Abstract
Until recently, genetic testing for hereditary breast cancer has primarily focused on pathogenic variants in the BRCA1 and BRCA2 (BRCA) genes. However, advances in DNA sequencing technologies have made simultaneous testing for multiple genes possible. We examined correlates of interest in multigene panel testing and risk communication preferences in an ethnically diverse sample of women who tested negative for BRCA mutations previously but remain at high risk based on their family history (referred to as “BRCA-uninformative”) and their at-risk female family members. Two-hundred and thirteen women with a previous breast cancer diagnosis and a BRCA-uninformative test result and their first-degree relatives completed a survey on interest in multigene panel testing, communication preferences, and sociodemographic, psychological, and clinical factors. Stepwise logistic regression was used to identify factors associated with testing interest. Chi-square analyses were used to test differences in risk communication preferences. Interest in multigene panel testing was high (84%) and did not considerably differ by cancer status or ethnicity. In multivariable analysis, factors significantly associated with interest in genetic testing were having had a mammogram in the past 2 years (odds ratio (OR) = 4.04, 95% confidence interval (CI) 1.80–9.02) and high cancer worry (OR = 3.77, 95% CI 1.34–10.60). Overall, the most commonly preferred genetic communication modes were genetic counselors, oncologists, and print materials. However, non-Hispanic women were more likely than Hispanic women to prefer web-based risk communication (p < 0.001). Hispanic and non-Hispanic women from BRCA-uninformative families have a high level of interest in gene panel testing. Cancer-related emotions and communication preferences should be considered in developing targeted genetic risk communication strategies.
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References
Andersen MR, Smith R, Meischke H, Bowen D, Urban N (2003) Breast cancer worry and mammography use by women with and without a family history in a population-based sample. Cancer Epidemiol Biomark Prev 12(4):314–320
Armstrong J, Toscano M, Kotchko N, Friedman S, Schwartz MD, Virgo KS et al (2015) Utilization and outcomes of BRCA genetic testing and counseling in a national commercially insured population: the ABOUT Study. JAMA Oncology 1(9):1251–1260
Armstrong K, Weiner J, Weber B, Asch DA (2003) Early adoption of BRCA 1/2 testing: who and why. Genetics in Medicine 5(2):92–98. doi:10.1097/01.GIM.0000056829.76915.2A
Booth ML, Ainsworth BE, Pratt M, Ekelund U, Yngve A, Sallis JF, Oja P (2003) International physical activity questionnaire: 12-country reliability and validity. Med Sci Sports Exerc 195(9131/03):3508–1381
Bradbury AR, Patrick-Miller L, Domchek S (2015) Multiplex genetic testing: Reconsidering utility and informed consent in the era of next-generation sequencing. Genetics in Medicine 17(2):97–98. doi:10.1038/Gim.2014.85
Cameron LD, Reeve J (2006) Risk perceptions, worry, and attitudes about genetic testing for breast cancer susceptibility. Psychol Health 21(2):211–230
Cristancho S, Peters K, Garces M (2014) Health information preferences among Hispanic/Latino immigrants in the US rural midwest. Glob Health Promot 21(1):40–49
Domchek SM, Bradbury A, Garber JE, Offit K, Robson ME (2013) Multiplex genetic testing for cancer susceptibility: out on the high wire without a net? J Clin Oncol 31(10):1267–1270
Elrick, A, Ashida, S, Ivanovich, J, Lyons, S, Biesecker, B B, Goodman, M S, & Kaphingst, K A (2016) Psychosocial and clinical factors associated with family communication of cancer genetic test results among women diagnosed with breast cancer at a young age. Journal of Genetic Counseling: 1–9
Ersig AL, Williams JK, Hadley DW, Koehly LM (2009) Communication, encouragement, and cancer screening in families with and without pathogenic variants for hereditary nonpolyposis colorectal cancer: a pilot study. Genetics in Medicine 11(10):728–734
Flores, K G, Steffen, L E, McLouth, C J, Vicuña, B E, Gammon, A, Kohlmann, W, ... & Kinney, A Y (2016) Factors associated with interest in gene-panel testing and risk communication preferences in women from BRCA1/2 negative families. Journal of Genetic Counseling: 1–11
Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B et al (2002) Clinical characteristics of individuals with germline pathogenic variants in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol 20(6):1480–1490
Frey MK, Kim SH, Bassett RY, Martineau J, Dalton E, Chern JY, Blank SV (2015) Rescreening for genetic pathogenic variants using multi-gene panel testing in patients who previously underwent non-informative genetic screening. Gynecol Oncol 139(2):211–215. doi:10.1016/j.ygyno.2015.08.006
Gammon AD, Rothwell E, Simmons R, Lowery JT, Ballinger L, Hill DA et al (2011) Awareness and preferences regarding BRCA1/2 genetic counseling and testing among Latinas and non-Latina white women at increased risk for hereditary breast and ovarian cancer. J Genet Couns 20(6):625–638. doi:10.1007/s10897-011-9376-7
Graves K, Peshkin B, Luta G, Tuong W, Schwartz M (2011) Interest in genetic testing for modest changes in breast cancer risk: implications for SNP testing. Public Health Genomics 14(3):178–189
Graves KD, Wenzel L, Schwartz MD, Luta G, Wileyto P, Narod S et al (2010) Randomized controlled trial of a psychosocial telephone counseling intervention in BRCA1 and BRCA2 pathogenic variant carriers. Cancer Epidemiol Biomark Prev 19(3):648–654. doi:10.1158/1055-9965.EPI-09-0548
Gray SW, Hicks-Courant K, Cronin A, Rollins BJ, Weeks JC (2014) Physicians’ attitudes about multiplex tumor genomic testing. J Clin Oncol JCO 2003 2052:4298
Internal Physical Activity Questionnaire (2005) Guidelines for data processing and analysis of the international physical activity questionnaire. https://sites.google.com/site/theipaq/scoring-protocol
Hagger MS, Orbell S (2003) A meta-analytic review of the common-sense model of illness representations. Psychol Health 18(2):141–184. doi:10.1080/088704403100081321
Hall MJ, Reid JE, Burbidge LA, Pruss D, Deffenbaugh AM, Frye C et al (2009) BRCA1 and BRCA2 pathogenic variants in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. Cancer 115(10):2222–2233. doi:10.1002/cncr.24200
Hamilton JG, Shuk E, Arniella G, González CJ, Gold GS, Gany F et al (2015) Genetic testing awareness and attitudes among Latinos: exploring shared perceptions and gender-based differences. Public Health Genomics 19(1):34–46
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. J Genet Couns 25:258–269
Jagsi R, Griffith KA, Kurian AW, Morrow M, Hamilton AS, Graff JJ et al (2015) Concerns about cancer risk and experiences with genetic testing in a diverse population of patients with breast cancer. J Clin Oncol 33(14):1584. doi:10.1200/Jco.2014.58.5885
Jensen JD, Bernat JK, Davis LA, Yale R (2010) Dispositional cancer worry: convergent, divergent, and predictive validity of existing scales. J Psychosoc Oncol 28(5):470–489
Kinney AY, Butler KM, Schwartz MD, Mandelblatt JS, Boucher KM, Pappas LM et al (2014b) Expanding access to BRCA1/2 genetic counseling with telephone delivery: a cluster randomized trial. Journal of the Natlonal Cancer Institute 106(12)
Kinney AY, Boonyasiriwat W, Walters ST, Pappas LM, Stroup AM, Schwartz MD et al (2014a) Telehealth personalized cancer risk communication to motivate colonoscopy in relatives of patients with colorectal cancer: the family CARE randomized controlled trial. J Clin Oncol 32(7):654–662
Kinney AY, Gammon A, Coxworth J, Simonsen SE, Arce-Laretta M (2010) Exploring attitudes, beliefs, and communication preferences of Latino community members regarding BRCA1/2 pathogenic variant testing and preventive strategies. Genetics in Medicine 12(2):105–115. doi:10.1097/Gim.0b013e3181c9af2d
Kurian AW, Hare EE, Mills MA, Kingham KE, McPherson L, Whittemore AS et al (2014) Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. J Clin Oncol 32(19):2001–2009
Lerman C, Seay J, Balshem A, Audrain J (1995) Interest in genetic testing among first-degree relatives of breast cancer patients. Am J Med Genet 57(3):385–392
Leventhal H, Meyer D, Nerenz D (1980) The common sense representation of illness danger. Contributions to Medical Psychology 2:7–30
