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
{"title":"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。","authors":"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","doi":"10.1111/cge.70002","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":" ","pages":""},"PeriodicalIF":2.3000,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.\",\"authors\":\"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\",\"doi\":\"10.1111/cge.70002\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":10354,\"journal\":{\"name\":\"Clinical Genetics\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.3000,\"publicationDate\":\"2025-06-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1111/cge.70002\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/cge.70002","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.
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.
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