Evidence map›Paper›PMID 35803232›Full record

ReviewAmerican journal of human genetics2022

Digital health-enabled genomics: Opportunities and challenges.

Yvonne Bombard, Geoffrey S Ginsburg, Amy C Sturm, Alicia Y Zhou, Amy A Lemke

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in American journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
35citing papers in PubMed, 2 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

35 citing papers in PubMed, 2 syntheses or guidelines pooled it.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Yvonne BombardUniversity 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.
Geoffrey S GinsburgAll of Us Research Program, National Institutes of Health, Bethesda, MD 20892, USA.
Amy C Sturm23andMe, 223 North Mathilda Avenue, Sunnyvale, CA 94086, USA.
Alicia Y ZhouColor Health, Inc, 831 Mitten Road, Burlingame, CA 94010, USA.
Amy A LemkeNorton Children's Research Institute, Affiliated with the University of Louisville School of Medicine, 571 South Floyd Street, Louisville, KY 40202, USA.

Funding

Identification Methods, Patient Activation, and Cascade Testing for FH: IMPACT-FHR01HL148246 · NHLBI · GEISINGER CLINIC · PI Ana Morales Reyes · 2019 to 2026
$5.2M
CIHR 143310CIHR 165963NHLBI NIH HHS R01 HL148246
6 · The paper itself

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.

Indexed as

COVID-19PandemicsDelivery of Health CareElectronic Health RecordsGenomicsHumans

Identifiers

PMID35803232
PMCPMC9300757

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.