Question to the Department of Health and Social Care:

To ask Her Majesty's Government what plans they have to improve (1) the newborn screening programme, and (2) the diagnosis and treatment of rare diseases.

The United Kingdom National Screening Committee (UK NSC) regularly reviews over 100 conditions, including some rare diseases, to ensure that we continue to offer a world class screening programme. In the Newborn Screening Programme, the UK NSC has recently reviewed Adrenoleukodystrophy and is in the process of reviewing 22q11.2 Deletion Syndrome to assess its suitability for a population-based screening programme. It is important that the addition of any new conditions to the newborn blood spot programme or any population screening programme, is supported by robust peer-reviewed evidence.

The UK Rare Diseases Framework provides the high-level direction for rare diseases including improving diagnosis rates. The Framework’s priorities will be implemented through nation-specific action plans which will outline the specific commitments from each UK nation.