The development and usability of 'The Genetics Navigator': a digital solution for adult and paediatric clinical genetics services

Saumeh Saeedi; Daena Hirijkaka; Marc Clausen; Stephanie Luca; Emma Reble; Rita Kodida; Daniel Assamad; Lauren Chad; Gregory Costain; Hanna Faghfoury; Josh Silver; Serena Shastri-Estrada; Maureen Smith; Robin Z Hayeems; Yvonne Bombard; Genetics Navigator Study Team

doi:10.1038/s41431-025-01871-4

The development and usability of 'The Genetics Navigator': a digital solution for adult and paediatric clinical genetics services

Eur J Hum Genet. 2025 May 30. doi: 10.1038/s41431-025-01871-4. Online ahead of print.

Authors

Saumeh Saeedi¹, Daena Hirijkaka¹, Marc Clausen¹, Stephanie Luca², Emma Reble¹, Rita Kodida¹, Daniel Assamad^{1

2

3}, Lauren Chad⁴, Gregory Costain^{4

5}, Hanna Faghfoury⁶, Josh Silver^{5

6}, Serena Shastri-Estrada^{7

8}, Maureen Smith⁹, Robin Z Hayeems^{2

3}, Yvonne Bombard^{10

11}; Genetics Navigator Study Team

Collaborators

Genetics Navigator Study Team:
Melyssa Aronson, Francois Bernier, Michael Brudno, June C Carroll, Ronald Cohn, Irfan Dhalla, Jan Friedman, Stacey Hewson, Trevor Jamieson, Rebekah Jobling, Anne-Marie Laberge, Jordan Lerner-Ellis, Eriskay Liston, Muhammad Mamdani, Christian Marshall, Matthew Osmond, Quynh Pham, Frank Rudzicz, Emily Seto, Cheryl Shuman, Kevin Thorpe, Wendy J Ungar

Affiliations

¹ Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
² Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON, Canada.
³ Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.
⁴ Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
⁵ Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
⁶ Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Sinai Health System, Toronto, ON, Canada.
⁷ Genetics Navigator Advisory Board, Toronto, ON, Canada.
⁸ Department of Occupational Science and Occupational Therapy, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada.
⁹ Patient Partner, Canadian Organization for Rare Disorders, Toronto, ON, Canada.
¹⁰ Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada. yvonne.bombard@utoronto.ca.
¹¹ Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada. yvonne.bombard@utoronto.ca.

PMID: 40447700
DOI: 10.1038/s41431-025-01871-4

Abstract

Clinical genetic services address diverse genetic testing needs, but there is no comprehensive digital solution to meet this variety. We aimed to develop and test the usability of the Genetics Navigator (GN), a platform designed to enhance genetic services for paediatric and adult patients. The GN prototype was created with input from a patient and clinician advisory board, informed by prior research. Usability testing involved genetics patients (N = 14), parents of paediatric patients (N = 4), and the general public (N = 10). Participants provided feedback using the 'think aloud' method when using the platform. We used the System Usability Scale (SUS) for quantitative evaluation. Qualitative data were coded by platform section, item, and identified key areas for improvement. Building on the Genetics Adviser platform, we added video and written content for various genetic conditions and patient groups, including pre-test education, counselling, decision support, history collection, post-test result disclosure, and management. Key feedback during rounds of usability testing emphasized the need for a supportive design, seamless workflow, and engaging experience of the tool. The tool was modified to reflect the feedback, and the GN achieved an average SUS score of 87.7 ± 10.9 (N = 28), indicating above-average usability. Future research will evaluate its clinical and cost-effectiveness in a randomized trial.