 
|
|||||||||||||||||||||
              
|
Should the secret be unlocked? Genetic testing can affect relationships with family, employers, insurers Sunday, July 02, 2000 By Byron Spice, Science Editor, Post-Gazette
Reading the book of life
Christine DeMark lost her job but gained faith after finding she has Huntington's
After one child dies from genetic disease, a Johnstown couple seeks prenatal testing
Many genetic tests may turn out to be a mixed blessing
The outlaws traipse through Mary's kitchen every six months or so. Beginning late in the morning, they take turns sitting at her kitchen table, unbuttoning their shirts so electronic leads can be taped to their chests.
By the end of the afternoon in this small Erie County town, 60 or 70 people may have sat in that chair, catching the scent of meatballs, lasagna or marinara that Mary and husband Vin prepare for their guests. It's a congenial group, a close-knit family of Italian-Americans who work hard at their jobs as machinists, nurserymen and homemakers.
Nothing illegal is going on here -- just some gene-hunting by University of Pittsburgh researchers.
But a genetic mutation carried by many members of this family can be life-threatening, and so they worry about what it may mean for getting jobs and getting insurance -- a worry that is so strong, they insisted their last names not be used for this story.
And even though their condition, known as Brugada syndrome, is an open secret among their neighbors, the family members sometimes feel like genetic outlaws, not sure whom they can trust with the story of what lurks inside their DNA.
Brugada syndrome can cause otherwise healthy, middle-aged people to collapse and die because their hearts start twitching uncontrollably.
By offering blood samples, submitting to periodic electrocardiogram studies in Mary's kitchen and, in some cases, going to UPMC Presbyterian for extensive electrophysiological examinations, about 150 family members together have helped cardiologists Barry London and Raul Weiss track down this potential killer lurking inside their cells.
It also has helped many of them get treatment, which can mean a $50,000 operation to implant an automatic defibrillator to shock the heart back into action if it goes haywire.
Fears of revelation
Yet family members fear what might happen if their names were publicly linked to the disease, particularly to the young ones just establishing families and careers. Will employers want to hire someone who might die prematurely or require an expensive implantable defibrillator? Will they be eligible for individual health-care coverage? Will they be able to afford life insurance?
Some cooperate with Weiss and London, but ask not to be told whether they display traits of Brugada syndrome. They don't want to have to lie about preexisting conditions if they should apply for insurance someday. Even those who do know their genetic status -- so they can take steps to avert disaster -- usually keep it to themselves. It's not something they discuss much, even within the family.
These are common concerns in genetic medicine. And with knowledge of human genetics exploding because of the Human Genome Project, more families -- in fact, most families -- can expect to grapple with these issues as doctors increase their use of genetic testing.
Everyone has at least a handful of potentially deadly genetic mutations. Some may cause immediate illness, others may cause symptoms only late in life and others, for one reason or another, may never cause problems. But even when they don't become active in an individual, these mutant genes can pose a risk for offspring.
Is a person who learns about such a mutation under an obligation to warn other family members? Can a person reveal genetic information about herself or himself if it also reflects on the rest of the family? Are some genetic flaws so devastating that one should forgo having a baby?
These questions show how thorny the problems created by genetic testing can be.
And underlying it all is the fear that people will not be treated fairly if their genetic fingerprints become known.
Worries about genetic discrimination are nothing new. On one level, it's as old as racism, in which the genetic inheritance of an entire group of the human family has sometimes been used to shun, persecute or kill them.
But modern genetic testing promises to reveal traits that would not be obvious otherwise. As more and more genetic disorders have been identified and tests have been devised for them, genetic counselors have cautioned patients about the harm that knowledge can bring.
And while the potential to alter or manipulate the genome is still far in the future, it already is raising questions about the wisdom of cloning people or creating genetically enhanced children.
Perhaps one day there could be reverse discrimination -- favored treatment in education, jobs, insurance and many other parts of life for those who have "superior" genomes.
Protecting privacy
These ethical issues are so significant that James Watson, the co-discoverer of DNA's structure and the first head of the Human Genome Project, decreed in 1990 that the project would set aside monies specifically to ponder these questions. Ever since, the National Institutes of Health and the Department of Energy have spent between 3 and 5 percent of their genome funding on their Ethical, Legal and Social Implications, or ELSI, program.
"Early on, Dr. Watson was asked how he would measure the success of the ELSI program," recalled Eric Juengst, who was its first administrative head. "He said it would be a success if there were no scandal regarding genetic privacy." By that measure, said Juengst, a bioethicist at Case Western Reserve University in Cleveland, ELSI's record looks good.
There have been anecdotal reports of discrimination, but most studies suggest that abuses are not widespread. While many states, including Pennsylvania, have no laws prohibiting insurers from canceling coverage or raising rates based on genetic tests, a Wake Forest University study last year found little difference in practice between states that had such laws and those that did not.
It could be, then, that ELSI's bioethicists and lawyers got it wrong and overestimated the potential for discrimination, Juengst admitted.
