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Much policy on newborn blood spot screening ignores evidence

Many national recommendations on screening are not based on evidence of key benefits and harms, say researchers

Louise Prime

Thursday, 10 May 2018

Many national policy reviews of screening for rare conditions using the newborn blood spot test do not assess the evidence on the key benefits and harms of screening, UK researchers have concluded. They said today in the BMJ* that using systematic review methods is associated with a reduced probability of screening being recommended – but they added that full systematic reviews that assess each key element of a screening programme can be time consuming and expensive, so they proposed international collaboration on such reviews, adapted as necessary to local populations and prevalence.

The research team commented that decisions about which conditions to screen for using the newborn blood spot test vary widely between countries, despite having similar populations and healthcare systems; and that no systematic assessment had previously been done of the effect of evidence review methods that different countries use for decision making on screening.

They wanted to look into this further, so they analysed 93 reports that had assessed 104 conditions across 14 countries, giving a total of 276 recommendations. Overall, screening was favoured in 159 (58%) recommendations, not favoured in 98 (36%), and not recommended either way in 19 (7%).

The researchers found that only 60 (22%) of the recommendations were based on evidence from a systematic review – and that use of a systematic review was associated with a reduced probability of screening being recommended (38% v 63%).

They also reported that 42% of recommendations by national policy making organisations about whether or not to screen babies for diseases using the newborn blood spot test do not take account of the evidence on test accuracy, 30% do not review evidence about whether early treatment improves health outcomes, and 76% do not consider the evidence around potential harms of overdiagnosis.

They commented: “This study showed that many national policy decisions about whether to screen for conditions using the newborn blood spot test are being made without systematically reviewing the evidence. … Yet it remains essential to make evidence-based policy decisions because once screening programmes are started they are difficult to stop.”

They concluded: “We recommend that whenever possible a systematic review of the literature should be undertaken as part of policy decisions on whether to commence screening. Full systematic reviews that assess each key element of a screening programme can be expensive and time consuming – particularly in the absence of trial evidence, and we propose more international collaboration to undertake such reviews.”


* Taylor-Phillips S, Stinton C, Ferrante di Ruffano L, et al. Association between use of systematic reviews and national policy recommendations on screening newborn babies for rare diseases: systematic review and meta-analysis. BMJ 2018; 361: k1612 doi: 10.1136/bmj.k1612

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