The opinion of people living with a rare disease on newborn screening
Early diagnosis is key for people living with a rare disease as it allows families to plan for their child’s care and treatment, to prevent severe disabilities from developing, and even to save lives. Access to early diagnosis can be improved through newborn screening, which is the process of systematically testing newborns just after birth and making sure that they can receive appropriate care and follow-up. While there are still discrepancies in newborn screening programmes across Europe, the concept of newborn screening is widely accepted among the rare disease community: a previous Rare Barometer survey showed that 95% of people living with a rare disease were in favour of performing tests to diagnose rare diseases at birth.
The survey presented here, conducted by Rare Barometer with the Screen4Care project, goes further and explores the point of view of people living with a rare disease and their close family members on the possibility to screen their condition at birth, thus considering their direct experience. These insights valuably contribute to the development of newborn screening programmes across Europe.
