A new EU-funded initiative, SCREEN4CARE, aims to implement genetic screening for all newborns in Europe to detect a wide range of rare diseases. With up to 36 million people affected by these conditions across the EU, the project hopes that genetic testing, combined with AI-driven data analysis, will help speed up diagnosis and treatment.
Dr. Alessandra Ferlini, associate professor at the University of Ferrara in Italy and project coordinator for SCREEN4CARE, highlighted in a Horizon Magazine article the key benefits of genetic screening. It will provide more precise data for diagnosing rare diseases, many of which are genetic in origin. Of the 6,000–8,000 rare diseases currently known, 80% are genetic, with 70% beginning in childhood.
The SCREEN4CARE project has already begun its genetic screening trials in Italy, with plans to extend to other EU countries. The trials aim to screen 25,000 newborns for 245 treatable rare diseases. This will involve collecting five drops of blood from newborns two days after birth and using advanced sequencing technology.
Earlier Diagnosis for Better Outcomes
The genetic screening initiative is expected to provide earlier diagnoses, which could lead to faster treatments and better health outcomes. It will also contribute valuable data for ongoing research into rare diseases. Gulcin Gumus, senior manager of research and policy at EURORDIS – Rare Diseases Europe, a partner in the project, emphasized that the screening would help families understand their child’s condition and access the necessary support and financial assistance.
Currently, diagnosing a rare disease can take an average of 4.7 years after symptoms first appear, according to a 2024 survey by EURORDIS. Newborn genetic screening would significantly reduce this waiting time, alleviating patient suffering and improving healthcare efficiency.
Call for Uniform Screening Across the EU
At present, newborn screening programs vary greatly across European countries, with Italy testing for over 40 conditions and Romania screening for just two. Aldona Zygmunt, director of policy and public affairs at SCREEN4CARE partner Pfizer, stressed the importance of a uniform approach to newborn screening across the EU. This would ensure fair and timely access to diagnoses for all European citizens.
In addition to genetic screening, SCREEN4CARE is also exploring the use of machine learning in diagnosing rare diseases. One study focuses on the experiences of European Reference Network members with AI technologies, while another investigates how AI providers navigate complex healthcare systems.
Supported by the Innovative Medicines Initiative, a partnership between the EU and the European pharmaceutical industry, SCREEN4CARE is set to conclude in 2026. The project hopes to create a faster, more efficient path to diagnosing rare diseases, benefiting both patients and the healthcare system.
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