Gulcin Gumus
Research & Policy Senior Manager, EURORDIS-Rare Diseases Europe
Explore disparities in newborn screening across Europe and discover why expanded screening for rare diseases is essential for healthier futures and social equity.
In Europe, significant disparities exist in newborn screening programmes. For example, Italy screens for over 45 diseases, exceeding the efforts of other countries. In contrast, England’s National Health Service screens for only nine conditions, though this will soon increase to 10.
Newborn screening programme disparities
Programme disparities go beyond the number of diseases screened; the types of conditions included also vary significantly. Some countries have expanded their programmes to cover a wider range of conditions, but there is little consensus among European countries on which diseases should be included.
In May 2024, EURORDIS-Rare Diseases Europe released findings from its Rare Barometer survey on newborn screening. The survey revealed that 73% of over 5,000 respondents would have found it beneficial if the rare disease affecting them or a family member had been diagnosed at birth. Furthermore, 90% of respondents believed that all rare diseases should be screened for at birth, even without a dedicated treatment. This would lead to quicker diagnoses, better recognition of social support needs, improved healthcare follow-up and harm prevention.
90% of respondents believed that all rare
diseases should be screened for at birth.
Clear advantages of screening for more conditions
It can significantly reduce the often years-long, traumatic diagnostic journeys that many families impacted by rare diseases endure, facilitating timely access to healthcare and crucial early interventions. Another EURORDIS survey of over 10,000 rare disease community members revealed an average diagnostic wait of 4.7 years, despite early detection being fundamental to ensuring healthier and longer lives for children.
Beyond healthcare, early diagnosis can lead to better recognition of disabilities, resulting in more appropriate social support and enhanced opportunities for independent living. Newborn screening can promote longer, healthier lives and enhance the wellbeing of affected families.
Newborn screening concerns
Despite overwhelming support for expanded newborn screening, a minority (11%) expressed concerns about potential anxiety, stigma and discrimination associated with early diagnosis. These concerns highlight the need for robust public policies to tackle discrimination, provide guidance on data safeguards and promote counselling and mental health support for families of newborns diagnosed through screening.
Call for expanded screening
September marks Newborn Screening Awareness Month. The call for expanded screening is not just a healthcare issue but a matter of social justice and equity. The screening programme disparities across Europe necessitate comprehensive measures to ensure all children with rare diseases are identified, giving them the opportunity for healthier futures.
