Genetic Jeopardy

It wasn't that the federal government didn't know the possible effects of pouring $3 billion into a 15-year project to identify every gene in the human body, and it's not that the researchers involved didn't care. It's just that five years ago, when the Human Genome Project (HGP) was launched by the U.S. Department of Energy, the consequences of discovery weren't as frightfully real as they are today.

For more and more people, the fruits of the project have soured. The HGP was created for the betterment of health care, and the uncovering of every new gene is a precious step in medicine's march forward. But now, as the explosive advances of the HGP unfold, with an average of five new genes named every week, abuses that once seemed mere threats now have real, live victims.

Suddenly, lawmakers are dealing with a new and particularly troubling form of discrimination: genetic discrimination.

"It has nothing to do with your work performance or your current health," says state Rep. Patrick Dougherty (D - Missouri), who has sponsored a bill in the Legislature this session to ban genetic discrimination. "It's just that you may have been born with the wrong set of genes, and that could be anybody. Anybody. You can't preorder your genetic makeup. What you've got, you're stuck with, so it's guilt by association, and it's creating a biological underclass. It's the 21st-century McCarthyism."

Dougherty doesn't approach the subject blindly. He was prompted to write the bill by Father Jack Schuler, pastor of Our Lady of Guadalupe in Florissant, Missouri, whose father and two brothers died of complications caused by Huntington's chorea. In order to find out if he also carried the gene, Schuler underwent genetic testing at a clinic in Columbia, Mo. But before the testing was allowed, Schuler had to undergo extensive counseling because, as he puts it, "It's a traumatic thing to find out what you're going to die of." The counseling, he adds, also made him aware of the probability of discrimination.

The tests were negative, and Schuler still has the champagne cork to prove it. But Schuler also saw the need to end an insurance company's ability to use the test results against a person's better health interests, especially when most of the tests are performed to diagnose a person's potential for a disease.

"People have a right to health care, to not wipe out every penny they have," Schuler says. "Insurance companies aren't interested in my health. They're interested in their bottom line, and it's an issue for a lot of people, because research is so heavily genetic now. Think of all the people who aren't going to be insured. The ethical issues are very deep."

"It's an example of cherry picking," says Wendy McGoodwin, executive director of the Council for Responsible Genetics (CRG) in Cambridge, Mass. "It's using predictive technology to select out people who the insurance company believes are most likely to remain healthy. This really undermines the social purpose of insurance, which is to spread the risk broadly across the population."

It's a case where technology has gotten ahead of itself, not to mention the rest of us. Insurance is regulated by the states, rather than by the feds, and according to the National Association of Insurance Commissioners (NAIC), 18 states have recently passed laws barring some form of genetic discrimination. Missouri is not one of them. Not yet.

Randy McConnell, spokesperson for the Missouri Department of Insurance, explains that unless an insurance practice is disallowed by law, it's only regulator is the insurance contract itself. "So if the contract is wide open in terms of how they use the medical information, then you may well be at the mercy of the company if you want to continue coverage," McConnell says.

Insurance underwriters in states where genetic bias is illegal view genetic information in the same way as any other information on a person's medical record. Richard Coorsh, spokesperson for the Health Insurance Association of America in Washington, D.C., says it's all a function of risk assessment, and asks how the insurance industry is supposed to stay afloat if it's not allowed admission to vital health information.

"To an insurer, it makes no difference about the derivation of your medical records, whether it's through genetic or biological tests," Coorsh says. "We are simply interested at that point with better assessing the relative risk. We need to have the ability to assess the risk in order to be fair to the people who are already in the market and to provide for the people getting into the market with the least possible premium price."

Maybe that makes some sense if genetic tests, in addition to identifying mutant genes, also determined an individual's chances of actually developing the genetic disorder. But Dr. Alison J. Whelan, a medical doctor and assistant professor of pediatrics and medicine at Washington University, points out that just because a person is born with a particular gene does not mean he or she will develop the genetic condition associated with its mutation. "We cannot give people absolute risk assessments," she says.

Besides, says Dougherty, "For 25 years they've been factoring in these people. They've based their premiums on the entire population, but now they're weeding people out. This is discrimination, and there's so much on the horizon (with genetic research) that we can't let the good of this be outweighed by the evils of discrimination."

