4.8 Review

The promise of precision medicine in rheumatology

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NATURE MEDICINE
卷 28, 期 7, 页码 1363-1371

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NATURE PORTFOLIO
DOI: 10.1038/s41591-022-01880-6

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  1. NIH [P30AR073750, U54GM104938, UC2AR081032, UM1AI144292]

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Precision medicine for rheumatic diseases is still in its early stages, but recent advancements have allowed for comprehensive profiling and mechanistic insights. The individualization of treatment based on underlying pathogenic mechanisms is the ultimate goal in caring for systemic autoimmune rheumatic diseases (SARDs). While current strategies such as treat-to-target therapies and autoantibody testing are not optimal, innovations in high-throughput 'omic' technologies have the potential to improve outcomes and identify new treatment pathways. However, there are numerous challenges in translating these findings into clinical practice.
Precision medicine for rheumatic diseases is still in its infancy, but recent advances are enabling comprehensive profiling and mechanistic insights. This Review outlines the progress, promises, and challenges of translating these findings into the clinic. Systemic autoimmune rheumatic diseases (SARDs) exhibit extensive heterogeneity in clinical presentation, disease course, and treatment response. Therefore, precision medicine - whereby treatment is tailored according to the underlying pathogenic mechanisms of an individual patient at a specific time - represents the 'holy grail' in SARD clinical care. Current strategies include treat-to-target therapies and autoantibody testing for patient stratification; however, these are far from optimal. Recent innovations in high-throughput 'omic' technologies are now enabling comprehensive profiling at multiple levels, helping to identify subgroups of patients who may taper off potentially toxic medications or better respond to current molecular targeted therapies. Such advances may help to optimize outcomes and identify new pathways for treatment, but there are many challenges along the path towards clinical translation. In this Review, we discuss recent efforts to dissect cellular and molecular heterogeneity across multiple SARDs and future directions for implementing stratification approaches for SARD treatment in the clinic.

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