Recommendations for expanded newborn screening in the UK

6 June 2010

A new PHG Foundation report sets out evidence for using tandem mass spectrometry (MS/MS) to screen for an expanded range of inherited conditions in newborn babies. Newborn screening allows early diagnosis of rare but serious diseases, typically those where prompt medical intervention can prevent serious adverse outcomes.

The current UK newborn screening programme, first initiated in 1969, is relatively conservative in scope in comparison with that in some other countries, screening for phenylketonuria, congenital hypothyroidism, sickle-cell disorders (haemoglobinopathies), cystic fibrosis and Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD). This contrasts with the position in the US, where a core panel of 29 conditions is screening for across the country, with an additional 25 secondary conditions that may optionally be added (see previous news).
The addition of MCADD to the UK screening panel in 2007-8 (see previous news) involved the introduction of MS/MS technology, making it feasible to simultaneously test for additional conditions for little additional cost using the same technique and equipment. However, deciding whether new conditions should be screened for is not straightforward, since evaluating the clinical, economic and ethical issues is particularly difficult for very rare conditions for which little data is available (see previous news).
Recently, pressure to consider expansion of the current UK screening panel in the light of advances in not only diagnostic potential but also improved treatment options has been mounting from both clinicians and families of affected children.
The report Expanded newborn screening: A review of the evidence, funded by the National Institute of Health Research Collaboration for Leadership in Applied Health Research and Care - South Yorkshire (CLAHRC-SY), examines the evidence to support introduction of five additional rare inherited metabolic diseases (IMDs) considered to be strong candidates by experts in the field:
  • Maple Syrup Urine Disease (MSUD)
  • Homocystinuria
  • Glutaric Aciduria Type I (GA1)
  • Isovaleric Acidaemia (IVA)
  • Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHADD)

It concludes that there is potential to reduce death and severe disability caused by these conditions in a cost-effective manner, and proposes that a pilot study is required to more fully assess cost-effectiveness, quality standards and patient outcomes, taking into account issues such as the availability of appropriate specialist care for babies diagnosed with these IMDs and the need for resources to support patients and families. These findings were presented to the UK National Screening Committee earlier this year.

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