Why FirstSteps is withdrawing from the Contract with the Ministry of Health for neonatal screening

FirstSteps announces the mutual consent termination of its Contract with the Ministry of Health, which aimed to provide scientific and technical support to the State in its free pilot research program for the detection of rare genetic diseases in children born today.

In 2020, 550 children were born in Greece with rare genetic diseases. Some of the genetic diseases of childhood are treatable, if diagnosed in time. Preventive newborn screening has been a standard of care in the industrialized world for the last 50 years. The number of genes tested in each country currently ranges from 2 to 70. In Greece, 4 are tested.

The FirstSteps program is an innovative method of enhancing neonatal screening, increasing the number of genetic diseases investigated to more than 500. It applies the whole human genome sequencing (WGS) method from a drop of blood, taken from the heel of the newborn in the first days of life. It is part of an international research effort by scientists aiming to evaluate whole genome sequencing as a complementary method for the early detection of rare genetic diseases.

The FirstSteps research began its first pilot phase in 2023, with the participation of families from all over Greece, under the auspices of the National Public Health Organization (EODY) and the collaboration of the Alexandra (Athens), Papageorgiou (Thessaloniki) and Larissa University General Hospital hospitals. The results of this pilot program are expected to be announced at a scientific conference in October 2025. A second and third pilot research phase is planned that will require the analysis of the genome of a significantly larger number of newborns.

It is obvious that such a significant research effort cannot be implemented without the regulatory control, ethical requirements and bioethical principles guaranteed by the Ministry of Health, with the parallel collaboration of the competent public health institutions.

This is exactly what the FirstSteps program sought and these clauses were defined in our Contract with the Ministry of Health.

However, the implementation of this scientifically ambitious and necessary pilot research effort encountered obstacles. Specifically, the expected participation of the Institute of Child Health — as explicitly provided for in the Contract — did not materialize in practice. The absence of not only operational cooperation, but also dialogue with one of the key institutional partners resulted in the inability to launch the project.

At the same time, in an environment of often confusing public debate, with reasonable concerns and misunderstandings, it was judged that FirstSteps cannot at this stage proceed with the cooperation of the Ministry of Health as it does not want to deviate from its purpose by facing mostly one-sided bad publicity on a daily basis.

For these reasons, FirstSteps is withdrawing from its contractual relationship with the State. Our priority is to discuss many of the legitimate and practical questions raised in the public debate, always with a view to scientific accuracy and the inherent social nature of the program. Subsequently, after the above issues have been discussed with the interested parties, we will return to discussions with the competent bodies.

Finally, we must warmly thank the Minister of Health, Mr. Adonis Georgiadis and his colleagues for the trust and support they have shown in our research.