Journal of the National Cancer Institute Advance Access originally published online on June 27, 2007
JNCI Journal of the National Cancer Institute 2007 99(13):993-995; doi:10.1093/jnci/djm058
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© Oxford University Press 2007.
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GINA THE TEASE?
Genetic Nondiscrimination Legislation Could Improve Cancer Prevention—If it Passes
Although discrimination often seems based on visible traits—race, sex, or sexual orientation, for example—it can also be based on something deep inside people: their genes. Especially when those genes harbor a change in their DNA sequence that predisposes someone to a disease like cancer.
But politicians appear poised to strike at this discrimination before it gets a foothold. In late April, the U.S. House of Representatives passed a bill seeking to prevent genetic information from being misused for health insurance purposes or employee hiring practices. Called the Genetic Information Nondiscrimination Act (GINA) of 2007, the bill mirrored legislation that the U.S. Senate passed in 2003 and again in 2005. Supporters hope the Senate will again support the bill so that the protections can finally be ensconced in law.
"Everyone's hope is that we will increasingly use genetic information for health purposes," says clinical geneticist Susan Domchek, M.D., the director of the cancer risk evaluation program at the University of Pennsylvania in Philadelphia. "So we should get the risk of discrimination out of the way now."
If the act does become law, it will prevent insurance companies that insure individuals—rather than group insurers—from using information about people garnered from genetic testing to deny them coverage and will prevent employers from using that information to decide whom to hire. Experts say the legislation is much needed, both to get potential cancer victims into preventive care and to encourage more volunteers to enroll in clinical trials. But they also say other laws against genetic discrimination already on the books are untested, so predicting whether insurance companies will challenge GINA is anybody's guess.
Legislation passed in 1996 called the Health Insurance Portability and Accountability Act (HIPAA) prevents group health insurers from using genetic testing results to deny coverage, but it doesn't address employment or other potential areas of discrimination. GINA improves on what state laws offer as well, says Jeffrey Weitzel, M.D., director of clinical cancer genetics at City of Hope Cancer Center in Duarte, Calif. "In 2002, 48 states had some protective legislation against genetic discrimination in health insurance. Fewer had protections for employment, disability insurance, or life insurance. What GINA does is extend to all Americans that level of coverage or better."
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Not Like Any Disease
About 900 genetic tests exist for a variety of conditions, and many are designed to find diseases in fetuses and newborns. For example, Down syndrome can be diagnosed by a genetic test showing an extra bit of chromosome. And a genetic test can reveal whether a particular mutation in the Huntington Disease gene will destine the carrier to come down with the disease as an adult.
Cancer experts say the nature of cancer puts genetic testing for cancer in a class by itself. While the disease is often deadly, sometimes preventive measures can be taken. "If we know what to worry about in cancer risk counseling, we have interventions that are documented to be effective or are likely to be effective," Weitzel says.
Cancer provides an interesting angle because virtually any adult might get cancer, says Susannah Baruch, J.D., the director of reproductive genetics at the Johns Hopkins Genetics and Public Policy Center. "The irony here is of course that everybody's genome is imperfect—we're all at risk. The injustice is having only a handful of tests that single out the few we can identify."
As with many other diseases, genetic testing is useful primarily for people who have a family history of cancer. "Hereditary cancer is the vast minority of cases," says Detroit genetic counselor Nancie Petrucelli, the cochair of the National Society of Genetic Counselors cancer special-interest group. "They only account for 5%–10% of cases. That's why we don't do cancer susceptibility testing in each cancer."
But for those with hereditary cancer mutations, the risk of getting cancer can be enormous. For example, 85% of women with a particular mutation in the breast cancer gene BRCA1 eventually get breast cancer. Experts say that because interventions exist that can significantly reduce the likelihood that carriers will die of cancer, people with family histories of cancers should get tested when a genetic test is available.
The highest-profile cancer mutations include the two BRCA genes and a colon cancer gene. But genetic tests also exist for melanoma, kidney cancers, and others. One mutation for thyroid cancer predisposes all carriers to cancer, but removing the thyroid prevents the disease.
Other genetic tests pick up mutations in genes known as PTEN and p53, where interventions aren't necessarily as straightforward as removing an offending organ. But Domchek says figuring out how to treat lesser-known mutations currently takes a backseat to a more pressing issue: getting people to go in for genetic testing in the first place.
