How practice setting affects family physicians’ views on genetic screening: a qualitative study

Abstract

Background Genetic screening (GS), defined as the clinical testing of a population to identify asymptomatic individuals with the aim of providing those identified as high risk with prevention, early treatment, or reproductive options. Genetic screening (GS) improves patient outcomes and is accessible to the community. Family physicians (FPs) are ideally placed to offer GS. There is a need for FPs to adopt GS to address anticipated genetic specialist shortages. Objective To explore FP attitudes, perceived roles, motivators and barriers, towards GS; and explore similarities and differences between private and public sector FPs. Methods We developed a semi-structured interview guide using existing literature. We interviewed private and public sector FPs recruited by purposive, convenience and snowballing strategies, by telephone or video to theme saturation. All sessions were audio-recorded, transcribed and coded for themes by two independent researchers with an adjudicator. Results Thirty FPs were interviewed (15 private, 15 public). Theme saturation was reached for each group. A total of 12 themes (6 common, 3 from private-practice participants, 3 public-employed participants) emerged. Six common major themes emerged: personal lack of training and experience, roles and relevance of GS to family medicine, reluctance and resistance to adding GS to practice, FP motivations for adoption, patient factors as barrier, and potential solutions. Three themes (all facilitators) were unique to the private group: strong rapport with patients, high practice autonomy, and high patient literacy. Three themes (all barriers) were unique to the public group: lack of control, patients’ lower socioeconomic status, and rigid administrative infrastructure. Conclusion FPs are motivated to incorporate GS but need support for implementation. Policy-makers should consider the practice setting when introducing new screening functions. Strategies to change FP behaviours should be sensitive to their sense of autonomy, and the external factors (either as facilitators or as barriers) shaping FP practices in a given clinical setting.

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…”

“…For instance, while 70% of the 271 GPs surveyed considered taking family history as an integral role of general practice,56 another study comprising of 96 GPs found that a proportion of the GPs surveyed were sceptical if taking family history should be part of their practice due to difficulties to obtain an accurate family history 76. While genetic concepts are part of their general practice, two qualitative studies found that they are made distinct from genetic practice and thus, not identified as core component of their practice 3 66. As illustrated by Mathers et al , although GPs may appear to be more willing to document family history, the routine use of family history for general disease management was distinguished from those for genetic conceptualisation.…”

“…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.…”

“…40 Sixty-four GPs surveyed in a separate study also expressed concerns on giving patients a false sense of security or inducing unnecessary anxiety over genetic results. 62 Moreover, resistance to adopt genetic testing was also exacerbated by organisational barriers such as rigid administration infrastructure, 66 lack of clinical guidelines on genetic practice 43 52 53 and limited access to labs that perform PGx testing. 84 Additional resources could also incur more cost that could overburden the healthcare system.…”