Abstract
Scientific advances have allowed the development of multiplex gene-panels to assess many genes simultaneously in women who have tested negative for BRCA1/2. We examined correlates of interest in testing for genes that confer modest and moderate breast cancer risk and risk communication preferences for women from BRCA negative families. Female first-degree relatives of breast cancer patients who tested negative for BRCA1/2 mutations (N = 149) completed a survey assessing multiplex genetic testing interest and risk communication preferences. Interest in testing was high (70 %) and even higher if results could guide risk-reducing behavior changes such as taking medications (79 %). Participants preferred to receive genomic risk communications from a variety of sources including: primary care physicians (83 %), genetic counselors (78 %), printed materials (71 %) and the web (60 %). Factors that were independently associated with testing interest were: perceived lifetime risk of developing cancer (odds ratio (OR) = 1.67: 95 % confidence interval (CI) 1.06–2.65) and high cancer worry (OR = 3.12: CI 1.28–7.60). Findings suggest that women from BRCA1/2 negative families are a unique population and may be primed for behavior change. Findings also provide guidance for clinicians who can help develop genomic risk communications, promote informed decision making and customize behavioral interventions.
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Anderson, A. E., Flores, K. G., Boonyasiriwat, W., Gammon, A., Kohlmann, W., Birmingham, W. C., & Kinney, A. Y. (2014). Interest and informational preferences regarding genomic testing for modest increases in colorectal cancer risk. Public Health Genomics, 17(1), 48–60.
Bottorff, J. L., Ratner, P. A., Balneaves, L. G., Richardson, C. G., McCullum, M., Hack, T., & Buxton, J. (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.
Bradbury, A. R., Patrick-Miller, L., & Domchek, S. (2015a). Multiplex genetic testing: reconsidering utility and informed consent in the era of next-generation sequencing. Genetics in Medicine, 17(2), 97–98.
Bradbury, A. R., Patrick-Miller, L. J., Egleston, B. L., DiGiovanni, L., Brower, J., Harris, D., & Domchek, S. M. (2015b). Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing. Genetics in Medicine, 18(1), 25–33.
Cameron, L. D., & Diefenbach, M. A. (2001). Responses to information about psychosocial consequences of genetic testing for breast cancer susceptibility: influences of cancer worry and risk perceptions. Journal of Health Psychology, 6(1), 47–59.
Cameron, L. D., & Muller, C. (2009). Psychosocial aspects of genetic testing. Current Opinion in Psychiatry, 22(2), 218–223.
Cameron, L. D., & Reeve, J. (2006). Risk perceptions, worry, and attitudes about genetic testing for breast cancer susceptibility. Psychology & Health, 21(2), 211–230.
Codori, A. M., Petersen, G. M., Miglioretti, D. L., Larkin, E. K., Bushey, M. T., Young, C., & Booker, S. V. (1999). Attitudes toward colon cancer gene testing: factors predicting test uptake. Cancer Epidemiology, Biomarkers & Prevention, 8(4 Pt 2), 345–351.
Cohn, J., Blazey, W., Tegay, D., Harper, B., Koehler, S., Laurent, B., Krishnamachari, B. (2015). Physician risk assessment knowledge regarding BRCA Genetics Testing. Journal of Cancer Education, 30(3), 573–579.
Collins, F. S., & Varmus, H. (2015). A new initiative on precision medicine. The New England Journal of Medicine, 372(9), 793–795.
Cragun, D., Bonner, D., Kim, J., Akbari, M. R., Narod, S. A., Gomez-Fuego, A., & Pal, T. (2015). Factors associated with genetic counseling and BRCA testing in a population-based sample of young black women with breast cancer. Breast Cancer Research and Treatment, 151(1), 169–176.
Croyle, R. T., & Lerman, C. (1993). Interest in genetic testing for colon cancer susceptibility: cognitive and emotional correlates. Preventive Medicine, 22(2), 284–292.
Daly, M. B., Pilarski, R., Axilbund, J. E., Berry, M., Buys, S. S., Crawford, B., & Darlow, S. (2016). Genetic/familial high-risk assessment: breast and ovarian, Version 2.2015. Journal of the National Comprehensive Cancer Network, 14(2), 153–162.
Desmond, A., Kurian, A. W., Gabree, M., Mills, M. A., Anderson, M. J., Kobayashi, Y., & Ellisen, L. W. (2015). Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment. JAMA Oncol, 1(7), 943–951.
