USEFUL LINKS & PUBLICATIONS
Here, you’ll find useful publications for advocates. If you have any queries regarding any of the items below, or the subject of newborn screening more broadly, please don't hesitate to reach out to us.
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MLD Newborn Screening Consultation 2025 [infographic PDF]
In May 2025, the National Screening Committee (NSC) launched a consultation on evidence for including Metachromatic Leukodystrophy (MLD) in newborn screening. More details are available at: https://view-health-screening-recommendations.service.gov.uk/metachromatic-leukodystrophy/.
We are deeply disappointed by the NSC's recommendation against adding MLD to the UK heel prick test, citing insufficient evidence. We strongly encourage our supporters to respond to this consultation. Full details can be found at: MLD NBS Consultation 2025.
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Genetic Alliance Report on Newborn Screening Decision-Making [infographic PDF]
Genetic Alliance has published an insightful report exploring how the UK National Screening Committee (UK NSC) can accelerate its decision-making process for expanding newborn screening (NBS). The report draws on research from 14 countries to provide valuable insights. We hope this will advance discussions with government and health leaders to improve NBS policies.
A special thanks to ArchAngel Director of Newborn Screening, Pat Roberts, for serving as Project Advisor on behalf of the UK Newborn Screening Collaborative.Read the full report here: Time to Decide: Learning from International Approaches to Newborn Screening Decision-Making
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Helvet Health in partnership with ArchAngel MLD Trust and Orchard Therapeutics - The case for expanding newborn screening in the UK [infographic PDF]
"...newborn screening for rare genetic conditions can be a relatively inexpensive and
straightforward procedure. However, in many countries such as the UK:
1. Many eligible, treatable diseases remain unscreened
2. Adoption is delayed, even when there is demonstrated benefit and cost-effectiveness..."
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EURORDIS - The opinion of people living with a rare disease on newborn screening
"...early diagnosis is key for people living with a rare disease as it allows families to plan for their child’s care and treatment, to prevent severe disabilities from developing, and even to save lives. Access to early diagnosis can be improved through newborn screening, which is the process of systematically testing newborns just after birth and making sure that they can receive appropriate care and follow-up. While there are still discrepancies in newborn screening programmes across Europe, the concept of newborn screening is widely accepted among the rare disease community: a previous Rare Barometer survey showed that 95% of people living with a rare disease were in favour of performing tests to diagnose rare diseases at birth..."
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Springer Link - The burden of disease in metachromatic leukodystrophy: results of a caregiver survey in the UK and Republic of Ireland
"...Metachromatic Leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disease characterised by the progressive loss of motor function and severe decline in cognitive function. Limited information is available on the burden MLD places on patients and their families and the medical and social support these patients need. Three UK-based MLD patient organisations commissioned an online survey, and follow-up semi-structured interviews to describe and quantify these burdens across MLD subtypes, stage of disease (including end of life) and treatment status (untreated, gene therapy or hematopoietic stem cell transplant [HSCT])..."
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Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe
"...inherited metabolic disorders (IMDs) are mostly rare, have overlapping symptoms, and can be devastating and progressive. However, in many disorders, early intervention can improve long-term outcomes, and newborn screening (NBS) programmes can reduce caregiver stress in the journey to diagnosis and allow patients to receive early, and potentially pre-symptomatic, treatment. Across Europe there are vast discrepancies in the number of IMDs that are screened for and there is an imminent opportunity to accelerate the expansion of evidence-based screening programmes and reduce the disparities in screening programmes across Europe. A comprehensive list of IMDs was created for analysis...."
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A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes
"...newborn screening (NBS) programmes are essential in the diagnosis of inherited metabolic diseases (IMDs) and for access to disease modifying treatment. Most European countries follow the World Health Organisation (WHO) criteria to determine which disorders are appropriate for screening at birth; however, these criteria are interpreted and implemented by individual countries differently, creating disparities. Advances in research and diagnostics, together with the promise of new treatments, offer new possibilities to accelerate the expansion of evidence-based screening programmes. A novel and robust algorithm was built to objectively assess and prioritise IMDs for inclusion in NBS programmes..."