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American BRCA Outcomes and Utilization of Testing (ABOUT) Study: A Pragmatic Research Model that Incorporates Personalized Medicine/Patient-Centered Outcomes in a Real World Setting

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Journal of Genetic Counseling

Abstract

Research to date regarding identification and management of hereditary breast and ovarian cancer syndrome (HBOC) in the U.S. has been confined primarily to academic center-based studies with limited patient engagement. To begin to understand and address the current gaps and disparities in delivery of services for the appropriate identification and optimal risk management of individuals with HBOC, we designed and have initiated the American BRCA Outcomes and Utilization of Testing (ABOUT) Study. ABOUT relies on a collaborative patient advocacy, academic and industry partnership to recruit and engage U.S. individuals who are at increased risk for HBOC and investigate their experiences, decisions and outcomes. It utilizes an extensive research infrastructure, including an interactive web-based data system and electronic interfaces for secure online participation and automated data exchange. We describe the novel recruitment approach that was designed for collaboration with a national commercial health plan partner to identify all individuals for whom a healthcare provider orders a BRCA test and mail to each individual an invitation to participate and study packet. The study packet contains detailed information about the study, a baseline questionnaire and informed consent for participation in the study, for release of relevant medical and health plan records and for ongoing research engagement. This approach employs patient-reported, laboratory-reported and health plan-reported outcomes and facilitates longitudinal engagement. We believe that the type of innovative methodology and collaborative framework we have developed for ABOUT is an ideal foundation for a patient-powered research network. This approach can make substantial contributions to identifying current and best practices in HBOC, leading to improved strategies for clinical care and optimal health outcomes among individuals with high inherited risk for cancer.

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References

  • Advice about familial aspects of breast cancer and epithelial ovarian cancer. (2011). National breast cancer centre.

  • Aetna. (2012). Clinical policy bulletin: BRCA Testing, prophylactic mastectomy, and prophylactic Oophorectomy. Retrieved from https://doi.org/www.aetna.com/cpb/medical/data/200_299/0227.html.

  • American society of clinical oncology policy statement update: genetic testing for cancer susceptibility. (2003). J Clin Oncol, 21(12), 2397–2406. Atlas.ti.

  • Begg CB, H. R., Borg, A., Malone, K. E., Concannon, P., Thomas, D. C., Langholz, B., Bernstein, L., Olsen, J. H., Lynch, C. F., Anton-Culver, H., Capanu, M., Liang, X., Hummer, A. J., Sima, C., & Bernstein, J. L. (2008). Variation of breast cancer risk among BRCA1/2 carriers. JAMA, 299(2), 194–201.

    PubMed  PubMed Central  Google Scholar 

  • Carolina Georgia Center, C. G. N. (2003). Family history survey: national cancer institutes.

  • Cella, D., Hughes, C., Peterman, A., Chang, C.-H., Peshkin, B. N., Schwartz, M. D., & Lerman, C. (2002). A brief assessment of concerns associated with genetic testing for cancer: the multidimensional impact of cancer risk assessment (MICRA) questionnaire. Health Psychology, 21(6), 564–572. doi:https://doi.org/10.1037/0278-6133.21.6.564.

    Article  PubMed  Google Scholar 

  • Chen, S., & Parmigiani, G. (2007). Meta-analysis of BRCA1 and BRCA2 penetrance. Journal of Clinical Oncology, 25(11), 1329–1333. doi:https://doi.org/10.1200/JCO.2006.09.1066.

    Article  PubMed  Google Scholar 

  • Croshaw, R. L., Marshall, Megan L., Williams, Tesha L., Erb, Kathleen M., Julian, Thomas B. (2011). Prophylactic and therapeutic breast conservation in BRCA1/2 mutation carriers. Int. J. Breast Cancer, 2011. doi:https://doi.org/10.4061/2011/481563

    Article  Google Scholar 

  • DeStefano F, W. N., Lux LJ, Lohr KN. (2008). Infrastructure to monitor utilization and outcomes of gene-based applications: an assessment. Agency for Healthcare Research and Quality(08-EHC012).

  • Dillman, D. A. (2011). Mail and internet surveys: the tailored design method-2007 update with new internet, visual, and mixed-mode guide: Wiley. com.

  • Domchek, S. M., Friebel, T. M., Singer, C. F., Evans, D. G., Lynch, H. T., Isaacs, C., & Rebbeck, T. R. (2010). Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA, 304(9), 967–975. doi:https://doi.org/10.1001/jama.2010.1237.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Ford, D. E. D., Bishop, D. T., et al. (1994). Risks of cancer in BRCA1 mutation carriers. Lancet, 343, 692–695.

    Article  CAS  PubMed  Google Scholar 

  • Gail, M. H., Brinton, L. A., Byar, D. P., Corle, D. K., Green, S. B., Schairer, C., & Mulvihill, J. J. (1989). Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. Journal of the National Cancer Institute, 81(24), 1879–1886.

