Neonatal Screening

A life-saving tool for babies born with treatable rare disorders


The ultimate goal

Screen4Rare’s ultimate goal is, through policy engagement, to work towards ensuring that all babies can have equitable access to newborn screening; a life-saving tool for conditions such as severe combined immunodeficiencies. Screen4Rare founding partners are:

  • IPOPI International Patient Organisation for Primary Immunodeficiencies
  • ISNS – International Society for Neonatal Screening

  • ESID European Society for Immunodeficiencies


Newborn (or Neonatal) screening saves lives. Currently available scientific evidence from world-wide neonatal screening programmes and pilots clearly demonstrates that the early asymptomatic detection enabled by neonatal screening, when linked to appropriate treatment, can be life changing and even lifesaving.

While screening for some conditions, such as phenylketonuria (PKU) or congenital hypothyroidism (CH) are in place in most national programmes, the implementation of others, such as severe combined immunodeficiencies (SCID) or spinal muscular atrophy (SMA), is more limited, despite growing attention over the past decade.


Screen4Rare is a multi-stakeholder initiative launched by IPOPI, ISNS and ESID aimed at exchanging knowledge and best practices on NBS for rare diseases. Its ultimate objective is to ensure all babies born in the EU can have equal access to NBS which can be a life-saving tool for conditions such as SCID.



The European Union’s (EU) added value in the field of rare diseases is well known. From the European Reference Networks (ERNs) to the EU research funding programmes, positive strides have been taken on health-related matters.



On 14 September 2021, representatives of the European Commission, European References Networks (ERNs), and Screen4Rare1 officially launched the ERN Expert Platform for Newborn Screening.



The first INSD was celebrated on June 28th 2021 and will be celebrated every year in the future on the same date. The date of the INSD was chosen as a tribute to Dr Robert Guthrie, as such it is to be celebrated on his birthday: June 28th.


Value of NBS

NBS for RD plays a critical role in improving healthcare outcomes and mortality for rare diseases. In the specific case of primary immunodeficiencies, the results from recently established programmes at national level demonstrate that newborn screening can dramatically improve the outcomes for infants with Severe Combined Immunodeficiencies (SCID)

Founding Members

Screen4rare was founded by IPOPI, ISNS, and ESID. These organisations meet regularly to set Screen4Rare’s overarching strategy and guide the development of various workstreams within the initiative.


Member of European Parliment (MEP) Interest Group

The MEP Alliance for Rare Disease Newborn Screening (the S4R MEPs) is an informal MEP Group that brings Members of the European Parliament together to raise awareness and prioritise newborn screening for rare diseases policies at the EU level.


EU Health Policy Platform

The EU Health Policy Platform (HPP) is an online platform created to share ideas, knowledge and expertise. HPP allows users to create specific stakeholder platforms to allow for knowledge exchange.


At #GenomicFrontiers23, we’ll look at the implementation of #newbornscreening programs from around the world. Colleagues from England, Greece, Italy, and more will share their perspectives. Hope you’ll join us in April!
Full conference agenda:

We strive for earliest possible diagnosis of PIs, leading to longer & healthier lives for the people living with them. Since 2018, all babies born with SCID in the USA are immediately identified & treated through the #NewbornScreening program. Learn more:

The March 20-24th GPH Twitter Wrap-Up of the Week includes 4 enacted and 3 introduced state bills; and 1 proposed and 2 adopted state rules related to #NewbornScreening, #SickleCell disease, and more. Subscribe to receive the Wrap-Up in your inbox weekly!

Study of the Week: Scientists Develop More Effective Screening Method for Homocystinuria #StudyOfTheWeek #Homocystinuria #HCU #NewbornScreening

#Virginia Governor @GlennYoungkin signed a bill on March 23, 2023, to direct @VDHgov and the Department of General Services to convene a work group to evaluate the current funding model for the state’s #NewbornScreening program. Learn more at:

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