Screening for metabolic disorders in a comprehensive children's hospital
Lawson, D.; Newman, R.L.; Stern, J.
Anglo-German Medical Review. Deutsch-Englische Medizinische Rundschau 6(3): 15-27
1972
ISSN/ISBN: 0003-3332 PMID: 4655635 Document Number: 5729
Queen Mary's Hospital for Children (736 beds) is situated in the South-West Metropolitan Region, one of four regions into which the Greater London area is divided for the provision of hospital services under the National Health Service. Queen Mary's Hospital and its associated units provide a service in paediatrics, paediatric surgery, child psychiatry and mental subnormality both for inpatients and outpatients, acute and long-stay. Children with metabolic disorders are a comparatively small group among our patients. However, it is in this group that physical or mental health is often irreparably harmed if the disease is not diagnosed early and treated promptly. Mass screening schemes for the early detection of metabolic diseases therefore appear to offer a promising approach in this field, but they give rise to a number of ethical and administrative as well as technical problems. These problems have been throroughly discussed by Wilson and Jungner (1968) and by McKeown (1968). While it is normally the patient who seeks medical advice because of his symptoms, in mass screening the initiative is taken by the doctor. If we are to investigate large numbers of symptomless, apparently healthy, infants we must be sure that: 1. the disorder looked for results if untreated in lasting physical or mental handicap; 2. our methods will detect the abnormality if present; 3. effective treatment can be given; 4. the screening procedures can be justified on economic grounds. Careful validation of test procedures is clearly mandatory. The children's hospital has an important role to play in confirming the diagnosis of cases detected by mass screening and by helping with follow up and treatment. The problems of screening for disease are largely economic and administrative. Once a suitable framework has been established it is comparatively easy to extend the range of disorders looked for, and to modify experimental techniques as required. Each community has to decide what proportion of the resources available for the health services can be spared for screening. As facilities for screening expand, more cases of inborn errors of metabolism will be detected. Effective treatment will, in time, be given to an increasing proportion of these, but even when no treatment is available we shall at least be able to offer a more reliable prognosis and more precise genetic advice to the parents of the affected child.
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