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uses Multicriteria Decision Analysis to ensure that all relevant criteria, including societal values, are
considered in a more open and participatory manner, in which costs or cost-effectiveness data do not
constitute a limiting barrier [57,58] .

In this scenario of searching for procedures to inform health policy decisions in a manner that is
responsible, transparent, reproducible, participatory, and sensitive to the unmet needs of society, it is still
necessary to intensify efforts to obtain more valid information on effectiveness by making available
information on relevant health outcomes. Sharing research information and promoting pilot studies among
international partners is a vital part of the process of expanding NBS, by developing consistent case
definitions for conditions included within NBS programmes, helping to ensure the interoperability of long-
term outcome studies to increase the availability of screening, and subsequently benefiting wider
[24]
populations . Opportunity costs and potential benefits beyond the child should be factored in, thus
structuring a policy that will distribute costs and benefits fairly .
[30]
Regional studies using long-term observational designs have been set in motion in some countries to
evaluate the feasibility, diagnostic-process quality, and population distribution of biomarkers, by defining
cut-off values, establishing patient-care pathways and algorithms for patient care, and measuring longer-
term relevant health benefits [58-60] . Furthermore, national registries for inborn errors of metabolism have
been implemented to assess outcomes at a population level, while also acting as electronic medical records
that help clinicians monitor treatment and record progress, as in Sweden . To address substantial gaps in
[61]
NBS evidence, the US State of North Carolina established the Early Check initiative as a translational
research enterprise embedded in a public health programme, with the dual aim of informing NBS policy
and quantifying the potential benefits and risks of early identification and pre-symptomatic treatment of
infants that have rare disorders, for a select number of conditions, offered as a supplement to standard NBS
to all birthing parents under a voluntary research protocol . Similarly, the Spanish Ministry of Health has
[2]
developed Post-Launch Evidence Generation (PLEG) studies, which can provide post-marketing real-world
evidence, thereby enlarging the scope of HTA in the life cycle of innovations while making the innovation
[62]
under research accessible to society. The PLEG studies can be boosted at the request of health authorities,
because of their need to rely on additional evidence to make decisions about innovations with high potential
value but limited knowledge regarding their long-term effects. Despite the interest in these regional/national
initiatives, as the COVID-19 pandemic has recently revealed, more international collaboration within the
European Union is required to increase sample sizes and reduce the uncertainty of the different parameters
of NBS programmes, something that translates as substantial variations in the number of disorders screened
and, probably, in the quality of their application and the results obtained in the short, medium, and long
term.

It is possible, however, that all these efforts to reduce uncertainty and variations in decisions relating to the
content and procedures used in NBS programmes would not suffice to resolve the inequalities in the supply
of services between territories, as shown in this paper. It is also necessary to know and understand both the
decision-making processes and the criteria applied by the decision-makers in the different Spanish regions,
which have resulted in such different decisions, after starting from agreed political principles and a set of
common data based on scientific evidence. Accordingly, qualitative research must be incorporated into
these aspects, covering all the actors involved in decision-making.

DECLARATIONS
Authors’ contributions
Made substantial contributions to the conception and design of the study, performed data interpretation,
revised the draft critically for important intellectual content and finally approved the version to be