A systematic review of the literature exploring the role of primary care in genetic services

Background. In response to growing demands on genetics departments and adva nces in genetic medicine, it has been proposed that primary care should pro vide a frontline service in clinical genetics. However, there are concerns that primary care may be unwilling or ill prepared to take on this new role . Objectives. This study aimed to review systematically the literature explor ing the role of primary care in delivering genetic services, and define pot ential methods of supporting primary care in the provision of genetics serv ices. Methods. Seven electronic databases were searched. This was complemented by contacting experts in the field and handsearching reference lists. In tota l, 230 papers were identified, including traditional reviews, of which 96 w ere examined in detail. Fifty-one papers are included in this review. On ac count of the heterogeneity of papers identified, we conducted a qualitative synthesis of the results, focusing on five key questions. Results. GPs accept that they have an increasing role to play in genetics, but lack confidence in their ability to do so because of limited knowledge of clinical genetics. Evidence from pilot studies of cystic fibrosis screen ing provides the strongest evidence for the feasibility of providing geneti c services in primary care. Conclusions. Although genetic issues currently constitute a relatively smal l part of the overall workload in primary care, this will almost certainly change in the light of new genetic discoveries. Educational programmes and referral guidelines, computer decision support and genetic nurse specialist outreach clinics may provide useful methods of supporting GPs in the new f ield of primary care genetics.