But the lack of evidence of discrimination may have more to do with the infant state of genetic testing than it does with how even-handed employers and insurance companies have been.
Though hundreds of genetic tests are available, the vast majority are considered research tools and have not been approved by the Food and Drug Administration for marketing. Tests for single-gene diseases such as Huntington's are highly reliable, but many tests are not yet good predictors of future disease. So it could be that few companies are bothering to discriminate because current genetic tests are infrequently used and give murky results.
One of the most active areas of testing has been for breast and ovarian cancer risk -- the BRCA-1 and BRCA-2 genes. Women who have one of these mutations face a 50 to 85 percent risk of developing breast and ovarian cancers, compared with the 12 percent lifetime risk of women without the mutations.
Dr. Wendy Rubinstein, director of cancer genetics at the University of Pittsburgh Cancer Institute, said 150 to 200 patients seek genetic counseling each year through Magee-Womens Hospital's genetic counseling service, and about 60 opt for genetic testing. She's not aware of any overt discrimination that has resulted for women who get the tests, but that doesn't mean it does not occur in subtle ways, and it has not quelled women's fears.
Many women who do not have breast cancer, but think they may be at high risk for it, pay for the test out of their own pockets rather than submit an insurance claim. They can maintain greater control over the information in this way, Rubinstein said, although they are reminded they must still answer truthfully about the tests on insurance applications.
Still other women choose not to be tested at all, regardless of their medical needs or their ability to pay, because they don't believe that the medical system can maintain their confidentiality, said Dr. Reed Pyeritz of Allegheny General Hospital, past president of the American College of Medical Genetics.
Even genetic experts seem to share that skepticism.
A Yale University survey of genetic counselors last year found that while most would agree to genetic testing for themselves, more than two-thirds would pay for the tests themselves and almost as many would not share the results with their colleagues, for fear that they might face discrimination on the job.
Clinton's order
"I think what we have to do is separate out the real fears from the imaginary fears and do something about it," said Dr. Francis Collins, Watson's successor as head of the National Human Genome Research Institute. In the United States, most of the concerns have to do with health and life insurance and with employment. "In all of those issues, I think, there's a pretty clear path" toward protecting against discrimination.
In February, President Clinton issued an executive order barring federal agencies from discriminating against employees on the basis of genetic tests and offered support for pending legislation that would prohibit all employers from refusing to hire people at risk for health problems and bar insurers from refusing to sell them coverage.
"It's a step in the right direction," Juengst said. "This was the sort of public policy statement we were always hoping to achieve."
But as thousands of civil rights cases in the courts demonstrate, just passing laws or issuing presidential orders doesn't mean discrimination won't occur.
The broader issue, Juengst said, is that people's health risks should not be used against them, no matter how the information becomes known.
But genetics today may be where AIDS was in the '80s, an area where concerns about confidentiality are heightened and special protections are needed before medical science and research can progress. If people don't feel confident that they can undergo genetic tests and still keep their privacy, scientists won't be able to make nearly as much progress in finding genetic disorders and coming up with treatments for them.
The employers' edge
Employment discrimination is a particularly hard problem to solve, said Mark Rothstein, director of the Health Law and Policy Institute at the University of Houston. He anticipates some employers will be motivated to cut absenteeism and the costs of their health-care plans by culling workers with suspect genes.
"I'm not worried about Ford and Microsoft," he said, noting that large companies have so many employees that the risk to overall productivity or costs from employees with genetic problems would be minimal. "I'm worried about the [small-to-medium-size] employers you've never heard of."
Employers have the tools necessary to learn about genetic information and act on it, Rothstein contended, and it has nothing to do with surreptitiously getting their hands on medical records. "They aren't going to snoop around," said Rothstein, a Pitt graduate. "They're going to demand you tell them."
It's true they can't demand it on a job application, though it may sometimes come to light when checking references or asking why the applicant left a previous job.
"After an offer is made, however, everything changes," he explained. A job offer can be made conditional on a medical examination. In this circumstance, doctor-patient confidentiality doesn't exist, he noted, and the job applicant may not be aware of all the medical information being reported to the employer.
A job offer can then be withdrawn without explanation, Rothstein said, and the applicant may never know why unless he sues.
"People who lose offers don't tend to sue unless they are aware of clear discrimination," he said. They may also fear a suit would scare away other prospective employers, he added.
On the other hand, there are cases in which society might want employers to seek out genetic information for the employees' benefit, Rothstein said.
One example: If some people prove to be genetically susceptible to beryllium disease, a chronic lung ailment caused by inhaling beryllium metal dust, should beryllium-processing companies be required to identify those people and keep them out of dangerous areas? Could the same be said of asbestos workers or coal mine workers who face other lung diseases?
Case Western's Juengst said there is also another way of handling the legal issues associated with genetics and employment -- putting the burden on the applicant. The employer would be forbidden from using genetic tests to screen employees, thus safeguarding an individual's opportunity to get a job, but the company's liability might then be reduced if the employee were to develop a work-related illness.
