Education and guidelines needed for genetic testing in liver disease

A new commentary on genetic testing suggests that professional organizations and physicians involved in liver diseases should be actively engaged in developing evidence-based genetic testing guidelines, community education programs, and clinical practice recommendations. Professional and popular understanding of assessing risks for genetic diseases has not kept pace with epidemiological and biomedical advances. Furthermore, misinterpretation of results poses clear dangers to individual human rights, patient management and research.

The commentary is published in the June 2006 issue of Hepatology, the official journal of the American Association for the Study of Liver Diseases (AASLD). Published by John Wiley & Sons, Inc., Hepatology is available online via Wiley InterScience at www.interscience.wiley.com/journal/hepatology.

Conventional medical ethics is based on doctor-patient confidentiality of existing medical conditions. That is, no medical information can be released by the physician unless required by law, including public health reporting requirements, or released with permission from the patient. With increasing epidemiological study of inherited diseases, an emergent ethical and legal principle, "the duty to warn," has been gaining acceptance in medical, labor management and legal circles. For example, medical malpractice suits in the U.S. have been won on this tenet and, though rare, people have been turned away from employment because of their test results.

The recent proliferation of inexpensive, commercial blood tests to identify disease-associated genes has made a powerful risk assessment tool accessible to physicians, employers, and individual patients. However, few necessarily understand its benefits and limitations to interpret the test results appropriately.

According to the authors of the commentary, Dirk J. van Leeuwen, M.D., Ph.D. and James L. Bernat, M.D. of the Dartmouth Medical School/Dartmouth Hitchcock-Medical Center in Lebanon, NH, the combination of availability, misunderstanding the genetic tests' limitations, and societal fears undermine patient benefits of testing. However, mistrust is not necessarily misplaced. Individuals and societies unhindered by ethical guidelines and driven by quasi-scientific prejudices have long used genetic traits to abuse, enslave, and commit genocide. Mistrust is so entrenched, that the U.S. Centers for Disease Control reports that 21 percent of potential research subjects refuse to donate blood or tissue for future medical research.

Sequencing the human genome has also changed the genetics debate from issues such as disease screening, individual discrimination, and group prejudice to include the ethics of gene manipulation, cloning, embryonic genetic diagnosis and gene banking.

At a more practical level, the authors ask, how different from other medically sensitive information, such as laboratory tests or diagnosis, is genetic data. "The novel feature of genetic information is the increased potential that the person carrying a specific gene (mutation) may develop a health problem that can be identified prior to any other test abnormality or clinical symptom," the authors write. It is this "potential" which is open to interpretation and misinterpretation. The authors add that "the disease manifestation (phenotypic expression, penetrance) is much less predictable than generally assumed."

To address these shortcomings in the science and society's understanding of the science, the authors propose that professional organizations, such as the AASLD, collaborate with patient advocacy groups, to develop and deliver comprehensible educational messages about genetic testing based on facts. "The impact of such an agenda could be considerable," they write. "Education on the applications of genetic information should start with a focus on current and future generations of scientists and clinicians," conclude Drs. van Leeuwen and Bernat. Ultimately, the target audience should not just be physicians and hospitals, but also the public at large.

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Article: "Ethical, Social and Legal Implications of Genetic Testing in Liver Disease," Dirk J. van Leeuwen, James L. Bernat, Hepatology; June 2006 (DOI: 10.1002/hep.21206).


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