More research is needed identify approaches to improve how patients and providers understand, communicate, and make choices about using exome sequencing to guide health care decisions. These challenges are further compounded in populations with limited literacy or other barriers to meaningfully understand or act upon results. To address these issues, this project will recruit >60% racially, ethnically, and socioeconomically diverse patients. The proposed project is an extension of our CSER1 project on carrier testing as both projects involve screening healthy people in integrated health systems to allow the unique opportunity to evaluate downstream health care decisions. Leveraging stakeholder input garnered through CSER1, the project objective is to implement a hereditary cancer risk assessment program in healthy 18-50 year-olds in primary care settings within vertically integrated health delivery systems (Kaiser Permanente) and a federal qualified health center (Denver Health) and compare the impact of exome sequencing in 1100 patients to patients who seek usual care. The project will focus on hereditary breast and ovarian cancer and Lynch syndrome, for which there are established clinical recommendations for cancer prevention. We will assess: 1) exome sequencing implementation and interpretation; 2) tailored interactions including a contextualized consent process, a novel decision aid for selecting the optional categories of additional results, and a modified approach to results disclosure and genetic counseling; 3) tools for medical interpreters (interactive web-based education) and primary care providers (electronic heath management tool); 4) the clinical utility (healthcare utilization and adherence to recommended care) and personal utility of primary and additional results from exome sequencing; 5) the costs of the program; and 6) the ethical and policy implications of considering personal utility of genomic information on decisions for health care coverage. This experienced team was highly productive in CSER1 and has the capability to successfully carry out the proposed research, with expertise in genetic epidemiology, medical genetics, health communications, health informatics, economics, anthropology, biostatistics, and bioethics. We will engage diverse stakeholders including patients, providers, and health systems administrators in the design, implementation, and analyses and will employ ethnographic methods to assess the research team activities. Our unique patient populations and integrated health information systems will allow us to investigate relevance of exome sequencing on downstream health care utilization and costs. The results of this project, which leverages an established clinical genetics paradigm, will provide a model to address challenges in equity for access to exome sequencing among underserved and diverse patients that can be applied to additional aspects of genomic medicine in the future.
Exome sequencing is quickly changing how we practice medicine. Additional research needs to demonstrate its utility and see how it affects care in diverse populations. This study will assess how to best use exome sequencing and how to apply it to diverse populations.
|Lynch, Frances L; Himes, Patricia; Gilmore, Marian J et al. (2018) Time Costs for Genetic Counseling in Preconception Carrier Screening with Genome Sequencing. J Genet Couns 27:823-833|
|Wolf, Susan M; Amendola, Laura M; Berg, Jonathan S et al. (2018) Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium. Genet Med 20:545-553|
|Kraft, Stephanie A; Doerr, Megan (2018) Engaging populations underrepresented in research through novel approaches to consent. Am J Med Genet C Semin Med Genet 178:75-80|
|Amendola, Laura M; Berg, Jonathan S; Horowitz, Carol R et al. (2018) The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations. Am J Hum Genet 103:319-327|
|Sanghvi, Rashesh V; Buhay, Christian J; Powell, Bradford C et al. (2018) Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers. Genet Med 20:855-866|
|Kraft, S A; Schneider, J L; Leo, M C et al. (2018) Patient actions and reactions after receiving negative results from expanded carrier screening. Clin Genet 93:962-971|
|Kauffman, Tia L; Irving, Stephanie A; Leo, Michael C et al. (2017) The NextGen Study: patient motivation for participation in genome sequencing for carrier status. Mol Genet Genomic Med 5:508-515|
|O'Daniel, Julianne M; McLaughlin, Heather M; Amendola, Laura M et al. (2017) A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. Genet Med 19:575-582|
|Kauffman, Tia L; Wilfond, Benjamin S; Jarvik, Gail P et al. (2017) Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing. Contemp Clin Trials 53:100-105|
|Himes, Patricia; Kauffman, Tia L; Muessig, Kristin R et al. (2017) Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing. Genet Med 19:803-808|
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