The Astonishing, Sometimes Scary World of Genetic Testing

CosmopolitanGenetic 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.

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