1 . 2025

Chance findings in newborns genome sequencing: transformation of bioethics principles in the era of genomic technologies

Abstract

As genomic and exomic sequencing is introduced into medical practice, neonatologists, pediatricians, and geneticists are faced with the problem of how to treat the detection of accidental genetic findings in examined children, when and to what extent to report these findings to parents or other legal representatives of patients. Accidental findings are understood as genetic variants of clinical significance identified outside the target diagnostic request, including information about predisposition to endocrine, immunological, oncological, neurodegenerative and other serious diseases that manifest themselves both in childhood and adulthood.

The study analyzes the evolution of approaches to regulating information about accidental findings for medical purposes.

The concept of the “right not to know” is critically considered as a reflection of the autonomy of the patient or his representatives. Arguments against this concept include the interpersonal nature of genetic information, the potential harm of ignorance to a child’s relatives, and limited prevention options.

The concept of an “open future” proposed by philosopher Joel Feinberg, originally developed to protect the rights of a young child, is also being considered. Its influence on medical decision-making is analyzed in the context of informing patients (their parents) about random genetic findings.

As a working model of a dynamic approach to informed patient consent, a differentiated hierarchical system of medical information disclosure is proposed, allowing patients and their legal representatives to select categories of test results with the possibility of subsequent phased updating of consent, based on prioritization of random findings depending on their level of clinical significance.

The purpose of the work: to analyze the ethical problems associated with accidental findings during genome-wide or exome sequencing of newborns, and ways to overcome them; to critically analyze the bioethical concepts of “the right not to know” and “the right to an open future”; to develop solutions based on the dynamic informed consent model.

Material and methods. The research methodology included a systematic review of research on bioethics and medical genetics, and an analysis based on the principles of bioethics of proposed solutions. The recommendations of reputable international organizations such as the American College of Medical Genetics and Genomics (ACMG), the European Society of Human Genetics (ESHG) are considered.

Keywords: neonatal bioethics; genome and exome sequencing; random findings; “the right not to know”; “the right to an open future”; dynamic informed consent

Funding. The study had no sponsor support.

Conflict of interest. The authors declare no conflict of interest.

Contribution. Concept development, research – Filippova I.B.; text editing, approval of the final version of the article – Savvina O.V.

For citation: Filippova I.B., Savvina O.V. Chance findings in newborns genome sequencing: transformation of bioethics principles in the era of genomic technologies. Neonatologiya: novosti, mneniya, obuchenie [Neonatology: News, Opinions, Training]. 2025; 13 (1): 69–76. DOI: https://doi.org/10.33029/2308-2402-2025-13-1-69-76 (in Russian)

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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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