Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.

IF 2.3 3区 医学 Q2 GENETICS & HEREDITY
Silvia Giovanella, Antonio Miguel Poyatos-Andújar, Maria Mar Aguila Garcia, Almudena Avila-Fernandez, Ana Bustamante-Aragonés, Carmen Ayuso, Antonio Percesepe, Davide Martorana, Maria Ferri, Alessandra Terracciano, Laura Massella, Johanna Chester, Francesca Testa, Giulia Ligabue, Marco Ferrarini, Dino Gibertoni, Gaetano Alfano, Elena Tenedini, Lucia Artuso, Marco Marino, Olga Calabrese, Enrico Tagliafico, Riccardo Magistroni
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引用次数: 0

Abstract

Chronic kidney disease (CKD) has a genetic origin in 10% of patients. The most effective and cost-beneficial genetic testing methodology is debated. A multicenter, retrospective analysis of 692 patients with panel genetic testing (44 genes) evaluated the diagnostic yield, independent predictors of genetic diagnoses, and clinical impact. Diagnostic variants identified totaled 252, resulting in a 36% yield. The highest yields were associated with cystic disease (49%). No diagnostic variants were identified in unknown CKD. Independent clinical predictors of diagnosis were clinical presentation, family history, and early disease onset. Genetic diagnoses confirmed clinical suspicion in 70%, defined the diagnosis in 23%, and altered clinical diagnosis in 7%. Despite study limitations, a 44 gene panel seems to have a similar diagnostic yield as larger panels and whole-exome sequencing (WES) approaches. Patient selection based on independent predictors of genetic diagnosis may further increase diagnostic yield and cost-effectiveness, especially useful in cost-restricted contexts.

肾脏疾病小遗传小组的诊断率和临床影响:一项多中心、回顾性的欧洲研究。
慢性肾脏疾病(CKD)在10%的患者中有遗传起源。最有效和最具成本效益的基因检测方法存在争议。一项多中心、回顾性分析692例患者进行了基因检测(44个基因),评估了诊断率、基因诊断的独立预测因子和临床影响。诊断变异共鉴定出252种,产率为36%。产率最高的是囊性疾病(49%)。未发现未知CKD的诊断变异。诊断的独立临床预测因子为临床表现、家族史和早期发病。遗传诊断证实临床怀疑的占70%,确定诊断的占23%,改变临床诊断的占7%。尽管研究存在局限性,但44个基因小组似乎与更大的小组和全外显子组测序(WES)方法具有相似的诊断率。基于遗传诊断的独立预测因子的患者选择可能进一步提高诊断率和成本效益,特别是在成本限制的情况下有用。
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来源期刊
Clinical Genetics
Clinical Genetics 医学-遗传学
CiteScore
6.50
自引率
0.00%
发文量
175
审稿时长
3-8 weeks
期刊介绍: Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
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