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Valcárcel-Nazco et al. Rare Dis Orphan Drugs J 2023;2:19 https://dx.doi.org/10.20517/rdodj.2023.14 Page 7 of 11

Table 1. Number of neonatal disorders included in regional NBS programmes: Spain 2003 and 2020
2003 * 2020
Spain
Without availability of HTA reports Supported by HTA reports
Castilla-León 3 7
Asturias 3 7
Baleares 3 7
Canarias 2 7
Cantabria 2 7
Navarra 2 7
Valencia 3 7
Pais Vasco 2 7
Extremadura 5 18
Madrid 3 18
Castilla La Mancha 4 22
Cataluña 3 25
Aragón 3 30
La Rioja 3 30
Galicia 25 30
Andalucía 3 35
Murcia 3 40

*
Data should be taken with caution, given the lack of validated records from 2003.

This paper shows that variations in the content of NBS programmes can actually increase, notwithstanding
the existence of a specific procedure to guide decisions based on the critical evaluation of the best available
scientific evidence of such programmes’ effectiveness, cost-effectiveness, and economic, organizational,
ethical, and social impacts. Although the data reported here refer to different Spanish regions, similar
findings are observed in other developed countries worldwide [10,51] . It is possible that some of the differences
observed among countries could be accounted for by the different considerations of economic aspects in
general, and, particularly, the availability and consideration of economic evaluations adapted to each
country [10,52] . While in some cases, there is no information available on the cost-effectiveness of the screening
programmes under consideration, in others, this information is not valued or used, regardless of whether it
might be available [53,54] . It is somewhat more difficult to interpret the differences observed between the
Spanish ARs, which seem to fall into two blocs, one that clearly adheres to recommendations based on cost-
effectiveness criteria, and the other, in which application of this criterion might be diluted by the effect of
other potential considerations.

Economic evaluation, in terms of cost-effectiveness or cost-utility, is a central component of health
technology assessment reports to inform public funding decisions for new interventions, given that budgets
do not grow at the speed at which healthcare innovations of potential value do. Precisely to ensure that
available budgets are allocated to fund innovations of the greatest value to health, CEAs combine costs and
health outcomes and compare them with those corresponding to other innovations, possibly even outside
the scope of NBS programmes. This procedure brings transparency and reproducibility to decision-making.
It is true, however, that this procedure might stop funding emerging for diagnostic or therapeutic
innovations aimed at people affected by rare diseases, for which there are few alternatives, either because of
the relative lack of robust evidence of their efficacy or their high cost. In order to address the barrier posed
by the cost of innovations in the field of rare diseases, without sacrificing transparency and reproducibility
in decision-making, one proposal is to establish threshold values of willingness to pay other than those of
the general population [55,56] . Another procedure increasingly used to guide innovation-funding decisions