Campbell H, Bradshaw N, Davidson R, Dean J, Goudie D, Holloway S, Porteous M
Department of Clinical Genetics, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK.
J Med Genet. 2000 Sep;37(9):684-91. doi: 10.1136/jmg.37.9.684.
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.
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.
All four clinical genetics centres in Scotland.
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.
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.
为结节性硬化症（TS）、亨廷顿病（HD）、强直性肌营养不良（MD）、1型神经纤维瘤病（NF1）和马凡综合征（MS）这五种病症制定国家临床指南和综合护理路径，并审核其在苏格兰的应用情况。
对已发表报告进行系统综述，随后召开共识会议以制定临床指南和综合护理路径。在引入综合护理路径前后对病历进行结构化审查，以记录实践中的变化。调查工作人员对所采用程序的看法。
苏格兰的所有四个临床遗传学中心。
该项目减少了各中心之间实践的差异，改善了病历中的数据记录，并改善了与其他专业团体的沟通。研究发现，在所研究病症患者的管理方面，证据基础非常薄弱。
开展临床研究的协作结构将改善当前实践的证据基础。需要就这些疾病患者长期管理的护理责任界限进行全国性讨论。综合护理路径方法有望成为促进临床遗传学服务中审核工作开展的一种手段。
