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No systematic review of evidence for recommending blood spot test

Reviews do not assess evidence on the benefits and harms of screening

Blood test
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Many national policy reviews of screening for rare conditions using the newborn blood spot test do not assess evidence on the benefits and harms of screening.

Researchers assessed whether international differences in recommendations of whether to screen for rare diseases using the new-born blood spot test may be explained by use of systematic review methods.

Across the world the conditions screened for by the new-born blood spot test differ. The number ranges from five to 60 on screening panels.  

Reviewers analysed 93 reports that included 104 conditions from 14 from North America, Europe, Asia and Australasia.

The reports assessed a total of 276 conditions. Of these, 159 were in favour of screening, 98 were against and no suggestion was made either way in 19.   

Only 60 of the recommendations were based on evidence from a systematic review.

Evidence for test accuracy was not considered in 115 of recommendations, while evidence for the benefits of early detection and the potential harm of over diagnosis were not considered in 83 and 211 of recommendations.

One of the research’s co-authors, associate professor Sian Taylor-Philips from Warwick University, has called for further research ‘to understand why policymakers do not employ systematic review methods in their evaluations of evidence’ and they propose more international collaboration to undertake such reviews.


Taylor-Phillips S, Stinton C, Ferrante di Ruffano L et al (2018) Association between use of systematic reviews and national policy recommendations on screening newborn babies for rare diseases: systematic review and meta-analysis. BMJ. doi: https://doi.org/10.1136/bmj.k1612 

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