provision of genetic services by primary care physicians: a systematic review of the literature. Genetics in Medicine, 5(2), 70–76. doi:10.1097/01.GIM.0000055201.16487.61.

    Article  PubMed  Google Scholar 

  • Sweet, K. M., Bradley, T. L., & Westman, J. A. (2002). Identification and referral of families at high risk for cancer susceptibility. Journal of Clinical Oncology, 20(2), 528–537. doi:10.1200/JCO.20.2.528.

    Article  PubMed  Google Scholar 

  • Trivers, K. F., Baldwin, L. M., Miller, J. W., Matthews, B., Andrilla, C. H. A, Lishner, D. M., & Goff, B. A. (2011). Reported referral for genetic counseling or BRCA 1/2 testing among United States physicians: A vignette-based study. Cancer, 117(23), 5334–5343. doi:10.1002/cncr.26166.

  • Vadaparampil, S. T., Quinn, G. P., Miree, C. a., Brzosowicz, J., Carter, B., & Laronga, C. (2009). Recall of and reactions to a surgeon referral letter for BRCA genetic counseling among high-risk breast cancer patients. Annals of Surgical Oncology, 16, 1973–1981. doi:10.1245/s10434-009-0479-4.

    Article  PubMed  Google Scholar 

  • Van Asperen, C. J., Van Dijk, S., Zoeteweij, M. W., Timmermans, D. R. M., De Bock, G. H., Meijers-Heijboer, E. J., et al. (2002). What do women really want to know? Motives for attending familial breast cancer clinics. Journal of Medical Genetics, 39(6), 410–414. doi:10.1136/jmg.39.6.410.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Wakefield, C. E., Ratnayake, P., Meiser, B., Suthers, G., Price, M. a., Duffy, J., & Tucker, K. (2011). “for all my family’s sake, I should go and find out”: an Australian report on genetic counseling and testing uptake in individuals at high risk of breast and/or ovarian cancer. Genetic Testing and Molecular Biomarkers, 15(6), 379–385. doi:10.1089/gtmb.2010.0158.

    Article  PubMed  Google Scholar 

  • Wood, M. E., Flynn, B. S., & Stockdale, a. (2013). Primary care physician management, referral, and relations with specialists concerning patients at risk for cancer due to family history. Public Health Genomics, 16(3), 75–82. doi:10.1159/000343790.

    Article  CAS  PubMed  Google Scholar 

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Acknowledgments

This research was funded by the Engelsma Family Foundation, Minneapolis, MN. We thank Jessica Jeruzal for technical and administrative support. We would also like to thank the focus group participants for their participation in this study, and as well as Sarah Conder for moderating our focus groups.

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Authors and Affiliations

  1. University of Minnesota-Fairview, Minneapolis, MN, USA

    Alyssa Kne

  2. Department of Genetics, Cell Biology and Development, University of Minnesota, Minneapolis, MN, USA

    Heather Zierhut & Patricia McCarthy Veach

  3. Allina Health, Virginia Piper Cancer Institute, 800 East 28th Street, Suite 602, Minneapolis, MN, 55407, USA

    Shari Baldinger, Karen K. Swenson & Michaela L. Tsai

  4. Division of Applied Research, Allina Health, Minneapolis, MN, USA

    Pamela Mink

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  1. Alyssa Kne
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  2. Heather Zierhut
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  3. Shari Baldinger
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  4. Karen K. Swenson
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  5. Pamela Mink
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  6. Patricia McCarthy Veach
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Correspondence to Karen K. Swenson.

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Conflict of Interest

A. Kne, H. Zierhut, S. Baldinger, K. Swenson, P. Mink, P. McCarthy Veach, and M. Tsai declare they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.

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No animal studies were carried out by the authors for this article.

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Kne, A., Zierhut, H., Baldinger, S. et al. Why Is Cancer Genetic Counseling Underutilized by Women Identified as at Risk for Hereditary Breast Cancer? Patient Perceptions of Barriers Following a Referral Letter. J Genet Counsel 26, 697–715 (2017). https://doi.org/10.1007/s10897-016-0040-0

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