medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLCmedgen-329Research ArticleНАУЧНЫЕ ОБЗОРЫREVIEWМассовый скрининг на наследственные болезни: ключевые вопросыNewborn screening for inherited metabolic diseases: key issuesЗахароваЕ. Ю.ZakharovaE. Yu.labnbo@yandex.ruИжевскаяВ. Л.IzhevskayaV. L.noemail@neicon.ruБайдаковаГ. В.BaydakovaG. V.noemail@neicon.ruИвановаТ. А.IvanovaT. A.noemail@neicon.ruЧумаковаО. В.ChumakovaO. V.noemail@neicon.ruКуцевС. И.KutsevS. I.noemail@neicon.ruФГБНУ Медико-генетический научный центрРоссияResearch Center for Medical GeneticsRussian FederationМинистерство Здравоохранения Российской ФедерацииРоссияThe Ministry of health of the Russian FederationRussian Federation2017200220181610313Copyright © Захарова Е.Ю., Ижевская В.Л., Байдакова Г.В., Иванова Т.А., Чумакова О.В., Куцев С.И., 20182018Захарова Е.Ю., Ижевская В.Л., Байдакова Г.В., Иванова Т.А., Чумакова О.В., Куцев С.И.Zakharova E.Y., Izhevskaya V.L., Baydakova G.V., Ivanova T.A., Chumakova O.V., Kutsev S.I.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/329

Неонатальный скрининг важен для раннего выявления многих нарушений обмена веществ (НБО). Он направлен на скорейшую диагностику и лечение больных новорожденных, чтобы предотвратить развитие болезни, инвалидность и смертность, связанные с НБО. Программа скрининга включает в себя несколько важных частей: тестирование, обучение, контроль, диагностика, лечение, управление и оценка. Развитие лабораторных технологий, таких, как тандемная масс-спектрометрия (МС/МС), которая является более специфическим, чувствительным, надежным и всеобъемлющим методом, чем традиционные анализы, увеличило число генетических заболеваний, которые могут быть диагностированы при скрининге новорожденных. На сегодняшний день разные страны имеют разный перечень заболеваний, включенных в программу неонатального скрининга. Это связано с особенностями системы здравоохранения стран, имеющимися финансовыми ресурсами, активностью профессионального сообщества и социальной ориентированностью общества в целом. Главная задача при принятии программ скрининга - соблюсти баланс между количественными (число скринируемых заболеваний) и качественными (эффективность скрининга) показателями. В последние годы активно развиваются технологии обнаружения лизосомных болезней накопления методом МС/МС. Пилотные проекты разных стран показали эффективность этого метода. Они позволили уточнить частоту заболеваний и спектр мутаций. Сегодня широко обсуждается возможность включения тестов на лизосомные болезни накопления в массовый скрининг. Метод NGS, который позволяет относительно быстро искать мутации в большом числе генов, также оказался эффективным способом диагностики НБО. В настоящее время активно обсуждается перспектива внедрения NGS в программы неонатального скрининга, несмотря на то, что у данного метода имеются некоторые ограничения, такие, как сложность клинического анализа, интерпретации результатов, хранения данных секвенирования.

Newborn screening is important for the early detection of many metabolic disorders, aimed at the earliest possible diagnosis and treatment of affected newborns, to prevent the morbidity, mortality, and disabilities associated with an inherited metabolic disorder. Screening program includes several important parts testing, education, follow up, diagnosis, treatment, management, and evaluation. In recent times, advances in laboratory technology such as tandem mass spectrometry (MS/MS), which is more specific, sensitive, reliable, and comprehensive than traditional assays, has increased the number of genetic conditions that can be diagnosed through neonatal screening programs at birth. Today different countries have different list of diseases included in screening programs. This is due to the specifics of the health system of countries, the available financial resources, the activity of the professional community and the social orientation of society as a whole. The main task in the adoption of screening programs is to keep a balance between quantitative (number of screened diseases) and quality (screening efficiency) indicators. In recent years, with the help of tandem mass spectrometry, technologies for detection of lysosomal storage diseases have been actively developed. Pilot projects of different countries have shown the effectiveness of this method. They have made it possible to clarify the frequency of diseases and the range of mutations. So the possibility of incorporating LSD tests into mass screening is widely discussed today. The NGS method, which allows relatively quick search for mutations in a large number of genes, has also proved to be an effective way of diagnosing inherited metabolic diseases. The prospect of implementing NGS in NBS programs is actively discussed. This method has some problems, such as clinical analysis, interpretation of results, storage of sequencing data.

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