In May 2004 the Joint Committee on Medical Genetics commissioned this UK-wide needs assessment and service review for inherited metabolic disease. The work was supported with a grant from the Department of Health and was a major part of the Public Health Genetics Unit 2004/05 work programme. It was lead by Hilary Burton, Consultant in Public Health at the Public Health Genetics Unit, Cambridge and involved a stakeholder group of specialists in the inherited metabolic disease services, commissioners, and voluntary organisations.
Overview and recommendations
Effectiveness and quality
Review of laboratory services
Survey of inherited metabolic disease services
Services for patients with porphyria
Conclusion: quality revisited
The work is also supported by a slideshow. A set of powerpoint slides can be made available on request.
Please address all further requests for the document, use of slides and further questions to Dr Hilary Burton