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Patient organizations consulted the learnings and facts presented by the International Society for Neonatal
Screening (ISNS), and in 2020, a low level of interest was noted for screening via biological analyses.
Consequently, the Alliance has tried to address this issue by organizing an online webinar to get technical
answers from the genetic testing manufacturers and, at the same time, to clarify the effectiveness and the
risks of false negatives and false positives, and to remove any ambiguity about the eugenic nature of this
[27]
type of testing .
Screening findings
NBS is a fundamental public health service that identifies a potential risk for developing a rare or very rare
disease. Within the framework of SMA, as each country produces or tries to produce its own genetic
analyses, it becomes almost impossible to have a harmonized analysis across European countries. The
number of cases remains insufficient to support a comparative analysis, as the studies developed in different
countries often have conflicting results and are based on scattered data. The Rare Barometer developed by
EURORDIS‐Rare Diseases Europe, under the collaborative Innovative Medicines Initiative (IMI 2 JU)
Screen4Care, is an open survey available in 23 languages, which can be accessed by anyone in the world
suffering from a rare disease, carriers, or family members of patients. This survey systematically collects the
patients’ opinions on transversal topics, aiming to translate them into key facts and figures that can be
shared with a wider public, including policy and decision makers, thereby ensuring direct patient
involvement in exemplifying the topics that matter most to them .
[28]

The Rare 2030 Survey, initiated by EURORDIS-Rare Diseases Europe to explore the future of rare disease
policy and conducted through the Rare Barometer program, received 3,998 responses from all over the
world, and highlighted the growing interest among patient organizations to be directly involved in the
research process. The report underlines that only 18% of the responders (representing patients living with a
rare disease) had been previously involved in the development of treatments and therapies, and one of the
reasons causing this is the lack of public/private funding for small populations. Two hundred fifty-two
patient representatives expressed their willingness to contribute directly throughout the research process,
including helping researchers recruit participants for the clinical trials, reviewing research proposals to
ensure an alignment with patients’ needs, actively participating as partners or co-investigators, contributing
to raising funds, and actively disseminating information about the project research and its results, all of
which would bring clear benefits including for SMA patients and their families. Being actively involved in
the research process as an equal partner or co-investigator would ensure better dissemination of the
available resources, knowledge sharing, and cross-border alignment in multidisciplinary care for SMA
patients .
[29]

Strategies for disease prevention, detection, and treatment represent one of the priorities of the
International Consortium on Newborn Sequencing (ICoNS), a global alliance network founded in 2022 by
leaders from eight sequencing projects (BabySeq, Genomics England, GUARDIAN Study, BeginNGS, Early
Check, Screen4Care, ScreenPlus, and BabyBeyond) that tries through its annual conferences to represent
the vision of various international stakeholders on the implementation of NBS as a public health
measure . The Alliance brought to attention that a robust application of the NBS programs can be
[30]
achieved only through a common understanding and coordination among the parties involved. This can be
sustained through the development of an effective infrastructure adapted to the population’s necessities and
harmonized with the industry precompetitive challenges. An ICoNS working group has been tasked with
creating a functional mechanism for ensuring documentation consistency, alignment of terminology and
metrics, with the final objective of consolidating data results and facilitating the data sharing in the
consortium [30,31] .