Catherine
Dold
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The Astonishing, Sometimes
Scary
World of Genetic Testing
Cosmopolitan
Who among us hasn't wished for a crystal ball
that could peer into the future and reveal when we will fall in love or land
that dream job? But what if the crystal ball could tell you whether years
from now you might become seriously or even fatally ill? Would you still
want to know what the future might hold?
Carolyn Forrest and her sisters had to face that question not long ago.
The five siblings grew up knowing that cancer had clustered in their family.
Their grandmother died of ovarian cancer, their mother died of
a mysterious
sort of abdominal cancer, and many other women in their large Midwestern
family have also died of breast cancer. Most died young, in their forties or
fifties.
When the sisters grew up and began having children of their own, they took a
closer look at the family's medical history. What they learned was
frightening: It seemed clear there was a hereditary reason for all the
disease--that perhaps a cancer-causing gene was ravaging one generation
after another.
"We started to think, My God, are we going to see our kids graduate from
high school?" recalls Carolyn. No one could tell them which sister might
have the treasonous gene or whether such a gene even existed.
Then, two of the women, Sandra, thirty-two, and Denise, thirty-five, found
out they had breast cancer. Not long after, Carolyn and Paula, still healthy
at twenty-eight and thirty, decided to have their breasts removed before
disease could strike them too, as Barbara had done years earlier. They were
making plans to also have their ovaries removed, when each sister received a
letter. "At last," wrote a physician who was studying their family tree,
"scientists believe a single breast and ovarian cancer-causing gene does
exist." The doctor could now tell them who was a carrier. Did they still
want to know?
Ellen Nolan, twenty-five, a pediatrics nurse, recently had to ask herself
the same question. In her case, the outcome was potentially even more
devastating: A gene lurked in her family tree that causes Huntington's
disease (HD), an eventually fatal disorder marked by a profound loss of
physical and mental abilities. Symptoms can
be alleviated with treatment,
but there is no cure. She knew there was an even chance she'd inherited the
gene from her father, but she also knew the disease wasn't likely to show up
for several years. Ellen, who is married, always wanted lots of kids. Should
I have just one child and then be tested? she wondered. Or should she first
find out whether she could pass on a fatal gene?
Divining their futures is no longer wishful thinking for these women. Each
has made the difficult decision to consult a genetic counselor and find out
how her genes are likely to change her life. Within the next few years, we
may all have that same remarkable opportunity: We'll be invited to hear
whether we have genetic blemishes that could cause colon cancer,
Alzheimer's, or one of a thousand other afflictions.
In addition to practical concerns--should we go to graduate school, marry,
or have children?--the new era of genetic testing raises this frightening
question: Do we want strangers poking into our very private medical affairs?
Your insurance company would be only too happy to find out if you are likely
to become ill. It is only a matter of time, some people say, before we are
all found to have a preexisting condition that excludes us from coverage.
Will our fiancés soon be asking for premarital agreements that guarantee
genetic perfection? Will some of us be rejected as genetic wall-flowers with
whom no one wants to grow old or have children?
To Test or Not to Test
Our personalized genetic codes--the tens of thousands of genes in our cells
that we inherit from our parents at the moment of conception—determine
whether we have blue eyes or brown, blonde hair or red. Many of these genes
also control our health.
The ability to decode this information is not brand-new. Most of us are
familiar with prenatal genetic testing, which can reveal such problems as
Down's syndrome or Tay-Sachs disease. Making headlines now are many
discoveries of genes that cause illness only when we are well into
adulthood. In just the last few years, scientists have found genes linked to
more than two dozen diseases, including HD (which killed folk singer Woody
Guthrie), ALS (Lou Gehrig's disease), Alzheimer's, osteoporosis, colon
cancer, muscular dystrophy, and ALD, the disease in Lorenzo's Oil. Soon,
they expect to identify those responsible for high blood pressure and some
mental disorders. For some diseases, such as HD, presence of the gene means
inevitable affliction at some point in life. For others, carriers of the
gene have only a heightened risk. Women with the breast-cancer gene, for
example, have an 80 to 90 percent chance of developing the disease.
Eventually, scientists promise, knowing where genes lie will lead to
revolutionary new ways to prevent and treat the diseases they cause. But for
now, they can only predict our futures.
Would you want to know yours? Before it was possible to know who has the HD
gene, most people at risk said they would be tested. Yet when testing became
available, few went through with it. In a recent Time/CNN poll, half of all
healthy adults did not want to know what diseases they might suffer, the
other half did.
Genetic counselors, like Audrey Heimler, try to help people at risk of
inheriting a disease make that decision. "Most who are tested say they can't
deal with the uncertainty any longer," says Heimler, who specializes in
Huntington's disease. "Some need to know for practical reasons. They want to
make plans about children or careers. They have an urgent need to find out
what their future is, because it may be between now and age thirty-five, the
average age of onset."
