title: Needs assessment and review of services for people with inherited metabolic disease in the United Kingdom.
abstract: Patients with inherited metabolic diseases need to be viewed as a specialist care group because of the range of expertise required for their diagnosis and management. In the UK, professional concerns have been expressed that existing services would struggle to meet needs resulting from new diagnostic and screening techniques, new treatments and increased survival. This needs assessment and service review was therefore undertaken at the request of the Joint Committee on Medical Genetics, guided by a national multidisciplinary stakeholder group. All 24 specialist centres identified in the UK provided evidence for the review. Approximately 10 000 patients are known to services and their annual number of referrals is increasing. Possible shortfalls in the number of patients attending specialist services were estimated for the UK as a whole by extrapolating the results from the region with the most comprehensive service and comparing this with known patient numbers. This analysis suggests that a further 5600 children and 3300 adults are not looked after by specialist services or have been lost to follow-up. The comprehensiveness of services was assessed using a new scoring system for clinical and organizational criteria. There are major regional disparities in the comprehensiveness of service provision across the country, with some regions having little or no specialist service. Unmet need will increase as a result of new diagnostic technologies, more effective treatments and new neonatal screening programmes; specialist services need to be developed and expanded to provide a comprehensive and more equitable service to the UK population.
authors.affiliation: Public Health Genetics Unit, Cambridge, UK.
authors.forename: Hilary
authors.initials: H
authors.lastname: Burton
authors.forename: Simon
authors.initials: S
authors.lastname: Sanderson
authors.forename: Graham
authors.initials: G
authors.lastname: Shortland
authors.forename: Philip
authors.initials: P
authors.lastname: Lee
mesh_terms: D000328:Adult; D002648:Child; D003695:Delivery of Health Care; D005069:Evaluation Studies as Topic; D030342:Genetic Diseases, Inborn / Q000453:epidemiology* / Q000628:therapy*; D006297:Health Services Accessibility; D006301:Health Services Needs and Demand; D006302:Health Services Research; D006801:Humans; D008659:Metabolic Diseases / Q000453:epidemiology* / Q000628:therapy*; D020380:Needs Assessment; D015397:Program Evaluation; D011787:Quality of Health Care; D011795:Surveys and Questionnaires; D006113:United Kingdom