Newborn blood spot screening conference June 2008

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Newborn blood spot screening conference June 2008

In June, the Programme Centre held a very successful two day conference to discuss whether the existing panel of conditions screened for should be extended. Speakers from The Netherlands, the USA, Australia and Germany outlined the conditions they currently screened for and in describing how they arrived at their decisions allowed the meeting to consider what lessons the UK may draw in thinking the issues through for our own context. The conference also heard from UK practitioners in the laboratory and clinical fields of endocrine and metabolic disorders on candidate conditions and tests. It debated how best to influence a research proposal to look at the benefits and hazards of extending the use of the tandem mass spectrometer to test for a wider range of conditions.

The meeting was told how mass spectrometry could be used for screening for an increasing number of diseases, including sickle cell disease in the newborn. Not only does it increase potential, but it can be 'focussed' carefully to only pick up particular proteins, thus avoiding the detection of conditions of unknown significance. Preliminary findings suggest this may be particularly useful in screening for sickle cell disease, where current methods identify a number of haemoglobin variants of unknown clinical significance. 

The meeting considered whether the existing UK NSC criteria were fit for purpose when considering very rare disorders.

The meeting agreed:

That the criteria were fit for purpose but that they should be used with appropriate judgement when cast iron evidence was very unlikely to be possible (e.g. these conditions are so rare that RCTs of treatment will never be powerful enough to provide answers).

To use a combination of expert clinicians, blood spot advisory group (BSAG) and fetal, maternal and child health (FMCH) committee members to look at a series of conditions against the UK NSC criteria and decide whether the proposed research study would address any, as yet, unanswered questions. Suggested conditions are:

• Maple syrup urine disease
• Isovaleric acidaemia
• Glutaric aciduria type 1
• Tyrosinaemia
• Homocysteinuira
• Congential adrenal hyperplasia
• Biliary atresia and Pompe's disease

To request that BSAG examine the cross newborn bloodspot programme issues that arise from potential changes ot the programme including:

• Information to parents
• Clinical metabolic and endocrine clinical services
• The quality of the samples
• What effect bringing the bloodspot sampling forward in the child's life would have across the programmes?
• IT
• Envelopes and bloodspot cards
• Who informs the parents of positive or carrier results?
• Long term collection of information on the child to inform future case definition, care etc

For BSAG members to work with the Principal Investigator to ensure that a successful bid to the NIHR, due to start at the end of this calendar year, informs the UK NSC deliberations.