Let’s celebrate INSD together: neonatal screening for rare diseases could save lives
On the occasion of International Neonatal Screening Day (INSD) 2024, the EHC joins the Screen4Rare initiative in celebrating the importance of neonatal screening for those living with a treatable rare disease.
Available scientific evidence from worldwide 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. Neonatal screening for rare diseases could save globally more than 100,000 newborns from death or life-altering illnesses each year.
A survey recently presented by Rare Barometer (a EURORDIS global survey initiative available in 23 languages) and Screen4Rare, confirmed that the concept of newborn screening is widely accepted among the rare disease community, considering the direct experience of people living with a rare disease and their close family members. Getting an early diagnosis is key as it allows families to plan for their child’s care and treatment. These insights will valuably contribute to the development of newborn screening programmes across Europe.
However, despite its undeniable importance, only 1 in 3 newborns worldwide undergo any form of screening while many infants are only screened for a limited number of conditions. There is an urgent need to ensure equitable and quality access to neonatal screening globally and help make best practices become common practice.
The International Neonatal Screening Day is a collaborative effort between the European Society for Immunodeficiencies (ESID), International Patient Organisation for Primary Immunodeficiencies (IPOPI) and International Society for Neonatal Screening (ISNS), which have joined forces through the Screen4Rare initiative.
INSD is a great opportunity to raise awareness about the importance of neonatal screening to speed up the diagnosis and treatment of rare diseases throughout the world. Let’s work together to ensure that every newborn receives the necessary screenings for a healthy start in life!
Download the Screen4Rare infosheet on why newborn screening matters here.
What is Screen4Rare?
Screen4Rare is a multi-stakeholder initiative aimed at highlighting the significance of neonatal screening for newborns. Through policy engagement, the group’s ultimate objective is ensuring that all babies can have equitable access to newborn screening – a life-saving tool for conditions such as rare diseases.