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Widening the lens of actionability: A qualitative study of primary care providers’ views and experiences of managing secondary genomic findings

European Journal of Human Genetics volume 30, pages 595–603 (2022)Cite this article

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Abstract

Most secondary genomic findings (SFs) fall in the scope of primary care practice. However, primary care providers' (PCPs) capacity to manage these findings is not well understood. We explored PCPs’ views and experiences of managing SFs through a qualitative study. PCPs participated in semi-structured interviews about SFs from a patient in their practice or a hypothetical patient. The interpretive descriptive methodology was used to analyze transcripts thematically through constant comparison. Fifteen family physicians from Ontario, Canada participated (ten females; 6–40 years in practice across community and academic settings). PCPs made sense of SFs through the lens of actionability: they actively looked for clinical relevance by considering a wide range of immediate and future actions, including referrals, genetic testing, screening, lifestyle changes, counseling about family planning, informing family members, future medication choice, increased vigilance/surveillance, and managing results in the electronic medical record. PCPs saw clinical actionability as the main benefit mitigating the potential harms of learning SFs, namely patient anxiety and unnecessary investigations. PCPs conceptualized actionability more broadly than it is traditionally defined in medical genetics. Further research will be needed to determine if PCPs’ emphasis on actionability conflicts with patients’ expectations of SFs and if it leads to overutilization of healthcare resources.

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Fig. 1: Interpretive description of PCP management of secondary findings (SFs) from genomic sequencing.

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Acknowledgements

We would like to thank Dr. Ross Upshur and Dr. Holly Etchegary for their insight and feedback with respect to this study.

Funding

This project is partially funded by an Early Career Award from the Ontario Ministry of Research and Innovation (ER17-13-045). YB was supported by a Canadian Institutes of Health Research New Investigator Award and a Foundation Grant (FRN#143310). AS was supported by an Ontario Graduate Scholarship from the University of Toronto.

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Authors and Affiliations

  1. University of Toronto, Toronto, Canada

    Agnes Sebastian, June C. Carroll, Chloe Mighton, Salma Shickh, Melyssa Aronson, Jordan Lerner-Ellis & Yvonne Bombard

  2. Li Ka Shing Knowledge Institute, St. Michael’s Hospital, Toronto, Canada

    Agnes Sebastian, Marc Clausen, Rita Kodida, Emma Reble, Chloe Mighton, Salma Shickh & Yvonne Bombard

  3. Mount Sinai Hospital, Sinai Health, Toronto, Canada

    June C. Carroll, Melyssa Aronson, Christine Elser, Jordan Lerner-Ellis & Raymond H. Kim

  4. McMaster University, Hamilton, ON, Canada

    Meredith Vanstone

  5. Sunnybrook Hospital, Toronto, ON, Canada

    Andrea Eisen

  6. Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada

    Jordan Lerner-Ellis

  7. University Health Network, Toronto, ON, Canada

    Raymond H. Kim

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  1. Agnes Sebastian
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Correspondence to Yvonne Bombard.

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Sebastian, A., Carroll, J.C., Vanstone, M. et al. Widening the lens of actionability: A qualitative study of primary care providers’ views and experiences of managing secondary genomic findings. Eur J Hum Genet 30, 595–603 (2022). https://doi.org/10.1038/s41431-021-00876-z

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