Levy DE, Byfield SD, Comstock CB, Garber JE, Syngal S, Crown WH, Shields AE (2011) Underutilization of BRCA1/2 testing to guide breast cancer treatment: Black and Hispanic women particularly at risk. Genetics in Medicine 13(4):349–355. doi:10.1097/Gim.0b013e3182091ba4
Lipkus IM, Rimer BK, Halabi S, Strigo TS (2000) Can tailored interventions increase mammography use among HMO women? Am J Prev Med 18(1):1–10. doi:10.1016/S0749-3797(99)00106-3
Lorence DP, Park H, Fox S (2006) Racial disparities in health information access: resilience of the digital divide. J Med Syst 30(4):241–249
Lynce F, Graves KD, Jandorf L, Ricker C, Castro E, Moreno L, Augusto B, Fejerman L, Vadaparampil ST (2016) Genomic disparities in breast cancer among Latinas. Cancer Control 23(4):359–372
Mai PL, Vadaparampil ST, Breen N, McNeel TS, Wideroff L, Graubard BI (2014) Awareness of cancer susceptibility genetic testing: the 2000, 2005, and 2010 National Health Interview Surveys. Am J Prev Med 46(5):440–448
McBride CM, Birmingham WC, Kinney AY (2015) Health psychology and translational genomic research: bringing innovation to cancer-related behavioral interventions. Am Psychol 70(2):91–104
Mester JL, Mercer M, Goldenberg A, Moore RA, Eng C, Sharp RR (2015) Communicating with biobank participants: preferences for receiving and providing updates to researchers. Cancer Epidemiol Biomark Prev 24(4):708–712
Moran, O, Nikitina, D, Royer, R, Poll, A, Metcalfe, K, Narod, S A, ... & Kotsopoulos, J (2016) Revisiting breast cancer patients who previously tested negative for BRCA mutations using a 12-gene panel. Breast Cancer Res Treat:1–8
New Mexico Population Demographics — Race/Ethnicity (2015) Mexico Department of Health, Indicator-Based Information System for Public Health. Retrieved from http://ibis.health.state.nm.us/
Norquist BM, Swisher EM (2015) More genes, more problems? Benefits and risks of multiplex genetic testing. Gynecol Oncol 139(2):209–210. doi:10.1016/j.ygyno.2015.10.013
Peña-Purcell N (2008) Hispanics' use of internet health information: an exploratory study**. J Med Lib Assoc 96(2):101
Peterson SK (2005) The role of the family in genetic testing: theoretical perspectives, current knowledge, and future directions. Health Educ Behav 32(5):627–639
Ricker C, Culver JO, Lowstuter K, Sturgeon D, Sturgeon JD, Chanock CR et al (2016) Increased yield of actionable pathogenic variants using multi-gene panels to assess hereditary cancer susceptibility in an ethnically diverse clinical cohort. Cancer Genetics 209(4):130–137
Ricker C, Lagos V, Feldman N, Hiyama S, Fuentes S, Kumar V et al (2006) If we build it… will they come? Establishing a cancer genetics services clinic for an underserved predominantly Latina cohort. J Genet Couns 15(6):505–514
Rizzo JM, Buck MJ (2012) Key principles and clinical applications of “next-generation” DNA sequencing. Cancer Prev Res 5(7):887–900
Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci 74(12):5463–5467
Schwartz MD, Peshkin BN, Hughes C, Main D, Isaacs C, Lerman C (2002) Impact of BRCA1/BRCA2 pathogenic variant testing on psychologic distress in a clinic-based sample. J Clin Oncol 20(2):514–520
Selsky C, Luta G, Noone AM, Huerta EE, Mandelblatt JS (2013) Internet access and online cancer information seeking among Latino immigrants from safety net clinics. J Health Commun 18(1):58–70. doi:10.1080/10810730.2012.688248
Slavin TP, Niell-Swiller M, Solomon I, Nehoray B, Rybak C, Blazer KR, Weitzel JN (2015) Clinical application of multigene panels: challenges of next-generation counseling and cancer risk management. Front Oncol 5
Solomon FM, Eberl-Lefko AC, Michaels M, Macario E, Tesauro G, Rowland JH (2005) Development of a linguistically and culturally appropriate booklet for Latino cancer survivors: lessons learned. Health Promot Pract 6(4):405–413
Sussner KM, Edwards T, Villagra C, Rodriguez MC, Thompson HS, Jandorf L, Valdimarsdottir HB (2015) BRCA genetic counseling among at-risk Latinas in New York City: new beliefs shape new generation. Journal of Genetic Counseling 24(1):134–148. doi:10.1007/s10897-014-9746-z
Stacey FG, James EL, Chapman K, Courneya KS, Lubans DR (2015) A systematic review and meta-analysis of social cognitive theory-based physical activity and/or nutrition behavior change interventions for cancer survivors. J Cancer Surviv 9(2):305–338