    Article  CAS  PubMed  Google Scholar 

  • Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement. (2005). Ann Intern Med, 143(5), 355–361. doi: 143/5/355 [pii]

  • Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility. (2005). U.S. Preventive services task force retrieved from https://doi.org/www.uspreventiveservicestaskforce.org/uspstf05/brcagen/brcagenrs.htm.

  • Hall, M. J., & Olopade, O. I. (2006). Disparities in genetic testing: thinking outside the BRCA box. Journal of Clinical Oncology, 24(14), 2197–2203. doi:https://doi.org/10.1200/jco.2006.05.5889.

    Article  PubMed  Google Scholar 

  • Hall, J. M., Lee, M. K., Newman, B., Morrow, J. E., Anderson, L. A., Huey, B., & King, M. C. (1990). Linkage of early-onset familial breast cancer to chromosome 17q21. Science, 250(4988), 1684–1689.

    Article  CAS  PubMed  Google Scholar 

  • King, M. C., Marks, J. H., & Mandell, J. B. (2003). Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science, 302(5645), 643–646. doi:https://doi.org/10.1126/science.1088759.

    Article  CAS  PubMed  Google Scholar 

  • Kurian, A. W., Sigal, B., & Plevritis, S. K. (2010). Survival analysis of cancer risk reduction strategies for BRCA1/2 mutation carriers. Journal of Clinical Oncology, 28(2), 222–231.

    Article  CAS  PubMed  Google Scholar 

  • Lerman, C., Narod, S., Schulman, K., et al. (1996). BRCA1 testing in families with hereditary breast-ovarian cancer: a prospective study of patient decision making and outcomes. JAMA, 275(24), 1885–1892. doi:https://doi.org/10.1001/jama.1996.03530480027036.

    Article  CAS  PubMed  Google Scholar 

  • Miki, Y., Swensen, J., Shattuck-Eidens, D., Futreal, P. A., Harshman, K., Tavtigian, S., et al. (1994). A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science, 266(5182), 66–71.

    Article  CAS  PubMed  Google Scholar 

  • Myriad. (2012). Myriad group announces full year 2012 results. Zurich: Paper presented at the Media & Analyst Conference.

    Google Scholar 

  • NCCN guidelines version 1.2014: breast and/or ovarian cancer genetic assessment. (2014) (pp. 6): national comprehensive cancer network.

  • NCCN guidelines version 1.2014: hereditary breast and/or ovarian cancer syndrome. (2014) (pp. 11): national comprehensive cancer network.

  • Genetic susceptibility to breast and ovarian cancer: assessment, counseling and testing guidelines (1999). American college of medical genetics foundation.

  • Anglian Breast Cancer Study Group. (2000). Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. British Journal of Cancer, 83(10), 1301–1308. doi:https://doi.org/10.1054/bjoc.2000.1407.

    Article  PubMed Central  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  CAS  PubMed  PubMed Central  Google Scholar 

  • Risch, H. A., McLaughlin, J. R., Cole, D. E., Rosen, B., Bradley, L., Kwan, E., & Narod, S. A. (2001). Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. American Journal of Human Genetics, 68(3), 700–710.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Rockhill, B., Spiegelman, D., Byrne, C., Hunter, D. J., & Colditz, G. A. (2001). Validation of the Gail et al. model of breast cancer risk prediction and implications for chemoprevention. Journal of the National Cancer Institute, 93(5), 358–366.

    Article  CAS  PubMed  Google Scholar 

  • Satagopan, J. M., Boyd, J., Kauff, N. D., Robson, M., Scheuer, L., Narod, S., & Offit, K. (2002). Ovarian cancer risk in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations. Clinical Cancer Research, 8(12), 3776–3781.

    CAS  PubMed  Google Scholar 

  • Schwartz, M. D., Isaacs, C., Graves, K. D., Poggi, E., Peshkin, B. N., Gell, C., & Perley, L. (2012). Long-term outcomes of BRCA1/BRCA2 testing: risk reduction and surveillance. Cancer, 118(2), 510–517. doi:https://doi.org/10.1002/cncr.26294.

    Article  PubMed  Google Scholar 

  • SEER stat fact sheet: breast. (2010). National Cancer Institute.

  • Struewing, J. P., Hartge, P., Wacholder, S., Baker, S. M., Berlin, M., McAdams, M., & Tucker, M. A. (1997). The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. New England Journal of Medicine, 336(20), 1401–1408.

    Article  CAS  Google Scholar 

  • Tyrer, J., Duffy, S. W., & Cuzick, J. (2004). A breast cancer prediction model incorporating familial and personal risk factors. Statistics in Medicine, 23(7), 1111–1130. doi:https://doi.org/10.1002/sim.1668.

