GENETIC TESTING'S GROWING ABILITY TO PREDICT DISEASE
MAKES IT VITAL TO SOFTEN THE SHOCK OF
Seeing the Future
BY JILL SMOLOWE
uppose you are at risk of a genetic disease that threatens to
render you unrecognizable to yourself. Physically, you realize,
the disease will slowly erode your body to an incontinent mass
of uncontrollable jerks and twitches. Mentally, it will eat away
at your brain cells, impeding your ability to remember, pay
attention, reason. And emotionally, it will blacken your days
with irritability and all-consuming depression. Worst of all,
you know that the disease cannot be prevented or stalled,
arrested or cured. To learn that you have the offending gene is
to receive a virtual death sentence that leaves only two
questions unanswered: When will the nightmare begin? And how
long will your suffering last?
Do you really want to know if you have the disease? Are you sure
you want to know now, if the symptoms may not appear for
decades? Are you prepared to handle the potential consequences
of that knowledge?
Such thorny human concerns are at the heart of a pioneering
research effort that is bent on clinically identifying the
long-term emotional and social effects of early genetic testing.
Directed by neuropsychologist Jason Brandt of the Johns Hopkins
University School of Medicine, the project enlists the talents
of psychiatrists, psychologists, social workers, nurses,
geneticists and ethicists to track the consequences of testing
for the genetic mutation that causes deadly Huntington's
disease. The program, says Brandt, "is seeking to determine how
best to offer this test."
Though HD afflicts just 25,000 Americans, with 125,000 more at
risk, it illustrates the growing urgency to develop sound
genetic-testing practices. As medical researchers race toward
completing a map of the human genome, with its estimated 50,000
to 100,000 genes, they are discovering new genes, their role in
specific diseases, and new diagnostic tests--all at a
breathtaking pace. Within 30 years, researchers expect to be
able to produce a genetic "fingerprint" of an individual's
potential future health that will enable doctors to wage
pre-emptive battle. Already, testing before any symptoms appear
makes possible the early treatment of some breast and colon
cancers. Further down the line is the prospect of gene therapy,
in which modified genes are introduced into existing cells to
prevent or cure numerous diseases.
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