The Present and Future of Genetic Sequencing as Applied to Diagnosis and Management in Rheumatology

The past decade has witnessed a revolution in applying knowledge gleaned from genetic sequencing to the diagnosis and management of patients with immune-mediated rheumatologic conditions.Increasingly, genetic sequencing is proving useful in the field of rheumatology but uptake in clinical practice has been modest relative to the potential benefits of such testing.In this article, we outline the present and future applications of genetic sequencing to rheumatologic care and argue for why this tool should become a consistent item in the "black bag" of the practicing clinician. What is the Present Role of Genetic Sequencing in Rheumatology Practice?Genetic sequencing has become indispensable in diagnosing monogenic diseases in both pediatric and adult patients.Inborn errors of immunity (IEIs), caused by germline genetic variants, represent a diverse group of nearly 500 monogenic diseases that can produce a broad spectrum of immune dysregulation, including immunodeficiency, autoimmunity, autoinflammation, allergic conditions, lymphoproliferation, and malignancies. 1Current classification systems approach IEI with two parallel taxonomies: a clinical/phenotypic system