Ethical, social and legal implications of genetic testing in liver disease


  • Dirk J. van Leeuwen,

    Corresponding author
    1. Section of Gastroenterology and Hepatology in the Department of Medicine, Dartmouth Medical School/Dartmouth Hitchcock-Medical Center, Lebanon, NH
    • Section of Gastroenterology and Hepatology, One Medical Center Drive, Lebanon, NH 03756
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    • fax 603-650-5225

  • James L. Bernat

    1. Section of Neurology in the Department of Medicine, Dartmouth Medical School/Dartmouth Hitchcock-Medical Center, Lebanon, NH
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  • Presented in part by b D.J. van Leeuwen at the AASLD Clinical Research Workshop “Investigating the Genetics of Liver Disease” directed by Drs. Edward L. Krawitt and Christopher P. Day during the meeting of the American Association for the Study of Liver Diseases (Digestive Disease Week 2005), Chicago, IL, May 14, 2005.

  • Potential conflict of interest: Nothing to report.


Advances in molecular genetics challenge the hepatology community to understand and implement genetic knowledge. Despite excitement about the potential benefits of new genetic information, concerns have been raised about the inappropriate use of genetic testing, clinicians' incorrect ordering and misinterpretation of test results, and discrimination in employment and insurability based on tests results. Among the public there is fear and mistrust, in part based on horrifying historical events that were gross violations of medical ethical standards. Clinicians, scientists, patient advocacy groups, and government agencies worldwide are debating the optimal legal protections to prevent abuse. In addition, these groups are developing clinical guidelines for optimal use. Traditional ethical and legal standards of confidentiality between physicians and their patients are under scrutiny. A new principle, “the duty to warn,” is emerging that has applications specific to genetic testing and may conflict with the duty to maintain patient confidentiality. Emerging ethical, legal, and social issues involve the appropriate use and protection of confidential data in tissue and serum banks. Education of the profession and the public at many levels will increase the likelihood that the unraveling of the human genome will maximally benefit society. If fear of genetic testing can be alleviated, selection bias in research could be reduced. Professional and lay organizations concerned with liver disease should consider a more active role in the public and professional debate, and foster education at all levels. (HEPATOLOGY 2006;43: 1195–1201.)