General practitioners’ views on genomics, practice and education: A qualitative interview study

Abstract

2014-19. BT declares holding a part-time role in a commercial genomic testing subsidiary (Genome. One) of the Garvan Institute of Medical Research until July 2018. Outside of the submitted article, SM and KD received funding, through their work institutions, from The Royal Australian College of General Practitioners for the work they did as Co-Chair and Member, respectively, of the Advisory Group in the development of the clinical resource Genomics in general practice.

General practitioners’ (GPs) experience, attitudes and needs on clinical genetic services: a systematic review

“…Of the 62 final articles included, 36 studies were quantitative studies,27–62 13 were qualitative studies,3 63–74 9 were randomised controlled trials75–83 and 4 were mixed-methods study70 84–86 (online supplemental table 5). The selected studies were conducted in USA (n=20), UK (n=19), Canada (n=11), Australia (n=6), Asia (n=4), New Zealand (n=1) and South Africa (n=1).…”

“…Out of the 22 studies that reviewed GP’s attitudes towards their role in genetic testing, 8 studies reported that GPs felt responsible to perform genetic tasks such as taking family history to identify genetic condition,51 assisting or counselling patients on genetic testing and results,32 61 65 referring patients to specialists for advice and follow-up care,51 69 and to warn families about risks in the family 53. GPs also found themselves to be well positioned to offer genetic screening such as population-based expanded carrier screening couple test,66 85 and in the early detection of familial hypercholesterolaemia (FH) 54…”

“…GP’s uncertainty over their role in genetic testing was compounded by their lack of confidence and knowledge on genetic testing. Out of the 34 studies that reviewed GP’s knowledge and experience towards genetic testing, 7 articles shed light on the limited experience and encounters with genetic testing43 44 63 65 or genomic cases 28 43 58. Of the 63 GPs surveyed, 77.8% had no experience with referring patients 36…”

“…Ten articles also highlighted GPs lack of confidence on their genetic knowledge,40 ability to conduct genetic screening,66 and to perform genetic tasks48 51 such as interpreting results62 65 84 and discussing benefits, risks, limitations and inheritance patterns 51 62 76. The study by Bernhardt et al , found that only 58% of the 481GPs surveyed were confident in interpreting genetic test results.…”

“…Of which, Yu et al reported that 91% of the 409 GPs surveyed saw the importance to keep up with latest information on genetic disorders. Specifically, GPs expressed the need for more guidelines and timely updates on the use of genetic screening, genetic testing, genetic counselling and referrals 34 39 63 65 70. In addition, clearer guidance that is tailored to their practice and roles as GPs were also coveted 51 64 65 69.…”