Response to the statement of the European Society of Human Genetics (12 June 2025) on “Newborn screening in Greece-time for openness and transparency”

FirstSteps: A Pilot Research Study, Not a National Screening Program

The FirstSteps initiative has been incorrectly described in some reports^[1],[2] as a nationwide newborn screening program. We wish to clarify that FirstSteps is a large pilot research study in full compliance with ethics, and GDPR requirements^[3].

While newborn biochemical screening has been one of the most successful public health measures globally in the past sixty years, the introduction of new technology platforms has increased the number of treatable genetic diseases that can be detected early. The implications from the use of new technology must be carefully evaluated before introduction in public health.

Aims of the Study

FirstSteps is designed to evaluate whether genomic newborn screening, offered in parallel with the existing state-run mandatory biochemical screening, can provide additional benefits. Specifically, the study will assess:

·        Equity: Equal access for all newborns, regardless of geography or socioeconomic background

·        Clinical Utility: Whether earlier genetic diagnosis improves care and outcomes

·        Financial Sustainability: If implementation could be supported responsibly within the national health system

Equity and the right of every child to the highest attainable standard of health (Convention on the Rights of the Child, 1989), must remain the guiding principles of any policy decisions regarding the introduction of newborn genomic screening, including the use of genomic sequencing. It is a matter of social justice, ensuring that no child is deprived of timely diagnosis and treatment because of geography, socioeconomic background, or lack of access. The well-established Wilson and Jungner criteria (WHO, 1968) should inform decisions related to the selection of diseases for genomic screening in newborns. At the same time, raising the level of genetic literacy of the public and health professionals is critical, since it shapes attitudes about privacy, autonomy, and trust in the use of genomic data.  In Greece newborn biochemical screening is already mandatory, reflecting a public health commitment to protect at-risk asymptomatic children. Whether genomic newborn screening should follow the same path is precisely the central question of FirstSteps, whose primary goal is to evaluate if such an expansion is ethically, clinically, and socially justified.

While most parents will not object to extending the scope of the existing programs by including additional diseases that are treatable, it is understandable that concerns arise regarding the storage, access, and secondary use of genomic information beyond initial screening purposes. Effective data governance through trusted public institutions, and ethics-approved research environments using a designated data steward can provide robust safeguards to address public concerns and protect the best interests of children. Ultimately, decisions about the timing and form of consent belong to the realm of public health. However, these decisions must be made transparently and supported by quality science.

At present, the number of genetic diseases for which effective treatments exist remains relatively small (approximately 750 conditions), leaving around 90% of rare genetic diseases without targeted therapies. Addressing this urgent gap will require sustained innovation, achievable only through strong partnerships between academia, public institutions, and the private sector. Well-regulated access to genomic data under strict safeguards and subject to personal data impact assessments can accelerate the discovery and development of affordable therapies. Properly structured data governance can thus balance privacy, ethical responsibility, and innovation, ensuring long-term benefits for children and society alike. The subsequent development and application of effective and affordable treatments will require productive collaboration with the commercial and private sectors. Effective demonstrations of how to rapidly introduce new therapies while respecting privacy, and public health concerns are known and key to the success of research programs like FirstSteps.

FirstSteps  is a responsible, research-based initiative whose only purpose is to generate the evidence required to assess whether genomic newborn screening should be considered for broader implementation in the future.

^[1] https://www.reportersunited.gr/16145/adonis-georgiadis-dna/ [reportersunited.gr] the Agreement , in Greek https://www.documentcloud.org/documents/25893844-programmatike-sumbase-up-ugeias-me-realgenix-beginnings/ [documentcloud.org]

^[2] Parliamentary question - E-001681/2025 Privatisation of preventive screening 25.4.2025 https://www.europarl.europa.eu/doceo/document/E-10-2025-001681_EN.html

^[3] Parliamentary question -E-001681/2025(ASW) Answer given by Mr McGrath on behalf of the European Commission 19.6.2025https://www.europarl.europa.eu/doceo/document/E-10-2025-001681-ASW_EN.html