A primary care specialist genetics service: A cluster-randomised factorial trial

Abstract

Background: GPs do not have the confidence to identify patients at increased genetic risk. A specialist primary care clinical genetics service could support GPs with referral and provide local clinics for their patients. Aim: To test whether primary care genetic-led genetics education improves both non-cancer and cancer referral rates, and primary care-led genetics clinics improve the patient pathway. Design and setting: Cluster-randomised factorial trial in 73 general practices in the south of England. Method: Practices randomised to receive case scenario based seminar (intervention) or not (control), and referred patients a primary (intervention) or secondary (control) care genetic counsellor (GC)- led appointment. Outcome measures: GP referral and clinic attendance rates (primary), appropriate cancer and case scenario referral rates, patient satisfaction, clinic costs, and case management (secondary). Results: Eighty-nine and 68 referralsmade by 36 intervention and 37 control practices respectively. There was a trend towards an overall higher referral rate among educated GPs (referral rate ratio [RRR] 1.34, 95%confidence interval [CI] = 0.89 to 2.02;P = 0.161), and theymademore appropriate cancer referrals (RRR 2.36, 95%CI = 1.07 to 5.24;P = 0.035). No indication of difference in clinic attendance rates (odds ratio 0.91, 95%CI = 0.43 to 1.95;P = 0.802) or patient satisfaction (P = 0.189). Patients spent 49%less travelling (£3.60 versus £6.62; P<0.001) and took 33%less time (39.7 versus 57.7 minutes; P<0.001) to attend a primary than secondary care appointment; 83%of GC-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. ©British Journal of General Practice.