Abstract
SummaryNewborn blood-spot screening to detect potentially treatable disorders is widely practiced across the globe. However, there are great variations in practice, both in terms of disorders covered, screening technologies, disease definition, information provision, parental informed consent, and storage and disposal of residual specimens, partly reflecting the degree to which screening is the subject of explicit legislation (and thus public and media pressure) or is embedded in a general health care system and managed at an executive level. It is generally accepted that disorders to be screened for should comply with the ten Wilson and Jungner criteria, but the way that compliance is assessed ranges from broadly-based opinion surveys to detailed analysis of quantitative data. Consequently, even countries with comparable levels of economic development and health care show large differences in the number of disorders screened for. There are several areas on which there are no generally accepted guidelines: how should parents be informed about screening and to what extent should they be encouraged to regard screening as an option to choose to refuse? Is DNA mutation analysis acceptable as part of a screening protocol? How soon should the blood samples be destroyed once screening has been completed? As technology advances and the potential scope of screening expands at both the metabolite and genome level, challenging policy issues will have to be faced.
Highlights
There are great variations in practice, both in terms of disorders covered, screening technologies, disease definition, information provision, parental informed consent, and storage and disposal of residual specimens, partly reflecting the degree to which screening is the subject of explicit legislation or is embedded in a general health care system and managed at an executive level
The scope of newborn screening has expanded greatly in the 52 years since Robert Guthrie published his microbial assay for phenylalanine and the use of dried blood spots in screening for phenylketonuria
Tandem-mass-spectrometry (MS-MS), with its ability to measure a wide range of metabolites simultaneously, has opened up a further range of disorders, many of which are very rare but can be incorporated with screening for phenylketonuria at little additional cost
Summary
The scope of newborn screening has expanded greatly in the 52 years since Robert Guthrie published his microbial assay for phenylalanine and the use of dried blood spots in screening for phenylketonuria. The approach in the USA has been quite different, with Federal policy based largely on the results of a survey carried out by the American College of Medical Genetics [6] This canvassed opinions (rather than data) from a wide range of professional and lay personnel in the USA and abroad and commissioned literature reviews on specific diseases from practicing academic clinicians. Screening policy is decided at State level and based on explicit legislation, with significant regional variations in both the number of disorders covered [1] and practices such as how long the blood collecting cards are retained after screening has finished [8]. In general policy-makers focus their attention on the value of newborn screening to the baby concerned and have mixed views about wider genetic implications
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