In a free diagnosis of 500 genetic diseases with a drop of blood, 1000 infants in Greece will have the opportunity to undergo the “FirstSteps” study, in which the First University Obstetrics-Gynecology Clinic and the Second University Neonatology Clinic of Papageorgiou Hospital.

The Neonatal Genomic Screening Clinical Study, entitled “FirstSteps» aims to reduce the diagnostic odyssey, to improve the prognosis of people with rare genetic diseases and to save significant resources for the State

In 2020, 550 children with rare genetic diseases were born in Greeceaccording to a publication in the “Chreos Zois” magazine of the Papageorgiou hospital signed by: the clinical geneticist-pediatrician Athina Verberi, the gynecologist Eugenia Kapeti, the neonatology professor Elisavet Diamanti and the gynecology professor Grigorios Gribizis.

“People with rare genetic diseases and their families often undergo a diagnostic odyssey, which can last years or even decades until they receive their final diagnosis. The odyssey includes medical visits, tests, interventions and medication, which burden both the individual and social level, as well as the level of the health economy. Some of the genetic diseases of childhood are treatable if they are diagnosed in time, e.g. through screening programs that are universally applied to newborns after birth. Newborn screening has been a standard of care in the industrialized world for the past 50 years. The control is carried out by biochemical methods and includes from 2 to 35 diseases”is mentioned in the publication, among other things.

The “FirstSteps” study applies the method of sequencing the entire human genome (Whole Genome Sequencing) to a drop of blood, taken from the newborn’s heel in the first days of life. Following is an analysis of approximately 400 genes, associated with more than 500 genetic diseases. These are diseases that are potentially curable if they are diagnosed and treated in time (before symptoms appear) as stated in the publication. Treatment may include a simple dietary supplement, an oral medication, a special diet, or even gene therapy if available.

“Neonatal genomic screening aims to transition from treatment to prevention of genetic diseases (where this is possible) and is a prerequisite for the development, in the future, of Precision Medicine. Providing early diagnosis and treatment to newborns with genetic diseases has obvious benefits, both for the family and society, as well as for the health economy“, the publication states.

The study is part of a global initiative coordinated by UCSD – Rady Children’s Hospital (Rady Children’s Hospital, San Diego, USA) and aims to strengthen newborn screening, increasing the number of genetic diseases screened to more than 500. The study is under the auspices of the National Public Health Organization (EODY) and will be offered free of charge to at least 1,000 families in Greece in the coming months. The scientific director of the study is Petros Tsipouras, a medical geneticist in the USA and in Athens. In addition to the Papageorgiou Hospital, the Alexandra General Hospital in Athens and the Larissa University General Hospital are participating in the study. The processing of the samples will be carried out at the Institute of Applied Biosciences of the National Center for Research and Technological Development (Thermi Thessaloniki), with the Director of the Institute Kostas Stamatopoulos and Researcher Anastasia Hatzidimitriou in charge.