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Is there a disease in your future?

Genetic testing can predict illnesses, but many don't want to know


by: TRIBUNE PHOTO: JAIME VALDEZ - Seventeen-year-old Luke Hilger has been helping care for his mom, Amy, since she developed Huntingtons Disease when Luke was 12. Watching Amy decline, Luke has been confronted with a decision - whether he wants to take a test to determine if he will also develop the disease.Luke Hilger has been anticipating his 18th birthday for years, but not just for the usual reasons. Hilger has known since he was 12 years old that Huntington’s Disease runs in his family. He’s watched his mother steadily decline during the past five years, in the grip of what many in medicine believe to be among the body’s cruelest illnesses.

Huntington’s usually strikes people in their 40s. It causes nerve cells in the brain to break down. Sufferers lose control of their muscles and begin to twitch uncontrollably. Then they lose their ability to think. Eventually they develop depression and dementia. There is no cure.

There is a genetic test that will tell Hilger if he is destined to get Huntington’s. For the past five years, anxious about the possibility that he would suffer the same fate as his mother, Hilger was certain he wanted to take the test. But physicians, citing ethical considerations, told him he would have to wait until he was 18.

Hilger, who lives with his parents outside Salem, turns 18 in four months. He has attended national conferences for families of Huntington’s victims. He has looked for physical signs that he might be among those who get an early onset version of Huntington’s. And he has made a choice. He no longer wants to know his fate.

“The idea was, I had to know,” Hilger says. “I had to know because it’s going to help me sleep at night.”

by: TRIBUNE PHOTO: JAIME VALDEZ - More people are facing choices similar to Luke Hilgers - whether to learn which diseases they are likely to contract.  Psychologists say some people are better with knowing, and others better able to deal with uncertainty.But now, Hilger says, he’s figured out that for him, the stress of not knowing is more bearable than if he takes the test and discovers he will suffer as he has seen his mother suffer.

Three weeks ago, scientists announced a promising new blood test that experts say within 10 years should be available to predict who is going to get dementia-causing Alzheimer’s disease. Physicians can use a brain scan to detect amyloid plaque buildup that has been associated with Alzheimer’s. Though the amyloid test is far from refined as a predictive tool, neurologists such as Eran Klein at Oregon Health & Science University say they are getting more inquiries from patients who want the test. Patients want to know if they are going to get Alzheimer’s, even though the disease has no cure and there is little therapy to ease its brain-decaying symptoms.

Hilger and Klein’s fate-seeking patients are not medical oddities. They are, scientists and bioethicists say, a first wave that eventually could grow into a tsunami. As genetic testing and brain scanning become more widely used and better understood, most of us will have opportunities to know ahead of time what diseases we are likely to contract. The question is, will we want to? Only about one in five people with family histories of Huntington’s choose to take the genetic test that preoccupies Hilger.

“There’s this technological paradigm that more information is always better,” Klein says. “But sometimes more information just complicates.”

To test or not to test

Nancy Wexler, a geneticist who helped discover the Huntington’s gene, coined the phrase Tiresias Complex to describe the decision facing those who might have a test for a fatal illness for which there is no cure. In Greek mythology, Tiresias was a blind prophet reluctant to reveal to King Oedipus how and when the king would die. Tiresias felt such knowledge, without the power to change the future, could only lead to sorrow.

That depends on the person, says Robert Epstein, senior research psychologist at the American Institute for Behavioral Research and Technology and former editor-in-chief of Psychology Today. Epstein says people with what he describes as anxious or compulsive personalities, who seek a sense of control, will tend to get tested and those with more laid-back personalities won’t, regardless of what genetic counselors tell them in advance. And that might be the best scenario, he adds.

Some of us can live better with all kinds of uncertainty than others, Epstein says. His 87-year-old mother, he says, has for years told him when he calls that she only wants to hear good news. She’s settled into her personality type. He’s certain that, if she were younger, she would reject most testing unless there was a cure were she to test positive.

Epstein says the question of which is better for your health — to test or not to test — is not a simple one. A positive test for Alzheimer’s or Huntington’s might lead a patient to make lifestyle changes to improve his or her health. But there’s a similar argument to be made, he says, for not getting tested.

“Not knowing also has health benefits, because it may keep your anxiety level low,” Epstein says. “Knowing you are at risk or ill is stressful, and stress is brutal on the immune system.”

Epstein points to studies done years ago on people in the United States who live to be 100. “Pretty much the only thing they had in common was that they were very relaxed people,” he says.

OHSU neurologist Klein explains to patients that the available tests for Alzheimer’s are very imprecise. If a patient has no symptoms such as unexpected memory loss, he generally refuses a request for testing. Many who pass his screening, he says, decide against testing after those conversations.

But Klein published a study last year in which he surveyed neurologists around the country and found that more than eight in 10 said they would use a brain-imaging test for Alzheimer’s, despite the test’s inaccuracy.

by: TRIBUNE PHOTO: JAIME VALDEZ - Amy and Luke Hilger are dealing with Huntingtons Disease. Neurologists and genetic counselors say they are seeing more patients who want a test to determine if they are likely to suffer from Alzheimers Disease.

Health care trend

Most physicians don’t want to be bothered with predictive tests, says Dr. Jason Karlawish, who directs the Neurodegenerative Disease Ethics and Policy Program at the University of Pennsylvania Memory Center. “They’d rather take care of sick people, especially if there’s no interventions they can offer,” he says. And most insurers, he adds, won’t cover predictive testing for diseases that don’t have a cure or helpful therapy.

