Hereditary Liver Diseases Genetic Testing

  • Benefits of Testing

    The Heritable Liver Diseases Genetic Testing Service at Cincinnati Children's provides answers to frequently asked questions about the benefits of genetic testing for heritable liver diseases.

    Which patients benefit from genetic testing?

    Genetic testing is most appropriate for individuals with intrahepatic cholestasis, manifesting neonatally or later, in which the etiology of the disorder is unknown.

    What do medical experts say about genetic testing for patients with cholestasis?

    Most cases of cholestatic jaundice are caused by biliary atresia or hepatitis. If these common causes of jaundice have been ruled out, there are a number of less common etiologies to consider. Determination of the underlying etiology of cholestasis in a particular patient may lead to fewer liver complications and improved outcomes overall, according to the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition (1). Finding a genetic cause for cholestasis can aid doctors in understanding the mechanism of disease and the prognosis. When the genetic information from many patients is compared in registries, these correlations could lay the foundation for better treatment strategies (2,3).

    1. Moyer V, Freese DK et al. J Ped Gastr Nutr 2004. 39:115-128.
    2. Balistreri WF, Bezerra JA. Clin Liver Dis 2006. 10: 27– 53.
    3. Balistreri, WF, Bezerra JA et al. Hepatology 2005 42(1):222-235.

    What are some of the major benefits of genetic testing?

    Genetic test results may provide:

    • Accurate determination of the etiology of the patient's jaundice
    • Reduction or elimination of further invasive and costly diagnostic tests
    • A basis for prognostic information about potential medical complications
    • Guidance regarding treatment and long-term medical management, particularly in young infants
    • Definitive information on which to base genetic counseling of families