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Meeting the challenges of rare diseases in NHS newborn blood spot screening

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Every baby in England is offered newborn blood spot screening, also known as the heel prick test, ideally when they are 5 days old. The NHS screens babies for 9 conditions, including sickle cell disease and cystic fibrosis, plus some other rare conditions most families will likely never have heard of before.

Assessing the evidence on introducing new conditions in newborn blood spot screening is difficult because many of them are so rare. This means we do not have the same amount of information as we do for more common conditions.

The UK National Screening Committee (UK NSC) guides ministers to make decisions based on the evidence. But sometimes the UK NSC needs a bit of extra support to make sure it reaches recommendations based on the very best evidence.

New group with range of experience

For this reason, the UK NSC set up the Blood Spot Task Group (BSTG) to help identify practical and innovative approaches to research to inform its evaluations.

The group brings together a wide range of expertise in newborn screening, including paediatricians, academics (including researchers, methodologists, and health economists), ethicists, quality assurance (QA) professionals, geneticists, and patient and public voice representatives.

As the UK NSC makes UK-wide recommendations, government representatives of the 4 UK countries provide input to the group. Representatives of the recently formed Republic of Ireland National Screening Advisory Committee (NSAC) also contribute.

The BTSG aims to deepen its understanding by drawing on the huge experience and knowledge of all its members as it goes through its programme of work.

Wheels in motion

At the BSTG's first meeting, presentations were given on 3 priority projects for the BSTG.

  1. To look at the UK’s decision making and screening implementation practices and how these compare with the EURODIS key principles in newborn screening.
  2. To develop practical recommendations to help researchers address the challenges of finding good quality evidence about the accuracy of different tests.
  3. To develop a methodological paper on the challenges and potential solutions in economic models relating to newborn blood spot screening. Health economic models are mathematical methods used to predict the costs and health effects (or health outcomes) of one intervention compared to another, based on the best available evidence. Modelling is particularly important in newborn blood spot screening as a means of linking the available evidence from different sources to draw out conclusions about what screening might look like, given how rare some conditions are.

The group also discussed ways in which patient and parent experiences could be used earlier in the decision-making process.

Keep up to date

Hopefully this blog article has given you a flavour of work the new group will be getting involved in and we’ll be sure to keep you updated on progress. You can register to receive updates direct to your inbox whenever we publish a new article. If you have any questions about this blog article, or about the work of the UK NSC, please contact the UK NSC.

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