Perspectives and limitations of whole exome based neonatal screening

Abstract

The main aim of neonatal screening is the identification of diseases in newborns period for urgent intervention. Screening tests were developed and introduced into practice to detect specific disease. Next-generation sequencing technologies have increased the possibility to detect genetic disorders in newborns without the manifestation. These approaches give a chance to start a treatment or correction of symptoms as early as possible. The review highlights the history of newborn screening and describes the existing experience of projects with next-generation sequencing methods. Some diseases were given as an example. In some cases, exome sequencing but not classical screening tests can detect the condition, demonstrating the relevance of further development and the introduction of genetic methods for an examination of newborns. Limitations of exome sequencing that need to be taken into account, ethical issues that arise in decision-making, and economic benefits of using exome sequencing in screening programs were described.

Keywords:newborn screening; next-generation sequencing; exome; genome

Funding. The work was carried out within the framework of state task No. 121092400060-5.

Conflict of interest. The authors confirmed that there is no conflict of interest to report.

Contribution. Writing of the text of the manuscript – Shubina Je., Pavlova N.S., Donnikov A.E. Trofimov D.Yu.; verification and approval of the manuscript – Shubina Je., Pavlova N.S., Donnikov A.E., Pomerantseva E.A., Trofimov D.Yu.

For citation Shubina Je., Pavlova N.S., Donnikov A.E., Pomerantseva E.A., Trofimov D.Yu. Perspectives and limitations of whole exome based neonatal screening. Neonatologiya: novosti, mneniya, obuchenie [Neonatology: News, Opinions, Training]. 2022; 10 (4): 40–6. DOI: https://doi.org/10.33029/2308-2402-2022-10-4-40-46 (in Russian)

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CHIEF EDITOR
CHIEF EDITOR
Degtyarev Dmitriy Nikolaevich
Doctor of Medical Sciences, Professor, Deputy Director for Scientific Research of the V.I. Kulakov Obstetrics, Gynecology and Perinatology National Medical Research Center of Ministry of Healthсаre of the Russian Federation, Head of the Chair of Neonatology at the Clinical Institute of Children's Health named after N.F. Filatov, I.M. Sechenov First Moscow State Medical University, Chairman of the Ethics Committee of the Russian Society of Neonatologists, Moscow, Russian Federation

ORCID iD 0000-0001-8975-2425

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