Abstract
Introduction: Preparing primary care providers 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 primary care providers’ 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 in September 2012. Results: Adjusted response rate was 26% (361/1,365), mean age was 51, and 53% were male. 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.
Highlights
Preparing primary care providers for genomic medicine (GM) first requires assessment of their educational needs in order to provide clear, purposeful direction and justify educational activities
Those who indicated they had continuing education in genetics in the past 5 years had significantly increased confidence in a number of GM skills. This lack of confidence has been shown in many studies spanning almost two decades (Suchard et al, 1999; Greendale and Pyeritz, 2001; Burke, 2004; McCahon et al, 2009; Carroll et al, 2011; Mainous et al, 2013; Rinke et al, 2014; Chambers et al, 2015) Fewer than 2/3 of participants in our study reported that evaluating or discussing genetic tests was part of their current practice. This is similar to a recent US study of Primary care providers (PCPs) where only 19% had ordered genetic testing, and 18% had consulted with a genetic counselor in the past 6 months, most frequently for cancer risk testing and prenatal testing. (Chambers et al, 2015) Many genetic tests are already in the primary care domain and with new advances in GM, it is likely more will be available to PCPs
Access to a genetics specialist has been positively associated with use of genetic testing for disease diagnosis or susceptibility, many PCPs report they do not have access to genetics expertise. (Haga et al, 2013) It may be as Haga postulates that "access for some PCPs may be effectively limited if they are unfamiliar with these experts or have not had any clinical occasion to consult them." Perhaps there is a role for counseling by phone, telemedicine or electronic consultation to enhance communication and contact. (Haga et al, 2013) As a result of this study, we developed a website containing evidence-based resources, including point-ofcare tools, on GM for PCPs with clear information about how to access local genetic services
Summary
Preparing primary care providers for genomic medicine (GM) first requires assessment of their educational needs in order to provide clear, purposeful direction and justify educational activities. Recognizing that a disease might be hereditary, indications for genetics referral and benefits and limitations of genetic tests ranked highest in a study of educational needs for general practitioners by a heterogeneous panel of experts.(Houwink et al, 2012) Core competencies in GM for health professionals have been developed.(Skirton et al, 2010; Korf et al, 2014) There is agreement that strategies to enable the appropriate integration of GM into primary care require more than merely addressing a knowledge deficit, but must address attitudes and propose new systems of care to facilitate practice These proposed "roadmaps" include training and education and innovative systemic changes such as integration of genomic results into the electronic health record (EHR) with clinical decision support, and new models of delivering genetic services such as genetic counselors or nurses embedded in primary care clinics or made available through telephone helplines, etc. These proposed "roadmaps" include training and education and innovative systemic changes such as integration of genomic results into the electronic health record (EHR) with clinical decision support, and new models of delivering genetic services such as genetic counselors or nurses embedded in primary care clinics or made available through telephone helplines, etc. (Battista et al, 2012; Manolio et al, 2013; Houwink et al, 2013; David et al, 2015)
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