Meeting the challenges of rare disease in NHS newborn blood spot screening

The Alliance welcomes the establishment of the UK National Screening Committee’s (UK NSC) new Blood Spot Task Group (BSTG). There are many rare diseases that haven’t been yet been incorporated onto the newborn screening programme, such as SMA. The aim of this  group is to bring together rare disease experts to deepen the UK NSC’s understanding of what constitutes sufficient evidence to incorporate a disease onto the screening programme. We look forward to contributing to the debate about what is an appropriate level of evidence for screening in rare conditions, such as SMA, where the case is compelling and has been accepted across multiple countries across Europe and the world.