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

European Journal of Human Genetics volume 33, pages 1188–1193 (2025)Cite this article

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A Correction to this article was published on 02 April 2026

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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.

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Fig. 1: Genetics Navigator flow.

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Data availability

The data that supports the results of this study are available from the corresponding author Y.B. upon request

Change history

  • 24 March 2026

    The original online version of this article was revised: In this article the author Daena Hirjikaka’s family name was incorrectly written as Hirijkaka.

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Acknowledgements

We would like to thank the research participants and clinicians who partnered on the development and testing of the Genetics Navigator. YB holds the Canada Research Chair in Genomics Health Services Research and Policy. RZH holds the Canada Research Chair in Genomics and Health Policy. WU holds the Canada Research Chair in Economic Evaluation and Technology Assessment in Child Health.

Funding

This study is supported by a CIHR Team Grant (PHT 178433). Yvonne Bombard is supported by the Canada Research Chair in Genomics Health Services and Policy. Wendy J. Ungar is supported by the Canada Research Chair in Economic Evaluation and Technology Assessment in Child Health. Anne-Marie Laberge is supported by a FRQS Senior Clinician-Scientist Salary Support Grant.

Author information

Authors and Affiliations

  1. Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael’s Hospital, Unity Health Toronto, Toronto, ON, Canada

    Saumeh Saeedi, Daena Hirjikaka, Marc Clausen, Emma Reble, Rita Kodida, Daniel Assamad, Yvonne Bombard, June C. Carroll & Irfan Dhalla

  2. Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON, Canada

    Stephanie Luca, Daniel Assamad, Robin Z. Hayeems & Wendy J. Ungar

  3. Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada

    Daniel Assamad, Robin Z. Hayeems, Yvonne Bombard, Quynh Pham, Emily Seto & Wendy J. Ungar

  4. Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada

    Lauren Chad, Gregory Costain, Ronald Cohn, Stacey Hewson, Rebekah Jobling & Eriskay Liston

  5. Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada

    Gregory Costain, Josh Silver, Stacey Hewson, Eriskay Liston & Cheryl Shuman

  6. Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Sinai Health System, Toronto, ON, Canada

    Hanna Faghfoury, Josh Silver & Melyssa Aronson

  7. Genetics Navigator Advisory Board, Toronto, ON, Canada

    Serena Shastri-Estrada

  8. Department of Occupational Science and Occupational Therapy, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada

    Serena Shastri-Estrada

  9. Patient Partner, Canadian Organization for Rare Disorders, Toronto, ON, Canada

    Maureen Smith

  10. Zane Cohen Centre for Digestive Diseases, Sinai Health, Toronto, ON, Canada

    Melyssa Aronson

  11. Department of Medical Genetics, Alberta Children’s Hospital, Calgary, AB, Canada

    Francois Bernier

  12. HPC4Health Consortium, Toronto, ON, Canada

    Michael Brudno

  13. Lunefelt-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada

    June C. Carroll & Jordan Lerner-Ellis

  14. Care Experience Institute, Unity Health Toronto, Toronto, ON, Canada

    Irfan Dhalla

  15. Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada

    Jan Friedman

  16. Department of Pediatrics, University of Toronto, Toronto, ON, Canada

    Trevor Jamieson

  17. Department of Bioethics, The Hospital for Sick Children, Toronto, ON, Canada

    Trevor Jamieson

  18. Department of Medical Genetics. Le Centre Hospitalier Universitaire, Sainte-Justine, Montreal, QC, Canada

    Anne-Marie Laberge

  19. Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada

    Jordan Lerner-Ellis & Christian Marshall

  20. Department of Data Science and Advanced Analytics, Li Ka Shing Knowledge Institute, St. Michael’s Hospital, Unity Health Toronto, Toronto, ON, Canada

    Muhammad Mamdani

  21. Division of genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada

    Christian Marshall

  22. Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada

    Matthew Osmond

  23. Centre for Global eHealth Innovation University Health Network, Toronto, ON, Canada

    Quynh Pham & Emily Seto

  24. Vector Institute for Artificial Intelligence, Toronto, ON, Canada

    Frank Rudzicz

  25. Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada

    Kevin Thorpe

Authors
  1. Saumeh Saeedi
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  2. Daena Hirjikaka
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  3. Marc Clausen
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  4. Stephanie Luca
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  5. Emma Reble
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  6. Rita Kodida
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  7. Daniel Assamad
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  8. Lauren Chad
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  9. Gregory Costain
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  10. Hanna Faghfoury
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  11. Josh Silver
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  12. Serena Shastri-Estrada
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  13. Maureen Smith
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  14. Robin Z. Hayeems
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  15. Yvonne Bombard
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Consortia

The Genetics Navigator Study Team

  • Yvonne Bombard
  • , Robin Z. Hayeems
  • , Melyssa Aronson
  • , Daniel Assamad
  • , Francois Bernier
  • , Michael Brudno
  • , June C. Carroll
  • , Lauren Chad
  • , Marc Clausen
  • , Ronald Cohn
  • , Gregory Costain
  • , Irfan Dhalla
  • , Hanna Faghfoury
  • , Jan Friedman
  • , Stacey Hewson
  • , Trevor Jamieson
  • , Rebekah Jobling
  • , Rita Kodida
  • , Anne-Marie Laberge
  • , Jordan Lerner-Ellis
  • , Eriskay Liston
  • , Stephanie Luca
  • , Muhammad Mamdani
  • , Christian Marshall
  • , Matthew Osmond
  • , Quynh Pham
  • , Emma Reble
  • , Frank Rudzicz
  • , Emily Seto
  • , Serena Shastri-Estrada
  • , Cheryl Shuman
  • , Josh Silver
  • , Maureen Smith
  • , Kevin Thorpe
  •  & Wendy J. Ungar

Contributions

Conceptualization: YB, RZH, MC, HF, JS, GC, RK, ER, SL, Data Curation; MC, SL, ER, DA, RK. Formal Analysis: SS, DH, MC, SL, ER. Funding Acquisition: YB; Methodology: YB, MC, Project Administration: MC, SS, DH, ER, SL; Writing-original draft: SS, DH, MC, SL, ER, RZH, YB; Writing review and editing: SS, DH, MC, SL, ER, RK, DA, LC, GC, HF, JS, SSE, MS, RZH, YB.

Corresponding author

Correspondence to Yvonne Bombard.

Ethics declarations

Competing interests

YB and MC are founders and shareholders of the Genetics Adviser.

Ethics

The main study site was St. Michael’s Hospital in Toronto, Ontario. Ethics approval was obtained from the St. Michael’s Hospital Research Ethics Board. All participants provided written consent.

Additional information

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

The original online version of this article was revised: In this article the author Daena Hirjikaka’s family name was incorrectly written as Hirijkaka.

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Saeedi, S., Hirjikaka, D., Clausen, M. et al. The development and usability of ‘The Genetics Navigator’: a digital solution for adult and paediatric clinical genetics services. Eur J Hum Genet 33, 1188–1193 (2025). https://doi.org/10.1038/s41431-025-01871-4

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