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result, showcasing that 80% of the infants involved in the trial were able to sit without support for at least 5 s
after one year of treatment [11-13] .

In February 2020, at the SMA Europe Scientific Congress (Évry, France), SMA patient organizations and
leading clinicians in the field expressed their concern about an important loss of opportunity for early
intervention for infants not screened at birth. Subsequently, they created the European Alliance for SMA
NBS. The goal of this Alliance is to accelerate the inclusion of SMA in the NBS program in Europe. It
emphasizes that delays in adding SMA to the screening programs could result in children not being
identified early enough, thus missing out on available life-saving treatments.

The Alliance has developed tools to assist clinicians and national patient organizations in advocating for the
implementation of NBS screening in their countries, such as flyers or posters to support the advocacy
actions, and developed a white paper that addresses most of the questions related to access to diagnosis,
treatments, and care, and that, at the same time, may encourage the introduction of SMA screening in the
national programs in Europe.

How does SMA address the Wilson & Jungner criteria and why should it be included in all NBS
programs
The Wilson and Jungner criteria were first published in 1968, and it comprises 10 principles of population
screening with the scope of guiding the screening decisions [14-16] . The principles are explained below in
Table 2, together with arguments to screen for SMA at birth based on each criterion.

In reality, the inclusion of SMA screening in NBS programs in Europe has been moderately successful so
far. In 2020, less than 25% of the babies born in the EU were screened, and this rate drops to 15% in
[22]
continental Europe . In comparison, three years after SMA was added to the federal recommended list of
diseases for screening at birth, 98% of the newborns in the United States of America are now screened for
[23]
SMA at birth .
Main obstacles encountered - cumbersome, redundant and complicated administrative procedures
The implementation of NBS in the EU member states is disparate, and sometimes, as it happens in Spain or
Italy, it is a decision at the regional level. This multiplies the number of dossiers to be submitted, sometimes
with contradictory analyses from one country to another. In order to facilitate the constitution of the
different dossiers, the Alliance has produced a white paper answering the main questions asked by the
national or regional agencies with the associated scientific references .
[22]

The national procedures for implementing screening might sometimes be unclear, not fully transparent and
therefore difficult to understand for many stakeholders including patient associations. The Alliance, with
the support of the CRA, has carried out a mapping of the different procedures by country and identified
points of contact, as well as a series of good practices or success stories based on the feedback received. This
study shows that in some countries, there is no formal procedure and usually, in a vast majority of them, a
patient association is not authorized to initiate a request for NBS for a disease. The patient advocacy
associations are sometimes consulted during the development of a new series of procedures, but in most
[22]
cases, their input remains minimal, and it is not captured either through formal or informal meetings .
Data privacy concerns
Genetic data are considered sensitive data according to the EU General Data Protection Regulation
(GDPR). Furthermore, many countries, including France, have a very strict legislation regarding the
protection of genetic data of their citizens. Consequently, the implementation of genetic screening requires
a specific national legislative change.