On Thursday 23 May, the ERN-RITA stream lead for Primary Immunodeficiencies (PID), Michael Albert, and the RITA patient representative for IPOPI, Johan Prévot, took part in a webinar organised by Screen4Rare (S4R) on Newborn screening as a life-saving intervention: How should the EU support Member States to enhance their programs. During the webinar, key achievements were discussed, with a focus on the collaboration with European Reference Networks (ERNs), recommendations to prioritise newborn screening (NBS) and increase institutional support for ERNs in the upcoming European political mandate (2024-2029).

The meeting, attended by over 60 participants was a joint efforts with ERNs MetabERN, ERN-RITA, and EURO-NMD, and received support from the S4R MEPs Alliance. The event facilitated dialogue between ERN leaders and the European Commission and advanced the activities of the three Screen4Rare Workstreams.

Besides demonstrating the strong and existing unity of purpose among patients, professional experts, and European institutions, Screen4Rare emphasized the importance of taking action based on these agreed points during this webinar:

  • Work together to provide unbiased evidence using a common dialogue platform to share data and good practices.
  • Recognise that newborn screening creates harms and benefits and therefore requires careful planning.
  • Respect Member States’ autonomy and raising awareness of the need to update national plans.
  • Recognise the need for careful planning and monitoring of the newborn screening pathway, the benefit of ensuring clear case definitions for the conditions tested and the importance of long-term outcome studies to assess and improve impact.
  • Establish an NBS expert advisory committee free from bias or national interests, trusted high-quality information to support decision making at a national level. The ERNs’ involvement together with screening experts is key in the fostering of equity on NBS for RD in the EU.