Question to the Department of Health and Social Care:

To ask the Secretary of State for Health and Social Care, what meetings or engagements Ministers or senior officials from his department have had with any of the following patient organisations to discuss newborn screening: (a) Genetic Alliance UK (b) UK LSD Collaborative (c) UK Newborn Screening Collaborative (d) ArchAngel MLD Trust (e) MPS Society (f) MLD Support Association UK (g) SMA UK (h) Immunodeficiency UK (i) Alex, The Leukodystrophy Charity (j) Metabolic Support UK, since July 2024.

The Government remains committed to improving the lives of people living with rare diseases through the UK Rare Diseases Framework, which includes faster diagnosis as one of its four priorities.

In all aspects of population and targeted screening, ministers are advised by the UK National Screening Committee (UK NSC). When assessing the case for newborn screening for rare diseases, as with all other diseases and conditions, the UK NSC uses internationally recognised criteria and a rigorous evidence review and consultation process. It is only where the UK NSC is confident that the offer to screen provides more good than harm that a screening programme is recommended. When the UK NSC makes a screening recommendation, ministers are then asked to consider and make a decision on whether to accept the recommendation.

This year, the UK NSC secretariat carried out a review of the committee’s stakeholder engagement strategy and activities. The review included an online survey and three focused stakeholder discussion groups that were attended by a total of 17 external stakeholders, including seven representatives of patient organisations representing rare diseases affecting newborns. The UK NSC stakeholder strategy is being updated to incorporate their valuable feedback and is expected to be published in early 2026.

Although the Department screening team supporting the UK NSC has limited capacity to meet with individual stakeholders, they actively involve and engage with stakeholders and partners in other ways. For example:

• a representative of Genetic Alliance UK sits on the UK NSC Blood Spot Task Group;
• the CEO of SMA UK is on the SMA Partnership Board;
• a representative from Immunodeficiency UK is on the Severe Combined Immunodeficiency In Service Evaluation board; and
• the following organisations all contributed to the metachromatic leukodystrophy (MLD) screening consultation earlier this year: ArchAngel MLD Trust; MPS Society; MLD Support UK; LSD Collaborative; Alex, The Leukodystrophy Charity; and the UK Newborn Screening Laboratory Network.

The Department screening team meets regularly with the Department’s rare diseases team to discuss overlapping areas of work. The rare diseases team have working relationships with the wider rare diseases community and junior officials have met with Genetic Alliance UK.