Newborn Screening for Rare Diseases Healthcare campaigns

People living with a muscle-wasting condition require timely diagnosis to access a wide range of health and social care services. Over recent years, the advancement of access to treatments and other health support has increased the importance of this.
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In October 2022, the All-Party Parliamentary Groups on Muscular Dystrophy, chaired by Mary Glindon MP, launched an inquiry into newborn screening for rare conditions and the evidence requirements for acceptance onto the newborn screening programme, with support from Muscular Dystrophy UK and the APPG on Rare Genetic and Undiagnosed Conditions, which is chaired by Liz Twist MP.

The focus of the inquiry was to gain a better understanding of the value of newborn screening to individuals with rare conditions and what an appropriate level of evidence should be to support the appropriate expansion of the list of conditions screened for in the programme. Although the inquiry took an interest in rare conditions in general, there was a specific focus on Spinal Muscular Atrophy, given the imminent review of this condition by the UK National Screening Committee (UK NSC).

The inquiry heard powerful evidence, views, and experiences from a variety of clinical experts, patient organisations, other stakeholders, as well as parents and guardians of children living with rare conditions. The process ran until January 2023.

To drive effective changes forward, the APPG published their inquiry report, Newborn Screening for Rare Diseases, in May 2023. The report categorises robust recommendations into three overarching themes:

  • The approach taken by UK NSC to assessing conditions for newborn screening needs to be expediated. Whilst it should be robust, there are ways in which it could be more pragmatic.
  • The criteria and evidence requirements for a condition to be accepted for newborn screening need to be reviewed so that they are fit for purpose for rare diseases.
  • A clear and transparent approach focused on stakeholder engagement is key.