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Progress on practical projects to support the UK NSC in making newborn blood spot screening recommendations

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The UK National Screening Committee (UK NSC) set up the blood spot task group (BSTG) to help identify practical and innovative approaches to the development and evaluation of evidence, and the facilitation of research, in newborn blood spot screening.

The group’s work will support the UK NSC in making robust screening recommendations within the constraints of limited evidence bases.

BSTG members have a wealth of experience from a range of disciplines and organisations, including public and patient voice (PPV) groups.

Today we have published a summary note of its latest meeting when members were updated on progress on 4 of its 5 core projects.

The meeting focused primarily on one of these projects:

  • describing how disease registries, data linkages and improved data coding could help provide evidence on rare disease outcomes and other metrics

Three speakers gave thought-provoking presentations on the challenges of getting good outcome data for conditions the UK already screens for – sickle cell and thalassaemia, congenital hypothyroidism, maple syrup urine disease, homocystinuria, isovaleric acidaemia and glutaric aciduria type 1.

The meeting also received updates on progress of 3 of its other core projects:

  • comparing EURORDIS key principles for newborn screening and UK decision making and implementation practices
  • providing practical recommendations for diagnostic accuracy studies for very rare and ultra-rare conditions for consideration in NBS screening
  • identifying challenges, opportunities and practical approaches when developing modelling for rare diseases

The next BSTG meeting is due to take place this summer and we will again publish a summary note of the discussions shortly afterwards. Watch this space.

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