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Table 2. Why SMA should be screened at birth based on Wilson & Jungner criteria
Wilson & Jungner criteria Argument for SMA
1. The condition sought should be an important health problem Half of the children affected by the disease die before the age of 2 years old
2. There should be an accepted treatment Three treatments are showing efficiency
And all trials have demonstrated improved efficacy if administered
presymptomatically
3. Facilities for diagnosis and treatment should be available Monogenic diseases due to double deletion of the SMN 1 gene
4. There should be a recognized latent or early symptomatic Floppy Infant Syndrome
stage
5. There should be a suitable test or examination Genetic Polymerase Chain Reaction (PCR) test is available [17]
6. The test should be acceptable to the population Early treatment prevents the death of babies or permanent disabilities
7. The natural history of the condition should be adequately The natural history of the disease is published and well documented [18,19]
understood
8. There should be an agreed policy on whom to treat as Scientific publications recommend whom to treat [9,20]
patients
9. The cost of case-finding should be economically balanced Cost-effectiveness studies show efficiency in all countries where they were
[21]
performed
10. Case-finding should be a continuing process SMA is a recessive disease, and NBS should be applied permanently to identify
new cases

In many European countries, dried blood samples are stored after the NBS test is performed for research
purposes. However, the parents or caregivers need to express their consent (opt-in or opt-out) for the
sample to be stored or destroyed, de-identified, used for further scientific purposes, or shared through
different research platforms. Secondary use of data would be possible in collaboration with the European
biobank infrastructures which can oversee the legal requirements and privacy protection regulations and
compliance with GDPR and national legislation. Moreover, as data sharing and re-use may provoke certain
concerns related to breach of privacy and stigmatization, it is essential to name the safeguards that are in
place pre- and post-procedures. An alignment in executing the NBS programs across Europe would be
possible if it is offered as a service respecting the legal provisions and funded publicly, following a specific
consent related not only to the immediate benefit for the infant, but also to the research results and possible
applications, such as in the identification of novel biomarkers for SMA. Specifically, analyzing the link to
disease progression or predicting individual responses to therapy would enable further clarifications on the
disease pathogenesis and therapeutic response.

Country-specific pilot initiatives for including a new disease in the national NBS programs
Recently, many countries have expressed their wish to develop a pilot program, often targeting a subset
group of their population, as a prerequisite to the national implementation of including a new disease
within their NBS program. This practice is certainly useful for the countries introducing a new disease into
their screening panel, but for SMA, the pilots conducted in Germany or Belgium , as documented in
[24]
[25]
scientific publications, have displayed the inequalities between the citizens of these countries. In Belgium,
for example, the Wallonia region implemented screening very quickly at the beginning of 2020, whereas the
Flemish part initiated it in 2022. The existence of a country-specific coalition, along with the sustained
exchange of knowledge, perspectives, procedures, and strategies, is essential to diminish the possible
variations encountered per region of the same country.

Implementation of genetic NBS
In several countries, SMA screening is the first to be carried out through genetic analysis [6,26] , and it has
raised numerous questions from the local health authorities on both technical approaches and ethical issues.