Whole genome sequencing has vast potential to improve the care of generally healthy adults by identifying predispositions for disease to facilitate targeted prevention and screening efforts, by informing treatment options when illnesses do develop, and more. It may also cause more harm than good through false-positive findings, through unnecessary monitoring because of incomplete genetic penetrance, and because the conditions identified by genomic sequencing may lack effective prevention options. Adding to the unease about genomic sequencing are concerns that its use among healthy adults will cause healthcare expenditures to surge not only due to the costs of sequencing, variant classification, and periodic re-analysis, but also by initiating a cascade of follow-up diagnostic testing and potentially-unnecessary screening. Uncertainties about the utility and costs of integrating genomic sequencing into clinical settings are hindering the development of genomic testing policies and discouraging payers from reimbursing for these services, particularly for testing of populations that are asymptomatic for disease. Reservations about embracing genomic testing may be warranted, but are currently based in speculation about the benefits, harms and costs of sequencing rather than evidence. For the field of genomics to achieve its potential now and in the future, research programs need to begin systematically assessing these outcomes with rigor. This career development grant addresses the dearth of cost-effectiveness researchers in genomics by proposing a research and training agenda that builds on the recognized skills of a young outcomes researcher in clinical genomics to help him launch an independent career investigating the cost-effectiveness of genomic sequencing. Already, the candidate is a high-profile researcher, having received an NIH-funded National Research Service Award and having published over two dozen peer-reviewed publications about psychological and behavioral responses to genomic information. Through this grant, this newly-appointed Instructor will gain additional skills in cost- effectiveness research alongside clinical trials by conducting a five-year follow-up of the healthcare costs and health outcomes from his proposed mentor's pioneering randomized trial of whole genome sequencing in the clinical care of healthy adults, the MedSeq Project. The candidate will also gain skills in decision modeling and working with ?big data? by creating a decision-analytic model that projects the costs and utility of genomic sequencing over patients' lifetimes. Lastly, the candidate will identify the areas of research that will provide the most value for cost-effectiveness research by conducting a value-of-information analysis about genomic sequencing among healthy adults. Findings from the proposed research will not only generate critically-needed insight about the value of genomic sequencing among healthy adults, but will also provide the candidate with foundational skills and pilot data for an R01 submission to understand the cost-effectiveness of genomic sequencing throughout patients' lives.

Public Health Relevance

The central goal of the proposed research is to determine the cost-effectiveness of integrating whole genome sequencing into the care of healthy adults. We will assess the health impact and cumulative healthcare costs of participants of a randomized clinical trial of whole genome sequencing five years after they received results, and we will extend these analyses over patients' lifetimes using decision analytic models. Findings will inform development of clinical guidelines and reimbursement strategies to accelerate the integration of sequencing into medical care.

National Institute of Health (NIH)
National Human Genome Research Institute (NHGRI)
Research Scientist Development Award - Research & Training (K01)
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Special Emphasis Panel (ZRG1)
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Kaufman, Dave J
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Harvard Pilgrim Health Care, Inc.
United States
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Christensen, Kurt D; Uhlmann, Wendy R; Roberts, J Scott et al. (2018) A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone. Genet Med 20:132-141
Christensen, Kurt D; Vassy, Jason L; Phillips, Kathryn A et al. (2018) Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial. Genet Med :
Roberts, J Scott; Robinson, Jill O; Diamond, Pamela M et al. (2018) Patient understanding of, satisfaction with, and perceived utility of whole-genome sequencing: findings from the MedSeq Project. Genet Med 20:1069-1076
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Christensen, Kurt D; Bernhardt, Barbara A; Jarvik, Gail P et al. (2018) Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings. Genet Med 20:1186-1195
Christensen, Kurt D; Phillips, Kathryn A; Green, Robert C et al. (2018) Cost Analyses of Genomic Sequencing: Lessons Learned from the MedSeq Project. Value Health 21:1054-1061
Vassy, Jason L; Christensen, Kurt D; Schonman, Erica F et al. (2017) The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. Ann Intern Med 167:159-169