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

Saumeh Saeedi·Daena Hirjikaka·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
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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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HumansAdultGenetic TestingChildGenetic CounselingGenetic ServicesFemaleMaleJournal Article

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Saumeh Saeedi, Daena Hirjikaka, 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. 2025-05-30. The development and usability of 'The Genetics Navigator': a digital solution for adult and paediatric clinical genetics services.. https://doi.org/10.1038/s41431-025-01871-4

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