The Other Side Of Genetic Testing Should You Know What Is Known? Part 1: Science is identifying markers for genetic diseases, but should everyone be tested and given the results? Mike Field ------------------ Staff Writer For nearly a decade, Jason Brandt has directed what is probably the largest study in the United States of the psychological and social consequences of presymptomatic testing for Huntington's disease. A professor of psychiatry and behavioral sciences in the School of Medicine, Brandt's work has led to new insights into the human coping mechanisms that come into play when individuals must confront developing a progressive, degenerative brain disease. In the process, the Hopkins program Brandt directs has helped create a protocol for one of the more alarming aspects of the revolution in medical genetics: the prospect that one day, with only a drop or two of blood, much of our medical futures may be revealed. Such genetic fortune-telling, potentially available even before birth, could contain information about everything from a tendency to depression or other psychiatric illnesses to a proclivity for certain kinds of cancer. "As more and more genetic markers are identified, you cannot help but worry that one day the prediction of many serious genetic diseases will become as simple as a home pregnancy test," Brandt said. "It's somewhat frightening to think what the practice of medicine will be like in the future if all these genetic diagnoses can be made through a kit you pick up at the local drugstore." The Huntington's test, which identifies those who have a single chromosomal mutation that inevitably leads to the disease, was made possible by the location of a genetic marker in 1983. "We began planning for a clinical test as soon as the DNA marker was discovered," Brandt said. "Huntington's is the first serious, ultimately fatal adult-onset disease for which we could offer a highly accurate genetic test," he said. "The difficulty came in the fact that such a test had never been available before. Who should take the test, and how should it be handled? These are not simple questions from the ethical and clinical side of things." Brandt and a group of geneticists, psychiatrists and medical ethicists worked on the issue for three years before Hopkins and Massachusetts General Hospital (where the gene marker was discovered) started offering the test in 1986. "The first thing we had to grapple with was, should we do this at all?" he said. With no cure and no treatment available, the test could not be expected to prolong or improve the lives of those affected with the disease. Nonetheless, the planning group quickly concluded there was no justification for withholding the test from those who wanted it. "Some people want this information for making important life decisions such as career choices and family planning," Brandt said. Ultimately, concluded the researchers, some people at risk would benefit from knowing. But how should the patient be told? And what kind of social and psychological responses could doctors expect from patients who have learned they are bound to come down with a fatal neurological disorder that typically begins around age 40 and kills most patients within 15 years of diagnosis? No one knew for sure. One significant aspect of Huntington's is that it is spread throughout the population. Unlike some hereditary diseases which tend to affect only certain ethnic or racial groups, Huntington's has been identified in men and women, rich and poor, European and non-European alike. Being hereditary, it tends to cluster in certain geographic locations related to family dispersal, but otherwise it gives researchers a broad representative base in which to examine the psychosocial issues arising from catastrophic medical diagnosis. In order to prepare individuals for the test, the Hopkins group devised a four-step process that educates test-takers about the nature and progression of the disease and tries to prepare them for some of the psychological and emotional responses they may encounter if they test positive. The protocol they devised has received considerable attention since then, and in 1992 the World Federation of Neurology used it as a model for developing guidelines to genetic testing. At the heart of the program is a steadfast refusal to put value on testing or not being tested. "We don't advocate that anyone be tested, nor do we try to discourage anyone who has made the decision," Brandt said. "And we also make it clear to people that they can back out at any time. We ask them to consider what this information will do to their marriages, their careers and their lives in general. The intent is to make absolutely sure they understand what a positive test will mean." Next: When genetic news is bad news, how will people react?
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