GENOME SEQUENCING IN NEWBORNS: NEW HORIZONS IN NEONATAL SCREENING IN UKRAINE

Viktoriia  Petrashenko; Andrii  Loboda; Olexandr  Smiyan; Iryna  Shkolna; Ihor  Zaitsev; Olena  Redko; Olena  Vasilyeva; Yuliya  Lendych

doi:10.21272/eumj.2025;13(3):848-856

Viktoriia Petrashenko Department of Pediatrics, Sumy State University, Sumy, Ukraine https://orcid.org/0000-0002-4648-8916
Andrii Loboda Department of Pediatrics, Sumy State University, Sumy, Ukraine https://orcid.org/0000-0002-5400-773X
Olexandr Smiyan Department of Pediatrics, Sumy State University, Sumy, Ukraine https://orcid.org/0000-0001-8225-0975
Iryna Shkolna Department of Pediatrics, Sumy State University, Sumy, Ukraine https://orcid.org/0000-0001-6756-0158
Ihor Zaitsev Department of Pediatrics, Sumy State University, Sumy, Ukraine https://orcid.org/0000-0002-8248-7216
Olena Redko Department of Pediatrics, Sumy State University, Sumy, Ukraine https://orcid.org/0000-0001-5501-829X
Olena Vasilyeva Department of Pediatrics, Sumy State University, Sumy, Ukraine https://orcid.org/0000-0003-4470-8740
Yuliya Lendych Sumy State University, Sumy, Ukraine https://orcid.org/0009-0003-5815-6577

DOI: https://doi.org/10.21272/eumj.2025;13(3):848-856

Keywords: neonatal screening, genome sequencing, whole genome sequencing, whole exome sequencing, hereditary diseases, rare diseases

Abstract

The rapid evolution of genomic technologies has fundamentally revolutionized the landscape of neonatal screening, offering unprecedented opportunities for the early detection of a wide range of hereditary and rare diseases. This transformative shift moves beyond traditional screening methods, which are often limited to a small number of conditions, to offer expansive diagnostic capabilities. Genome sequencing allows for the simultaneous analysis of hundreds, if not thousands, of genes, enabling the detection of a vast array of genetic disorders from a single test.

This article examines the current status and future prospects of integrating this advanced technology into neonatal screening programs, with a particular focus on the unique challenges and opportunities within the Ukrainian healthcare system. It provides a comprehensive overview of the clinical advantages, including the ability to provide early and precise diagnoses. This early insight is crucial for implementing personalized medical interventions and beginning targeted treatments immediately after birth, which can significantly improve health outcomes and the quality of life for affected children.

While the clinical benefits are immense, their implementation is not without significant ethical, legal, and social challenges. Key concerns include ensuring genuine informed consent, as parents must make complex decisions about their child's future genetic information, and guaranteeing comprehensive data privacy to protect highly sensitive genomic data from misuse. Furthermore, addressing equitable access is paramount to prevent the creation of a two-tiered system where only a privileged few can benefit from these life-saving technologies. Consequently, the advancement of the genetic component in neonatal screening must be accompanied by the establishment of a clear ethical and legal framework. This framework should not only address technical and clinical standards but also ensure a careful balance between the interests of the child, the parents, and society at large.

The article underscores the urgent need for a comprehensive regulatory framework, robust infrastructure development, and specialized medical education to support the responsible and effective use of genome sequencing in newborns. By analyzing international experience and highlighting current gaps in Ukrainian practice, the study provides a detailed roadmap for implementing genomic technologies to improve early diagnosis, reduce the burden of genetic diseases on families and the healthcare system, and ultimately align Ukraine's neonatal care with the global standards of precision medicine.

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GENOME SEQUENCING IN NEWBORNS: NEW HORIZONS IN NEONATAL SCREENING IN UKRAINE

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