Primary care provider perspectives on using genomic sequencing in the care of healthy children


Genome sequencing (GS) studies involving healthy children can advance scientific knowledge of genetic variation. Little research has examined primary care providers’ views on using GS in this context. This study explored primary care provider perspectives on the use of GS in research and the care of healthy children. We conducted semi-structured interviews with 16 providers discussing their views on GS research and receiving results. Interviews were analyzed by thematic analysis and constant comparison. Participants were family physicians (11/16) and primary care pediatricians (5/16) in practice for >10 years (11/16). Participants valued GS in healthy children for research purposes; however, opinions diverged on using the results in primary care. Proponents valued using results for surveillance and prevention in healthy children. Skeptics questioned the clinical utility of results and the appropriateness of applying research data in primary care. Both groups shared concerns over opportunistic screening, validity, and interpretation of results, increased health system costs and inequities, and genetic discrimination. Primary care providers were ambivalent about the appropriateness and utility of GS in the care of healthy children. Providers feel unprepared and unsure of their obligations in disclosing these results. Providers do not feel they are equipped with the necessary resources and training to support their patients in using GS results in their care.

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We would like to thank the primary care providers that participated in our study for sharing their valuable time and insights with us.


The research presented in this paper was supported by the University of Toronto’s McLaughlin Centre. YB was supported by a New Investigator Award from the Canadian Institutes of Health Research (CIHR) during this study.

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Correspondence to Yvonne Bombard.

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Joshi, E., Mighton, C., Clausen, M. et al. Primary care provider perspectives on using genomic sequencing in the care of healthy children. Eur J Hum Genet 28, 551–557 (2020).

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