Rare Diseases
(asked on 10th April 2026) - View Source
Question to the Department of Health and Social Care:
To ask the Secretary of State for Health and Social Care, whether his Department uses international data when assessing evidence for rare diseases; and if he will make an assessment of the potential role of such data in relation to metachromatic leukodystrophy.
Last year, the 10-Year Health Plan was published following a national conversation to make the National Health Service work better for people.
We know that significant unmet need remains for people living with rare diseases, and in February this year we published the England Rare Diseases Action Plan 2026 to highlight how delivery of the 10-Year Health Plan will address challenges for people living with rare diseases. The England Rare Diseases Action Plan 2026 is available at the following link:
The Department invests over £1.7 billion each year on research through the National Institute for Health and Care Research (NIHR). This includes the NIHR funded RareCare study which aims to better understand what causes delays to diagnosis so we can take steps to address this. The research includes looking at how we can measure time to diagnosis for rare diseases which includes those that are covered by Newborn Blood Spot (NBS).
Another example of NIHR funded research is the evaluation of test accuracy studies in NBS screening and rare disease settings. This project aims to provide guidance on the evidence needed to evaluate the accuracy of NBS screening to ultimately improve the quality of the available evidence base to support better decision making about new or modified screening programmes.
For very rare conditions, it is difficult to generate robust evidence to demonstrate the value of screening, because so few babies are affected. The UK National Screening Committee (UK NSC), which advises the Government on all screening matters, is working with experts and partner organisations to look at how to make it easier to develop the evidence needed to make robust recommendations on the addition of more rare diseases to the NBS screening programme.
Information about how the UK NSC makes screening recommendations, and how stakeholders and members of the public can be involved, is available at the following link:
https://www.gov.uk/government/collections/uk-nsc-evidence-consultations-and-reviews
The UK NSC’s terms of reference are available online and can be found via the following link:
https://www.gov.uk/government/organisations/uk-national-screening-committee/about#terms-of-reference
These were last reviewed and updated in 2022. The terms of reference are set by the four United Kingdom health departments and are signed off by the four chief medical officers.
In the last few years, the UK NSC has recommended lung cancer screening, newborn screening for tyrosinaemia type 1, human papillomavirus self-sampling in under-screened women in the Cervical Screening Programme, research activity into rare diseases such as spinal muscular atrophy and severe combined immunodeficiency, the extension of intervals for diabetic eye screening, the use of DNA in the mother’s blood in the Fetal Anomaly Screening Programme, digital pathology in the cancer screening programmes, and extra tests for Edwards syndrome in pregnancy. It has also worked with partners to develop a very large trial on artificial intelligence in breast screening.
The UK NSC uses international published evidence from all across the world. Some countries or regions reportedly screen for a condition when it is only at the pilot or research stage. Some ‘screening programmes’ just test for a condition rather than being end-to-end quality-assured programmes that include diagnosis, treatment, and care. And screening in some countries is delivered regionally, or even just by individual hospitals, rather than nationally. They are therefore not directly comparable to the national screening programmes offered in the UK.
The UK NSC last reviewed screening for metachromatic leukodystrophy (MLD) in 2025. At the November 2025 UK NSC meeting, committee members concluded that there was not enough evidence to support newborn screening for MLD. However, members agreed that MLD would be a good candidate for inclusion in a multi-condition in-service evaluation (ISE) within the UK newborn blood spot screening programme, called EquipoISE. Full details of this review, including the evidence that was considered, are available at the following link:
https://view-health-screening-recommendations.service.gov.uk/metachromatic-leukodystrophy/
EquipoISE is a proposed rolling, multi-condition ISE embedded within the NHS NBS screening programme that would help the UK NSC make timely evidence-based recommendations on multiple rare conditions. EquipoISE would evaluate multiple conditions simultaneously, sharing a single research infrastructure. This would significantly reduce costs and setup time, rather than conducting expensive, one-off studies for each individual rare condition.
The UK NSC is using EquipoISE in its work with experts and partner organisations to look at how to make it easier to develop the evidence needed to make robust recommendations on the addition of more rare diseases to the NHS NBS screening programme.
UK NSC members and Department officials met with stakeholders, including ArchAngel MLD Trust, the MPS Society, MLD Support UK, and the Newborn Screening Collaborative, in February this year.