Early Diagnosis, Real Impact: How Screen4Care Is Shaping Rare Disease Care in Europe

Every rare disease journey begins somewhere—but too often, diagnosis comes too late. On Rare Disease Day, we spoke with Prof. Alessandra Ferlini, Scientific Coordinator of Screen4Care and Professor at the University of Ferrara, about how genetic newborn screening could help change this reality. As the project’s screening programme expands across Europe, Prof. Ferlini reflects on the challenges of implementation, early progress so far, and the long-term impact early diagnosis could have for the rare disease community.

Prof. Ferlini, Rare Disease Day shines a light on both the unmet needs and the progress in rare diseases. Looking ahead to 2026, what do you see as the key challenges for the rare disease community, and which developments give you the most hope?

This is a crucial moment for people living with a rare disease. After years of remarkable advances in diagnostics and therapeutic development, we are now entering a phase where we must demonstrate real-world evidence, showing that the knowledge we have gained truly translates into better lives for patients and families.

This requires strong collaboration, shared commitment, and pragmatic strategies to ensure that innovation does not remain in research settings but becomes part of everyday clinical practice. What gives me hope is precisely this growing alignment across Europe: scientists, clinicians, policymakers and patient communities are increasingly working together to make early diagnosis and access to care a tangible reality.

Screen4Care has launched a genetic newborn screening campaign in several European countries. What makes this initiative different from existing newborn screening programmes?

Screen4Care is currently the only multinational newborn screening project operating across several European healthcare systems. This means working within different regulatory environments, health systems, and professional communities — a complexity that required the careful design of a robust clinical and genetic pipeline for neonatal enrolment.

What further distinguishes Screen4Care is its multitier approach, integrating advanced genomic technologies with digital health tools. This not only strengthens the quality of screening but also broadens its potential application within diverse healthcare programmes.

Newborn recruitment is expanding across Europe, with new clinical partners joining in recent months. What were the main challenges in setting up such an ambitious programme across different countries and healthcare systems?

In my experience, dialogue and commitment have been crucial. From the very beginning, I believed that Screen4Care should function as an open space, allowing additional Member States to participate and adapting to the specific contexts of different healthcare systems. We began newborn recruitment in three countries, with expansion to six EU Member States across 11 birth sites underway.. This expansion reflects the strong interest and shared commitment across Europe to advancing genetic newborn screening.

While the project will conclude in 2027, we are confident that Screen4Care has already contributed to shaping a new way of thinking about the implementation of genetic newborn screening at European level.

How is the genetic newborn screening progressing in practice? Could you briefly describe how data are being collected and analysed, and share any updates available at this stage?

A key decision was to centralise newborn sequencing in Rome at the Genomic Platform of Bambino Gesù Paediatric Hospital, while bioinformatic analysis is conducted by specialised partners in Barcelona and Amsterdam. This approach has reduced costs and turnaround time, and has allowed us to establish a standardised workflow that could be replicated and transferred into clinical practice. Blood samples are collected at birth centres using dedicated Screen4Care cards, registered through a secure software system, and then shipped for sequencing. The TREAT panel analyses 245 genes associated with rare diseases, and results are shared via a secure cloud platform with the participating centres. Data are carefully curated by experts using multiple in silico tools, and findings are communicated to families of infants with positive results through genetic counselling, either remotely or in person.

In addition, whole genome sequencing is offered to support early diagnosis in symptomatic infants, and a pilot newborn screening trial is planned. Close collaboration with the European Reference Networks ensures that infants with validated screening results are referred for a full diagnosis, standard of care, and access to available therapies.

To date, we have enrolled 6,433 babies, with sequencing completed for approximately 3,500 samples.

Looking beyond the project itself, what lasting impact do you hope Screen4Care will have on rare disease care and policy in Europe?

We are working closely with other similar initiatives, and Screen4Care is a funder member of the ICoNS network. The impact we aim to achieve is the establishment of a flexible but robust, validated and rigorous framework for genetic and genomic newborn screening in Europe. We also hope that our approach may be adopted by other countries interested in implementing similar models.

On Rare Disease Day, what message would you like to share with patients, families, and healthcare professionals across Europe?

Screen4Care represents both a scientific challenge and a long-term vision. We are aware that initiatives involving genomic technologies raise important questions, particularly regarding privacy, data governance and the psychological impact of early diagnosis. These are legitimate concerns, and from the beginning we have sought to address them through transparency, dialogue and inclusiveness. On behalf of our consortium, my message to patients, families and healthcare professionals on Rare Disease Day is an optimistic one: continue to believe in science, the benefits will follow.