Evidence map›Paper›PMID 39669596›Full record

ArticleGenetics in medicine open2024

Genetics Adviser: The development and usability testing of a new patient digital health application to support clinical genomic testing.

Marc Clausen, Suvetha Krishnapillai, Daena Hirjikaka, Rita Kodida, Salma Shickh, Emma Reble, Chloe Mighton, Jordan Sam, Ella Adi-Wauran, Nancy N Baxter and 19 more

Abstract read
In one paragraph

Article in Genetics in medicine open, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
–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

9 citing papers in PubMed.

  1. Article
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  5. Article
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  7. Article
  8. Genomic Screening Consortium for Australian Newborns (GenSCAN).Journal of paediatrics and child health · 2025
    Review
  9. Article
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

29 authors.

Marc ClausenGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.
Suvetha KrishnapillaiGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.
Daena HirjikakaGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.
Rita KodidaGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.
Salma ShickhGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.
Emma RebleGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.
Chloe MightonGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.
Jordan SamGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.
Ella Adi-WauranGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.
Nancy N BaxterMelbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia.
Geoff FeldmanGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.
Emily GlogowskiSanofi, Cambridge, MA.
Jordan Lerner-EllisDepartment of Laboratory Medicine & Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Adena ScheerGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.
Serena Shastri-EstradaGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.
Cheryl ShumanSanofi, Cambridge, MA.
Susan Randall ArmelPrincess Margaret Cancer Centre, University of Toronto, Toronto, Ontario, Canada.
Melyssa AronsonZane Cohen Centre, Sinai Health System, Toronto, Ontario, Canada.
Tracy GrahamOdette Cancer Centre, Sunnybrook Hospital, Toronto, Ontario, Canada.
Seema PanchalZane Cohen Centre, Sinai Health System, Toronto, Ontario, Canada.
Kevin E ThorpeDalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.
June C CarrollZane Cohen Centre, Sinai Health System, Toronto, Ontario, Canada.
Andrea EisenOdette Cancer Centre, Sunnybrook Hospital, Toronto, Ontario, Canada.
Christine ElserPrincess Margaret Cancer Centre, University of Toronto, Toronto, Ontario, Canada.
Raymond H KimDepartment of Medicine, University of Toronto, Toronto, Ontario, Canada.
Hanna FaghfouryZane Cohen Centre, Sinai Health System, Toronto, Ontario, Canada.
Kasmintan A SchraderDepartment of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Emily SetoInstitute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
Yvonne BombardGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Increasing demand for genomic testing coupled with genetics workforce shortages has placed unsustainable pressure on standard models of care. Digital tools can offer improved access, efficiency, and cost savings. We created a patient-facing digital health application to support genomic testing. Methods: We developed the digital application through user-centered design, guided by an advisory board. We tested its usability and acceptability with patients, practitioners, and members of the general public using mixed methods; data were analyzed using qualitative description and descriptive statistics. Results: The "Genetics Adviser" delivers pre-test education, counseling, and post-test return of results adaptable to any population, test platform, and setting. Usability testing with 25 patients, the general public, and genetics practitioners (15/25 female; mean age range 40-49 years) demonstrated enthusiasm about the application; users found it easy to navigate and comprehend. Acceptance testing with 19 patients and the public (13/19 female; mean age range 40-49 years) indicated high acceptability of the application and moderate knowledge of genomic sequencing after use. Conclusion: The Genetics Adviser is a comprehensive, interactive, patient-centered application found to have high acceptability and usability for pre- and post-test genomic testing, counseling, and return of results adaptable for multiple testing platforms, populations, and settings.

Indexed as

Digital healthDigital toolGenetic counselingGenetic testingGenomic testing

Identifiers

PMID39669596
PMCPMC11613922

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.