Genetic testing may reveal a quagmire of complex questions
The test results are in: You carry the gene for a hereditary liver disease, hemochromatosis, in which the body absorbs too much iron.
And so are the questions: Does having the gene mean that you will develop the disease? Since the disease is hereditary, do you or your doctor have a duty to warn your family members? Will you have to disclose this information the next time you apply for health insurance?
Realms: There are often more questions than answers when it comes to genetic testing, and the questions span the scientific, legal, social, and ethical realms. That's why "people need to have a very clear understanding of what purpose a test serves" before ordering it, says Dr. Dirk van Leeuwen, a liver specialist at DHMC. Van Leeuwen has coauthored a paper on the implications of genetic testing for Hepatology, the journal of the American Association for the Study of Liver Disease (AASLD).
Genetic testing has become increasingly common in hepatology and in medicine in general. Yet, as van Leeuwen discovered—with the assistance of his coauthor, Dr. James Bernat, a DHMC ethicist and neurologist—he and his colleagues were "only to a limited extent educated to really oversee the implications of all this genetic testing." So van Leeuwen and Bernat made several recommendations to the AASLD. They suggested the creation of guidelines for the use of genetic testing in clinical and research settings. And they called for better professional education in how to provide preand post-testing counseling, how to understand test results, and how to address privacy concerns.
There are many benefits from genetic testing and research for both individuals and society, but also many ethical and social concerns. For example, 21% of people surveyed by the Centers for Disease Control and Prevention said they were "unwilling under any circumstances to allow donation or storage of blood or tissue samples for current or future research," point out van Leeuwen and Bernat.
Research scandals such as the federally funded Tuskegee study, in which poor black males were denied effective treatment in order to study the natural history of syphilis, diminished public trust. And recent misuse of genetic tests by employers added to fears. Scientists, clinicians, and policy-makers must address society's concerns, says van Leeuwen, if the benefits of genetic testing are to be fully realized.
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