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Hepatology Genome Rounds: An interdisciplinary approach to integrate genomic data into clinical practice.

Authors
  • Chung, David H1
  • Zheng, Melanie1
  • Bale, Allen E2
  • Vilarinho, Sílvia3
  • 1 Department of Internal Medicine, Section of Digestive Diseases, Yale School of Medicine, New Haven, CT, USA.
  • 2 Department of Genetics, Yale School of Medicine, New Haven, CT, USA.
  • 3 Department of Internal Medicine, Section of Digestive Diseases, Yale School of Medicine, New Haven, CT, USA; Department of Pathology, Yale School of Medicine, New Haven, CT, USA. Electronic address: [email protected].
Type
Published Article
Journal
Journal of hepatology
Publication Date
Oct 01, 2023
Volume
79
Issue
4
Pages
1065–1071
Identifiers
DOI: 10.1016/j.jhep.2023.03.030
PMID: 37011712
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

In the last decade, the utility of whole-exome sequencing in uncovering genetic aetiologies of a variety of liver diseases has been demonstrated. These new diagnoses have guided the management, treatment, and prognostication of previously undiagnosed patients, largely thanks to improved insight into the underlying pathogenesis of their conditions. Despite its clear benefits, the uptake of genetic testing by hepatologists has been limited, in part due to limited prior genetic training and/or opportunities for continuing education. Herein, we show that Hepatology Genome Rounds, an interdisciplinary forum highlighting hepatology cases of clinical interest and educational value, are an important venue for integrating genotypic and phenotypic information to enable accurate diagnosis and appropriate management, dissemination of genomic knowledge within the field of hepatology, and ongoing education to providers and trainees in genomic medicine. We describe our single-centre experience and discuss practical considerations for clinicians interested in launching such a series. We foresee that this format will be adopted at other institutions and by additional specialties, with the aim of further incorporating genomic information into clinical medicine. Copyright © 2023 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.

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