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New report published on newborn screening for rare conditions

22 May 2023

Muscular Dystrophy UK and the All-Party Parliamentary Group for Muscular Dystrophy publish a new report on newborn screening for rare conditions.

Newborn babies in the UK are currently screened for nine – soon to be ten – rare, but serious, conditions. Newborn blood spot screening (also known as the heel-prick test) is vital for early diagnosis of these conditions. However, the UK screens for fewer rare conditions in newborn babies than other countries in Europe and the US.  

With advances in more recent years in accessing treatments and other health and care support for some rare conditions, the importance of early diagnosis via newborn screening has become increasingly critical. Despite this, some of these conditions are still not tested for as part of newborn screening in the UK – including spinal muscular atrophy (SMA), for which there are available treatments that are shown to have more benefit if accessed prior to symptoms starting.  

For a condition to be included for newborn screening, it must first be assessed by the UK National Screening Committee (the UK NSC), and there must be evidence that it meets a certain UK NSC criteria. Many conditions that could be added are so rare that there is less information available compared to more common conditions. This means the assessment process can take a long time, and that there still may not be sufficient evidence to meet the assessment criteria.  

The newly published report is based on findings from an inquiry into newborn screening for rare conditions by the All-Party Parliamentary Group for Muscular Dystrophy, chaired by Mary Glindon MP, with support from Muscular Dystrophy UK and the APPG for Rare, Genetic and Undiagnosed Conditions, chaired by Liz Twist MP.

The inquiry heard powerful testimonies about the importance of newborn screening from the parents of children living with rare conditions, patient organisations, clinicians, and other stakeholders. Inquiry participants made recommendations for changes to the current UK NSC approach to assessing rare conditions so that they can be included in the UK newborn screening programme.

Whilst the inquiry looked at newborn screening for rare conditions overall, there was a specific focus on spinal muscular atrophy (SMA), given the announcement in November 2022 by the UK NSC that it has started reviewing whether SMA should be a condition for which newborn babies are tested.  

MDUK works in partnership with SMA UK to manage the UK SMA Newborn Screening Alliance. We hope that by highlighting these recommendations to UK NSC and other key decision makers, we can find a way to move past the situation whereby we have a newborn screening assessment process that is not meeting the needs of people with rare conditions, and the UK can come move into line with other comparable countries when it comes to newborn screening. 

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