Evidence based medicine in practice: lessons from a Scottish clinical genetics project

Objective-To establish national clinical guidelines and integrated care pat hways for five conditions (tuberous sclerosis (TS), Huntington's disease (H D), myotonic dystrophy (MD), neurofibromatosis type 1 (NF1), and Marfan syn drome (MS)) and audit their use in Scotland. Design-Systematic review of published reports followed by consensus confere nces to prepare clinical guidelines and integrated care pathways. Structure d review of medical records before and after introduction of integrated car e pathways to document changes in practice. Survey of staff views on proced ures adopted. Setting-All four clinical genetics centres in Scotland. Results-Project resulted in reduced variation in practice across centres, i mproved data recording in medical records, and improved communication with other professional groups. A very poor evidence base for management of pati ents with the conditions studied was found. Conclusions A collaborative structure for undertaking clinical research wou ld improve the evidence base for current practice. National discussion of t he boundaries of responsibility of care for the long term management of pat ients with these disorders is required. The integrated care pathway approac h shows promise as a means of facilitating the development of audit within clinical genetics services.