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Page 6 of 11 Valcárcel-Nazco et al. Rare Dis Orphan Drugs J 2023;2:19 https://dx.doi.org/10.20517/rdodj.2023.14

variations in the content of NBS programmes at a regional/national level [16,45] . Moreover, as the number of
disorders added to NBS programmes increases, maintaining a balance between privacy and the rights of
society (parents), a debate arises as to the use of screening in cases where the reliability and availability of
treatment are limited. Hence, to explore the “benefit potentials” of screening, RedETS involved patient
associations, expert physicians, scientific societies, and public health professionals along the HTA process,
in order to inform policy decisions.

The relatives of affected people, integrated into officially constituted patient associations, were deliberately
involved from the beginning of the evaluation process of each of the selected disorders so that they could
make their viewpoint known and make a contribution to relevant aspects [46-48] . In addition, a call to
participate was made to the major patient federations that bring together most patient associations, such as
the Patient Platform, the Spanish Patient Forum, the Spanish Federation of Rare Diseases, and the Spanish
Federation of Metabolic Diseases. Designated representatives were included as collaborating experts in the
teams that laid the foundations for drawing up both the protocol and the assessment report.

Scientific societies linked either to the technology to be assessed or to the health problem targeted, such as
the Spanish Association for the Study of Inborn Errors of Metabolism (AECOM), Spanish Paediatrics
Association (AEP), Spanish Society of Inborn Errors of Metabolism (SEEIM), Spanish Society of Laboratory
Medicine, Perinatal Diagnosis Commission (SEQCML-DP), Spanish Society of Epidemiology (SEE), Rare
Diseases Research Institute (IIER), and the Federation of Spanish Medical Scientific Associations, were also
invited to take part as experts in the drafting of HTA reports. Additionally, individual experts were sought
through an informal review of indexed scientific publications related to the subject, and invited to
participate in the preparation of the report. Similarly, industry representatives were invited to participate in
the assessment process from its inception, undertake protocol data verification and provide additional
information of interest. In the end, they were able to review the final report and make amendments to it.

IMPACT OF EVIDENCE-BASED HEALTH POLICY DECISION-MAKING FOR NBS IN SPAIN
Table 1 shows changes in the number of neonatal disorders included in regional NBS programmes in Spain
between 2003 and 2020. As can be seen, there was an increase in regional variations, despite the SNHS
Inter-territorial Board’s recommendations to the ARs, made by the experts and based on the availability of a
wide series of HTA reports issued by RedETS. Although a group of six ARs accepted the Ministry of
Health’s recommendations, offering evidence-based NBS programmes limited to seven disorders of proven
effectiveness and cost-effectiveness, other ARs offer programmes in which the number of screened disorders
ranges from 18 to 40.

WHAT WE HAVE LEARNT
As shown, the Spanish Ministry of Health considers evidence-based data essential to inform decisions on
NBS programme revisions. Therefore, considering the natural history and consequences of a given disorder,
[2]
the accuracy of screening for it, the harms and benefits of early diagnosis , and the opportunity cost of
publicly funding it are key elements in the decision-making process [39,44] . Unfortunately, in Spain and other
countries, common NBS programme policy decisions are often made with limited evidence and incomplete
data. Decisions around these public health programmes become challenging when disorders are rare with a
low incidence, advocates have a stronger role in decisions, new treatments are emerging, and technology
makes NBS more feasible , sometimes with undesirable results .
[50]
[49]