title: Evidence based medicine in practice: lessons from a Scottish clinical genetics project.
abstract: OBJECTIVE
  To establish national clinical guidelines and integrated care pathways for five conditions (tuberous sclerosis (TS), Huntington's disease (HD), myotonic dystrophy (MD), neurofibromatosis type 1 (NF1), and Marfan syndrome (MS)) and audit their use in Scotland.
  
  
  METHODS
  Systematic review of published reports followed by consensus conferences to prepare clinical guidelines and integrated care pathways. Structured review of medical records before and after introduction of integrated care pathways to document changes in practice. Survey of staff views on procedures adopted.
  
  
  METHODS
  All four clinical genetics centres in Scotland.
  
  
  RESULTS
  Project resulted in reduced variation in practice across centres, improved data recording in medical records, and improved communication with other professional groups. A very poor evidence base for management of patients with the conditions studied was found.
  
  
  CONCLUSIONS
  A collaborative structure for undertaking clinical research would improve the evidence base for current practice. National discussion of the boundaries of responsibility of care for the long term management of patients with these disorders is required. The integrated care pathway approach shows promise as a means of facilitating the development of audit within clinical genetics services.
authors.affiliation: Department of Clinical Genetics, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK.
authors.forename: H
authors.initials: H
authors.lastname: Campbell
authors.forename: N
authors.initials: N
authors.lastname: Bradshaw
authors.forename: R
authors.initials: R
authors.lastname: Davidson
authors.forename: J
authors.initials: J
authors.lastname: Dean
authors.forename: D
authors.initials: D
authors.lastname: Goudie
authors.forename: S
authors.initials: S
authors.lastname: Holloway
authors.forename: M
authors.initials: M
authors.lastname: Porteous
mesh_terms: D019317:Evidence-Based Medicine / Q000592:standards*; D006801:Humans; D006816:Huntington Disease / Q000235:genetics / Q000628:therapy; D008382:Marfan Syndrome / Q000235:genetics / Q000628:therapy; D008485:Medical Audit; D009223:Myotonic Dystrophy / Q000235:genetics / Q000628:therapy; D009456:Neurofibromatosis 1 / Q000235:genetics / Q000628:therapy; D017410:Practice Guidelines as Topic; D012196:Review Literature as Topic; D012606:Scotland; D014402:Tuberous Sclerosis / Q000235:genetics / Q000628:therapy