SCIENCE / MEDICINE : Genetic Testing: Health Care Trap : Discrimination: Employment and adoption problems have been reported after tests determined defective genes. Now the insurance industry is beginning to take notice of the new technology.
Kathleen Ingram was pregnant with her second child. Her first baby had been born with cystic fibrosis, a disorder in which the lungs clog easily with mucus and breathing becomes extremely arduous. Because cystic fibrosis is hereditary, Kathleen knew there was a one in four chance her second child would suffer from the same debilitating disease.
Early in pregnancy, the Ingrams (not their real name) decided to take advantage of genetic testing. The new technology allowed them learn ahead of time if they had passed the defective genes on to the fetus.
The results were not encouraging. This baby, like its sibling, would also have to endure the endless medical attention, exercise sessions to clear the lungs, and most likely a drastically abbreviated life--20 to 30 years with luck. Fully informed about the nature of the disease, Kathleen and her husband decided to carry the baby to term.
But the health maintenance organization to which they belonged had a different agenda. The company threatened to cut off the family policy if Kathleen did not have an abortion. With the assistance of a family friend, the Ingrams fought back and the health maintenance organization relented.
Testing for inherited diseases has become more widely available during the last decade as scientists have made rapid advances in genetic research. At the same time, many have voiced concern about the complications accompanying the new technology. By being able to predict if an individual will develop a certain disease, a Pandora’s box of potential discrimination has been opened.
Evidence is slowly accumulating that insurance companies, employers and even adoption agencies have entered this ethically sensitive territory, rejecting applicants based on information from genetic tests. After years of speculation, some of the first examples of discrimination are now coming to light.
A long list of inherited disorders can be predicted with today’s sophisticated technology. Using techniques that have been developed over the past few decades, scientists are able to directly examine the human genome, the complete compilation of genes within each cell.
Initially, researchers used indirect methods to test for those diseases which were passed from generation to generation. By examining blood samples, they would identify specific biochemical markers produced by defective genes. This method has been used to detect carriers for diseases such as Tay Sachs and sickle cell anemia. But such a method has limitations. Scientists must understand the disease well enough to have identified those key biochemical markers. In many cases, researchers are without a clue.
But using today’s methods of focusing directly on the gene, researchers are able to predict a whole new group of diseases--disorders caused by a defect in a single gene. Specifically, scientists can recognize diseases such as Duchenne muscular dystrophy, cystic fibrosis and an immunodeficient condition called chronic granulomatous disease. In other cases, the gene itself has not yet been isolated, but its approximate location has been identified well enough to predict the disease. One example is Huntington’s disease, the rare, fatal condition that afflicted folk singer Woody Guthrie.
Today, scientists can only identify those relatively rare disorders linked to changes in a single gene. But as researchers begin assembling the entire genetic puzzle, they will be able to predict more common ailments which are associated with a combination of different genes.
While genetic testing can provide useful information to an individual about potential health problems, the results cannot offer a definitive answer about the future course of events. A specific disorder may manifest itself severely in some people and mildly in others.
“The classic example,” pointed out Dr. Paul Billings, director of the Clinic for Inherited Diseases at New England Deaconess Hospital and faculty member at Harvard Medical School, is neurofibromatosis--the elephant man’s disease. Some suffer grotesque disfigurement; others in the same family may have only a few pigmented spots on their body which are never noticed. Scientists do not understand why the same gene defect can cause such disparate symptoms.
However, “if you were a gene tester,” Billings added, “you would say both people had the gene for neurofibromatosis and if you were an insurer you would say both people were disabled. But that isn’t how genetic diseases work. . . . Many people have genes for all sorts of things that may or may not develop into illnesses.”
In order to determine if discrimination is in fact already taking place, Billings advertised in several national publications, asking people to report anonymously stories of unfair treatment based on genetic defects. These accounts, according to Billings, comprise the only formal gathering of information on the subject. The U.S. Office of Technology Assessment, an arm of Congress that studies the impact of technological advances, has studied the issue. But Billings said the OTA reports have only dealt with questions on a theoretical level.
Those who responded to Billing’s ads reported discrimination in all areas.
A woman with a motor disorder called Charcot-Marie-Tooth (CMT) disease, complained she had been turned down several times for life insurance. The disease causes numbness and tingling in the arms and legs but is not fatal. She appealed the insurance company decision, explaining the exact nature of her disorder, but her application continued to be rejected.
