Protecting genetic privacy: Is a law needed?

The rise of genetic testing gave birth to a new fear -- genetic discrimination. Research pioneer Francis Collins, MD, PhD, discusses the potential threat and legislation aimed at preventing it.

By — Posted April 5, 2004

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Genetic testing can offer a glimpse into someone's future health and someday could hold the potential for better prevention and treatment regimens. But some physicians on the cutting edge of this scientific horizon worry that health insurers and employers could use the results of genetic tests to discriminate against patients and employees.

These worries resulted in Senate passage last year of legislation aimed at preventing the misuse of genetic information. Some lawmakers are pressing the House to vote on the measure this year.

In an interview with AMNews, Francis Collins, MD, PhD, director of the National Human Genome Research Institute, shared his views on genetic discrimination and the legislation that would prohibit it.

Question: Is genetic discrimination currently a problem and if so, how widespread is it?

Answer: Most people have not had a genetic test yet, so the opportunity for genetic discrimination has not occurred in most people's lives. Certainly, as genetic tests become more widespread, the real risk is going to go up. However, it is not difficult to identify cases in which discrimination has already occurred.

Probably the best known of those is the Burlington Northern-Santa Fe railroad case where employees were tested for a genetic predisposition to carpal tunnel syndrome without their knowledge, with the clear intent of trying to figure out a way to let employees go if they might be at some risk of collecting workman's comp. So there is a pretty drastic example of the kind of thing that we would really like to see avoided and which is the motivation for some kind of legislative solution.

In health insurance, it's hard to get people with this experience to talk about it because they fear what will happen if somebody hears about their genetic predisposition. But there are anecdotal cases, some of them well verified, where individuals have experienced this kind of discrimination and have not had a legal recourse.

Q: Is the public afraid of genetic discrimination and if so, how is that affecting people's willingness to get these tests?

A: The public, through numerous surveys, has indicated its concern about this. For instance, a survey done by the Pew Charitable Trusts certainly indicates that people who are hearing of the possibility of genetic testing in their own future are listing genetic discrimination as a reason why they might not participate. And I can tell you in a very concrete way, based upon research studies going on at the National Institutes of Health and elsewhere, that something like a third of people who have been offered genetic testing for colon cancer or breast cancer decide ultimately not to participate solely for their reasonable concern about discrimination.

You could say they are overestimating that risk, but these are people who are given the facts and this is the decision they make. Remember, genetic test results follow you for life -- they aren't going to change. So [people] need assurances that they are not only not at risk [for discrimination] now, but that they won't be in the future.

Q: As the technology progresses, could genetic discrimination be a bigger problem in the future?

A: Absolutely. We're all at risk for some genetic condition. We probably all have dozens of glitches in our DNA sequence that place us at heightened risk for a preventable disease. There is going to be a strong motivation in the next decade for many of us to find out our own genetic report card. That would be a circumstance where if genetic discrimination has not been outlawed in health insurance or the workplace, the potential for misuse gets to be very high.

Q: Are laws needed to address the potential for discrimination?

A: It's a very important point to state that it will be much easier to nip this in the bud before it has become widespread than to wait until there is already a sort of standard practice in the insurance industry or the human resources office to find out information about people's genetics. That's one of the reasons I think it's very shortsighted to say: "We don't have strong evidence of a lot of trouble now, so let's just wait." The longer you wait, the harder it will be to fix this problem.

We need to remember that health care is not a privilege, it's a right. If you have a circumstance where somebody can lose that right based on something they have no control over -- their DNA sequence -- then you have a fundamentally unjust system. We should not be supporting an unjust system when we have the chance to do better.

Q: Are there appropriate ways in which employers and the health insurance industry can use genetic information?

A: Yes. The Senate bill, S 1053, that is now being considered in the House, specifically allows the use of genetic monitoring to look at possible acquired modifications to DNA such as might occur with chromosomal damage after exposure to certain chemicals. In a circumstance where genetic testing is scientifically validated and is done in a fashion to try and protect employees from health risks, there are appropriate uses of genetic information.

Q: How do genetic tests differ from other medical tests in how the information can and should be used by third parties?

A: Some argue that genetic tests are no different from other diagnostic tests and it's a mistake to treat them in an exceptional fashion. There is a fair amount of logic there, but genetic tests do have special characteristics. They are with you for life. They are not like a blood test that if you have it done today and you have it done six months from now, it might very well change.

Genetic tests also have implications for the family. If I'm tested for a particular genetic predisposition and found to be positive, that has implications for my kids. That's unlike other tests people are contemplating. So while there are many things in common, there are things that are different. I think that justifies taking a close look at how to provide protections.

