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Original Research ARTICLE Provisionally accepted The full-text will be published soon. Notify me

Front. Genet. | doi: 10.3389/fgene.2019.01189

Informing Integration of Genomic Medicine into Primary Care: An Assessment of Current Practice, Attitudes and Desired Resources

 June C. Carroll1*, Judith Allanson2, Shawna Morrison2, Fiona A. Miller1, Brenda J. Wilson3, Joanne A. Permaul4 and Deanna Telner1
  • 1University of Toronto, Canada
  • 2Children's Hospital of Eastern Ontario (CHEO), Canada
  • 3Memorial University of Newfoundland, Canada
  • 4Sinai Health System, Canada

Introduction: Preparing primary care providers (PCP) for genomic medicine (GM) first requires assessment of their educational needs in order to provide clear, purposeful direction and justify educational activities. More understanding is needed about PCPs’ perspectives on their role in newer areas of GM and what resources would be helpful in practice. Our objective was to determine family physicians’ (FP) current involvement and confidence in GM, attitudes regarding its clinical value, suggestions for integration of GM into practice and resources and education required.
Methods: A self-complete anonymous questionnaire was mailed to a random sample of 2,000 FPs in Ontario, Canada. Response rate was 26% (361/1,365), mean age 51, 53% male.
Results: FPs reported many aspects of traditional GM as part of current practice (eliciting family history: 93%; deciding who to refer to genetics: 94%; but few reported confidence (44%, 32% respectively). Newer areas of GM were not part of most FPs’ current practice and confidence was low (pharmacogenetics: 28% part of practice, 5% confident; direct-to-consumer genetic testing: 14%/2%; whole genome sequencing: 8%/2%). Attitudes were mixed with 59% agreeing that GM would improve patient health outcomes, 41% seeing benefits to genetic testing, but only 36% agreeing it was their responsibility to incorporate GM into practice. Few could identify useful sources of genetic information (22%) or find information about genetic tests (21%). Educational resources participants anticipated would be useful included contact information for local genetics clinics (89%), summaries of genetic disorders (86%) and genetic referral (85%) and testing (86%) criteria. About 58% were interested in learning about new genetic technologies. Most (76%) wanted to learn through in-person teaching (lectures, seminars etc.), 66% wanted contact with a local genetic counselor to answer questions and 59% were interested in a genetics education website.
Conclusion: FPs lack confidence in GM skills needed for practice, particularly in emerging areas of GM. They see their role as making appropriate referrals, are somewhat optimistic about the contribution GM may make to patient care, but express caution about its current clinical benefits. There is a need for evidence-based educational resources integrated into primary care and improved communication with genetic specialists.

Keywords: Primary Health Care, Genomics, Genetic Services, Health services needs, questionnaire

Received: 27 Jun 2019; Accepted: 28 Oct 2019.

Copyright: © 2019 Carroll, Allanson, Morrison, Miller, Wilson, Permaul and Telner. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Dr. June C. Carroll, University of Toronto, Toronto, Canada,