How genomic information is accessed in clinical practice: an electronic survey of UK general practitioners

Abstract

Genomic technologies are having an increasing impact across medicine, including primary care. To enable their wider adoption and realize their potential, education of primary health-care practitioners will be required. To enable the development of such resources, understanding where GPs currently access genomic information is needed. One-hundred fifty-nine UK GPs completed the survey in response to an open invitation, between September 2017 and September 2018. Questions were in response to 4 clinical genomic scenarios, with further questions exploring resources used for rare disease patients, direct-to-consumer genetic testing and collecting a family history. Respondents were most commonly GP principals (independent GPs who own their clinic) (64.8%), aged 35-49 years (54%), worked as a GP for more than 15 years (44%) and practiced within suburban locations (typically wealthier) (50.3%). The most popular 'just in time' education source for all clinical genomic scenarios were online primary care focussed resources with general Internet search engines also popular. For genomic continuous medical education, over 70% of respondents preferred online learning. Considering specific scenarios, local guidelines were a popular resource for the familial breast cancer scenario. A large proportion (41%) had not heard of Genomics England's 100,000 genome project. Few respondents (4%) would access rare disease specific Internet resources (Orphanet, OMIM). Twenty-five percent of respondents were unsure how to respond to a direct-to-consumer commercial genetic test query, with 41% forwarding such queries to local genetic services. GPs require concise, relevant, primary care focussed resources in trusted and familiar online repositories of information. Inadequate genetic education of GPs could increase burden on local genetic services.

Pharmacogenomic Testing to Support Prescribing in Primary Care: a Structured Review of Implementation Models

“…Some barriers to the integration of genetics services into primary care are present in the context of PGx implemenation including lack of knowledge and guidelines [ 47 ]. Point-of-care tools could raise awareness, provide education and address other barriers; guideline and protocol development has been identified as a prerequisite on which awareness and effective education can be built [ 44 , 47 ]. Provider education was identified as an on-going need and is likely to be most successful in a variety of formats including face-to-face ‘in-services’, case studies and on-line training [ 23 ].…”

“…Continuing medical education (CME) courses on genetics and PGx are an effective way to introduce new applications and even increase personal interest, yet practitioner education was identified as a challenge with only a small number of practitioners attending educational sessions which were a requirement for participation; UK GPs favor shorter length sessions accessed on-line [20,[42][43][44]. 'Comprehensive' community pharmacist training was regarded as essential; seminar attendance and study involvement of practitioners led to increased confidence offering, interpreting and utilizing PGx testing, but did not translate into a subsequent increase in the number of PGx tests undertaken [20,27,29].…”

An online compendium of treatable genetic disorders

“…Recognizing this trend, efforts are underway to make the results of these diagnostic tests understandable to non‐specialists (Recchia, Chiappi, Chandratillake, Raymond, & Freeman, 2020). When faced with a genetic question in practice, physicians turn to the internet to acquire “just‐in‐time” information (Evans, Tranter, Rafi, Hayward, & Qureshi, 2020). In response, excellent online tools have been developed to aid in the diagnosis of rare disorders and evaluate the variants found in molecular laboratory reports (Reches, Weiss, Bazak, Feldman, & Maya, 2019).…”

Opportunities for education and learning in primary care genomics

“…GPs access information when they perceive it to be relevant, usually at the time of a particular clinical problem, meaning that learning is prompted by experience and is problem-centred. Therefore GPs’ prefer to access information regarding genomics ‘just in time’ or as a reactive learning exercise, as opposed to attending educational events ‘just in case’ or being proactive about what they may need to know (Evans et al., 2020; Mathers et al., 2010). In addition, a lack of point-of-care educational tools has been identified in the past as a barrier to primary care engagement with genetics (Mikat-Stevens et al., 2015).…”

“…If GPs tend to access information regarding genetics issues when they present, i.e. at point-of-care, this leads logically to the question ‘how do GPs access information within the consultation?’; a question answered by Evans et al. (2020).…”