Application of Omics Analysis in the Clinical Practice and Research of Transthyretin Amyloidosis

Transthyretin amyloidosis (ATTR) is a progressive disease characterized by systemic deposition of transthyretin-derived amyloid. Although the recent advent of disease-modifying therapies has expanded treatment options, substantial unmet needs remain, such as understanding disease heterogeneity, predicting treatment response, and prognostic stratification. In this review, we highlight the current and emerging roles of omics technologies in both clinical and research settings of ATTR, including genomics and its integration with other modalities. Currently, omics technologies are applied in clinical settings for accurate disease typing. Clinical samples are utilized to identify risk factors beyond specific transthyretin variants via genomics and epigenomics and to discover promising biomarkers via proteomics. Accumulating findings from omics analyses using cell and animal models are also facilitating the elucidation of the complex pathology of ATTR. Nevertheless, the application of omics analysis in ATTR research is still developing. Moving forward, it is expected to play a central role in accumulating datasets, leveraging cutting-edge technologies, utilizing integrated multi-omics, and bridging basic and clinical research. These advancements are expected to further accelerate the implementation of next-generation therapeutic strategies and precision medicine.