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Where is genetic medicine headed? Exploring the perspectives of Canadian genetic professionals on future trends using the Delphi method

European Journal of Human Genetics volume 30, pages 496–504 (2022)Cite this article

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Abstract

Driven by technological and scientific advances, the landscape of genetic medicine is rapidly changing, which complicates strategic planning and decision-making in this area. To address this uncertainty, we sought to understand genetic professionals’ opinions about the future of clinical genetic and genomic services in Canada. We used the Delphi method to survey Canadian genetic professionals about their perspectives on whether scenarios about changes in service delivery and the use of genomic testing would be broadly implemented in their jurisdiction by 2030. We conducted two survey rounds; the response rates were 32% (27/84) and 67% (18/27), respectively. The most likely scenario was the universal use of noninvasive prenatal screening. The least likely scenarios involved population-based genome-wide sequencing for unaffected individuals. Overall, the scenarios perceived as most likely were those that have existing evidence about their benefit and potential medical necessity, whereas scenarios were seen as unlikely if they involved emerging technologies. Participants expected that the need for genetic healthcare services would increase by 2030 owing to changes in clinical guidelines and increased use of genome-wide sequencing. This study highlights the uncertainty in the future of genetic and genomic service provision and contributes evidence that could be used to inform strategic planning in clinical genetics.

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Fig. 1: Participation flow chart with response rates.

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Data availability

All data generated through the study are reported in aggregate form within the manuscript. Respondent-level data will not be made available to protect the anonymity of respondents.

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Acknowledgements

The GenCOUNSEL Study is led by Alison M. Elliott, Jehannine Austin, Bartha Knoppers, and Larry D. Lynd with Project Manager Alivia Dey, and includes the following co-investigators: Shelin Adam, Nick Bansback, Patricia Birch, Lorne Clarke, Nick Dragojlovic, Jan Friedman, Debby Lambert, Daryl Pullman, Alice Virani, Wyeth Wasserman, and Ma’n Zawati.

Funding

GenCOUNSEL was funded through the Large Scale Applied Research Project (LSARP) Genome Canada competition with co-funding from Canadian Institute for Health Research (CIHR), Genome BC, Genome Quebec, Provincial Health Services Authority, BC Children’s Hospital Foundation, and BC Women’s Hospital Foundation.

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Author notes

  1. A list of members and their affiliations appears in the Supplementary Information.

Authors and Affiliations

  1. Collaboration for Outcomes Research and Evaluation, Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada

    Kennedy Borle, Nicola Kopac, Nick Dragojlovic, Elisabet Rodriguez Llorian & Larry D. Lynd

  2. Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada

    Jan M. Friedman & Alison M. Elliott

  3. BC Children’s Hospital Research Institute, Vancouver, BC, Canada

    Jan M. Friedman & Alison M. Elliott

  4. BC Women’s Hospital Research Institute, Vancouver, BC, Canada

    Alison M. Elliott

  5. Centre for Health Evaluation and Outcomes Sciences, Providence Health Research Institute, Vancouver, BC, Canada

    Larry D. Lynd

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  1. Kennedy Borle
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GenCOUNSEL Study

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Correspondence to Larry D. Lynd.

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The authors declare no competing interests.

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This study was approved by the University British Columbia Research Ethics Board as a sub-study of the GenCOUNSEL research project (REB ID: H19-00427).

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Borle, K., Kopac, N., Dragojlovic, N. et al. Where is genetic medicine headed? Exploring the perspectives of Canadian genetic professionals on future trends using the Delphi method. Eur J Hum Genet 30, 496–504 (2022). https://doi.org/10.1038/s41431-021-01017-2

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