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system [6,8,9] and can be cost-neutral or cost-saving . Thus, it is reasonable to suggest that early identification
of treatable conditions with NGS-based NBS will also have long-term and potentially cost-saving impacts.

A rapid turnaround time from sampling to report is not a priority for most respondents, who would rather
gradually decrease the time-to-result while avoiding compromising more essential aspects such as quality
control and confirmatory testing. However, if the long-term goal is to implement NBS that is timely enough
for effective intervention, turnaround time is an important component as well as minimal disruption to
current NBS programs.

Besides technical feasibility, several challenges linked to NGS implementation in a screening and public
health program are shared between countries and initiatives. Those highlighted by survey responses include
the development of accessible clinical care pathways for all screened diseases, ethical challenges related to
autonomy, information and consent, long-term storage of genomic data, and integration or linkage to
medical records. While a discussion of legal, ethical, and privacy concerns is critical when considering the
use of genomic information in NBS programs, they were out of scope for the present study which was
primarily focused on providing an assessment of planned and ongoing NGS-based NBS programs in
Europe.

The survey also revealed an interest in engaging with relevant stakeholders and a recognition that
engagement, awareness, and education are necessary components of implementation. However, plans for
these activities were not well developed in all studies. Building the capacity of the workforce including
laboratory technicians, specialized physicians, midwives, and nurses with varying degrees of involvement in
NBS will be key to meeting the increased demands for clinical services downstream of expanded NGS-based
NBS programs. Compromising uptake of current NBS programs by the introduction of genomic testing is a
concern shared by many. Fostering public trust through engagement as well as education and information
of the public are key elements to ensure that uptake of current NBS programs will not be compromised by
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the introduction of genomic screening tests . The development of preference studies to better understand
conditions for the acceptability of genomic screening will help inform an optimal implementation of novel
technologies alongside traditional and existing NBS programs.

In conclusion, there are many initiatives being developed in Europe that will explore the utility and
feasibility of NGS approaches in NBS programs. This descriptive survey of current programs ongoing or in
planning across Europe is an opportunity to survey the landscape, share knowledge and experiences, and
reflect on the path towards future implementation. While the projects are heterogeneous in design and
maturity, each has the opportunity to contribute information that will enable responsible implementation of
NGS in NBS, helping to identify what additional evidence is needed for adoption and informing future
research. Confirmatory testing, follow-up protocols of the newborns, conditions for public acceptability,
and tracking of downstream healthcare costs are all elements that would benefit from a more unified
approach across initiatives. Considering the low prevalence of rare diseases and the small datasets generated
by current pilots, sharing data across initiatives will be critical to provide sufficient evidence to demonstrate
the clinical utility and cost-effectiveness of NGS in NBS and to consider future implementation within the
national healthcare systems and public health programs. We hope that this overview of European NGS-
based NBS initiatives will encourage communication and collaboration across countries, in Europe and
beyond, avoiding duplication of effort, identifying priorities for resource allocation, and leading to
consensus messaging for the expansion of NBS programs around the world.