Omics-based biomarkers as useful tools in metabolic dysfunction-associated steatotic liver disease clinical practice: How far are we?

Abstract

Unmet needs exist in metabolic dysfunction-associated steatotic liver disease (MASLD) risk stratification. Our ability to identify patients with MASLD with advanced fibrosis and at higher risk for adverse outcomes is still limited. Incorporating novel biomarkers could represent a meaningful improvement to current risk predictors. With this aim, omics technologies have revolutionized the process of MASLD biomarker discovery over the past decades. While the research in this field is thriving, much of the publication has been haphazard, often using single-omics data and specimen sets of convenience, with many identified candidate biomarkers but lacking clinical validation and utility. If we incorporate these biomarkers to direct patients’ management, it should be considered that the roadmap for translating a newly discovered omics-based signature to an actual, analytically valid test useful in MASLD clinical practice is rigorous and, therefore, not easily accomplished. This article presents an overview of this area’s current state, the conceivable opportunities and challenges of omics-based laboratory diagnostics, and a roadmap for improving MASLD biomarker research.

Keywords: Metabolic dysfunction-associated steatotic liver disease; Non-alcoholic steatohepatitis; Biomarker; Risk stratification; Omics

Core Tip: Identifying patients with metabolic dysfunction-associated steatotic liver disease (MASLD) at higher risk for adverse outcomes is still a crucial clinical challenge. Novel and non-invasive screening, monitoring, and risk stratification methods are urgently needed. With this aim, omics technologies have revolutionized the process of MASLD biomarker discovery. Although many omics-based biomarkers were identified over the past decades, their translation into clinically useful tests that can guide management decisions has proven more difficult than expected. This review presents an overview of this area’s current state, the conceivable opportunities and challenges of omics-based laboratory diagnostics, and a roadmap for improving MASLD biomarker research.