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:
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.
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)