Genetic testing in liver diseases: Clinical applications

Human genetics has long been a cornerstone to elucidate the molecular basis of disease. Completion of the human genome sequence, together with major technological advances, has dramatically reduced sequencing costs while increasing the scale, accuracy, and interpretability of genomic data. These developments have accelerated the clinical translation of genomic testing. Although genomic medicine has been most widely adopted in paediatrics, neurology, and oncology, its application in adult hepatology is expanding rapidly. This review synthesises the growing body of evidence supporting the use of genetic testing in the diagnosis and management of adults across a broad spectrum of liver diseases, including cholestatic disorders, unexplained hepatic steatosis, cryptogenic cirrhosis, idiopathic portal hypertension, and acute liver failure. We highlight high-yield learning points and actionable clinical insights relevant to real-world practice, and we emphasise the importance of specialised centres with expertise in genomic hepatology, including multidisciplinary Hepatology Genome Rounds. Finally, we present our perspective on the current state and near-term future of a liver-centred, integrative genomic ecosystem and its anticipated impact on the training and practice of hepatology.