# Cost-effectiveness of Whole Genome Sequencing of Healthy Adults

> **NIH NIH K01** · HARVARD PILGRIM HEALTH CARE, INC. · 2020 · $113,512

## Abstract

ABSTRACT
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 ...

## Key facts

- **NIH application ID:** 9970259
- **Project number:** 5K01HG009173-06
- **Recipient organization:** HARVARD PILGRIM HEALTH CARE, INC.
- **Principal Investigator:** Kurt Derek Christensen
- **Activity code:** K01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $113,512
- **Award type:** 5
- **Project period:** 2020-05-16 → 2021-12-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9970259

## Citation

> US National Institutes of Health, RePORTER application 9970259, Cost-effectiveness of Whole Genome Sequencing of Healthy Adults (5K01HG009173-06). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9970259. Licensed CC0.

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