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

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 referrals made 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 they made more 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.