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provides a general overview of existing evidence-based health-policy initiatives aimed at enhancing the equity and
efficiency of the NBS programme in Spain and their impact on health decisions. We also describe existing
challenges to reduce uncertainty, and the variations observed in decisions relating to the content and procedures
used in NBS programmes.

Keywords: Newborn screening, inherited disorders, health-policy, equity

INCREASING INEQUALITIES IN NEWBORN SCREENING IN THE EUROPEAN UNION
NBS for inherited disorders is recognized as an essential public health intervention to improve health
outcomes in the newborn population, by identifying and treating infants with life-threatening or debilitating
disorders early in post-natal life, before clinical symptoms appear . Determining which of the known
[1,2]
disorders should be included in NBS programmes is a public health policy challenge that must take into
account different perspectives (e.g., medicine, science, public policy, advocacy, ethics, and economics) .
[3]
The scientific evidence available to support decisions about which conditions should be included in NBS is
often quantitatively and qualitatively limited, making it difficult to anticipate expected long-term outcomes
that may occur, in order to support decision-making about extending NBS . Policy makers and
[4,5]
stakeholders must often rely on incomplete data and limited scientific evidence to decide whether a rapid
expansion of the NBS panel is more desirable than maintaining a more deliberative pace . Existing NBS
[6,7]
programmes vary widely in the number and type of disorders screened [8-10] , even among the most developed
European countries, despite the fact that the core criteria for guiding policy decision-making are
standard [11,12] . These criteria not only include an assessment of the effectiveness of the NBS but stress the
need to assess economic consequences alongside other factors such as acceptance [11-13] . These policy
variations and their consequences, such as health inequalities from the earlier stages of life, occur
[14]
internationally and intra-nationally, regardless of epidemiological and socio-economic issues , especially
in European countries such as Spain with decentralized governmental jurisdictions.

Past technological advances allowed for the expansion of NBS services [15-20] , due mainly to the proven
favourable performance and low costs of tandem mass spectrometry (MS/MS) [21,22] , the development of new
therapeutic options (e.g., gene therapy and enzyme replacement therapies), and improved knowledge of
some inherited metabolic disorders [8,23] . Moreover, differences in the application and interpretation of
universal screening implementation criteria at a health-policy level are increasing the variations observed in
[9]
the contents of NBS programmes . It is likely that with the increasing potential of next-generation genomic
sequencing in NBS, these differences may become even more pronounced in the coming years , despite
[14]
relevant uncertainties linked to classic Wilson and Jungner criteria, such as lack of knowledge about the
natural history of many screened diseases, the potential harm of false-positive screening tests, the limited
[24]
availability of effective treatments, or economic, social and ethical considerations . Regardless of the
existing frameworks for guiding health policy screening decisions , the subjective character of some
[25]
criteria, such as the importance of the health problem in question, together with the accessibility of new,
effective, and cost-effective screening methods, variations in the interpretation of available evidence for a
given condition, and the public advocacy by families, professionals, and state legislators, have led to some of
the observed variations .
[14]

Economic data relating to NBS have often been based on cost estimates rather than complete economic
evaluations and opportunity-cost considerations [26,27] . Costs have played a favourable role in decisions
because the direct costs of additional screening tests are relatively low, regardless of the considerable
uncertainty about the effectiveness of available treatment options [26-29] . The role of costs needs to be