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Exploring individuals’ experiences with self-reported unmet need for genetic testing

European Journal of Human Genetics volume 33, pages 649–657 (2025)Cite this article

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Abstract

In practice, healthcare systems and insurers determine that there is “need” for genetic testing when there is potential for clinical utility. However, it is not currently known how the public understands the need for genetic testing and if this aligns with clinical utility. We recruited participants in Canada through a survey distributed through a market research company (Leger Opinion Panel). Participants who self-reported the need for genetic testing were then purposively sampled to complete a semi-structured virtual interview. We used an interpretive description approach and reflexive thematic analysis. We completed 19 interviews and found that participants’ self-identified need for genetic testing was informed by their experiences with genetic information and the perceptions that genetic information is actionable (clinical utility) and has personal meaning (personal utility). Most participants would not be eligible for funded testing based on their personal and family history, however, they had unmet informational and psychological needs, indicating unmet need for genetic counseling. The public understanding of the need for genetic testing is complex and varied. Participants identified many benefits resulting from genetic testing which are not reflected in how need is operationalized in reimbursement decisions, however unmet expectations for testing contributed to medical distrust and dissatisfaction.

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Fig. 1
Fig. 2: Overview of the conceptual model.

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The data from this study will not be made available to protect the confidentiality of the participants.

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Acknowledgements

The authors offer gratitude to the Coast Salish Peoples, including the xʷməθkwəy̓əm (Musqueam), Skwxwú7mesh (Squamish), and Səl̓ílwətaʔ/Selilwitulh (Tsleil-Waututh) Nations, on whose traditional, unceded and ancestral territory we have the privilege of working. The authors thank Kehna Yip for her feedback on earlier versions of the conceptual model figure.

Funding

Kennedy Borle was supported by a CIHR Banting and Best Doctoral Fellowship and received additional funding from the BCCHR Brain, Behavior, and Development Trainee award and the UBC Public Scholar Initiative to complete this research. JA was supported by BC Mental Health and Substance Use Services. The funders had no role in review or approval of the manuscript.

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Authors and Affiliations

  1. Interdisciplinary Studies Program, Faculty of Graduate and Postdoctoral Studies, University of British Columbia, Vancouver, BC, Canada

    Kennedy Borle

  2. Collaboration for Outcomes Research and Evaluation, Faculty of Pharmaceutical Sciences, University of British Columbia, Centre for Advancing Health Outcomes, Providence Health Research Institute, Vancouver, BC, Canada

    Larry D. Lynd

  3. Departments of Psychiatry & Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada

    Jehannine Austin

Authors
  1. Kennedy Borle
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  2. Larry D. Lynd
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  3. Jehannine Austin
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Contributions

Kennedy Borle: conceptualization, methodology, formal analysis, investigation, writing – original draft, writing – review & editing, project administration, funding acquisition. Larry Lynd: conceptualization, methodology, formal analysis, resources, writing – review & editing, supervision, project administration, funding acquisition. Jehannine (J9) Austin: conceptualization, methodology, formal analysis, resources, writing – review & editing, supervision, project administration, funding acquisition. All of the authors gave final approval of this version to be published and agree to be accountable for all aspects of the work.

Corresponding author

Correspondence to Jehannine Austin.

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Competing interests

Kennedy Borle, Jehannine (J9) Austin, and Larry Lynd declare that they have no conflicts of interest to disclose. JA is currently the Editor-in-Chief of the Journal of Genetic Counseling and President of the International Society of Psychiatric Genetics.

Ethics

Informed consent was obtained from all participants in this research study. This study was approved by the University of British Columbia Research Ethics Board (Certificate H22-10827).

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Borle, K., Lynd, L.D. & Austin, J. Exploring individuals’ experiences with self-reported unmet need for genetic testing. Eur J Hum Genet 33, 649–657 (2025). https://doi.org/10.1038/s41431-025-01838-5

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