Steffen LE, Boucher KM, Damron BH, Pappas LM, Walters ST, Flores KG, Edwards SL (2015) Efficacy of a telehealth intervention on colonoscopy uptake when cost is a barrier: the family CARE cluster randomized controlled trial. Cancer Epidemiol Biomark Prev 24(9):1311–1318
Tung, N, Domchek, S M, Stadler, Z, Nathanson, K L, Couch, F, Garber, J E, ... & Robson, M E (2016) Counselling framework for moderate-penetrance cancer-susceptibility mutations. Nat Rev Clin Oncol
United States Department of Agriculture 2010 Rural-urban commuting area codes. http://www.ers.usda.gov/data-products/rural-urban-commuting-area-codes.aspx
van Dijk, S, Timmermans, D R, Meijers-Heijboer, H, Tibben, A, van Asperen, C J, & Otten, W (2006) Clinical characteristics affect the impact of an uninformative DNA test result: the course of worry and distress experienced by women who apply for genetic testing for breast cancer
van Oostrom I, Meijers-Heijboer H, Duivenvoorden HJ, Bröcker-Vriends AH, van Asperen CJ, Sijmons RH et al (2007) The common sense model of self-regulation and psychological adjustment to predictive genetic testing: a prospective study. Psycho-Oncology 16(12):1121–1129
Victorson D, Banas J, Smith J, Languido L, Shen E, Gutierrez S et al (2014) Esalud: designing and implementing culturally competent ehealth research with Latino patient populations. Am J Public Health 104(12):2259–2265
Villarreal-Garza C, Weitzel JN, Llacuachaqui M, Sifuentes E, Magallanes-Hoyos MC, Gallardo L et al (2015) The prevalence of BRCA1 and BRCA2 pathogenic variants among young Mexican women with triple-negative breast cancer. Breast Cancer Res Treat 150(2):389–394. doi:10.1007/s10549-015-3312-8
Vos J, Menko F, Jansen AM, van Asperen CJ, Stiggelbout AM, 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
Waters EA, Sullivan HW, Finney Rutten LJ (2009) Cancer prevention information-seeking among Hispanic and non-Hispanic users of the National Cancer Institute's cancer information service: trends in telephone and livehelp use. J Health Commun 14(5):476–486. doi:10.1080/10810730903032952
Weitzel JN, Clague J, Martir-Negron A, Ogaz R, Herzog J, Ricker C et al (2013) Prevalence and type of BRCA pathogenic variants in Hispanics undergoing genetic cancer risk assessment in the Southwestern United States: a report from the Clinical Cancer Genetics Community Research Network. J Clin Oncol 31(2):210–216. doi:10.1200/Jco.2011.41.0027
White HD (2005) Adherence and outcomes: it's more than taking the pills. Lancet 366(9502):1989–1991
World Health Organization (2003) WHO fruit and vegetable promotion initiative—report of the meeting, Geneva 25–27 August 2003. Geneva, Switzerland. http://www.who.int/dietphysicalactivity/publications/f&v_promotion_initiative_report.pdf?ua=1
Yorczyk A, Robinson LS, Ross TS (2015) Use of panel tests in place of single gene tests in the cancer genetics clinic. Clin Genet 88(3):278–282. doi:10.1111/cge.12488
Acknowledgments
The study was supported by grants from the National Cancer Institute at the National Institutes of Health (1R01CA129142; A.Y.K.) and the University of New Mexico Comprehensive Cancer Center Support Grant: Development Funds (P30CA118100; C.L.W.) and the Surface Family Trust.
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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. Informed consent was obtained from all patients for being included in the study.
Conflict of interest
Belinda Vicuña, Harold D. Delaney, Kristina G. Flores, Lori Ballinger, Melanie E. Royce, Zoneddy R. Dayao, Tuya Pal, and Anita Y. Kinney declare that they have no conflict of interest.
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Vicuña, B., Delaney, H.D., Flores, K.G. et al. Preferences for multigene panel testing for hereditary breast cancer risk among ethnically diverse BRCA-uninformative families. J Community Genet 9, 81–92 (2018). https://doi.org/10.1007/s12687-017-0322-8
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Keywords
- BRCA-uninformative
- Multigene panel testing
- Interest
- Family
- Hispanic
- Risk communication