Advancing diagnosis and management of liver disease in adults through exome sequencing
Open accessAbstract
BACKGROUND: Whole-exome sequencing (WES) is an effective tool for diagnosis in patients who remain undiagnosed despite a comprehensive clinical work-up. While WES is being used increasingly in pediatrics and oncology, it remains underutilized in non-oncological adult medicine, including in patients with liver disease, in part based on the faulty premise that adults are unlikely to harbor rare genetic variants with large effect size. Here, we aim to assess the burden of rare genetic variants underlying liver disease in adults at two major tertiary referral academic medical centers. METHODS: WES analysis paired with comprehensive clinical evaluation was performed in fifty-two adult patients with liver disease of unknown etiology evaluated at two US tertiary academic health care centers. FINDINGS: Exome analysis uncovered a definitive or presumed diagnosis in 33% of patients (17/52) providing insight into their disease pathogenesis, with most of these patients (12/17) not having a known family history of liver disease. Our data shows that over two-thirds of undiagnosed liver disease patients attaining a genetic diagnosis were being evaluated for cholestasis or hepatic steatosis of unknown etiology. INTERPRETATION: This study reveals an underappreciated incidence and spectrum of genetic diseases presenting in adulthood and underscores the clinical value of incorporating exome sequencing in the evaluation and management of adults with liver disease of unknown etiology. FUNDING: S.V. is supported by the NIH/NIDDK (K08 DK113109 and R01 DK131033-01A1) and the Doris Duke Charitable Foundation Grant #2019081. This work was supported in part by NIH-funded Yale Liver Center, P30 DK34989.
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Using next generation sequencing, a refined diagnosis such as monogenic SLD can currently be reached in up to one-third of individuals.
“Using next generation sequencing (NGS), a re fi ned diagnosis ( e.g. monogenic SLD) can currently be reached in up to onethird of individuals. 208,210,212”
From EASL-EASD-EASO Clinical Practice Guidelines on the management of metabolic dysfunction-associated steatotic liver disease (MASLD). (2024) · cites this paper as [212]
The Results (WES yielded a definitive or presumed diagnosis; page not available) report monogenic diagnoses in 17 of 52 adults with unexplained liver disease, approximately one-third. Four of those diagnoses were in patients with hepatic steatosis, but the one-third figure applies to the full selected cohort, not specifically to individuals with SLD or individuals generally. (LLM, conf=0.84)
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Genetic study as a tool in the diagnosis of rare diseases with nonspecific hepatic manifestations
Gómez, N. C. I., Arnal, I. R., Álvarez, S. I., & Romero, R. G. (2025) · Gastroenterología y Hepatología (English Edition) · doi:10.1016/j.gastre.2025.502367
Differenzialdiagnostik der Cholestase bei Erwachsenen
Dröge, C., Berg, T., & Keitel-Anselmino, V. (2025) · Gastroenterologie up2date · doi:10.1055/a-2333-8987
Kekilli, S. B., Pekuz, Ö. K. K., Kekilli, A., Binicier, H. C., Uyar, S. B. Ş., Ozkan, E., Gülten, Z. A., Aydogan, A., Akarsu, M., Arslan, N., et al. (2026) · Human Molecular Genetics · doi:10.1093/hmg/ddag008
Bachmann, N., Schmidts, I., & Bergmann, C. (2026) · Die Gastroenterologie · doi:10.1007/s11377-026-00977-5
Genetic testing in liver diseases: Clinical applications
Keitel, V., Mentzinger, A., Dröge, C., & Vilarinho, S. (2026) · JHEP Reports · doi:10.1016/j.jhepr.2026.101902
Self-citationLiebe, R., Lammert, F., Schmidt, H. H., & Krawczyk, M. J. (2026) · Gut · doi:10.1136/gutjnl-2025-337027
Stratified Use of Genetic Testing in Liver Disease Improves Diagnostic Yield and Clinical Impact
Faini, A. C., Pinon, M., Prever, G. M. B. D., Romeo, C. M., Luca, M., Mioli, F., Saglia, C., Scolari, C., Carradori, T., Arruga, F., et al. (2026) · International Journal of Molecular Sciences · doi:10.3390/ijms27177906
- Authors
- Zheng, M., Hakim, A., Konkwo, C., Deaton, A. M., Ward, L. D., Silveira, M. G., Assis, D. N., Liapakis, A., Jaffe, A., Jiang, Z. G., Curry, M. P., Lai, M., Cho, M. H., Dykas, D., Bale, A., Mistry, P. K., & Vilarinho, S.
- Affiliations
- Yale University (US)
- Brigham and Women's Hospital (US)
- Alnylam Pharmaceuticals (United States) (US)
- Beth Israel Deaconess Medical Center (US)
- ORCID
- Venue
- EBioMedicine
- Publisher
- Elsevier BV
- Published
- 2023-09
- Volume
- 95
- Pages
- 104747
- ISSN
- 2352-3964 (ISSN-L)
- PMC
- PMC10433007
- OpenAlex
- W4385689207
- Cited by
- 34
- References
- 55
- Citations by year
- 2026: 7 · 2025: 15 · 2024: 12
- FWCI
- 5.64
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- EBioMedicine (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- National Institutes of Health (P30 DK34989)
- National Institute of Diabetes and Digestive and Kidney Diseases (K08 DK113109, R01 DK131033-01A1)
- Doris Duke Charitable Foundation
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Epidemiology › Liver Disease Diagnosis and Treatment
- Keywords
- liver disease, rare variants, exome sequencing, genetic diagnosis, cholestasis, hepatic steatosis
- MeSH terms
- Exome Sequencing, Adult, Child, Fatty Liver, Humans, Liver Diseases, Exome
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