Evidence map›Paper›PMID 37011712›Full record

ReviewJournal of hepatology2023

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

David H Chung, Melanie Zheng, Allen E Bale, Sílvia Vilarinho

Abstract readReview
In one paragraph

Review in Journal of hepatology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed.

  1. Genetic testing in liver diseases: Clinical applications.JHEP reports : innovation in hepatology · 2026
    Review
  2. Review
  3. Review
  4. Article
  5. Article
  6. Diagnostic Uptake of Targeted Sequencing in Adults With Steatotic Liver Disease and a Suspected Genetic Contribution.Liver international : official journal of the International Association for the Study of the Liver · 2025
    Article
  7. Article
  8. Genetics of liver disease in adults.Hepatology communications · 2024
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

David H ChungDepartment of Internal Medicine, Section of Digestive Diseases, Yale School of Medicine, New Haven, CT, USA.
Melanie ZhengDepartment of Internal Medicine, Section of Digestive Diseases, Yale School of Medicine, New Haven, CT, USA.
Allen E BaleDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.
Sílvia VilarinhoDepartment 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: silvia.vilarinho@yale.edu.

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
Short Term Research Training: Students in Health Professional SchoolsT35DK104689 · NIDDK · YALE UNIVERSITY · PI LLOYD G CANTLEY, Sarwat I Chaudhry · 2015 to 2026
$2.6M
Liver Pathobiology: insights through the lens of rare diseasesR01DK131033 · NIDDK · YALE UNIVERSITY · PI Silvia Vilarinho · 2022 to 2026
$2.4M
Deciphering the Genetic Basis of Portal HypertensionK08DK113109 · NIDDK · YALE UNIVERSITY · PI VILARINHO, SILVIA · 2018 to 2022
$851k
Doris Duke Charitable Foundation 2019081NCATS NIH HHS UL1 TR001863NIDDK NIH HHS K08 DK113109NIDDK NIH HHS R01 DK131033NIDDK NIH HHS T35 DK104689
6 · The paper itself

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.

Indexed as

GastroenterologyLiver DiseasesExome SequencingGenetic TestingGenomicsHumansgene-disease relationshipgenomic medicinegenotype-phenotype correlationmultidisciplinary boardnext generation sequencingundiagnosed liver diseasewhole-exome sequencing

Identifiers

PMID37011712
PMCPMC10523901

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.