A cluster-randomised factorial trial of a primary care specialist genetics service

Background: General Practitioners (GPs) do not have the confidence to identify patients at increased genetic risk. A specialist primary care clinical genetics service could support GPs in referral and provide local clinics for their patients. Aim: Cluster-randomised factorial trial of a primary care clinical genetics service, education to improve referral rate and clinics to improve the patient pathway. Setting: 73 general practices in the South of England. Methods: Practices randomised to receive case scenario based seminar (intervention) or not (control), and referred patients a primary (intervention) or secondary (control) care genetic counsellor-led appointment. Outcome measures: GP referral and clinic attendance rates (primary), appropriate cancer and case scenario referral rates, patient satisfaction, clinic costs, case management (secondary). Results: 89 and 68 referrals made by 36 intervention and 37 control practices respectively. A trend towards an overall higher referral rate amongst educated GPs (referral rate ratio 1•34, 95% confidence interval, 0•89-2•02; P=0•161), they made more appropriate cancer referrals (referral rate ratio 2?36, 95% confidence interval 1•07-5•24; P=0•035). No indication of difference in clinic attendance rates (odds ratio 0•91, 95% CI 0•43-1•95; P=0•802) or patient satisfaction (P=0•189). Patients spent 49% less travelling (£3•60 versus £6•62; P=0•000) and took 33% less time (39•7 versus 57•7 minutes; P=0•000) to attend a primary than secondary care appointment. 83% of genetic counsellor managed appointments met the 18-week referral to treatment NHS target. Conclusion: An integrated primary care genetics service both supports GPs in appropriate cancer referral and provides care in the right place by the right person.