medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2023.09.40-46medgen-2362Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHОтношение матерей новорожденных к неонатальному полноэкзомному тестированию: результаты комбинированного исследованияAttitudes of newborns` mothers toward neonatal whole exome testing: results of a combined studyТрофимовД. Ю.TrofimovD. Yu.

117997, г. Москва, Россия, ул. Академика Опарина, д. 4

4, Akademika Oparina st., Moscow, 117997

СимЕ. Л.SimE. L.

117997, г. Москва, Россия, ул. Академика Опарина, д. 4

4, Akademika Oparina st., Moscow, 117997

ГребенщиковаЕ. Г.GrebenshchikovaE. G.

117997, г. Москва, Россия, ул. Островитянова, д. 1

1, Ostrovityanova st., Moscow, 117997

aika45@yandex.ruПомеранцеваЕ. А.PomerantsevaE. A.

117997, г. Москва, Россия, ул. Академика Опарина, д. 4

4, Akademika Oparina st., Moscow, 117997

ПавловаН. С.PavlovaN. S.

117997, г. Москва, Россия, ул. Академика Опарина, д. 4

4, Akademika Oparina st., Moscow, 117997

КоровкоА. И.KorovkoA. I.

117997, г. Москва, Россия, ул. Академика Опарина, д. 4

4, Akademika Oparina st., Moscow, 117997

БуяновскаяО. А.BuyanovskayaO. A.

117997, г. Москва, Россия, ул. Академика Опарина, д. 4

4, Akademika Oparina st., Moscow, 117997

ВасильевГ. С.VasilievG. S.

117997, г. Москва, Россия, ул. Академика Опарина, д. 4

4, Akademika Oparina st., Moscow, 117997

БольшаковаА. С.BolshakovaA. S.

117997, г. Москва, Россия, ул. Академика Опарина, д. 4

4, Akademika Oparina st., Moscow, 117997

ЗарецкаяН. В.ZaretskayaN. V.

117997, г. Москва, Россия, ул. Академика Опарина, д. 4

4, Akademika Oparina st., Moscow, 117997

ШубинаЕ. С.ShubinaE. S.

117997, г. Москва, Россия, ул. Академика Опарина, д. 4

4, Akademika Oparina st., Moscow, 117997

ФГБУ «Национальный медицинский исследовательский центр акушерства, гинекологии и перинатологии имени академика В.И. Кулакова» Минздрава РоссииРоссияNational Medical Research Center for Obstetrics, Gynecology and Perinatology named after academician V.I.KulakovRussian FederationФГАОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава РоссииРоссияN.I. Pirogov Russian National Research Medical UniversityRussian Federation2023071220232294046Copyright © Трофимов Д.Ю., Сим Е.Л., Гребенщикова Е.Г., Померанцева Е.А., Павлова Н.С., Коровко А.И., Буяновская О.А., Васильев Г.С., Большакова А.С., Зарецкая Н.В., Шубина Е.С., 20232023Трофимов Д.Ю., Сим Е.Л., Гребенщикова Е.Г., Померанцева Е.А., Павлова Н.С., Коровко А.И., Буяновская О.А., Васильев Г.С., Большакова А.С., Зарецкая Н.В., Шубина Е.С.Trofimov D.Y., Sim E.L., Grebenshchikova E.G., Pomerantseva E.A., Pavlova N.S., Korovko A.I., Buyanovskaya O.A., Vasiliev G.S., Bolshakova A.S., Zaretskaya N.V., Shubina E.S.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/2362

Представлены результаты комбинированного (смешанного) эмпирического исследования отношения матерей новорожденных к полноэкзомному неонатальному тестированию, реализованного в 2021-2022 гг. на базе ФГБУ «НМИЦ АГП им. В.И. Кулакова». Исследование включало анкетирование 328 женщин и проведение 31 полуструктурированного глубинного интервью. В результате исследования выявлен значительный интерес респондентов к неонатальному генетическому тестированию, который соотносится с высоким доверием научным знаниям в области медицинской генетики, достижениям и открытиям в области науки и технологий. Развитие и расширение программ генетического тестирования в неонатологии требует разработки разными специалистами критериев информирования с учетом степени риска, наличия лечения и других факторов. Также дальнейшего исследования требует оценка риска конкретных заболеваний, что позволит применять достижения генетики не только для диагностики и профилактики, но и для планирования семьи.

The article presents the results of a combined (mixed) empirical study of attitudes of newborns’ mothers’ toward whole exome testing in neonatology, conducted in 2021-2022 at the «National medical research center for obstetrics, gynecology and perinatology named after academician V.I. Kulakov». The study involved questionnaires of 328 women and 31 semi-structured in-depth interviews with some of them. The study revealed a significant interest of respondents in neonatal genetic testing, which correlates with high trust in scientific knowledge in the field of medical genetics, achievements and discoveries in the field of science and technology. The development and expansion of genetic testing programs in neonatology requires the formulation of informing criteria, taking into account the degree of risk, availability of treatment and other factors. Also, further research is required to assess the risk of specific diseases, which will make it possible to apply the achievements of genetics not only for diagnosis and prevention, but also for family planning.

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The authors declare that there are no conflicts of interest present.