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IF 2.7 3区医学 Q1 PEDIATRICS

Pediatric Pulmonology Pub Date : 2025-04-01 DOI:10.1002/ppul.71073

Laura A Voss, Rebekah J Nevel, Jennifer A Wambach, Lawrence M Nogee, Robin R Deterding, Alicia M Casey, Michael G O'Connor, Daniel I Craven, Jane B Taylor, Gail H Deutsch, Jade B Tam-Williams, Lea C Steffes, Steven K Brennan, Maria T Santiago, Sara C Sadreameli, Andrea F Heras, Michael R Powers, Antonia P Popova, Manvi Bansal, Aaron Hamvas, William A Gower, Fernando Urrego, Lisa R Young

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引用次数: 0

摘要

简介儿童间质性肺病和弥漫性肺病（childhood interstitial and diffuse lung diseases，chILD）是一类多种多样的罕见疾病。确定病因对于治疗、预后和估计复发风险至关重要。本研究旨在评估加入美国 ChILD 国家登记处（一项多中心观察性研究）的受试者对基因检测的利用情况：方法：回顾并分析参与研究机构的基因数据与临床特征的关系：在 22 个中心登记的 609 名儿童中，55.5%（n = 338）的儿童进行了基因检测。基因检测结果呈阳性（诊断）的占 22.8%（样本数=77），呈阴性的占 60.7%（样本数=205），不确定的占 16.6%（样本数=56）。大多数检测是通过基因组（55.9%）进行的，其次是外显子组测序（ES）或全基因组测序（WGS）（26.9%）、单基因检测（24.6%）和/或染色体微阵列（11.8%）。在基因检测结果呈阳性（诊断性）的参与者中，大多数是通过基因面板（33.8%；n = 26）或单基因检测（32.5%；n = 25）确诊的。最常见的基因检测确诊结果是 SFTPC 相关表面活性物质代谢功能障碍。在 59 名未分级 ILD 的受试者中，只有 22% （n = 13）接受过 ES 或 WGS 检测，61% （n = 36）接受过面板检测，27% （n = 16）没有任何基因检测报告：结论：ChILD 登记处登记的婴儿和儿童对基因检测的利用率不一。结论：ChILD 登记处登记的婴儿和儿童对基因检测的利用率参差不齐，需要进一步努力为疑似 ILD 儿童制定基因检测建议。此外，对于病因不明确的肺部疾病患儿，有机会更广泛地利用 ES/WGS 和基因发现。

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Genetic Testing Utilization in the U.S. Registry for Childhood Interstitial and Diffuse Lung Diseases.

Introduction: Childhood interstitial and diffuse lung diseases (chILD) comprise a diverse group of rare disorders. Identifying the underlying cause is crucial for treatment, prognosis, and estimating recurrence risk. The objective of this study was to assess the utilization of genetic testing for subjects enrolled in the United States National Registry for ChILD, a multicenter observational study.

Methods: Genetic data from participating sites were reviewed and analyzed in relationship to clinical characteristics.

Results: Of 609 children enrolled from 22 centers, genetic testing was performed for 55.5% (n = 338). Genetic testing results were positive (diagnostic) for 22.8% (n = 77), negative for 60.7% (n = 205), and uncertain for 16.6% (n = 56). Most testing was performed through gene panels (55.9%), followed by exome sequencing (ES) or whole genome sequencing (WGS) (26.9%), single gene testing (24.6%), and/or chromosomal microarray (11.8%). For participants with positive (diagnostic) genetic testing results, the majority were diagnosed through gene panel (33.8%; n = 26) or single gene testing (32.5%; n = 25). The most common diagnosis confirmed by genetic testing was SFTPC-associated surfactant metabolism dysfunction. Of the 59 subjects with unclassified ILD, only 22% (n = 13) had undergone ES or WGS, 61% (n = 36) had received panel testing, and 27% (n = 16) did not have any genetic testing reported.

Conclusion: The utilization of genetic testing has been variable in infants and children enrolled in the ChILD Registry. Additional efforts are needed to develop genetic testing recommendations for children with suspected ILD. Furthermore, there is opportunity for broader utilization of ES/WGS and genetic discovery for children with lung disease of unclear etiology.

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来源期刊

Pediatric Pulmonology 医学-呼吸系统

CiteScore

6.00

自引率

12.90%

发文量

468

审稿时长

3-8 weeks

期刊介绍： Pediatric Pulmonology (PPUL) is the foremost global journal studying the respiratory system in disease and in health as it develops from intrauterine life though adolescence to adulthood. Combining explicit and informative analysis of clinical as well as basic scientific research, PPUL provides a look at the many facets of respiratory system disorders in infants and children, ranging from pathological anatomy, developmental issues, and pathophysiology to infectious disease, asthma, cystic fibrosis, and airborne toxins. Focused attention is given to the reporting of diagnostic and therapeutic methods for neonates, preschool children, and adolescents, the enduring effects of childhood respiratory diseases, and newly described infectious diseases. PPUL concentrates on subject matters of crucial interest to specialists preparing for the Pediatric Subspecialty Examinations in the United States and other countries. With its attentive coverage and extensive clinical data, this journal is a principle source for pediatricians in practice and in training and a must have for all pediatric pulmonologists.