Renan Rodrigues Neves Ribeiro do Nascimento, Caio Robledo D'Angioli Costa Quaio, Christine Hsiaoyun Chung, Dewton de Moraes Vasconcelos, Flavio Roberto Sztajnbok, Nilton Salles Rosa Neto, Sandro Félix Perazzio
{"title":"Principles of clinical genetics for rheumatologists: clinical indications and interpretation of broad-based genetic testing.","authors":"Renan Rodrigues Neves Ribeiro do Nascimento, Caio Robledo D'Angioli Costa Quaio, Christine Hsiaoyun Chung, Dewton de Moraes Vasconcelos, Flavio Roberto Sztajnbok, Nilton Salles Rosa Neto, Sandro Félix Perazzio","doi":"10.1186/s42358-024-00400-z","DOIUrl":null,"url":null,"abstract":"<p><p>Advances in DNA sequencing technologies, especially next-generation sequencing (NGS), which is the basis for whole-exome sequencing (WES) and whole-genome sequencing (WGS), have profoundly transformed immune-mediated rheumatic disease diagnosis. Recently, substantial cost reductions have facilitated access to these diagnostic tools, expanded the capacity of molecular diagnostics and enabled the pursuit of precision medicine in rheumatology. Understanding the fundamental principles of genetics and diversity in genetic variant classification is a crucial milestone in rheumatology. However, despite the growing availability of DNA sequencing platforms, a significant number of autoinflammatory diseases (AIDs), neuromuscular disorders, hereditary collagen diseases, and monogenic bone diseases remain unsolved, and variants of uncertain significance (VUS) pose a formidable challenge to addressing these unmet needs in the coming decades. This article aims to provide an overview of the clinical indications and interpretation of comprehensive genetic testing in the medical field, addressing the related complexities and implications.</p>","PeriodicalId":2,"journal":{"name":"ACS Applied Bio Materials","volume":null,"pages":null},"PeriodicalIF":4.6000,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"ACS Applied Bio Materials","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s42358-024-00400-z","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MATERIALS SCIENCE, BIOMATERIALS","Score":null,"Total":0}
引用次数: 0
Abstract
Advances in DNA sequencing technologies, especially next-generation sequencing (NGS), which is the basis for whole-exome sequencing (WES) and whole-genome sequencing (WGS), have profoundly transformed immune-mediated rheumatic disease diagnosis. Recently, substantial cost reductions have facilitated access to these diagnostic tools, expanded the capacity of molecular diagnostics and enabled the pursuit of precision medicine in rheumatology. Understanding the fundamental principles of genetics and diversity in genetic variant classification is a crucial milestone in rheumatology. However, despite the growing availability of DNA sequencing platforms, a significant number of autoinflammatory diseases (AIDs), neuromuscular disorders, hereditary collagen diseases, and monogenic bone diseases remain unsolved, and variants of uncertain significance (VUS) pose a formidable challenge to addressing these unmet needs in the coming decades. This article aims to provide an overview of the clinical indications and interpretation of comprehensive genetic testing in the medical field, addressing the related complexities and implications.
DNA 测序技术的进步,尤其是作为全外显子组测序(WES)和全基因组测序(WGS)基础的下一代测序(NGS)技术的进步,深刻地改变了免疫介导的风湿病诊断。最近,成本的大幅降低促进了这些诊断工具的普及,扩大了分子诊断的能力,使风湿病学追求精准医疗成为可能。了解遗传学的基本原理和基因变异分类的多样性是风湿病学的一个重要里程碑。然而,尽管DNA测序平台的可用性不断提高,但仍有大量自身炎症性疾病(AID)、神经肌肉疾病、遗传性胶原病和单基因骨病尚未得到解决,而意义不确定的变异体(VUS)对未来几十年解决这些尚未满足的需求构成了严峻的挑战。本文旨在概述全面基因检测在医学领域的临床适应症和解释,探讨相关的复杂性和影响。