Practical issues weighed heavily in Ellen Nolan's decision to be tested for
the HD gene. She had decided she couldn't chance passing the gene on to
children. She had also tried to imagine the scenario if she did have
children, and then became ill. "I didn't want my husband to have to take
care of me and a child," she says. And having seen the erratic behavior of
relatives with the disease, she says, "I didn't want to have fits of rage
around a small child and have to be locked up."
Ellen attended six months of counseling, and her desire to know her fate
grew stronger with each session. "I'd had a little glimmer of hope," Ellen
says, "but something deep inside said, 'I have it.'" Her premonition was
correct. "It was my husband's birthday," she says of the day she learned her
fate. "We went out to dinner, and I had a huge margarita, but it wasn't
enough!"
Ellen says she has accepted her fortune. Heimler's job is to anticipate who
might not be ready to handle such devastating news and to suggest a delay in
testing. "We screen out those at high risk for depression or suicide," she
says, recalling the case
of a young woman who was tested before counseling
guidelines were established. She was not ready, was hospitalized after
receiving the results, and has since suffered several depressions. Also not
ready for testing, recalls Heimler, was the young adopted woman who joyfully
located her birth mother, only to learn that her mother had Huntington's and
she too is at risk.
Many people decide they don't want to know. In the case of a terminal
disease, says Heimler, some prefer to hope they don't have the gene, rather
than anticipate the first signs of illness. Ellen's sister, Connie McCoy,
thirty, who is equally at risk of developing HD, has decided against
testing. "If it's going to happen, I'll find out eventually," says Connie, a
mother of two. "I'm afraid if I found out I had it, I would dwell on it and
wouldn't live my life. If there's no cure, there's no reason to test."
Watching her sister be tested also affected her decision. "I saw how
devastated the family was about her. It's like we're in mourning."
One good reason to test: Unlike Huntington's, many forms of cancer can be
detected and treated with the hope of a permanent cure. People who know
they're at high risk
of developing the disease can undergo frequent
screening to catch the disease early. Consequently, counselors specializing
in cancer risk say they see fewer cases of the "ostrich syndrome," as some
call it.
Overwhelming News
Carolyn Forrest and her sisters didn't hesitate to find out whether they had
the breast- and/or ovarian-cancer gene. "The unknown is more scary for us,"
says Carolyn. "We've watched women in our family die, and we will do
anything to save our lives." With gallows humor, she also jokes about her
more practical reasons: Should she and her husband make the trip to Hawaii
this year? Should she bother putting money in a pension account?
The sisters learned their genetic status by taking part in a study done by
Henry Lynch, a physician who specializes in hereditary cancer at Creighton
University in Omaha. The precise gene that predisposes women to these
cancers has not been found--it is the focus of an intense search--but its
approximate location was found in 1990, and it's now possible to see who in
a large "at-risk" family has the predisposition for carrying the gene. In
1992, Dr. Lynch wrote the sisters that he could now reveal who had inherited
this predisposition from their mother.
With a great sense of unease, the sisters gathered at a hotel with their
families. Dr. Lynch had already counseled them on what their results would
mean. Sandra and Denise knew they were carriers, having had cancer. Barbara
and Paula, both of whom had had their breasts removed, did not carry the
gene, Dr. Lynch told them. Carolyn, thirty-two, mother of two young boys,
was a carrier.
"I was totally blown away," says Carolyn. "Even though I had always assumed
I was
a carrier, the news was overwhelming."
Paula, who expected to be a carrier but wasn't, was equally shocked—and
saddened. "I was relieved, but I felt so bad for Carolyn that it
overshadowed any celebration I could have had."
Living With Your Results
While test results can be devastating, they are also the first step to
learning to live with disease. A study of people who were tested for the
Huntington's gene found that most--even those who learned disease was
inevitable--experienced a sense of relief. Not knowing can be equally
devastating. Ken Offit, M.D., director of clinical genetics at the Memorial
Sloan-Kettering Cancer Center, cites a study in which women who thought they
were at high risk for breast cancer were so distressed, they were unable to
do effective breast self-exams. One counselor tells of a young woman who was
so hesitant to learn about her chances of developing inherited breast cancer
that she insisted she be told "only good news." The counselor worked out a
way to explain her risk of disease in as gentle and positive a manner as
possible, omitting specific numbers that might scare her, but the woman
never came back.
Ellen Nolan hates her birthdays. They remind her, she says, that she is
another year closer to illness. But she has also gained an inner peace. "I
have more control over my emotions, because the uncertainty is gone," she
says. She and her husband have decided to enjoy themselves now, spending a
little more on vacations and clothes. Her husband assures her he is
committed to the marriage. But knowing he might outlive her, Ellen insisted
she have her tubes tied, rather than let him have a vasectomy.
The Forrest sisters also have no regrets. Carolyn says at first she spent a
lot of time thinking about her rogue gene and fearing what might happen, but
those thoughts have waned. She sees her doctor often and recently had her
ovaries removed.
Last summer, after much soul-searching, Carolyn had another baby--a girl.
"It breaks my heart to think she might have the gene," she sighs. "But I'm
not sorry my mother brought me into the world." Baby Katie will someday have
to make her own decision about being tested for the breast-cancer gene.
