Guidelines for referral to a regional genetics service: GPs respond by referring more appropriate cases

Objectives. The aim of this study was to see whether guidelines on whom to refer to a regional genetics service could improve the appropriateness of referrals to the service, It also aimed to assess whether the genetic clinic assessment of risk agreed with that described in the GP letter. Methods. Referral guidelines were sent to all Oxfordshire GPs and the subsequent content of the referral letters was analysed. A retrospective assessment of referral letters sent during the 6 months before dissemination was also made. Results. The study showed that post-guidelines, fewer 'lower risk' referrals were made and that the description of the risk in the GP letter improved, so that a greater proportion of genetic clinic risks agreed with those described in the GP letter, Conclusion. The use of referral guidelines can help GPs to act as gatekeeper for referrals to secondary care.