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

• Published in: Genetics in Medicine Open 2024, Vol.2, p.101814, Article 101814
• Main Authors: Clausen, Marc, Krishnapillai, Suvetha, Hirjikaka, Daena, Kodida, Rita, Shickh, Salma, Reble, Emma, Mighton, Chloe, Sam, Jordan, Adi-Wauran, Ella, Baxter, Nancy N., Feldman, Geoff, Glogowski, Emily, Lerner-Ellis, Jordan, Scheer, Adena, Shastri-Estrada, Serena, Shuman, Cheryl, Armel, Susan Randall, Aronson, Melyssa, Graham, Tracy, Panchal, Seema, Thorpe, Kevin E., Carroll, June C., Eisen, Andrea, Elser, Christine, Kim, Raymond H., Faghfoury, Hanna, Schrader, Kasmintan A., Seto, Emily, Bombard, Yvonne
• Format: Article
• Language: English
• Subjects: Digital health; Digital tool; Genetic counseling; Genetic testing; Genomic testing
• ISSN: 2949-7744; 2949-7744
• DOI: 10.1016/j.gimo.2024.101814

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. 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. 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. 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.