FirstSteps changes newborn screening: 8 children avoided the diagnostic odyssey and began treatment thanks to genomic analysis

Athens, November 2025 — FirstSteps, the first Greek initiative for the implementation of neonatal genomic testing, has successfully completed the pilot phase (Phase 1) of the program, demonstrating that this process can be effectively implemented in collaboration with hospitals in the country and that Greece now has the experience to successfully implement complex population genomic studies.

The FirstSteps study was carried out in collaboration with three university hospitals (Alexandra General Hospital – Athens, National Hospital of Thessaly – Larissa, Papageorgiou General Hospital – Thessaloniki) and included 417 newborns whose parents gave informed consent. The aim was to evaluate the feasibility of neonatal genomic testing in the real conditions of the National Health System from sample collection to analysis and communication of results.

Main results:

• 385 genes were examined that are associated with 504 treatable genetic diseases that occur by the age of 10 years.
• To date, laboratory diagnosis has been confirmed in 23 children, of whom 8 have clinical symptoms for diseases such as G6PD deficiency, Hemophilia A (F8) and Cystic Fibrosis (CFTR). All 8 children have started treatment.
• Children identified with a genetic lesion avoided the “diagnostic odyssey”, a time-consuming and psychologically burdensome process that often delays the start of treatment.
• All families received an individualized report and genetic counseling.

The findings show that genomic analysis, which can detect ten times more diseases than current national biochemical newborn screening, paves the way for early diagnosis and therapeutic intervention for better health and quality of life.

Next steps

FirstSteps aims to gradually integrate genomic technology into preventive medicine. Phase 2, expected to begin in 2026, will expand to five hospitals and involve approximately 10,000 newborns, with the main goal of documenting clinical utility and creating an emblematic national infrastructure for the analysis of up to 100,000 samples per year.

“The completion of the first phase shows that genomic newborn screening can be reliably implemented in our country. The next step is to prove that it has real clinical value for children and their families,” said Professor Petros Tsipouras, Scientific Director of FirstSteps.

About FirstSteps

FirstSteps was launched in 2023 and is the first and only systematic Greek initiative of newborn genomic screening, approved by an ethics committee with the aim of investigating the implementation of newborn genomic screening in Greece. FirstSteps does not replace the classic biochemical newborn screening but complements it to identify additional diseases that are currently not detected. The process includes informed consent and full respect for personal data protection rules with encryption, and access control to genomic data.

The program was implemented in collaboration with:

• School of Medicine of the National University of Greece – “Alexandra” Hospital
• University of Thessaly – University Hospital of Larissa
• Aristotle University of Thessaloniki – Papageorgiou General Hospital