Everyone involved seems to be grappling with ethical issues arising from the Human Genome Program. The science is still in flux.
Although no one seems to know how to word them, there is general agreement among physicians, attorneys, legislators and managed care executives on one thing about the emerging science of genetic medicine: Development of laws to head off discrimination against patients on the basis of their genetic information is a positive, necessary step. But they also acknowledge that such a step won't be easy to take.
In congressional activity reminiscent of the blizzard of health care reform legislation proposed during the first Clinton administration, six bills to prohibit discrimination by health insurers and employers against people genetically at risk for disease are in various stages of committee work in both the Senate and the House of Representatives.
In a meat grinder
None of the activity so far has brought any change to the status quo at the national level. The Kennedy-Kassebaum bill, passed in 1996 as the Health Insurance Portability and Accountability Act, prohibited discrimination in health insurance on the basis of existing conditions, including genetic disorders. It is the only piece of federal legislation passed into law that has addressed this issue.
Since then, bills from members of both the Senate and the House have become stuck in the congressional meat grinder, making their way into committee but not out. A bill offered by New York Republican Rep. Gerald Solomon is an example of what happens during the arcane dance of legislation. "The Genetic Information Health Insurance Nondiscrimination Act of 1997" is in the House Commerce Committee and the Committee on Education and the Workforce. No action has taken place in over a year, and a legislative aide for Solomon says he does not think any is imminent.
Another bill, introduced by Florida Republican Rep. Cliff Stearns, is also languishing in several committees. Stearns, according to legislative aide Paul Fluche, is working with the Women's Congressional Caucus and other groups to develop a consensus on what genetic testing is — and how the law should deal with it.
On the Senate side, James Jeffords, the Vermont Republican, introduced a bill last year to ensure the privacy of medical records. Shortly thereafter, his Democratic colleague, Connecticut's Christopher Dodd, offered an amendment that would extend that protection to a patient's genetic information.
The Senate Labor and Human Resources Committee held hearings on the bill May 21. Since then, nothing has occurred. Why? Here's a clue: Joe Karpinsky, press aide to the committee, says that during a recent effort to limit debate in the Senate on a cloning bill, the refrain of "Where are we, and what does science know?" was heard many times.
Twenty-three states have enacted laws against genetic discrimination, according to Michael Yesley, a lawyer who has served as the coordinator of the Department of Energy's programs on the ethical, legal and social issues of the Human Genome Program. The 15-year project to identify all 80,000 genes in human DNA is a joint effort of the energy department and the National Institutes for Health.
The laws bar health insurance companies from determining rates or benefits on the basis of an individual's genetic characteristics, Yesley explained at a recent meeting on genetics for health care professionals sponsored by the American Medical Association in New Orleans. The number of people covered under these state laws, he said, is small.
"The state regulations do not cover those who receive their insurance from self-funding employers," Yesley said. "Most large employers do self-fund. Maybe half of the individuals who are insured in a state are not subject to those state protective laws." Self-funding employers create their own insurance pools and, under the federal Employee Retirement Income Security Act, they are exempt from state regulation.
Avoiding this problem and others — including the fact that protection under most of the state statutes is limited to people with individual health insurance policies — requires federal legislation, suggested other speakers at the AMA meeting.
"Only the federal government can regulate the insurers and we must extend the full genetic nondiscrimination protection to the person [covered by self-insured employers]," Democratic Rep. Louise Slaughter of New York told the group. "We must also ensure that these protections are uniform from state to state, rather than relying on the current patchwork of laws that confer different rights on people living on the opposite sides of a state line."
Slaughter is author of the Genetic Information Nondiscrimination in Health Insurance Act, another bill currently in several committees in the House. A companion bill is sponsored in the Senate by Republican Olympia Snowe of Maine.
The Slaughter bill is designed to close some of the loopholes in the Kennedy-Kassebaum law which, in addition to failing to protect employees of self-insured companies, does not prohibit insurers from raising premiums based on genetic status or information.
Look before legislating
All this activity and rhetoric signals caution to physicians and managed care executives. While groups such as the American Association of Health Plans say they support the "principle" of the confidentiality of genetic information, "We are concerned that there not be any unintended consequences to legislation that passes," says AAHP spokesman Don White.
Unintended consequences, he adds, could include keeping genetic information from researchers. "There are research studies that use genetic information in putting together their cohort" while protecting patients' identities, says White. "A lot of the research studies are done on the human genome and are specifically linked to diseases which fall into that category."
Higher premiums for people with genetic susceptibility for disease is not an issue with HMOs, White says, because most enrollees are insured through group plans and do not pay individual rates.
Even so, if the incidence of a disease in a particular area was above the national average, a health plan might have to increase premiums in that area.
