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Is it possible to have a European strategic recommendation for inclusion?
In the USA, the Advisory Committee on Heritable Disorders in Newborns and Children recommended a
Uniform Screening Panel to ensure the adequacy and uniformity of the evaluation programs, meant to
overcome various barriers and establish a national framework for scientific evaluation of conditions,
standardization of cases and reporting, better oversight of implementation procedures, data collection,
surveillance and re-use, as well as addressing the financial needs to deliver the relevant services to a wider
population . In Europe, patient advocacy organizations, with technical and scientific support from the
[40]
EMA, could propose recommendations for the inclusion of a new pathology in the panel of EU states, but in
this case, each state should define clear rules for meeting certain criteria to achieve the expected outcomes.

When faced with a lack of procedure, those wishing to propose the inclusion of a new condition are often
confronted with a missing action plan in terms of: who are the stakeholders that can initiate an application?
what scientific data and evidence should be provided to endorse it? what is the validation process for
inclusion of a new disease in the national panel? and what is the usual timeframe for handling such
requests?

An international alignment at the European level for SMA could improve equitable access in the provision
of NBS and ensure that newborns receive a qualitative screening for multiple diseases regardless of their
nationality, race, or socioeconomic background. Creating an ecosystem that gathers all experiences
reported, initiatives, and diagnostic approaches would move forward in the alignment of NBS screening
programs, and would diminish the current discrepancies and limitations that exist between countries.
However, taking into account the complexity of implementation in real-world settings, with the
development of accessible pathways, changes related to ethical and informed consent, data and scientific
sharing, including linkage of registries, the process of introducing new conditions in the national screening
panels remains difficult at this stage.

Is it necessary to have an innovative interconnected database?
To have more reliable statistical analysis, it will be necessary to gather all results with a pathophysiological
description in a single database. The European Reference Networks (ERNs) could play an important role in
centralizing the data at the European level. An identical analysis at the level of the other continents would be
desirable. Ideally, the interconnection of these data could advance the understanding of the disease and
serve as a basis for economic benefit-risk analyses.

CONCLUSION
There are still many areas for improvement to speed up and facilitate the procedures for including a new
condition in NBS programs in the European member states. A stronger commitment from countries and
healthcare organizations is essential for addressing the bottlenecks experienced by patients and their
caregivers. The EU can set the example by endorsing genetic screening as a fair procedure in terms of
human rights, and can take part in deciding if the screening techniques can be approved for more than one
disease, while EMA can play a role by providing treatment recommendations that have been proved to be
successful in the past and showed efficacy when administered presymptomatically. The engagement of
different stakeholders, especially the direct involvement of patients and patient advocacy organizations
across all NBS-related activities, remains a critical point in public health discussions, not limited just to
ethical or societal concerns, but also in connection with the advancement and harmonization of equitable
access to screening techniques and treatment options. Learnings from SMA therapy development and the
introduction of NBS in SMA in a consistent and European-wide manner can serve as a model for additional
rare diseases in the future.