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Cassandra’s Conundrum

Next time you visit the doctor, you may be asked whether you want to know which diseases you’re heir to: perhaps the same ones that killed your parents or grandparents—perhaps something entirely new. Now that we’ve sequenced approximately 30,000 human genes, medicine has been able to predict such possibilities. But do you want to know? Is your curiosity tempered by whether or not your disease is treatable? And if it is not currently treatable, how likely is it that new treatments will appear before you need them?

Huntington’s disease exemplifies the dilemma that occurs when individuals and families are caught between advancing technology and a therapeutic vacuum. In 1983, Huntington’s was the first genetic disorder localized through the use of DNA markers, and in certain families, presymptomatic testing then became possible. A decade later, the gene itself was isolated, and anyone could be tested. For the past 20 years, it has been possible to determine definitively that members of some families will die of a dreadful, inexorable, implacable unraveling of body and mind. Before the test was available, more than 80% of people with a genetic risk for Huntington’s wished to know their fate. Now that this possibility is no longer theoretical, fewer than 1% of people worldwide have selected testing.1

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Nancy S. Wexler; Copyright © 2004 Acumen Sciences, LLC, All Rights Reserved.
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1  Nance, M. et al. (1999) Trends in predictive and prenatal testing for Huntington’s disease, 1993–1999. American Journal of Human Genetics 65:A406.

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