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Updated: Jun 17, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Principles of clinical genetics for rheumatologists: clinical indications and interpretation of broad-based genetic
Renan Rodrigues Neves Ribeiro do Nascimento1, Caio Robledo D'Angioli Costa Quaio2, Christine Hsiaoyun Chung3
1Disciplina de Reumatologia, Universidade Federal de Sao Paulo, Escola Paulista de Medicina, Rua Otonis, 863, Sao Paulo, SP, 04025-002, Brazil.
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.
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