Guidelines and care pathways for genetic diseases: the Scottish collaborative project on tuberous sclerosis

Eur J Hum Genet. 1998 Sep-Oct;6(5):445-58. doi: 10.1038/sj.ejhg.5200208.


In Scotland a national audit project has been undertaken to devise evidence-based guidelines for the clinical management of patients with tuberous sclerosis (TS), a dominantly inherited multisystem disorder. In order to facilitate the audit and use of these guidelines a 'Care Pathway' was devised to form the patient records. We describe the process of guideline development for TS and our TS Care Pathway.

MeSH terms

  • Evidence-Based Medicine
  • Humans
  • Medical Audit
  • Practice Guidelines as Topic*
  • Scotland
  • Tuberous Sclerosis / genetics
  • Tuberous Sclerosis / physiopathology
  • Tuberous Sclerosis / therapy*