Literature DB >> 35803232

Digital health-enabled genomics: Opportunities and challenges.

Yvonne Bombard1, Geoffrey S Ginsburg2, Amy C Sturm3, Alicia Y Zhou4, Amy A Lemke5.   

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.
Copyright © 2022 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

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Year:  2022        PMID: 35803232      PMCID: PMC9300757          DOI: 10.1016/j.ajhg.2022.05.001

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.043


  56 in total

1.  Why patients do not attend for their appointments at a genetics clinic.

Authors:  L Humphreys; A G Hunter; A Zimak; A O'Brien; Y Korneluk; M Cappelli
Journal:  J Med Genet       Date:  2000-10       Impact factor: 6.318

2.  An artificially intelligent chat agent that answers adolescents' questions related to sex, drugs, and alcohol: an exploratory study.

Authors:  Rik Crutzen; Gjalt-Jorn Y Peters; Sarah Dias Portugal; Erwin M Fisser; Jorne J Grolleman
Journal:  J Adolesc Health       Date:  2010-12-30       Impact factor: 5.012

3.  The Genomics ADvISER: development and usability testing of a decision aid for the selection of incidental sequencing results.

Authors:  Yvonne Bombard; Marc Clausen; Chloe Mighton; Lindsay Carlsson; Selina Casalino; Emily Glogowski; Kasmintan Schrader; Michael Evans; Adena Scheer; Nancy Baxter; Jada G Hamilton; Jordan Lerner-Ellis; Kenneth Offit; Mark Robson; Andreas Laupacis
Journal:  Eur J Hum Genet       Date:  2018-04-27       Impact factor: 4.246

4.  Patient assessment of chatbots for the scalable delivery of genetic counseling.

Authors:  Tara Schmidlen; Marci Schwartz; Kristy DiLoreto; H Lester Kirchner; Amy C Sturm
Journal:  J Genet Couns       Date:  2019-09-24       Impact factor: 2.537

5.  A randomized trial of a prenatal genetic testing interactive computerized information aid.

Authors:  Lynn M Yee; Michael Wolf; Rebecca Mullen; Ashley R Bergeron; Stacy Cooper Bailey; Robert Levine; William A Grobman
Journal:  Prenat Diagn       Date:  2014-03-18       Impact factor: 3.050

6.  Communicating risk of hereditary breast and ovarian cancer with an interactive decision support tool.

Authors:  Douglas J Rupert; Linda B Squiers; Jeanette M Renaud; Nedra S Whitehead; Roger J Osborn; Robert D Furberg; Claudia M Squire; Janice P Tzeng
Journal:  Patient Educ Couns       Date:  2013-05-09

7.  Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time.

Authors:  Jonathan S Berg; Muin J Khoury; James P Evans
Journal:  Genet Med       Date:  2011-06       Impact factor: 8.822

8.  Evaluation of a decision aid for incidental genomic results, the Genomics ADvISER: protocol for a mixed methods randomised controlled trial.

Authors:  Salma Shickh; Marc Clausen; Chloe Mighton; Selina Casalino; Esha Joshi; Emily Glogowski; Kasmintan A Schrader; Adena Scheer; Christine Elser; Seema Panchal; Andrea Eisen; Tracy Graham; Melyssa Aronson; Kara M Semotiuk; Laura Winter-Paquette; Michael Evans; Jordan Lerner-Ellis; June C Carroll; Jada G Hamilton; Kenneth Offit; Mark Robson; Kevin E Thorpe; Andreas Laupacis; Yvonne Bombard
Journal:  BMJ Open       Date:  2018-04-26       Impact factor: 2.692

9.  Acceptability of artificial intelligence (AI)-led chatbot services in healthcare: A mixed-methods study.

Authors:  Tom Nadarzynski; Oliver Miles; Aimee Cowie; Damien Ridge
Journal:  Digit Health       Date:  2019-08-21

10.  The medical genetics workforce: an analysis of clinical geneticist subgroups.

Authors:  Judith A Cooksey; Gaetano Forte; Patricia A Flanagan; Judith Benkendorf; Miriam G Blitzer
Journal:  Genet Med       Date:  2006-10       Impact factor: 8.822

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