Easton, D. F., Pharoah, P. D., Antoniou, A. C., Tischkowitz, M., Tavtigian, S. V., Nathanson, K. L., & Foulkes, W. D. (2015). Gene-panel sequencing and the prediction of breast-cancer risk. The New England Journal of Medicine, 372(23), 2243–2257.
Evans, D. G., Warwick, J., Astley, S. M., Stavrinos, P., Sahin, S., Ingham, S., & Howell, A. (2012). Assessing individual breast cancer risk within the U.K. National Health Service Breast Screening Program: a new paradigm for cancer prevention. Cancer Prevention Research (Philadelphia, Pa.), 5(7), 943–951.
Evans, D. G., Barwell, J., Eccles, D. M., Collins, A., Izatt, L., Jacobs, C., Murray, A. (2014). The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services. Breast Cancer Research, 16(5), 442.
Gibbons, A., & Groarke, A. (2015). Can risk and illness perceptions predict breast cancer worry in healthy women? J Health Psychol. doi:10.1177/1359105315570984.
Graves, K. D., Wenzel, L., Schwartz, M. D., Luta, G., Wileyto, P., Narod, S., & Halbert, C. H. (2010). Randomized controlled trial of a psychosocial telephone counseling intervention in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiology, Biomarkers & Prevention, 19(3), 648–654.
Graves, K. D., Peshkin, B. N., Luta, G., Tuong, W., & Schwartz, M. D. (2011). Interest in genetic testing for modest changes in breast cancer risk: implications for SNP testing. Public Health Genomics, 14(3), 178–189.
Henneman, L., Vermeulen, E., van El, C. G., Claassen, L., Timmermans, D. R., & Cornel, M. C. (2013). Public attitudes towards genetic testing revisited: comparing opinions between 2002 and 2010. European Journal of Human Genetics, 21(8), 793–799.
Himes, D. O., Clayton, M. F., Donaldson, G. W., Ellington, L., Buys, S. S., & Kinney, A. Y. (2016). Breast cancer risk perceptions among relatives of women with uninformative negative BRCA1/2 test results: the moderating effect of the amount of shared information. Journal of Genetic Counseling, 25(2), 258–269.
Hoberg-Vetti, H., Bjorvatn, C., Fiane, B. E., Aas, T., Woie, K., Espelid, H., & Hoogerbrugge, N. (2016). BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study. European Journal of Human Genetics, 24(6), 881–888.
IPAQ. (2015) International Physical Activity Questionnaire. WWW.ipaq.ki.se. Accessed March 3, 2015.
Jensen, J. D., Bernat, J. K., Davis, L. A., & Yale, R. (2010). Dispositional cancer worry: convergent, divergent, and predictive validity of existing scales. Journal of Psychosocial Oncology, 28(5), 470–489.
Kabat, G. C., Matthews, C. E., Kamensky, V., Hollenbeck, A. R., & Rohan, T. E. (2015). Adherence to cancer prevention guidelines and cancer incidence, cancer mortality, and total mortality: a prospective cohort study. The American Journal of Clinical Nutrition, 101(3), 558–569.
Kelly, K. M., Andrews, J. E., Case, D. O., Allard, S. L., & Johnson, J. D. (2007). Information seeking and intentions to have genetic testing for hereditary cancers in rural and Appalachian Kentuckians. The Journal of Rural Health, 23(2), 166–172.
Kinney, A. Y., Butler, K. M., Schwartz, M. D., Mandelblatt, J. S., Boucher, K. M., Pappas, L. M., & Campo, R. A. (2014). Expanding access to BRCA1/2 genetic counseling with telephone delivery: a cluster randomized trial. Journal of the National Cancer Institute, 106(12). doi:10.1093/jnci/dju328.
Kotsopoulos, J., Metcalfe, K., Alston, J., Nikitina, D., Ginsburg, O., Eisen, A., & Narod, S. A. (2014). Prospective study of high-risk, BRCA1/2-mutation negative women: the 'negative study. BMC Cancer, 14, 221.
Lebo, P. B., Quehenberger, F., Kamolz, L. P., & Lumenta, D. B. (2015). The Angelina effect revisited: exploring a media-related impact on public awareness. Cancer, 121(22), 3959–3964.
Lerman, C., Daly, M., Masny, A., & Balshem, A. (1994). Attitudes about genetic testing for breast-ovarian cancer susceptibility. Journal of Clinical Oncology, 12(4), 843–850.
