Johns Hopkins Gazette: April 29, 1996

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

     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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