The woman’s daughter also suffered from a barely noticeable case of CMT. When she was applying for a job, she indicated on the application that she had CMT. The examiner asked her what it stood for, looked it up in the medical dictionary, and then told her she was ineligible, even though the recruiter had already offered her the position.
One couple decided not to have children because the wife was at risk for developing Huntington’s disease. They did not want to pass the trait on to their offspring. Instead, they chose to adopt a child. However, when the adoption agency learned of their situation, the agency asked the couple to withdraw their application.
While Billings is convinced the issue is urgent, the insurance industry is only beginning to consider the implications of genetic testing.
In 1989, the American Council of Life Insurance put together a booklet entitled “The Potential Role of Genetic Testing in Risk Classification.” In reviewing the present situation, Dr. Robert Pokorski, chairman of the committee which compiled the report, said, “It will be a long time before these tests become commonplace.”
He believes they are still too expensive for insurance companies to perform on a regular basis. For example, the cost of testing an individual for Huntington’s disease, according to Jason Brandt, director of the Huntington Disease Predictive Testing Project at Johns Hopkins University, may average about $5,000.
However, while insurance agencies do not intend to order tests themselves, it is in their interest to obtain results when screening is performed.
“The whole foundation of insurance,” Pokorski said, “is based on the fact that we and the insurance applicant are operating with equal levels of knowledge and ignorance. If they know something, we want to know it. If they don’t know something, we don’t need to know it.”
Jude Payne, senior policy analyst at the Health Insurance Assn. of America, agrees with Pokorski. “My guess is that companies wouldn’t employ tests, but would use information from them. Any medical information would be helpful.”
Once the applicant obtains information and guards it from the insurer, “adverse selection” takes over. People buy life or health insurance knowing they have an increased risk of dying or needing medical care in the near future. And that makes insurers nervous.
According to Payne, costs then increase for insurers, which forces them to raise premiums across the board. Healthy people drop out of the pool because of exorbitant rates, while sick individuals cannot afford to stop paying their premiums. The pool then narrows to include only those mounting huge medical bills and insurance rates rise again.
Payne said such a scenario is speculative because there is not widespread use of genetic testing. But due to public pressure, Payne said, the Health Insurance Assn. will form a committee to study some of the concerns regarding genetic testing.
“I think that people feel insurance companies should cover everybody for everything without raising premiums,” said Payne. “I think that’s a really naive point of view. Just because somebody else is paying the bill doesn’t mean the bill doesn’t exist. I think most people are so used to having their health care paid for that they just think you can shift the cost and the cost goes away.”
“There’s some examples where genetic testing would in fact increase the availability of insurance to people,” Payne added. If an individual at risk for Huntington’s disease applies for insurance, he would be turned down automatically--even though there’s a 50-50 chance he would never come down with the disease. By undergoing genetic testing, that same individual can find out if he has the defective gene. If the malfunctioning gene has not been inherited, the stigma, as well as the insurance risk, has then been forever removed.
The insurance industry often is blamed for depriving people of what many consider the right to obtain affordable coverage. But are insurers merely exercising sound business practices when they raise an individual’s rates who has a predisposition toward a certain disease?
“Whether they should be allowed to do that,” said Mark Rothstein, director of the Health Law Institute at the University of Houston, “is a matter purely of politics and certainly cannot be attacked on any actuarial grounds. It makes perfectly good sense. Now whether it’s discriminatory or against public policy . . . that’s a whole different issue.”
“It’s kind of a nasty paradox,” said Thomas Murray, director of the Center for Biomedical Ethics at Case Western Reserve University. “If we start making health insurance available on the basis of whether or not you’re likely to get sick--that is if you’re likely to get sick we won’t give you health insurance--that’s not a very good idea. That seems a bit backward.”
How probable is this doomsday prediction that sick people will be forced to cover premiums equivalent to their medical expenses? Those familiar with the issues voiced two possible alternatives.
Laws can be enacted to protect individuals from discrimination. “Five years ago I was saying it was premature to be drawing up any legislation about this,” Murray said. “ But I think the time is approaching when we ought to be thinking seriously about legislation.”
And second, as many suggest, the dilemma may force society to accept a different approach to health care. According to Neil Holtzman, professor of pediatrics and health policy at Johns Hopkins University, “As we progress into widespread genetic testing . . . the concept of private insurance is undermined. If we’re going to try and maintain equity and to cover people regardless of what their risks are, it will drive us to some sort of national health insurance program.”
