Rapid Genome Sequencing Shows Diagnostic Utility in Infants With Congenital Heart Defects.

IF 6.1 2区医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS

Circulation: Genomic and Precision Medicine Pub Date : 2026-06-01 Epub Date: 2026-04-10 DOI:10.1161/CIRCGEN.125.005367

Matthew D Durbin, Lindsey R Helvaty, Alyx Posorske, Samuel X Zhang, Manyan Huang, Ming Li, Daniel Abreu, Korre Fairman, Gabrielle C Geddes, Benjamin M Helm, Benjamin J Landis, Alexis McEntire, Dana K Mitchell, Stephanie M Ware

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引用次数: 0

Abstract

Background: Congenital heart disease (CHD) is the most common birth defect and a leading cause of infant mortality. CHD often has a genetic cause, and recent studies demonstrate the utility of genetic testing. In clinical practice, genetic testing continues to evolve, and the incorporation of rapid genome sequencing (rGS) in CHD is a recent development that requires evaluation. Although smaller studies demonstrate the value of rGS, they also highlight the burden of results interpretation.

Methods: We analyzed genetic testing in CHD at 2 time points, in 2018 and from 2022 to 2023, across a change in clinical testing guidelines from chromosome microarray to rGS.

Results: In an analysis of 421 hospitalized infants with CHD, genetic testing was performed in 77.7%, and the rate was consistent across time and in all patient subtypes analyzed. There was a significant shift in testing modalities, where in 2018, chromosome microarray was the most common test performed, with diagnostic results for CHD in 14.3%, whereas in 2022 to 2023, rGS was the most frequent test performed, with results diagnostic for CHD in 16.9%. In addition, rGS identified 44% more unique genetic diagnoses than chromosome microarray.

Conclusions: This is the most extensive study to highlight the value of rGS in patients with CHD. These findings have important implications for CHD patient management.

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快速基因组测序显示婴儿先天性心脏缺陷的诊断效用。

背景：先天性心脏病（CHD）是最常见的出生缺陷，也是婴儿死亡的主要原因。冠心病通常有遗传原因，最近的研究证明了基因检测的实用性。在临床实践中，基因检测不断发展，将快速基因组测序（rGS）纳入冠心病是一项需要评估的最新发展。尽管规模较小的研究证明了rGS的价值，但它们也强调了结果解释的负担。方法：我们分析了2018年和2022年至2023年两个时间点的冠心病基因检测，跨越了从染色体微阵列到rGS的临床检测指南的变化。结果：在对421例住院冠心病患儿的分析中，77.7%的患者进行了基因检测，并且在所有分析的患者亚型中，这一比例是一致的。检测方式发生了重大变化，2018年，染色体微阵列是最常见的检测方法，诊断出冠心病的比例为14.3%，而2022年至2023年，rGS是最常见的检测方法，诊断出冠心病的比例为16.9%。此外，rGS鉴定出的独特遗传诊断比染色体微阵列多44%。结论：这是强调rGS在冠心病患者中的价值的最广泛的研究。这些发现对冠心病患者的管理具有重要意义。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Circulation: Genomic and Precision Medicine Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

9.20

自引率

5.40%

发文量

144

期刊介绍： Circulation: Genomic and Precision Medicine is a distinguished journal dedicated to advancing the frontiers of cardiovascular genomics and precision medicine. It publishes a diverse array of original research articles that delve into the genetic and molecular underpinnings of cardiovascular diseases. The journal's scope is broad, encompassing studies from human subjects to laboratory models, and from in vitro experiments to computational simulations. Circulation: Genomic and Precision Medicine is committed to publishing studies that have direct relevance to human cardiovascular biology and disease, with the ultimate goal of improving patient care and outcomes. The journal serves as a platform for researchers to share their groundbreaking work, fostering collaboration and innovation in the field of cardiovascular genomics and precision medicine.