APPG for Muscular Dystrophy Publishes Report on Newborn Screening for Rare Diseases
The All-Party Parliamentary Group (APPG) for Muscular Dystrophy has published a report on newborn screening for rare conditions. The report reflects on the UK National Screening Committee’s (UK NSC’s) desire to “deliver the ambition set out in the Rare Diseases Action Plan for England 2023 of ‘improving how decisions are made on newborn screening for rare conditions’” and explores how this might be achieved.
Based on a detailed survey, conversations with stakeholders and a roundtable, the team behind the report have worked hard to understand different perspectives on the way rare diseases are assessed for newborn screening and how the current approach might evolve. The APPG’s report recognises the transformative impact that newborn screening can have on the lives of individuals and their families.
The report contains a number of recommendations, set out under three themes:
1. The approach taken by the UK NSC to assessing conditions for newborn screening needs to be expedited. Whilst it should be robust, there are ways in which it could be more pragmatic.
2. 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.
3. A clear and transparent approach focused on stakeholder engagement is key.
Collaboration among healthcare professionals, policy-makers, patient advocacy groups, and researchers is vital for successfully implementing newborn screening programmes for rare diseases.
For SMA, where the UK NSC’s newborn screening assessment is now underway, the Alliance has noted a more open approach to working with stakeholders than has been reported previously. We appreciate the efforts that are being made to keep us informed and to listen to the concerns and queries raised by members of the Alliance and the wider SMA community.
UK NSC members have recognised “the need for speed” and the Alliance emphasises at every opportunity that each five-day delay means that another baby with SMA will have been diagnosed after symptom onset and denied the chance of a healthier future.
There remains a lot more to be done and we hope that while we work collaboratively to minimise delays to the review of SMA, we can also shape a more progressive approach to newborn screening assessment for the rare conditions that follow.