Liver Lineup: Navigating Genetic Testing in Cholestatic Liver Disease

About this episode

This episode discusses the role of genetic testing in cholestatic liver disease with expert guests.

In this episode of Liver Lineup, hosts Nancy Reau, MD, and Kimberly Brown, MD, are joined by Saul Karpen, MD, PhD, and Robert Gish, MD, for a practical, clinician-focused discussion on the evolving role of genetic testing in cholestatic liver disease. As genetic panels become more widely used in hepatology, many clinicians are left wondering when to order these tests—and how to interpret the results when they come back. From unexplained cholestasis and AMA-negative PBC to intrahepatic cholestasis of pregnancy and atypical liver enzyme patterns, the conversation explores where genetic testing can add real clinical value. Karpen and Gish break down the basics of modern genetic panels, including how they’ve evolved over time, what clinicians should look for in results, and how to approach common challenges like variants of uncertain significance (VUS). The discussion also highlights key genes, such as ABCB4 and ABCB11, and explains how genetic findings can influence diagnosis, risk assessment, and treatment decisions. Read more: https://www.hcplive.com/view/liver-lineup-navigating-genetic-testing-in-cholestatic-liver-disease

People in this episode

Hosts: Nancy Reau, Kimberly Brown

Guests: Saul Karpen Md Phd, Robert Gish Md

Topics covered

• genetic testing
• cholestatic liver disease
• hepatology
• clinical value
• diagnosis
• risk assessment

Keywords

• genetic panels
• cholestasis
• AMA-negative PBC
• intrahepatic cholestasis of pregnancy
• atypical liver enzyme patterns
• variants of uncertain significance
• ABCB4
• ABCB11

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