As with any science field that's growing as quickly as genetics is, the statistics of discrimination are still bound in the annals of academia.

McGoodwin of the CRG in Cambridge says, "The hope is that once we know what these genes do, we'll be able to use that knowledge to improve health care. It's quite likely that in the long run, there will be great benefits. In the short term, however, we are seeing some pretty serious problems, because the advancements in predictive knowledge are outpacing practical treatment options.

"So now, for instance, we can do a test to determine if an individual is at genetic risk for a particular disease, but we can't do anything about it, because we don't yet have the prevention tool."

Unfortunately, there are also long-term problems looming darkly on the horizon. There is increasing concern, for example, that genetic mutations that are more commonly found in certain ethnic groups (sickle-cell anemia among African-Americans, breast-cancer genes among Jewish females) may cause a form of new and improved ethnic discrimination.

But insurance is not the only issue involved here. According to the Georgetown University study cited above, 13 percent of the respondents with predispositions for genetic conditions were fired from their jobs because of it. The 1990 Americans with Disabilities Act (ADA), designed to protect the disabled from discrimination, was amended in '95 to include healthy people who are genetically predisposed to a disease. But invoking the ADA protections would require workers to take a genetic test (which would consequently go on their medical record), and they would also have to prove that the employer fired them because of it.

The National Association of Insurance Commissioners estimates that the value of life-insurance policies purchased in the U.S. for 1993 was $1.7 trillion. With life-insurance coverage, insurers place applicants in groups or classes, with each class having comparable levels of risk, and all members of the class paying the same premiums.

With group health insurance, rates are determined through the group's own claims or by data from other similar groups in the same industry. For individual health coverage, rates are set according to age, sex and geographic residence.

Coorsh, of the Association of Health Insurers, says that by grouping applicants by risk, companies are able to estimate potential costs. It's almost like the process of natural selection, where nature (the insurer) selects out those characteristics (potential health problems) that would harm the species (the insured) as a whole, therefore securing a better future (lower premiums).

"Typically, while this is an issue for a significant number of people, the overall number of people tends to be a subsection of a subsection," he says in reference to the fact that most people are covered by group plans, which don't usually exclude individuals because of pre-existing conditions. "Because the individual market is so small and because the people in it are generally at higher risk, it's difficult to spread the costs out like you can in group coverage."

Of Missouri's non-elderly population of about 4.5 million, approximately 9 percent buy individual coverage.

At the heart of the issue is whether insurers should be allowed to consider genetic conditions as "pre-existing conditions." Prior to the current state of genetic testing, a pre-existing condition was one that manifests itself with symptoms and signs of the disease and is documented in the person's medical record.

"It's kind of like the adage that you don't close the barn doors after the cows have left," Coorsh explains. "If you leave it so that people can enter the market at any time, regardless of health status, what's going to happen is that people are going to hold off getting coverage until they need it. But if a lot of people did that, the ability of the group to realize their benefits would be severely compromised. We use the pre-existing condition to get people into coverage early, before they need it. And we need to have the ability to assess the risk in order to be fair."

In testimony after testimony before Congress, when one or the other of 12 separate genetic-discrimination bills were heard last year, insurers claimed that if they weren't able to access all medical information, their companies would surely go bust.

But as McGoodwin reminded a Senate committee: "There is no epidemic of genetic conditions. Thus they are already reflected in the actuarial tables used by insurers to establish rates. It is misleading for insurers to suggest that their financial solvency will be jeopardized if they are obligated to insure people at risk or with genetic conditions. In fact, insurers have always insured people at risk for genetic conditions. Previously, however, it was not possible to identify people at risk before they became ill with the disorder."

And she adds, "Early identification of risk status may actually lead to insurer cost savings as a result of preventative care and longer life spans during which premiums could be collected."

Whelan, of Wash. U., explains that breast cancer is a good index of how little genetic tests can actually predict. In 1994, researchers discovered the BRAC1 gene, more commonly called the breast-cancer gene, and while the discovery was hailed as one of the most significant finds of genetic research so far, applications of testing for the gene are still far from complete.

