Purpose of review: Genomic analysis has rapidly become commonplace in the study and treatment of complex disease. Several recent studies of gene expression profiling in systemic sclerosis have demonstrated its value in diagnosis and illustrate the potential for this technique in prognostication, as well as the elucidation of the underlying pathogenesis.
Recent findings: Skin biopsies from patients with systemic sclerosis show robust changes in gene profile that precede clinically detectable involvement. Current results suggest that clinically indistinguishable subgroups may be identified with different pathogenesis and outcome. Expression profiling studies of animal models of systemic sclerosis and explanted fibroblasts have helped to reveal the utility and deficiencies of these surrogates in the study of systemic sclerosis.
Summary: Gene profiling is likely to provide valuable prognostic information in systemic sclerosis patients. Recent advances in sample collection and standardization of analysis mean that longitudinal collection of samples for gene profiling, even in small numbers of patients from different clinical centers, will contribute enormously to our understanding of the disease.