Besides, Karlawish says, even the most predictive tests such as the genetic test for Huntington’s are inexact. They don’t tell those who test positive when they will get the disease. One study of people learning they tested positive for a gene associated with Alzheimer’s, according to Karlawish, did not show significant numbers of them lapsing into long-term depression or becoming markedly anxious.

Karlawish has worked on studies of people who have to choose whether to take predictive tests. He says survivor’s guilt can be very real in a disease-affected family. “What we find are people who test negative feel just as bad as people who test positive for the gene,” he says.

Epstein sees predictive testing as part of a health care trend in which new technologies are used regardless of whether they are providing a benefit or not. In the past decade, centers offering profitable MRI body scans have proliferated, and a number of studies have shown that as a result, more people are getting the expensive scans, even though they may be of marginal benefit.

Epstein says predictive testing probably will be offered to patients who won’t benefit or may not be the right personality type to handle the results, simply because the technology will be available and the tests will be profitable.

Angry second spouses

by: COURTESY OF: NATIONAL INSTITUTES OF HEALTH - More than 80 percent of doctors said they would use brain scans to detect buildup of amyloid plaque (pictured) to detect Alzheimers Disease (AD). A new blood test holds even greater promise as an Alzheimers predictor.Beaverton resident Christy Turner owns a business called Dementia Care Management. She has worked with nearly 1,000 dementia patients and their families, helping them devise strategies to deal with Alzheimer’s and related diseases. She also has a family history of dementia: all of her biological grandparents have become demented. By her 30s, Turner says, she began to wonder if Alzheimer’s would hit her.

But as long as there’s no cure for Alzheimer’s, Turner says, she won’t get tested, no matter how accurate the testing may become. At 44, she’s convinced she would not live her life any differently if she found out today that she has only 10 capable years left rather than 40.

“If you’ve actually recognized the fact that you are human and therefore destructible, that you absolutely are going to die, make the plans, live life to the fullest,” Turner says.

Ironically, Turner says that as a health care professional she encourages clients who think they may be starting to see the first signs of dementia to get neuropsychological testing that can determine if their memory loss is greater than the norm for their age. “But mostly people don’t, because who wants to hear that news,” Turner says.

Given her work, Turner brings a unique perspective to the question of knowing vs. not knowing. Getting a positive test for any future disease, she says, opens a door into the world of medical care that can’t easily be closed again. For those with diseases that have no cure, entering that world, in some cases, can do more harm than good, she believes.

“We are really programmed, socialized,” Turner says. “You go to the doctor. That’s being responsible. You get your preventive testing. That’s just what you do as a responsible adult. We don’t necessarily think through the consequences of that.”

Turner says she’s concerned about women with dementia in their 80s getting mammograms that show a mass, and then being led down a path of decisions on biopsies, surgery and even chemotherapy. She’s seen many elderly, severely demented clients have their lives prolonged beyond what she would choose for herself.

“It takes an extremely strong individual to say, ‘OK, I got these test results. I didn’t like them. I’m not going to do anything with them,’” Turner says.

Turner says she is working with an 85-year-old severely demented woman suffering advanced stage Alzheimer’s. On Mother’s Day a few week ago she handed the woman a rose. Though the woman can no longer speak, Turner is certain that she saw her face brighten.

As long as you can still smell a rose, there’s still some quality of life, she says. But Turner is afraid that people, especially family members, won’t see that, should predictive testing for Alzheimer’s become widespread.

Many of Turner’s clients are Alzheimer’s sufferers who remarried in middle age or later — before symptoms began showing. “I’ve met a lot of super pissed-off second spouses who said, ‘This is not what I signed on for,’” she says.

In a world with reliable Alzheimer’s predictive testing, those second spouses would know that their potential wives or husbands had tested positive, Turner says. They likely would have steered clear of long-term commitment. The Alzheimer’s sufferers would not have had caregivers later in life. Some, she says, would probably kill themselves when severe dementia began to show itself. And in Turner’s view, a lot of late-in-life quality experiences — like her client’s reaction to the rose — would be missed.

Sometimes Karen Kovack, a long-time genetic counselor at OHSU, asks patients who are interested in genetic testing for diseases such as Alzheimer’s or Huntington’s if they have a gut feeling as to whether they will test positive or negative. Kovack says she’s learned that even after 33 years, in most cases she can’t predict how patients will respond to results. But she has noticed that patients who have a gut feeling their test is going to be negative are more likely to suffer depression when they find out it is positive.

Kovack has had two Huntington’s patients commit suicide after positive genetic tests, one soon after hearing the results, the other a year later.

Research, she says, shows that people who are at highest risk for suicide are those who come to recognize early symptoms of their disease around the time they also receive a positive test. Some, she thinks, may have ignored the symptoms until the predictive test made them confront what they had tried to deny.

People who decide whether to get tested for Alzheimer’s or Huntington’s know that there is nothing that can be done for them medically. They can plan their lives differently, however, if they test positive, and they can eliminate some uncertainty, though even positive tests do not tell them at what age they will begin to decline.

But many diseases for which predictive testing will be available in the future will have therapies available. Some already do.

Next: To test or not to test for breast cancer.