Expanded bloodspot screening

10 April 2014

In our response to the National Screening Committee consultation on expanded bloodspot screening, we examine their recommendations from a public health perspective.

We make the overall recommendation that the NSC should include all five conditions in the decision to expand newborn screening.

Recommendation

We recommend that the NSC should reconsider its decision to limit expansion of newborn screening and to include all five conditions. This would:

  • Signal its support for UK rare disease strategy by enhancing diagnostic pathways for these rare metabolic disorders
  • Improve the effectiveness and cost effectiveness of NHS diagnosis and treatment for rare inherited metabolic disorders
  • Contribute to increased international understanding of these conditions, including genetic heterogeneity and its link to phenotype including clinical presentation, biochemical profile and response to treatment.

And most importantly

  • Have a dramatic impact on the lives of a small number of patients and their families by preventing catastrophic consequences of acute metabolic crises, chronic multisystem damage and death.

Read the full response here

National Screening Committee