The head of the NIH's half of the Human Genome Program, Francis Collins — as well as many physicians — has said that he believes that all illnesses, with the exception of trauma, have some basis in genetic defects.
"We are all at risk for something on account of variation in our genome," geneticist Reed Pyeritz, M.D., said at the AMA meeting. "As physicians and health care professionals, we need to be aware of these risks so we can evaluate our patients' prognoses better and treat them."
Lack of confidence
Being aware of the risks in this early era of incomplete information is not easy, he added. In an impromptu survey, the health care professionals attending the AMA meeting were asked whom they would consult if they knew of a genetic disorder in their immediate families. Fewer than one third said they would consult their primary care physicians. Many, according to the survey, would search the Internet to find genetic information.
The lack of confidence in the amount of genetic knowledge a primary care physician might possess indicates a need to "know a great deal more about our inherited susceptibility," said Pyeritz, who is chairman of the Department of Human Genetics at Allegheny University of the Health Sciences in Pittsburgh. He also emphasized that "the more we know, the more the distress that may accompany this knowledge."
Even when the genome project is completed, around 2005, knowing the entire sequence of 3 billion nucleotides will only be the beginning. Connecting the genome information to the practice of medicine will take much longer.
With this in mind, Elliott Hillback Jr., senior vice president for corporate affairs at Genzyme, a Cambridge, Mass., biotech company, reminded attendees at the AMA meeting why so much public attention is being paid to the Human Genome Program and genetic testing.
"What have we done with genetics? We all ought to step back and think about why we're having this conference and remind ourselves that we created this monster a bit on our own. We have made our own bed and now we have to try to get the wrinkles out of it."
Of the opinion that genetic science is quickly getting to the point where "we can start testing for things," Hillback noted that the issue isn't just testing.
"The issue is about treatment — about managing patients better. I think one of the keys is that the pharmaceutical industry has grabbed this technology and is really trying to use it to define a patient's reaction . . . and to design drugs that will work," he said.
Yesley, the Department of Energy lawyer, echoed Hillback's thoughts when he told attendees that in the future, patients would have much more information about responses and side effects of drugs.
"For that reason alone, genetic information is going to be developed universally. When prescribing a drug in the future, there will be a genetic diagnostic kit that comes along with the drug to allow you to determine if you will have side effects," Yesley said.
But new questions seem to arise for each bit of knowledge gained. What if, Yesley hypothesized, an HMO member took the diagnostic test, found a sensitivity to the drug and was refused that treatment by the HMO? Would that be genetic discrimination? "It's a new possibility," he said. He added that most people would see the refusal as part of the reasonable practice of medicine.
Additional legal concern arises because genetic discrimination laws basically apply to asymptomatic individuals.
"As a result," said Yesley, "we have an odd situation where an individual who has cystic fibrosis is not protected by any of the genetic discrimination laws because she is symptomatic," while another person who has a family history of Huntington's Disease and has tested positive for the gene — but is currently without symptoms — is protected.
Yesley wondered aloud about a set of laws that doesn't protect someone with a disease but protects someone who does not yet have it. "The answer is to take away the incentive for genetic discrimination so that we don't have these weird laws by assuring that everyone will receive health care — whatever their genetic characteristics."
Removing incentives to discrimination in health insurance, is, like everything else in the genetic testing area, a series of challenges to the ingenuity of legislators.
Large insurance companies, for example, frequently write life and health insurance policies. Since few people contest the right of an insurer to know what life insurance applicants know about themselves, genetic predisposition to disease does not necessarily disqualify an applicant. But if that information is transferred from the life insurance department to the health insurance department, the result may be entirely different.
"I think that insurers will tell you that they will keep the two separate, but I'm not the one to ask. Bear in mind that on one hand, where they're selling a group policy for health insurance they are certainly getting individual data because people are putting through claims. It should be possible to run a Social Security number to see if anything comes up," says Yesley.
The waters are murky. Although there are ethical questions because the information obtained for the purpose of life insurance may be used in health care discrimination — thus violating the insurer's duty to the individual — the data don't constitute a certainty.
Genetic tests, Hillback said later during an interview, "can only tell you that one part of your biological makeup is different from the norm. Your environment, what you eat, smoke, drink and breathe, as well as other genes, also have an impact. A test result is only one piece of the puzzle."
The limited number of genetic tests that predict disease with accuracy, such as those for cystic fibrosis or Huntington's chorea, are for single-gene disorders. Most other diseases are multigenic: Many of a person's genes have to be damaged during a lifetime or during inheritance.
Physicians, Hillback concludes, have to be clear and tell people "This is what I know from this test and this is what I don't know. Even with a genetic defect, your risk may be similar to that of a person with slightly elevated cholesterol levels or slightly high blood pressure."