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We need NBS for far more rare genetic conditions

We need NBS for far more rare genetic conditions

The SMA Spotlight: A Lesson for the UK

SMA has received much media attention and has been making waves in the political landscape. We’ve seen heartbreaking and hopeful stories of delayed access to life-changing gene therapies. While the spotlight on SMA is vital, it serves as a glaring example of a systemic failure: we are reacting to crises rather than preventing them.

The current spotlight must be a catalyst for the UK to realise that SMA is just the tip of the iceberg. There are hundreds of other treatable rare conditions, like MLD (Metachromatic Leukodystrophy ) or ALD (Adrenoleukodystrophy), where early detection is the difference between a healthy life and a devastating terminal prognosis.

Why the NSC System is No Longer Fit for Purpose

The National Screening Committee (NSC) is the gatekeeper of the heel prick test. However, as highlighted in the Genetic Alliance report, Newborn Screening for Rare Diseases (see below, the current criteria used to evaluate new tests are outdated.

“The current system is built for common conditions and fails to account for the unique evidence base of rare diseases.” 

The Problems with the Current System:

  1. The Effective Treatment Trap: The NSC often requires proof of a treatment’s effectiveness in a UK setting before screening is approved. But without screening, you can’t identify the pre-symptomatic babies needed to prove the treatment works. It’s a deadly Catch-22.
  2. Lack of Agility: While countries like the USA and Italy screen for over 40 conditions, the UK screens for just ten. Our rigid adherence to traditional evidence models is causing us to fall behind internationally.
  3. Inflexible Evidence Models: Rare diseases don’t have the luxury of large-scale clinical trials. The NSC needs to adopt a more pragmatic approach that weighs the cost of inaction against the rigor of data.
Rare Disease Day 2026 was a reminder that equity isn’t a luxury, it’s a necessity. We must reform our screening systems to ensure that no child’s future is determined by how ‘rare’ their condition is perceived to be.

Genetic Alliance UK’s July 2025 policy report on newborn screening for genetic and rare conditions

Expanding population screening for genetic and rare conditions is a key part of Genetic Alliance’s five-year strategy. While many countries now screen for over 20 conditions, only nine conditions are included in the UK’s NHS Newborn Blood Spot Screening Programme. There is growing consensus from across the rare community and Genetic Alliance UK’s broader network of stakeholders that this needs to change.

The report explores how the UK National Screening Committee (UK NSC) can accelerate its approach to decision-making for expanding newborn screening, drawing on research findings from 14 countries to identify practical, evidence-informed steps for improving the way decisions are made in the UK. It also considers the role of genomic newborn screening.

The report calls on governments and health system leaders to:

  • adopt a pragmatic approach to evaluating evidence for genetic and rare conditions
  • strengthen the involvement of patient organisations in decision-making
  • ensure greater transparency in decision-making
  • introduce more agile review processes to promote readiness for new screening technologies, including whole genome sequencing
  • commit to a long-term plan for broader health systems innovation, including readiness for new therapies.

Read the report >