The existing programmes for phenylketonuria and congenital hypothyroidism should be continued, but consideration should be given to strengthening the organisation by the establishment of a national multidisciplinary forum to give guidance on performance criteria, organisational matters and monitor the impact of introducing new screens.
The Welsh scheme for Duchenne muscular dystrophy should be continued on a research basis and the findings used to inform decisions on introducing screening elsewhere.
Performance data should be collected from the current UK screening programmes for cystic fibrosis. Expansion of screening for this disease should be encouraged.
There appears to be a strong case for introducing tandem MS-based screening. Screening should be limited to clearly-defined diseases where specificity is known to be adequate and there are satisfactory confirmatory tests. Given the technical complexity of the method, the large number of diseases covered, and limited experience of applying tandem MS-based screening to UK populations, a 3-year pilot study is proposed as detailed in the main text of the report.