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collaborate with patient organizations appear to have relatively improved programs. These examples
demonstrate that PO partnerships are critical for continued NBS expansion and sustainability of
intervention and care post diagnosis. The number and maturity of regional POs are growing, and there is
growing interest in learning from the successes and leveraging the opportunity to develop advocacy.
Together, they will augment the work of healthcare providers in supporting affected families with
knowledge and support services.

EURORDIS - rare diseases Europe
NBS is a priority topic for EURORDIS, an umbrella PO for rare diseases in Europe with 1042 member POs
across 74 countries. By exchanging best practices and engaging in structured European Union (EU)
collaboration, EURORDIS aims to achieve equity in NBS in Europe. EURORDIS adopts multiple
approaches to advance NBS, such as the NBS Working Group, a multistakeholder group of 35 members
[30]
from 15 countries .

EURORDIS recognizes the potential of new NBS technologies and genomic testing and plays a critical role
in the Innovative Medicines Initiative (IMI)-funded project Screen4Care, which aims to accelerate rare
disease diagnosis through NBS and digital technologies. Within the project, EURORDIS has contributed by
developing and launching a Rare Barometer survey on NBS, which was responded by over 6,000 individuals
living with a rare disease and their families, providing an empirical basis for identifying robust criteria for
actionable diseases benefiting most from NBS and for developing a list of actionable diseases for genetic
[31]
NBS . Moreover, EURORDIS enhances and encourages patient involvement in the project through its
stakeholder NBS working group, which provides input on all activities and challenges related to the
development of genetic NBS and its implications for patients, as well as through the Patient Advisory Board.
EURORDIS’ efforts have gathered momentum and recognition from European institutions, with 21 EU
countries supporting the EU Council Presidency Call to Action from the Expert Conference on Rare
Diseases “Towards a new European policy framework on rare diseases”, to the European Commission and
Member States in October 2022.

SMA Europe
Spinal muscular atrophy (SMA) is a rare, genetic neurodegenerative disease that affects mainly infants,
young children, and adults. Three new treatments have been approved by the European Medicines Agency
(EMA) between 2018-2022, improving the patient life expectancy and prognosis. However, children
receiving treatment still develop motor disabilities, with severity varying based on the age of diagnosis and
the extent of motor impairment at the start of treatment. Clinical trial evidence demonstrates that all three
new treatments are more efficacious when initiated earlier.

The SMA NBS Alliance was created in February 2020 to accelerate the adoption and implementation of
NBS for SMA in Europe. In 2020, only three European countries had SMA NBS for parts of the countries or
[32]
as a pilot . The Alliance is led by a steering committee of patient advocates and HCP. It is supported by
pharmaceutical companies working in SMA, manufacturers developing screening assays, and universities
contributing medical, ethical, and economic knowledge. Alliance activities began by developing campaign
materials to educate, engage, and raise awareness, and in late 2020, published a White Paper detailing the
scientific, economic, ethical, and social case for SMA NBS to help national authorities respond to calls for
inclusion of SMA on national NBS panels . By late 2022, > 50% babies born in Europe were being screened
[33]
for SMA within the first week of life. Today, the Alliance provides targeted support to national SMA
organizations in countries where SMA screening is unavailable, through organizing conferences, drafting
arguments, launching communication campaigns, and sharing best practices and learnings between
countries. The Alliance also supports/funds meetings of European experts to recommend the best screening
techniques and harmonize practices.