FirstSteps' position on the letter of 195 scientists

Following the publication of an open letter by a group of scientists expressing reservations about the FirstSteps research project, the project team submits a documented response to the points raised.

The response clearly highlights:

The research nature and legal basis of the project.

The provisions for the protection of personal data and the absence of commercial exploitation.

The participation of the IYP and public hospitals.

The international good practices followed.

FirstSteps is a pioneering Greek public health and scientific innovation initiative, aiming to study the feasibility and clinical utility of genomic testing of newborns.

1. Lack of provision for free and revocable parental consent

Answer: The FirstSteps project is a pilot research project that will be implemented in full compliance with the General Data Protection Regulation (EU Regulation 2016/679–GDPR) and specifically in accordance with the exceptions of article 9, paragraph 2, which provides that informed parental consent is not required, because it is a public health research project and not a diagnostic procedure. However, if the results that will emerge from the implementation of the project support the universal establishment of genomic testing for babies born in Greece, the State will be called upon to formulate a policy for or against the requirement of informed parental consent.

2. Lack of clear statement that the program is of a research nature

Answer: It is clarified that FirstSteps is a pilot research program and does not constitute a medical procedure with a direct clinical purpose or diagnosis at an individual level. Article 4, 2nd Implementation Phase-par. 2 of the program agreement states that the aim of the project is to prepare a feasibility study on the clinical utility of genomic analysis in neonatal screening, without establishing it as a standard of care. Similar pilot programs are underway in many countries (BabySeq, GUARDIAN – 100,000 newborns, Generation Study – 100,000 newborns, BabyDetect2) in a purely research context. Initial findings from these studies have been published in scientific journals in the last six months [1],[2].

3. Lack of scientific evidence for protocols and interventions

Answer: Contrary to the view of the 195, the initial selection of diseases was strictly based on the WHO Wilson and Jungner criteria [3],[4]. The 510 diseases selected for neonatal screening present serious morbidity, manifest in childhood, have a distinct precursor stage, there is an available and acceptable treatment, and early intervention leads to a reversal of the course of the disease. The pilot program does not aim to fully report all genetic findings. The 9-month limit concerns an administrative provision for the return of findings that are deemed medically appropriate and is subject to review.

4. Lack of provisions for genetic counseling and support

Answer: Genetic counseling and medical follow-up in cases of positive findings are explicitly foreseen within the project and will be carried out through the collaborating public hospitals. The FirstSteps project does not burden the system, but contributes to the creation of infrastructure and data that can support future policies for genetic services. As with the existing biochemical testing, genetic counseling and support will be coordinated by the IYP.

5. Absence of public consultation and provision of a confidentiality clause

Answer: The implementation of the project has been presented at scientific conferences (e.g. Pediatric Society of Northern Greece, 2023; 22nd Congress of the Hellenic Society of Perinatal Medicine, Athens 2023; EURORDIS, Brussels 2024; International Conference of Newborn Sequencing, London 2023 and New York 2024; Cyprus Society of Human Genetics, Nicosia 2024). The first phase of the pilot program has been awarded by the Greek National Institute of Health and Human Development 2024. The project continues with institutional transparency. The confidentiality clause concerns the protection of commercially sensitive technological applications and innovations and does not limit scientific transparency or public scrutiny. The implementation of the project is under the supervision of the Monitoring Committee, which is under the Ministry of Health, as is the IYP.

6. Lack of institutional framework for the use of the population genome

Answer: The FirstSteps program does not create a national DNA database nor does it seek a complete population genome analysis. The data are pseudonymized and subject to strict access and use controls, for the sole purpose of statistical analysis and population documentation for public health.

7. Lack of procedures for residual samples and data

Answer: Residual DNA samples will be destroyed after the analysis is completed, as explicitly stated in the contract. Sample storage or the creation of a “biobank” is not envisaged. All results are stored with multiple levels of encryption and with policies that prevent identification or unauthorized access.

8. Absence of independent opinion from competent committees

Answer: The project is controlled by the Public Health Directorate of the Ministry of Health, while a full Data Protection Impact Assessment (DPIA) will be submitted before the start of operation of the laboratory, as provided for in the program contract. The opinion from the National Bioethics Committee or the National Bioethics Committee is advisory by law at this stage, but is desirable and has been requested.

9. Undermining the IYP and the Preventive Newborn Screening

Answer: The FirstSteps project does not replace the EPPEN, nor does it interfere with the responsibilities of the IYP. The IYP continues to be responsible for collecting samples and informing parents. The collaboration between the FirstSteps program and the IYP will strengthen public health by complementing the existing neonatal screening system from 4 to 510 diseases.

10. Lack of transparency in funding and compensation

Answer: The funding of the program is done with the participation of charitable and private entities, exclusively for research and development purposes. No compensation is provided. On the contrary, the contract ensures the non-grant of exclusivity and the promotion of all genomic information to the IYP. The Ministry of Health maintains full access to the research results.

• [1] Ziegler et al., JAMA. doi:10.1001/jama2024.19662
• [2] Boemer et al., Nature Medicine. doi:10.1038/s41591-024-03465-x
• [3] Minten et al., Genetics in Medicine https://doi.org/10.1016/j.gim.2025.101443
• [4] Wilson JMG and Jugner G. Public Health Papers No. 34, WHO 1968