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

Marc Clausen¹, Suvetha Krishnapillai^{1

2}, Daena Hirjikaka¹, Rita Kodida¹, Salma Shickh^{1

2}, Emma Reble¹, Chloe Mighton^{1

2}, Jordan Sam¹, Ella Adi-Wauran^{1

2}, Nancy N Baxter³, Geoff Feldman¹, Emily Glogowski⁴, Jordan Lerner-Ellis^{5

6}, Adena Scheer^{1

7}, Serena Shastri-Estrada¹, Cheryl Shuman^{4

8}, Susan Randall Armel⁹, Melyssa Aronson^{6

8}, Tracy Graham¹⁰, Seema Panchal⁶, Kevin E Thorpe¹¹, June C Carroll^{6

12}, Andrea Eisen¹⁰, Christine Elser^{9

13

14}, Raymond H Kim^{13

15

16}, Hanna Faghfoury^{6

17

18}, Kasmintan A Schrader^{19

20}, Emily Seto², Yvonne Bombard^{1

2

16}

Affiliations

¹ Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.
² Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
³ Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia.
⁴ Sanofi, Cambridge, MA.
⁵ Department of Laboratory Medicine & Pathobiology, University of Toronto, Toronto, Ontario, Canada.
⁶ Zane Cohen Centre, Sinai Health System, Toronto, Ontario, Canada.
⁷ Department Surgery, University of Toronto, Toronto, Ontario, Canada.
⁸ Department Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
⁹ Princess Margaret Cancer Centre, University of Toronto, Toronto, Ontario, Canada.
¹⁰ Odette Cancer Centre, Sunnybrook Hospital, Toronto, Ontario, Canada.
¹¹ Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.
¹² Department of Family and Community Medicine, University of Toronto, Toronto, Ontario, Canada.
¹³ Department of Medicine, University of Toronto, Toronto, Ontario, Canada.
¹⁴ Marvell Koffler Breast Center, Mount Sinai Hospital, Toronto, Ontario, Canada.
¹⁵ The Hospital for Sick Children, Toronto, Ontario, Canada.
¹⁶ Ontario Institute of Cancer Research, Toronto, Ontario, Canada.
¹⁷ Department of Medical Genetic and Genomics, University of Toronto, Ontario, Canada.
¹⁸ University Health Network, University of Toronto, Toronto, Ontario, Canada.
¹⁹ Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
²⁰ BC Cancer, Vancouver, British Columbia, Canada.

PMID: 39669596
PMCID: PMC11613922
DOI: 10.1016/j.gimo.2024.101814

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

Marc Clausen et al. Genet Med Open. 2024.

. 2024 Jan 23:2:101814.

doi: 10.1016/j.gimo.2024.101814. eCollection 2024.

Authors

Affiliations

¹ Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.
² Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
³ Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia.
⁴ Sanofi, Cambridge, MA.
⁵ Department of Laboratory Medicine & Pathobiology, University of Toronto, Toronto, Ontario, Canada.
⁶ Zane Cohen Centre, Sinai Health System, Toronto, Ontario, Canada.
⁷ Department Surgery, University of Toronto, Toronto, Ontario, Canada.
⁸ Department Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
⁹ Princess Margaret Cancer Centre, University of Toronto, Toronto, Ontario, Canada.
¹⁰ Odette Cancer Centre, Sunnybrook Hospital, Toronto, Ontario, Canada.
¹¹ Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.
¹² Department of Family and Community Medicine, University of Toronto, Toronto, Ontario, Canada.
¹³ Department of Medicine, University of Toronto, Toronto, Ontario, Canada.
¹⁴ Marvell Koffler Breast Center, Mount Sinai Hospital, Toronto, Ontario, Canada.
¹⁵ The Hospital for Sick Children, Toronto, Ontario, Canada.
¹⁶ Ontario Institute of Cancer Research, Toronto, Ontario, Canada.
¹⁷ Department of Medical Genetic and Genomics, University of Toronto, Ontario, Canada.
¹⁸ University Health Network, University of Toronto, Toronto, Ontario, Canada.
¹⁹ Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
²⁰ BC Cancer, Vancouver, British Columbia, Canada.

PMID: 39669596
PMCID: PMC11613922
DOI: 10.1016/j.gimo.2024.101814

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.

Keywords: Digital health; Digital tool; Genetic counseling; Genetic testing; Genomic testing.

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Conflict of interest statement

Yvonne Bombard and Marc Clausen are co–founders of Genetics Adviser. All other authors declare no conflicts of interest.

Figures

**Figure 1**
**Stages of Genetics Adviser development and testing.** RCT, randomized controlled trial.

See this image and copyright information in PMC

References

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

Affiliations

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

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

References

LinkOut - more resources

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