Paula, who had her breasts removed only to find out she was at no greater
risk for breast cancer than any other woman, also has no regrets. "I did
what was best for me at the time," she says simply. Other women in her
position say the same--even if the operation ultimately was unnecessary, it
was worth it to have had a few worry-free years.
Often there are repercussions to testing that reach far beyond knowing your
own fate.
A family member's decision to be tested for a gene might force
reluctant relatives to face up to something they have avoided for years,
causing family rifts. And negative results are not always a blessing. Some
10 percent of people who find out they don't have the HD gene have trouble
coping because they never figured on having much of a future. Many others
feel overwhelming guilt about brothers and sisters who weren't as lucky,
especially when, as happened in one family, the person who encouraged
everyone to be tested was the only one who didn't have the gene.
Privacy and Discrimination
A very serious concern: Someone other than your doctor or family will
discover your genetic status. Stories abound of genetic discrimination:
Thousands have been denied insurance or even the right to adopt a child once
test results escaped the confidence of a doctor-patient relationship. Many
young men and women, perfectly healthy now and perhaps forever, tell of
being denied jobs, promotions, admission to medical or law school. Young
executives, hoping to build careers, find themselves caught in "job
lock"
--stuck with one employer because a new insurer might refuse to cover a
child who has a genetic problem. In one case, an HMO threatened to withdraw
coverage for a woman's pregnancy and the child's eventual medical costs when
tests revealed the child would have cystic fibrosis. Rather than abort the
fetus, the woman and her husband threatened legal action. The HMO,
anticipating expensive litigation, backed down.
Premarital genetic screening is not yet widespread but it does occur. In a
New York City community of Orthodox Jews, teenagers are encouraged to be
tested for genes
for hereditary diseases. Prospective couples are then told
whether their genetic match could result in unhealthy children, leading many
to call off marriages. Premarital screening needn't even be so scientific.
Might your
future mother-in-law encourage her son to look elsewhere if she knew your
uncle had Huntington's?
Widespread testing could lead to the creation of a new social underclass,
the "asymptomatic ill," says Paul R. Billings, M.D., an expert on genetic
discrimination at the VA Medical Center in Palo Alto, California. "People
who now think of themselves as healthy will think of themselves as ill."
Right now, there are no national laws to prohibit genetic discrimination or
ensure the privacy of test results. But recently, a high-level panel of
scientists told Congress they had better pass laws to shield genetic
information from insurance companies and employers. If not done soon, the
panel warned, thousands more of us will face discrimination.
In the meantime, many people opt to pay for tests and health care
themselves, rather than tip off insurance companies. Most people who are
tested for the Huntington's disease gene choose that route, says Heimler.
Dr. Billings recommends finding out exactly who will have access to your
results and settling job and insurance needs before testing. He also
suggests informing testers in writing that they are not to share results
with anyone. And remember, says Heimler, it's your choice. You don't have to
be tested.
Sidebar: Just What Is Genetic Counseling?
Being tested for a genetic condition involves only a simple blood test.
Interpreting the results of your test--information that may alter your life
forever--is much more complex. A genetic counselor can help you navigate the
mysterious world of genetic medicine.
Counseling can be as simple as one educational session to chart a family
history of disease and explain a test, or it can involve more than a year of
meetings before and after testing. The counselor's job is not to steer
someone toward one decision or another but to "help them learn more about
themselves and their reasons for being tested," says Audrey Heimler.
Topics discussed might include: the basics of genetics and probabilities of
disease; health history and future concerns; treatment options;
relationships with loved ones; childbearing plans; fears about test results;
anxiety or depression; survivor guilt; and potential discrimination. In rare
cases, counselors may refer patients for psychological testing to see if
someone is truly ready for genetic testing.
For counselor referral, contact the National Society of Genetic Counselors,
in Wallingford, Pennsylvania. Depending on the number of sessions,
counseling can be expensive. It may be covered by insurance, but many choose
not to submit claims to avoid alerting insurers.
Sidebar: The Bright Side of Testing
Why are scientists in such a rush to find the genes that determine our
futures if this knowledge might cause only anguish? They are taking just the
first steps in the journey toward an entirely new era of medicine--treating
and preventing disease by fixing or replacing genes that don't work quite
right.
Several people have already been treated with experimental gene therapy.
Through various means, a normal version of their faulty gene has been
inserted in their bodies, where doctors hope it will take over the job its
defective counterpart failed to do. A young woman, whose genes caused her
cholesterol levels to rise so high that she had a heart attack at sixteen,
has seen her cholesterol levels drop dramatically after receiving normal
genes. Several children born with "bubble-boy" syndrome, an immune-system
problem, have received corrected copies of a gene, but it is too early to
say if they have been cured. Patients with cystic fibrosis, cancer, and a
few other diseases have also been treated with gene therapy.
The technology is still in its earliest stages. It is so new, in fact, that
the cholesterol-lowering therapy, the first to show benefits, has been
called the "Kitty Hawk" of gene therapy.
November 1994
Catherine Dold
PO Box 4424
Boulder, Colorado 80306
303-543-2390
11/11/02