Rare Diseases Europe (EURORDIS) has released key insights from a major survey focusing on newborn screening for rare diseases, executed under their Rare Barometer initiative and as part of the Screen4Care research project from May to July 2023. Collaborating with a variety of experts such as policymakers, patient advocacy groups, and geneticists, this extensive survey involved 6,179 participants from more than 50 countries, emphasizing a global representation of over 1,300 rare diseases.
Jessie Dubief, Social Research Director at EURORDIS, highlighted the profound benefits of newborn screening revealed by the survey results. It enables families to prepare and adapt early for necessary healthcare interventions, facilitating better and longer lives for newborns by providing quicker access to suitable medical care and support.
The data revealed a strong preference for diagnosing rare diseases at birth, with 73% of participants in favor, appreciating the advantages of early detection. Conversely, only 11% were against it, mainly due to concerns about potential anxiety, stigma, and negative impacts on insurance and banking. Despite their smaller number, the concerns of this group underscore the necessity for policy improvements to address mental health and social inequalities within the rare disease community in Europe.
Survey Shows Strong Support for Expanding Newborn Screening for Rare Diseases
The survey indicated overwhelming support for screening all rare diseases at birth. Ninety percent of respondents backed universal newborn screening if it meant faster diagnosis, better recognition of disabilities, enhanced social support, and prevention of further health complications.
Virginie Bros-Facer, Chief Executive Officer of EURORDIS, called on European policymakers to expand the capabilities of current newborn screening programs. She emphasized that identifying rare diseases early through screening could lead to targeted treatments and better healthcare outcomes, thus improving the quality of life and independence of affected individuals. These findings underline the community’s strong endorsement of newborn screening as a crucial early health intervention. Despite limited treatment options for some conditions, early screening is vital for reducing health complications and enhancing life quality.
In 2021, EURORDIS established 11 Key Principles for Newborn Screening to promote a unified approach across Europe to expand birth screening programs. This initiative represents a commitment by the European Union and national governments to uphold the highest health standards for all newborns. The results will be further discussed at the 12th European Conference on Rare Diseases and Orphan Products (ECRD 2024), scheduled for May 15-16, 2024.
EURORDIS Expands Rare Disease Engagement and Support, Advances Newborn Screening Research
The survey report and findings will be available in English, with factsheets in 15 languages and detailed survey results in 24 languages, ensuring extensive access and community engagement. For more information, visit the Rare Barometer website.
EURORDIS-Rare Diseases Europe is a non-profit alliance of over 1,000 rare disease organizations from 74 countries, dedicated to improving the lives of the 30 million people living with a rare disease in Europe. By fostering connections among individuals, families, groups, and stakeholders, and mobilizing the rare disease community, EURORDIS enhances the patient voice in shaping research, policies, and services.
Screen4Care, funded by the Innovative Medicines Initiative (IMI) from 2021 to 2026, is a pioneering research project aimed at accelerating rare disease diagnoses through genetic newborn screening and digital technologies. It addresses the long and often burdensome diagnosis journeys that patients with rare diseases typically endure.
Resource: Rare Diseases Europe, May 07, 2024
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