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Italy, three in the Netherlands, two in Spain, one in Belgium, one in England, one in Germany, one in
Greece and one in France [Figure 1A]. As illustrated in Figure 1B, four of these initiatives are enrolling
patients within a single clinical site or maternity ward (i.e., local). Three will be focusing on sites within one
region (i.e., regional), while four others will be recruiting from several sites across different regions within
their countries (i.e., multi-sites). Two other initiatives will be recruiting from sites within all regions within
their countries (i.e., national).

Funding
Only one initiative is supported solely through private funds (i.e., companies or for-profit organizations).
Six have secured (or are hoping to secure) public funding (i.e., governmental funding/not-for-profit
organizations), and the remaining seven are or will be using a combination of private and public funds.

Engagement with stakeholders
When asked about engagement with stakeholders such as patient advocacy groups and/or members of the
public, nine initiatives indicated plans for engagement. For one initiative, patients were consulted prior to
the project start to participate in discussions on the definitions of treatability and actionability for disease
conditions.

For the nine respondents who confirmed engagement with representatives of patient groups or the public,
the level and type of engagement varied. For example, public input was sometimes limited to discussions
around ethical, legal, and societal concerns, while others reported aspirations to engage with these groups
more broadly. Examples of broader engagement included involving representatives of patient groups either
within the steering committee or across all project activities. Another example of broad engagement is
illustrated by the organization of a national public dialogue, through representation on the steering group
and working groups, and via user research to support program design. In this instance, feedback from the
engagement carried out with different stakeholders involved will help inform the design of the NGS-based
NBS initiative.

Half of the initiatives have no plans to engage with the national NBS committee (or equivalent authority) of
their countries. Seven initiatives have plans to engage including six initiatives that have included a
representative of the national NBS committee within the steering or program committee to either (i)
oversee the impact of implementation on the current and future NBS program and ensure the quality,
accessibility, and affordability of using NGS for NBS; (ii) discuss what evidence would be required to
evaluate the program or (iii) simply be informed of the project’s progress.

Desired impact on stakeholders
Survey participants hoped to attract the interest of a variety of stakeholders by demonstrating the technical
feasibility of using NGS for NBS. Healthcare professionals (HCPs) and policy makers were the two most
cited stakeholder groups (cited by 12 and 11 initiatives, respectively), while NBS and other professional
societies, ministries of health, and patient advocacy groups were second (each cited by eight initiatives), and
finally, the public, cited by three initiatives [Figure 2].

Study design & methodology
Study type
Most initiatives will be exclusively using a prospective study design for patient recruitment (n = 9). Four
have opted for a pilot with two arms, including a prospective and a retrospective arm. One initiative will
only test a small cohort of patients retrospectively. Overall, retrospective studies planned to recruit fewer