Some protection might be available to people who have genetic susceptibility to diseases from the Americans with Disabilities Act, but probably not much, Rothstein said. People who already have a genetic disease have the same protection as other people with disabilities, but people who have only a chance of getting such a disease and don't have symptoms may not be covered by the law.
The Equal Employment Opportunity Commission has argued that the ADA does cover susceptibility. Even if that interpretation is accepted by the courts, however, the ability of employers to require pre-employment physicals, and then withhold a job offer without offering an explanation, may make the protection largely theoretical.
Insurance conundrum
The insurance industry may seem to have fewer loopholes that would allow it to discriminate against people who have a genetic propensity for a disease, but the issue isn't as simple as it seems.
It's true that many states now have laws prohibiting insurance companies from discriminating against people based on genetic test results, and requiring them to keep the information confidential.
And right now, insurers maintain that they aren't that keen about genetic testing anyway because it is still uncommon and not wholly reliable, said Robert J. Pokorski, vice president for worldwide medical research at General & Cologne Re of America, one of the world's largest reinsurers.
"We never did cholesterol tests until doctors started to do them routinely," Pokorski said. "Companies aren't going to jump out and start testing before doctors do."
Still, as tests become more common and reliable, life insurers will be more insistent that they be told about test results. More importantly, Pokorski contended, consumers will want them to do so.
It's the only way to prevent what insurers call "adverse selection" and to keep insurance companies solvent.
Consider what might happen if a genetic test shows an individual will develop Huntington's disease, a brain disorder that strikes at midlife and results in a prolonged decline and an early death. That person might well want to buy extra life insurance. If he keeps the test results to himself, he'll pay the same premium as someone the company might anticipate could live well into his 70s or 80s.
That would be a bargain for someone who, admittedly, has been dealt an unlucky genetic hand, and it's easy to feel sympathetic. But if too many people take advantage of the insurer in this way, Pokorski said, the company will be forced to increase premiums for everyone.
That's because companies rely on the premiums paid by healthy people who live longer to help pay the claims of those who die prematurely.
The problem could be solved by charging higher rates to people with Huntington's, just the way smokers pay higher rates. But there's one problem with that idea: Nobody with the genes for Huntington's seems to be admitting it to insurance officials.
Even though a test for the disease has been available since 1994, and even though there are an estimated 250,000 Americans who have the disease or are expected to get it, life insurance experts don't know of a single person with coverage who has ever acknowledged having Huntington's.
"I talk with insurance people all over the world and I've never heard of anyone," Pokorski said. It's hard to believe, he said, that no one who has tested positive for Huntington's disease has bought life insurance in that time. The temptation should be irresistible.
That means "adverse selection" is undoubtedly already occurring -- in other words, people who know they have life-shortening conditions are hiding that fact and paying the same premiums as everyone else.
Intentional bias
While Pokorski acknowledges that this does not appear to be a big problem yet, it nevertheless undermines a fundamental part of the life insurance business, which is to estimate what risk different groups of people have of not living a normal lifespan.
People who buy insurance later in life, for instance, have to pay a higher premium than younger people do. People with heart disease are in the same boat. In fact, insurers already engage in a rough form of genetic screening -- they can charge more to people whose families have a history of a certain disease, and that method of calculating risk is less accurate than genetic testing will be.
Insurers say this differentiation in rates is how they make life insurance as cheap as possible for people whose primary worry is accidental death, while also keeping it available for people whose health problems motivate them to buy insurance at whatever price they can get.
Health insurance poses a different problem.
Nine out of 10 people have group health insurance and the federal Health Insurance Portability and Accountability Act of 1996 prohibits employer-sponsored health plans from discriminating based on genetic information.
But self-employed people or others seeking individual health insurance policies don't enjoy that federal protection.
The Health Insurance Association of America says companies that offer individual coverage may use genetic test results for risk assessment, just as they consider the individual's general health and family history.
None of the association's member companies currently requires genetic testing as a condition of coverage, however. And the companies' ability to use genetic information is limited because 32 states have passed laws protecting individuals who undergo genetic testing.
Pennsylvania does not have such a law, though legislators are considering a bill that would protect the confidentiality of genetic information.
Not everyone believes that genetic testing will lead to discrimination.
Some physicians argue that widespread use of the tests ultimately will demonstrate the futility of genetic discrimination because everyone carries at least a handful of troublesome genes.
But the University of Houston's Rothstein considers that view naive.
A genetic defect can have very different economic implications for different types of insurance. A life insurance company, for instance, probably wouldn't care if somebody was susceptible to Alzheimer's disease because it has little effect on lifespan, but it would make a big difference to someone selling long-term care policies.
And insurance companies are not the only ones concerned about premiums, Rothstein emphasized.
Even though opinion polls show people don't believe that those with genetic diseases should pay higher premiums, they usually answer no when they are asked if they would be willing to pay 10 percent more in premiums so people who are going to die prematurely can pay the same as they do.
"Medical privacy is like motherhood and apple pie," he said. "But nobody wants to pay the cost of it."
More information is available at the following Web sites:
|
||||||||||||||||||||
Sunday, July 9: