Thomason MJ, Lord J, Bain MD, Chalmers RA, Littlejohns P, Seymour CA, Addison GM, Wilcox AH; International Society of Technology Assessment in Health Care. Meeting.
Annu Meet Int Soc Technol Assess Health Care Int Soc Technol Assess Health Care Meet. 1997; 13: 55.
St. George's Hospital Medical School, London, United Kingdom.
Whole population well baby screening was first introduced for phenylketonuria (PKU) in the United Kingdom (UK) thirty years ago. Midwives collect heel prick blood samples on special filter paper cards and these blood spots are then tested at regional screening laboratories, at present generally only for PKU and congenital hypothyroidism. Since the original implementation of nationwide screening programmes there has been a massive increase in the number of inborn errors of metabolism identified, and technologies such as tandem mass spectrometry have been developed that offer the opportunity for robust and sensitive multi-disease screening. We have undertaken a systmatic review of neonatal screening for inborn errors of metabolism in order to develop a literature and information database, produce an objective summary of evidence on the cost-effectiveness of existing and putative neonatal screening programmes for inherited metabolic diseases, and make recommendations for the future development of the service. A formal systematic review of the literature was conducted, firstly with on-line (Medlars, Embase and ISI databases) and then with manual searches (of textbooks and conference proceedings) using key words. Organic reference searches were then undertaken by checking references cited in the publications thus identified. This process yielded around 1700 references to which first exclusion and then inclusion criteria were applied to produce a working database of 300 references. The papers in the working database were sub-divided by individual metabolic disease or closely associated groups of disorders, technologies or economic factors and reviewed by subject experts using a critical appraisal checklist. A questionnaire was sent to the directors of all screening laboratories in the UK. Site visits were made to laboratories both in the UK and the USA where tandem mass spectrometry was being applied or developed for neonatal screening and to Finland to assess the AutoDELFIA approach. All the UK screening laboratories currently screen for PKU. Some cases of homocystinuria, tyrosinaemia, maple syrup urine disease and galactosaemia are identified as a secondary feature of this screening, dependant upon the methodology employed. There were virtually no apparent plans to extend the screening programme apart from cystic fibrosis. Economic analysis shows good evidence that PKU screening is cost-effective and provides a positive net benefit to society. In fact, PKU screening alone justifies the collection of blood samples from neonates. Further analysis has provided evidence of those metabolic diseases for which screening may be considered justified according to the WHO criteria. For example, until there is an effective therapy for galactosaemia that prevents the long term development of neurological damage, there is not justification for the introduction of a neonatal screening programme specifically for galactosaemia in the UK or for its continuation elsewhere. In contrast, there is a growing body of evidence that shows that screening for congenital adrenal hyperplasia is cost-effective and justified and we suggest that a national programme for neonatal screening for this disease, with on-going evaluation, should be commenced. Of the emerging technologies, tandem mass spectrometry offers clear advantages for both PKU and multi-disease screening for inborn errors of metabolism. Preliminary cost analysis indicates that the introduction of this technology may be achieved with minimal increased costs per baby screened after initial commissioning costs. Considerably fewer and larger centres are required for full cost benefits to be achieved and we recommend introducing tandem mass spectrometry into the UK neonatal screening programme through selected and properly supported financial centres. There is a clear need for a national policy and for coordination of neonatal screening in the UK to maximse cost benefits to the community and to utilise the valuable clinical genetic resource offered by neonatal blood spots.
Publication Types:
Keywords:
- Adrenal Hyperplasia, Congenital
- Congenital Hypothyroidism
- Cost-Benefit Analysis
- Cystic Fibrosis
- Finland
- Galactosemias
- Great Britain
- Health Planning Guidelines
- Homocystinuria
- Humans
- Infant
- Infant, Newborn
- Maple Syrup Urine Disease
- Mass Screening
- Neonatal Screening
- Phenylketonurias
- Tyrosinemias
- United States
- economics
- hsrmtgs
Other ID:
UI: 102232992
From Meeting Abstracts