Q: Is public education necessary to inform people about risks (or lack thereof) of genetic discrimination? What role do physicians play in this area?

A: The information most members of the public have in front of them, in many instances, may sound frightening when it could be quite useful. We have to work harder to make sure, whether through high schools or the public press, that the real facts about genetics get in front of people so that they can make informed decisions.

Frankly, though, most of those informed decisions are going to be made at a time when somebody is contemplating a specific decision about themselves and their families. And in that instance, they're generally going to be sitting with a health care provider trying to get their questions answered. So the highest priority has to be educating the health care providers to answer the questions posed to them. Right now most health care providers have not been put in a position of having that kind of information.

There is an organization called the National Coalition for Health Professional Education in Genetics, NCHPEG, co-founded by the Genome Institute, the American Medical Association and the American Nurses Assn. It has over 100 professional societies and members covering most of the major primary care specialties, in medicine, nursing, social work and dentistry. Together those specialties are working to provide validated educational materials for busy practitioners who are trying to get themselves up to speed so that they can answer those questions in a fashion that reflects the facts scientifically, but also in a way that is fully digestible.

Q: How can existing laws, such as the Health Insurance Portability and Accountability Act and the Americans with Disabilities Act, be applied to cases of genetic discrimination?

A: HIPAA includes language that says if you're in a group plan, your genetic information cannot be used to charge you a higher premium than anybody else or to deny coverage in that group. HIPAA doesn't cover the individual health insurance market, and the problem is that none of us can be confident that we won't ultimately need to be in the individual market.

The Americans with Disabilities Act has been interpreted in some quarters as covering genetic discrimination in the workplace. But there is considerable disagreement whether the so-called "regarded as" clause in the ADA should be interpreted as covering people at risk for some future problem from a genetic test result. The weight of evidence from legal opinions I've seen is that one should not count on the ADA for protections. We need a more carefully worded and intentional piece of legislation.

Q: Would you have any qualms about undergoing genetic testing in the current environment?

A: Yes, I would. If I were in a situation where I was confident that a particular genetic test was highly indicated and where the results might give me the information that could provide me with an opportunity to reduce my risk, I would be very interested in the test, but I would have to weigh that against the likelihood that this could result in damage to my employability or to my ability to get health insurance. And that would be a serious factor. I would not take that lightly. I do think the risks, while not huge, are real, and until we have a circumstance where that is effectively outlawed by well-written federal legislation, I would be quite uneasy.

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Under wraps

Many Americans want controls on who can view their genetic test results.

Yes No
Husband, wife or partner 68% 32%
Immediate family 53% 47%
Insurance companies 27% 73%
Employer 12% 88%

Source: Genetics and Public Policy Center, Johns Hopkins University, 2002

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An alternate view

Some experts worry that congressional legislation designed to protect genetic health data might go too far and undermine the health insurance industry.

"We can pass a lot of laws, and we can have the best intentions, but then we have to look at how they're applied," said Nancy L. Fisher, MD, a geneticist and clinical associate professor at the University of Washington.

Research is finding that almost every disease has a genetic component. If genetic information is too broadly defined, any law barring genetic discrimination could result in health insurers being denied basic information they need to assess the risk pool and set adequate rates, said Dr. Fisher, a member of the Human Genome Project's Planning and Evaluation Group for Ethical, Legal and Social Implications and a former health plan medical director.

"As we get more and more genetic information, we're going to know that more and more diseases are genetic," she said. "If we say health insurance can't use that to spread the risk, then maybe we don't want health insurance and should find another way to pay for illnesses."

State laws might offer sound alternatives to federal legislation, she said. For example, in Washington state, the law defines preexisting conditions as diseases for which the patient already has symptoms. By that definition, health insurers could not misuse results of genetic testing if the disease has yet to express itself.

But several surveys suggest that public fear of genetic discrimination is keeping patients from getting tested for genetic disorders in the first place. Public education is needed so patients have a better understanding of both the power and limits of genetic testing, Dr. Fisher said. Doctors also need to understand that patients have other reasons for not undergoing testing.

"In a way, genetics has a bad connotation to it, too, because when you say something is genetic and runs in families, people think that you're saying that [they are] defective and [their] family is defective," she said.

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External links

Thomas, the federal legislative information service, for bill summary, status and full text of the Genetic Information Nondiscrimination Act of 2003 (S 1053) (link)

National Human Genome Research Institute (link)

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