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Digital health-enabled genomics: Opportunities and challenges.
Bombard, Yvonne; Ginsburg, Geoffrey S; Sturm, Amy C; Zhou, Alicia Y; Lemke, Amy A.
  • Bombard Y; University of Toronto, Genomics Health Services Research Program, St. Michael's Hospital, Unity Health Toronto, 30 Bond Street, Toronto, ON, M5B 1W8, Canada. Electronic address: yvonne.bombard@utoronto.ca.
  • Ginsburg GS; All of Us Research Program, National Institutes of Health, Bethesda, MD 20892, USA.
  • Sturm AC; 23andMe, 223 North Mathilda Avenue, Sunnyvale, CA 94086, USA.
  • Zhou AY; Color Health, Inc, 831 Mitten Road, Burlingame, CA 94010, USA.
  • Lemke AA; Norton Children's Research Institute, Affiliated with the University of Louisville School of Medicine, 571 South Floyd Street, Louisville, KY 40202, USA.
Am J Hum Genet ; 109(7): 1190-1198, 2022 07 07.
Article in English | MEDLINE | ID: covidwho-1914110
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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Full text: Available Collection: International databases Database: MEDLINE Main subject: Pandemics / COVID-19 Type of study: Diagnostic study / Prognostic study Limits: Humans Language: English Journal: Am J Hum Genet Year: 2022 Document Type: Article

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Full text: Available Collection: International databases Database: MEDLINE Main subject: Pandemics / COVID-19 Type of study: Diagnostic study / Prognostic study Limits: Humans Language: English Journal: Am J Hum Genet Year: 2022 Document Type: Article