Nationwide Insights Into Genetic Testing Awareness, Availability, Utilization Challenges in Children With Chronic Kidney Diseases.

IF 0.7 4区医学 Q3 PEDIATRICS

Clinical Pediatrics Pub Date : 2025-10-05 DOI:10.1177/00099228251372712

Ibrahim Sandokji, Mohammad Shalaby, Hasan Aljefri, Layla Basheer, Khalid Alwadie, Jameela Kari

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引用次数: 0

Abstract

Background: Genetic testing identifies underlying causative mutations in many children with kidney diseases. However, several factors prevent the widespread implementation of this useful tool in clinical practice. We aim to evaluate the perception and current state of genetic testing utilization among pediatric nephrologists.

Methods: This study involved a nationwide survey including questions about the availability of genetic testing, perceptions, modalities, indications, and barriers to routine utilization in clinical practice.

Results: Forty pediatric nephrologists completed the survey. Over 60% of respondents reported that genetic testing services were available at their institutions and over 70% reported that whole exome sequencing was the most frequent genetic testing modality. Barriers to genetic testing were mostly financial or due to a lack of awareness among providers. Glomerulopathies, tubulopathies, and ciliopathies were the most common reasons for sending genetic samples.

Conclusion: Despite the availability at most centers, pediatric nephrologists face difficulties in interpreting genetic test results.

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慢性肾脏疾病儿童基因检测意识、可用性和使用挑战的全国性见解。

背景：基因检测确定了许多儿童肾脏疾病的潜在致病突变。然而，有几个因素阻碍了这一有用工具在临床实践中的广泛应用。我们的目的是评估认知和现状的基因检测利用儿科肾病学家。方法：本研究涉及一项全国性调查，包括基因检测的可获得性、认知、方式、适应症和临床实践中常规使用的障碍等问题。结果：40名儿科肾病专家完成了调查。超过60%的受访者报告说，他们的机构提供基因检测服务，超过70%的受访者报告说，全外显子组测序是最常见的基因检测方式。基因检测的障碍主要是由于资金或提供者缺乏意识。肾小球病、小管病和纤毛病是发送基因样本最常见的原因。结论：尽管大多数中心都有可用性，但儿科肾病学家在解释基因检测结果时面临困难。

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

Clinical Pediatrics 医学-小儿科

CiteScore

2.10

自引率

6.20%

发文量

189

审稿时长

3-8 weeks

期刊介绍： Clinical Pediatrics (CLP) a peer-reviewed monthly journal, is a must read for the busy pediatrician. CLP contains state-of-the-art, accurate, concise and down-to earth information on practical, everyday child care topics whether they are clinical, scientific, behavioral, educational, or ethical.