"Our problem right now is the fear of being discriminated against because of genetic testing," she says. "People won't even come in for counseling. They think even if they pretend to go in for genetic counseling, everything will be shot from there and they’ll lose their ability to get life or health insurance."
Real or Imagined?
Petrucelli has been testing for cancer susceptibility for 10 years, and she has found that "a good many individuals are concerned that results of genetic testing would be used inappropriately and may jeopardize their health insurance. When someone comes to me, I do use the HIPAA law to give them reassurance, but that doesn't mean they aren't fearful of it coming through the door."
Weitzel says his anecdotal experiences suggest that people are becoming less fearful of possible negative repercussions of cancer testing. "At the City of Hope, 10 years ago about a third to a half of my patients would pay in cash for testing. Their clear intent was they wanted to keep it confidential." Now, he says they are willing to go through their insurance to get their tests paid for.
In Domchek's experience, however, average people are far more skeptical that their genetic secrets would be kept safe. "Their fears are just as strong now as 10 years ago," she says. "I gave a talk last night to a lay audience, and I told them that there is no good evidence that genetic discrimination is routinely occurring, and the first thing I heard back was ‘Well, not that you know of,’ and ‘Not yet.’"
Surveys support the view that the public has pervasive fears of discrimination. In a poll conducted in March by Baruch's Genetics and Public Policy Center, more than 90% of adults were concerned that their genetic information gleaned from cancer testing could be used in ways that are harmful to them. Half of them were "very" concerned, mirroring a 2004 survey that showed half of 470 people getting tested for colon cancer mutations had a "high" level of concern that they would be discriminated against.
These fears translate into missed opportunities for cancer care and research. "The fear is so great that people are not availing themselves of the opportunity for early intervention," Baruch says. "And there are implications for family members." She says individuals worry that they will be discriminated against if they have a family history of cancer and their employers find out, as if they've been tested and found to be at heightened risk. Baruch says the GINA legislation also protects against discrimination that is based on family history.
On the other hand, Domchek points out that 50% of people with a family history of hereditary cancer, on average, are not carriers and would not be at risk. "The interventions are effective but not without complications. The tests allow us to know who is at risk and who is not at risk," she says.
Although these fears are common, no good data show that genetic discrimination really exists. Weitzel and Domchek say that people might be confusing being diagnosed with cancer and being refused insurance for a preexisting condition with being tested for hereditary cancer genes. Also, early genetic testing for Huntington disease "raised the specter of genetic discrimination," Weitzel says, and this paradigm might persist today.
Physician Confusion
Patients aren't the only ones who are confused. Weitzel surveyed 226 cancer physicians and nurses in 2005. Sixty-four percent didn't know about the anti–genetic discrimination aspects of the HIPAA law 9 years after it had been passed. And of the physicians who had never referred patients for genetic testing, 17% of them said it was from concern for potential insurance problems. "We have solid evidence that there's a dearth of knowledge about current protections and a presumption of a problem," he says. "We believe this affects how physicians practice cancer care."
While some like Petrucelli think GINA will remove barriers to people's getting tested, some cancer geneticists worry that insurance companies won't go quietly into GINA's good night. Domchek says HIPAA is an untested law, and interested parties may wait until GINA passes to challenge it. So as far as people worrying unnecessarily now about insurance woes due to genetic testing, "I can't say they're not valid fears, but they could be. Five years from now they could be very valid. It is hoped that the point will be moot by then."
Mohit Ghose, a spokesperson for the trade association America's Health Insurance Plans, disputes those fears by pointing out the organization has worked with the House and now the Senate on the legislation. "We agree with the direction and intent of the House bill. We do not believe people should fear that they will be discriminated against based on their genetic information," he says. Actually having a disease will continue to affect underwriting people in the individual insurance market, but testing positive for a genetic marker will not. He adds that insurance companies would like to be able to request certain genetic tests if such tests could be used to direct the course of health care.
However, independent insurance agent Penny Baldwin in Denver disagrees with that assessment. Language in GINA says that the bill will not prevent health insurance companies from using the results of a genetic test for determining a premium, she points out. GINA also says that health insurance companies "should" be careful with genetic information, not that they must be. To protect consumers, she says, "they need to take out the paragraph that says insurance companies can have access to genetic information."
Only the future will tell how GINA will be received. In fact, whether there will be a GINA to be received is still up to the Senate. But cancer experts agree that protections should exist for individuals. "Genetics are an immutable characteristic that people shouldn't be punished for," Baruch says.
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