    Article  PubMed  Google Scholar 

  • Whittemore, A. S., Gong, G., & Itnyre, J. (1997). Prevalence and contribution of BRCA1 mutations in breast cancer and ovarian cancer: results from three U.S. population-based case–control studies of ovarian cancer. American Journal of Human Genetics, 60(3), 496–504.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Wooster, R., Neuhausen, S. L., Mangion, J., Quirk, Y., Ford, D., Collins, N., et al. (1994). Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science, 265(5181), 2088–2090.

    Article  CAS  PubMed  Google Scholar 

  • Wooster, R., Bignell, G., Lancaster, J., Swift, S., Seal, S., Mangion, J., & Micklem, G. (1995). Identification of the breast cancer susceptibility gene BRCA2. Nature, 378(6559), 789–792.

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgments

This research was supported with funds received through the Aetna Foundation as well as in-kind support from Aetna, USF, FORCE, ACS, Georgetown University Lombardi Comprehensive Cancer Center, and Emory University Rollins School of Public Health. We would like to thank Deb Duquette and Sarah Mange, from the Michigan Department of Community Health Cancer Genomics Program (MI DCHCGP), and Elizabeth Bourquardez Clark, from USF, for contributing to the review and refinement of this manuscript; Rose Bishop Kovatch, Jana Pruski-Clark, Vilia Corvizon, Jenna McLosky, Beth E. Anderson and Deb Duquette for contributing to the review and refinement of the ABOUT baseline and follow-up questionnaires prior to dissemination; USF undergraduate students who performed systems testing for data entry, checking and cleaning : Ethan Arrington, Chenin Blanco, Dominic Bracero, Bridget Budny, Mitchell Darnell, Barbara DaVilla, Amanda DeRenzis, Bradley Fagerberg, Nicole Fernung, Dana Hobi, Paul Johannes, Sherrie Leon, Pedro Limas, Hannah McGrew, Danielle Melton, Jude Nawlo, Kaajal Patel, Niral A. Patel, Andrianna Santos, Tyler Schaefer, Puja Shah, Jhulianna Vivar, Adam Weaver, and Andreas Zacharopoulos; and especially Aetna members who agreed to participate in the study.

Conflict of Interest

Dr. Sutphen is the President and Chief Medical Officer of a national telephone genetic counseling provider organization, Informed Medical Decisions, Inc.

Joanne Armstrong, Michele Toscano, Nancy Kotchko, Sue Friedman, Marc D. Schwartz, Katherine S. Virgo, Kristian Lynch, James E. Andrews, Claudia X. Aguado Loi, Joseph E. Bauer, Carolina Casares, Rachel Threet Teten, Matthew R. Kondoff, Ashley D. Molina, Mehrnaz Abdollahian, Lana Brand, and Gregory S. Walker declare that 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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Authors and Affiliations

  1. Women’s Health, Aetna, Hartford, CT, USA

    Joanne Armstrong, Michele Toscano & Nancy Kotchko

  2. Facing Our Risk of Cancer Empowered, Inc (FORCE), Tampa, FL, USA

    Sue Friedman

  3. Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA

    Marc D. Schwartz

  4. American Cancer Society, Inc, Atlanta, GA, USA

    Katherine S. Virgo, Joseph E. Bauer, Carolina Casares & Gregory S. Walker

  5. School of Public Health, Emory University Rollins, Atlanta, GA, USA

    Katherine S. Virgo

  6. Morsani College of Medicine Epidemiology Center, University of South Florida, 3650 Spectrum Blvd, Suite 100, Tampa, FL, 33612, USA

    Kristian Lynch, Rachel Threet Teten, Matthew R. Kondoff, Ashley D. Molina & Rebecca Sutphen

  7. School of Information, University of South Florida, Tampa, FL, USA

    James E. Andrews & Lana Brand

  8. Department of Child and Family Studies, University of South Florida, Tampa, FL, USA

    Claudia X. Aguado Loi

  9. Department of Industrial and Management Systems Engineering, University of South Florida, Tampa, FL, USA

    Mehrnaz Abdollahian

  10. Northeast Georgia Health System, Gainesville, USA

    Lana Brand

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  1. Joanne Armstrong
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  2. Michele Toscano
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  3. Nancy Kotchko
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  4. Sue Friedman
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  7. Kristian Lynch
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  9. Claudia X. Aguado Loi
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  10. Joseph E. Bauer
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  11. Carolina Casares
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  12. Rachel Threet Teten
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  13. Matthew R. Kondoff
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  14. Ashley D. Molina
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  15. Mehrnaz Abdollahian
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  16. Lana Brand
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  17. Gregory S. Walker
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  18. Rebecca Sutphen
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Correspondence to Rebecca Sutphen.

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Armstrong, J., Toscano, M., Kotchko, N. et al. American BRCA Outcomes and Utilization of Testing (ABOUT) Study: A Pragmatic Research Model that Incorporates Personalized Medicine/Patient-Centered Outcomes in a Real World Setting. J Genet Counsel 24, 18–28 (2015). https://doi.org/10.1007/s10897-014-9750-3

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  • DOI: https://doi.org/10.1007/s10897-014-9750-3

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