Li, H., Feng, B., Miron, A., Chen, X., Beesley, J., Bimeh, E., & Goldgar, D. E. (2016). Breast cancer risk prediction using a polygenic risk score in the familial setting: a prospective study from the breast cancer family registry and kConFab. Genetics in Medicine. doi:10.1038/gim.2016.43.
Lincoln, S. E., Kobayashi, Y., Anderson, M. J., Yang, S., Desmond, A. J., Mills, M. A.,. Ellisen, L. W. (2015). A systematic comparison of traditional and Multigene panel testing for hereditary breast and ovarian cancer genes in more than 1000 patients. The Journal of Molecular Diagnostics, 17(5), 533–544.
Lipkus, I. M., Kuchibhatla, M., McBride, C. M., Bosworth, H. B., Pollak, K. I., Siegler, I. C., & Rimer, B. K. (2000). Relationships among breast cancer perceived absolute risk, comparative risk, and worries. Cancer Epidemiology, Biomarkers & Prevention, 9(9), 973–975.
Markossian, T. W., & Hines, R. B. (2012). Disparities in late stage diagnosis, treatment, and breast cancer-related death by race, age, and rural residence among women in Georgia. Women & Health, 52(4), 317–335.
Mavaddat, N., Pharoah, P. D., Michailidou, K., Tyrer, J., Brook, M. N., Bolla, M. K., & Garcia-Closas, M. (2015). Prediction of breast cancer risk based on profiling with common genetic variants. Journal of the National Cancer Institute, 107(5).
McBride, C. M., Birmingham, W. C., & Kinney, A. Y. (2015). Health psychology and translational genomic research: Bringing innovation to cancer-related behavioral interventions. The American Psychologist, 70(2), 91–104.
McCarthy, A. M., Bristol, M., Fredricks, T., Wilkins, L., Roelfsema, I., Liao, K., & Armstrong, K. (2013). Are physician recommendations for BRCA1/2 testing in patients with breast cancer appropriate? A population-based study. Cancer, 119(20), 3596–3603.
McCaul, K. D., & Goetz, P. W. Worry. (2015) A paper on the National Cancer Institute website http://cancercontrol.cancer.gov/Brp/constructs/worry/worry.pdf Accessed March 30, 2015.
McGuire, A. L., Diaz, C. M., Wang, T., & Hilsenbeck, S. G. (2009). Social networkers' attitudes toward direct-to-consumer personal genome testing. The American Journal of Bioethics, 9(6–7), 3–10.
Meisel, S. F., Carere, D. A., Wardle, J., Kalia, S. S., Moreno, T. A., Mountain, J. L., & Group, P. G. S (2015). Explaining, not just predicting, drives interest in personal genomics. Genome Medicine, 7(1), 74.
Milhabet, I., Duprez, C., Krzeminski, A., & Christophe, V. (2013). Cancer risk comparative perception and overscreening behaviours of non-carriers from BRCA1/2 families. European Journal of Cancer Care (Engl), 22(4), 540–548.
Moyer, V. A., & Force, U. S. P. S. T. (2013). Medications to decrease the risk for breast cancer in women: recommendations from the U.S. Preventive Services Task Force recommendation statement. Annals of Internal Medicine, 159(10), 698–708.
Nelson, H. D., Smith, M. E., Griffin, J. C., & Fu, R. (2013). Use of medications to reduce risk for primary breast cancer: a systematic review for the U.S. Preventive Services Task Force. Annals of Internal Medicine, 158(8), 604–614.
Nguyen-Pham, S., Leung, J., & McLaughlin, D. (2014). Disparities in breast cancer stage at diagnosis in urban and rural adult women: a systematic review and meta-analysis. Annals of Epidemiology, 24(3), 228–235.
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.
Petersen, K. E., Johnsen, N. F., Olsen, A., Albieri, V., Olsen, L. K., Dragsted, L. O., & Egeberg, R. (2015). The combined impact of adherence to five lifestyle factors on all-cause, cancer and cardiovascular mortality: a prospective cohort study among Danish men and women. The British Journal of Nutrition, 113(5), 849–858.
Powell, K. P., Cogswell, W. A., Christianson, C. A., Dave, G., Verma, A., Eubanks, S., & Henrich, V. C. (2012). Primary care physicians' awareness, experience and opinions of direct-to-consumer genetic testing. Journal of Genetic Counseling, 21(1), 113–126.
Powers, J., & Stopfer, J. E. (2014). Risk assessment, genetic counseling, and clinical care for hereditary breast cancer. Journal of Obstetric, Gynecologic, and Neonatal Nursing, 43(3), 361–373.
