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Review
. 2022 Jul 7;109(7):1190-1198.
doi: 10.1016/j.ajhg.2022.05.001.

Digital health-enabled genomics: Opportunities and challenges

Yvonne Bombard  1 , Geoffrey S Ginsburg  2 , Amy C Sturm  3 , Alicia Y Zhou  4 , Amy A Lemke  5
Affiliations
Review

Digital health-enabled genomics: Opportunities and challenges

Yvonne Bombard et al. Am J Hum Genet. .

Abstract

Digital health solutions, with apps, virtual care, and electronic medical records, are gaining momentum across all medical disciplines, and their adoption has been accelerated, in part, by the COVID-19 pandemic. Personal wearables, sensors, and mobile technologies are increasingly being used to identify health risks and assist in diagnosis, treatment, and monitoring of health and disease. Genomics is a vanguard of digital healthcare as we witness a convergence of the fields of genomic and digital medicine. Spurred by the acute need to increase health literacy, empower patients' preference-sensitive decisions, or integrate vast amounts of complex genomic data into the clinical workflow, there has been an emergence of digital support tools in genomics-enabled care. We present three use cases that demonstrate the application of these converging technologies: digital genomics decision support tools, conversational chatbots to scale the genetic counseling process, and the digital delivery of comprehensive genetic services. These digital solutions are important to facilitate patient-centered care delivery, improve patient outcomes, and increase healthcare efficiencies in genomic medicine. Yet the development of these innovative digital genomic technologies also reveals strategic challenges that need to be addressed before genomic digital health can be broadly adopted. Alongside key evidentiary gaps in clinical and cost-effectiveness, there is a paucity of clinical guidelines, policy, and regulatory frameworks that incorporate digital health. We propose a research agenda, guided by learning healthcare systems, to realize the vision of digital health-enabled genomics to ensure its sustainable and equitable deployment in clinical care.

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Conflict of interest statement

Declaration of interests G.S.G. is an employee of the National Institutes of Health, the Department of Health and Human Services, and the United States government. The opinions expressed in this article are the author’s own and do not reflect the view of these organizations. This article was prepared while G.S.G. was employed at Duke University. At that time, G.S.G. was a consultant for KonicaMinolta and Fabric Genomics. G.S.G. was an owner of Peer Medical, Origin Commercial Advisors, Predigen, MeTree&You, and Coprata. G.S.G. received royalties from Elsevier. A.Y.Z. is a full-time employee and shareholder of Color Health, Inc. A.C.S. is an employee of 23andMe. The article was prepared while A.C.S. was employed at Geisinger. At that time, A.C.S. was a consultant for Invitae and 23andMe.

Figures

Figure 1
Figure 1
Digital technologies across the clinical genomics pathway
See this image and copyright information in PMC

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