A Breakthrough in Genomic Newborn Screening for Rare Diseases: Screen4Care Publishes the TREAT Panel

With its latest publication in the Orphanet Journal of Rare Diseases, the EU-funded Screen4Care project has officially released findings from its innovative research on the TREAT panel—a groundbreaking tool designed to help shorten the time to diagnosis for rare diseases (RDs).

Co-developed by academic and industry partners in collaboration with patient experts, the TREAT panel harnesses the power of Next-Generation Sequencing (NGS) to identify treatable genetic conditions in newborns—particularly those not detectable at birth through standard biochemical tests but which are treatable if diagnosed early. The panel is now being tested in a pilot project involving approximately 18,000 newborns across Europe, contributing to bringing genomic newborn screening (gNBS) into public health practice.

Addressing the Rare Disease Diagnostic Odyssey

There are over 7,000 known rare diseases (RDs), with approximately 72% having a clear genetic cause and around 70% presenting in childhood. Due to limited awareness and the complexity of these conditions, patients often face a prolonged diagnostic journey—lasting nearly five years on average—and are frequently misdiagnosed or undergo unnecessary procedures.

Many of these diseases are progressive, and early diagnosis can significantly improve the effectiveness of emerging treatments, such as gene therapy, enzyme replacement, and targeted molecular therapies. The TREAT panel was developed to enable earlier and more accurate diagnoses—closing this diagnostic gap by identifying genetic conditions at birth, even before symptoms appear.

A Leap Beyond Traditional Screening

Conventional newborn screening relies on identifying protein or metabolic markers in dried blood spots (DBS), limiting the range of detectable conditions. The TREAT panel applies NGS directly to DBS samples, opening the door to identifying a broader array of conditions from birth.

To determine which diseases to include, Screen4Care developed rigorous inclusion criteria and used a semi-automated system to screen existing databases. This process, followed by expert review, resulted in a gene list highly aligned with those of other international gNBS programs, thus validating its robustness.

An International and Collaborative Effort

Within the Screen4Care project, the TREAT panel was developed through close collaboration among leading academic institutions—including the University of Freiburg (Germany), University of Ferrara, Bambino Gesù Hospital, Consorzio Futuro in Ricerca (Italy), and the Centro Nacional de Análisis Genómico (Spain)—together with industry partners such as Roche, Sanofi, Pfizer, Genoox, and Illumina. The initiative also involved the active participation of the patient advocacy organization EURORDIS – Rare Diseases Europe.

The TREAT panel is now being piloted in Italy, France, and Germany in a study involving approximately 18,000 newborns—one of the first international efforts to evaluate genomic newborn screening (gNBS) at this scale. “This pilot is more than a scientific milestone in our project—it’s a step toward transforming newborn care,” said Alessandra Ferlini, Scientific Coordinator of Screen4Care. “Our mission is to give families faster answers, earlier diagnoses, and real hope by timely access to therapies. With the TREAT panel, we move closer to a future where treatable rare diseases are identified at birth and managed effectively from the very start.”

About Screen4Care

Launched in October 2021, the collaborative Innovative Medicines Initiative (IMI 2 JU) project Screen4Care aims to provide an accelerated diagnosis framework for rare diseases by advancing newborn genetic screening and developing dedicated digital tools. The project brings together academic partners led by the University of Ferrara, industrial partners led by Pfizer, and small, and medium-sized enterprises and Big Pharma. EURORDIS complements the consortium to ensure the needs and preferences of the rare disease community guide progression of the project