Newborn and childhood screening programmes: criteria, evidence, and current policy

TLDR

Screening systematically identifies at‑risk individuals among asymptomatic people to improve outcomes while balancing false positives and negatives, and is guided by criteria such as Wilson and Jungner. The National Screening Committee was created in 1996 to provide a systematic advisory body to the Minister of State for Health on screening matters. The abstract notes that separate health administrations exist.

Abstract

“The systematic application of a test or enquiry, to identify individuals at sufficient risk to benefit from further investigation or direct preventive action, amongst persons who have not sought medical attention on account of symptoms of that disorder” (Wald1) Screening is offered to apparently well individuals to identify those at high risk of a specific condition, for whom early treatment, more effective treatment, or information may be offered in order to improve health outcome or to provide opportunities for informed decision making. By definition, screening tests are not diagnostic tests and therefore cannot separate reliably those with a specific condition from those without. Hence, those with a negative screening result will include some affected individuals, usually referred to as “false negatives”, who may be falsely reassured by the screening result. Conversely, those with a positive screening result will include unaffected individuals, usually referred to as “false positives”, who may be worried unnecessarily or be exposed to the risks of subsequent diagnostic tests. Therefore the threshold for a positive test will be determined by balancing the goals of screening and the perceived disbenefits of missing affected individuals or falsely labelling healthy individuals.2 In the past screening tests have often been introduced as a result of the enthusiasm of one or more individuals without evidence of effectiveness or careful consideration of the wider implications of false reassurance or false labelling. In the UK, this has led to the refinement of the historic “Wilson and Jungner” criteria,3 so that all proposed screening programmes are assessed against specified criteria.4 To introduce a more systematic approach, the National Screening Committee (NSC) was established in 1996 with the remit that it should advise the Minister of State for Health on screening issues. Even though there are now separate health administrations, the …