For example, it is estimated that there are some 130 mutant forms of the BRAC1 gene, most of which have not been studied yet. It's also not clear what other factors contribute to breast cancer in addition to the BRAC1 gene. If, for instance, a woman has at least two close relatives who have breast cancer and she then tests positive for BRAC1, the results mean that she has an 80-85 percent chance of developing cancer as well. If she does not have a family history of breast cancer, however, it's completely unknown what her chances are if she still tests positive for BRAC1.

"The complexities of genetic testing come out of a need to understand the results," Whelan says. "The tests are not always black-and-white, and what to do clinically with the information is not always black-and-white. If you carry an alteration of the gene, it doesn't always mean that you'll develop the disease."

The Genome Project recently funded a study that looked at the genetic disorder called hemochromatosis, an iron-storage disorder. The disease affects about five in 1,000 people, but 25 percent of those who have the gene will never develop the disease. The study states that, "given the practice of insurers and employers demonstrated by our study, it seems likely that this is not an overestimate of the number of people who will never develop (the disease) but who, nevertheless, will experience genetic discrimination."

The AMA is opposed to employers using genetic information to exclude a worker because "genetic tests alone do not have sufficient predictive value to be relied upon as a basis for excluding workers."

Even the insurance industry acknowledges that genetic testing isn't capable yet of determining accurate risk for most diseases. "Many of these genetic tests are not predictive," Coorsh says while explaining why insurance companies don't require genetic testing before coverage of a person is issued. "They show instead only a predisposition for the disease." That acknowledgment apparently doesn't lead the industry to stop the discrimination.

Which leads the experts to wonder what will happen once the testing becomes more predictive of the probability of acquiring the disease.

It is the threat of discrimination that leads to possibly the worst of all consequences: that people will not be tested and that beneficial applications of the newly discovered information will not be utilized.

Before the BRAC1 gene was discovered in 1994, healthy women who had strong family histories of breast or ovarian cancer sometimes underwent mastectomies in order to prevent the cancer from developing in the first place. Now that the gene has been discovered, fewer women will consider taking this radical preventative measure. A Georgetown study was conducted last summer of 279 people who had strong family histories of breast, ovarian and prostate cancer but who had never been genetically tested. As part of the study, the individuals were given the tests, and it was found that 15 women who had had both their breasts and ovaries removed did not carry the BRAC1 gene at all.

In addition, 9 percent of the participants refused the testing for fear of future discrimination. The report states: "This fear limits the opportunities of individuals to learn that they are not at increased risk for the genetic disorder in the family or to make life-style changes to reduce the risk or seriousness of the condition."

"The threat of discrimination compromises their ability to take full advantage of their medical options. In some cases this means that they will miss out on early diagnosis, treatment or even prevention," McGoodwin told the U.S. Senate Committee on Labor and Human Relations last July.

"In a pilot study of genetic discrimination using the case study approach, we found a significant number of cases showing unjustifiable discrimination against individuals and relatives of these individuals who are asymptomatic but are labeled with various genetic diseases." In other words, what could be a useful tool -- preventative screening -- may also be prohibitive because of discrimination.

For people whose families have a history of a genetic disorder such as Huntington's disease, the tests can provide information they need to make the hard choices they would otherwise not know how to make.

Jack Schuler's father, for example, came from a family of 10 children, five of whom tested positive for the gene. Four had already died, in addition to two of Schuler's own brothers, so the chances he had the gene were very high. What he wanted to know was whether he should expedite a missionary journey to Africa. But, as he points out, there are other decisions of great magnitude that have to be made. "Do you want to have children? Do you want to take the test or do you want to roll the dice? And if you have a family, you have upped the ante."

The AMA's policy is that widespread screening for diseases such as cystic fibrosis should be delayed, because "Allowing third parties access to the results of carrier testing may inappropriately restrict reproduction decisions and is not acceptable."

Dougherty explains the importance of his bill at a coffee shop on South Grand. The bill was drafted according to similar language in a bill crafted by the Huntington's Disease Society of America that was passed by the Minnesota Legislature. The legislation would ban insurers -- when they offer, sell or renew coverage -- from the following: requiring genetic testing; asking whether the applicant or any relative has been genetically tested; considering the results of a genetic test if it's in the applicant's medical records; and using the genetic information to deny coverage, terminate coverage or establish differentials in premium rates.

The bill also makes it illegal for employers to require DNA testing of employees or prospective employees or to discriminate against current or potential employees because of the results of a genetic test.