Ramirez, A. G., Chalela, P., Gallion, K. J., Munoz, E., Holden, A. E., Burhansstipanov, L., Suarez, L. (2015). Attitudes Toward Breast Cancer Genetic Testing in Five Special Population Groups J Health Dispar Res Pract, 8(4), 124–135.
Roberts, J. S., & Ostergren, J. (2013). Direct-to-Consumer Genetic Testing and Personal Genomics Services: A Review of Recent Empirical Studies. Curr Genet Med Rep, 1(3), 182–200.
Selkirk, C. G., Vogel, K. J., Newlin, A. C., Weissman, S. M., Weiss, S. M., Wang, C. H., & Hulick, P. J. (2014). Cancer genetic testing panels for inherited cancer susceptibility: the clinical experience of a large adult genetics practice. Familial Cancer, 13(4), 527–536.
Sussner, K. M., Edwards, T. A., Thompson, H. S., Jandorf, L., Kwate, N. O., Forman, A., & Valdimarsdottir, H. B. (2011). Ethnic, racial and cultural identity and perceived benefits and barriers related to genetic testing for breast cancer among at-risk women of African descent in New York City. Public Health Genomics, 14(6), 356–370.
Teng, I., & Spigelman, A. (2014). Attitudes and knowledge of medical practitioners to hereditary cancer clinics and cancer genetic testing. Familial Cancer, 13(2), 311–324.
Trivers, K. F., Baldwin, L. M., Miller, J. W., Matthews, B., Andrilla, C. H., 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.
US Department of Agriculture. (2015) Dietary Guidelines for Americans. http://www.health.gov/dietaryguidelines/. Retrieved July 6, 2015.
Vermeulen, E., Henneman, L., van El, C. G., & Cornel, M. C. (2014). Public attitudes towards preventive genomics and personal interest in genetic testing to prevent disease: a survey study. European Journal of Public Health, 24(5), 768–775.
Weinrich, S., Royal, C., Pettaway, C. A., Dunston, G., Faison-Smith, L., Priest, J. H., & Powell, I. (2002). Interest in genetic prostate cancer susceptibility testing among african American men. Cancer Nursing, 25(1), 28–34.
Wolfe Schneider, K., Anguiano, A., Axell, L., Barth, C., Crow, K., Gilstrap, M., & Freivogel, M. (2014). Collaboration of Colorado cancer genetic counselors to integrate next generation sequencing panels into clinical practice. Journal of Genetic Counseling, 23(4), 640–646.
Acknowledgments
We would like to thank the REACH Project participants and their relatives, who made this research possible. This work was supported by grants from the National Cancer Institute at the National Institutes of Health (1R01CA129142 to AYK and U01 CA152958) and the UNM Comprehensive Cancer Center P30 (P30CA118100). The project was also supported by the Shared Resources (P30 CA042014) at Huntsman Cancer Institute (Biostatistics and Research Design, Genetic Counseling, Research Informatics, and the Utah Population Database [UPDB]); the Utah Cancer Registry, which is funded by Contract No.HHSN261201000026C from the National Cancer Institute’s Surveillance, Epidemiology and End Results (SEER) Program with additional support from the Utah State Department of Health and the University of Utah; the National Center for Research Resources and the National Center for Advancing Translational Sciences, National Institutes of Health, through Grant 8UL1TR000105 (formerly UL1RR025764). This content is solely the responsibility of the authors and does not necessarily reflect the opinions or views of the funding and supporting agencies.
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Authors Kristina Flores, Laurie Steffen, Christopher McLouth, Belinda Vicuna, Amanda Gammon, Lucretia Vigil, Zoneddy Dayao, Melanie Royce, and Anita Kinney have no conflict of interest.
Wendy Kohlmann received compensation within the past three years for consultation to Myriad Genetics.
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All procedures followed were in accordance with the ethical standards of University of Utah on human experimentation and with the 1964 Helsinki declaration and it later amendments or comparable ethical standards. Informed consent was obtained from all participants included in the study.
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Flores, K.G., Steffen, L.E., McLouth, C.J. et al. Factors Associated with Interest in Gene-Panel Testing and Risk Communication Preferences in Women from BRCA1/2 Negative Families. J Genet Counsel 26, 480–490 (2017). https://doi.org/10.1007/s10897-016-0001-7
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DOI: https://doi.org/10.1007/s10897-016-0001-7