“Dolly” the cloned sheep prompted a firestorm of debate about reproductive bioethics when she was presented to the world last February. But medical ethicists at the University of Florida and elsewhere suggest that attention should be on a much more relevant “genethical” issue.
“Before addressing cloning or genetic engineering on humans, the more immediate focus should be on genetic information,” says Bill Allen, assistant director of the Program in Medical Ethics, Law and the Humanities at the UF College of Medicine. “New sources of genetic information in unprecedented amounts will affect many more people much sooner than genetic engineering.”
The $3 billion Human Genome Project sponsored by the National Institutes of Health and the U.S. Department of Energy already has identified specific genes which are directly involved in various hereditary conditions such as cystic fibrosis, Alzheimer’s disease and some colon and breast cancers.
This kind of “predictive” genetic information promises to revolutionize medicine, offering physicians advance warning of patients’ potential susceptibility to many disabling or fatal diseases.
But with these new diagnostic tools come new responsibilities and new fears about how they could be used inappropriately.
“The scientific knowledge of human genetic research is growing at a pace which far exceeds our understanding of what we should do with the discoveries once they are made,” U.S. Sen. Connie Mack of Florida said at a 1995 hearing sponsored by the Senate Cancer Coalition.
A 1995 Harris Poll of 1,000 adults nationwide found that 86 percent were concerned about the potential for insurers and employers to use genetic tests in deciding whether to insure or hire someone.
“The reason this is an issue is because we learn very valuable, useful information from genetic testing,” says Ray Moseley, director of UF’s medical ethics program. “We don’t want to scare people away from genetic tests, because they have so much potential to help patients.”
If history is any guide, people have understandable reasons for fearing improper use of genetic information, Allen says. From the Holocaust to forced sterilizations in the United States, even the limited genetic information available in the past was misused.
“The Nazi theories of racial hygiene underlying the Holocaust explicitly appealed to genetic theories, lending a scientific veneer to incomprehensible genocide,” Allen told a Congressional task force in July. “We must approach the vast increase in genetic knowledge with awareness of its power to be put to disastrous, as well as benevolent, use.”
Moseley, Allen and a group of colleagues from UF, the University of Illinois at Urbana-Champaign and New York University Medical Center have spent the last seven years studying one of the hottest genetics-related issues: insurance.
Among their recommendations were that genetic testing should be offered, conducted and interpreted only in the context of health-care delivery by medical personnel well trained in the validity, usefulness and counseling necessary to appropriate care.
Their final report also recommended that employers, insurers and other third parties should not be allowed to require or coerce persons to undergo genetic tests. Persons who could benefit from tests that show genetic predisposition to disease should not be forced to risk losing their health coverage by having the test.
“The history of genetic discrimination partially explains why there is so much sensitivity to uses of genetic information,” Allen says. “Among the most pressing questions are those about how employers and insurers would use genetic information, if it became available to them.”
In response to such concerns, several pieces of legislation have been introduced in Congress that would forbid health insurers from using genetic information as the basis for denying or limiting coverage.
“Americans should never have to choose between saving their health insurance and taking tests that could save their lives,” President Bill Clinton said in support of the bills.
“There is a reciprocal relationship between the protection of genetic privacy and the mitigation of genetic discrimination,” Allen says. “Prohibiting genetic discrimination reduces the incentive of third parties, outside the medical context, to acquire genetic information. Similarly, strong protections for genetic privacy will increase public confidence that the potential health advantages of genetic information will not be used to their detriment.”
In his testimony to the House Task Force on Health Records and Genetic Privacy, Allen argued that human genetic technology should be restricted to health-care uses.
“The Human Genome Initiative was conceived, promoted and funded in order to improve human health,” Allen said. “It was not undertaken to assist employers or insurers in screening out persons with genetic risks. Nor did Congress fund this massive and expensive project to provide a tool for insurance risk assessment.”
Allen adds that letting insurance companies dictate when patients get genetic tests violates fundamental medical and legal principles.
“Allowing parties outside the medical setting to initiate testing undermines patients’ fundamental rights to choose or refuse medical tests or procedures, after being presented with the risks, benefits and alternatives,” Allen testified.
This is especially important in the context of genetic testing, he says, since there are no cures or treatments for some conditions that can be predicted by genetic testing.
“Some persons may not want to know about their risk of a future condition about which they can do nothing except worry,” Allen says.
Moreover, these so-called “predictive” genetic tests only reveal increased susceptibility to genetic factors in disease; they do not allow anywhere near definitive prediction.
For example, the recently identified BRCA1 gene for breast cancer seems to indicate a 50-percent probability that a woman who inherits this gene will develop breast cancer. And if a BRCA1 test shows that a woman does not have the gene, she is still at a very substantial risk of developing breast cancer from non-inherited causes.
“It is a very personal decision whether a woman even would find this information useful enough to take the test, much less base decisions like having a preemptive double radical mastecomy on it,” Allen says.
Even when persons want to know about a genetic condition, they should hear the results from a doctor and not an insurance agent, he adds.
“An entire profession, genetic counselors, has been developed to advise patients on the implications of taking genetic tests,” he says, adding that people outside the health professions, like insurance agents, are not adequately trained to provide such service, and may face conflicting sales pressures.
At this point, insurers are not requiring applicants to undergo predictive genetic tests. Most say they are not interested in requiring genetic tests in the future, but they acknowlege that if one company begins requiring such tests, all companies will be forced to follow suit in order to avoid winding up with a disproportionate number of persons with genetic susceptibilities to disease.
Even if insurers are not allowed to require genetic tests, however, they maintain that they should be able to access the test results of applicants who have received tests from their physicians. Otherwise, they argue, persons with positive results who do not disclose them in their application will have an unfair advantage against the company.
Allen is skeptical that the inability of insurers to know test results will harm the insurers or other policy holders.
“If these tests were like other medical tests on which diagnosis of disease were based, the patient’s failure to disclose would be more problematic,” he says. “The inherent uncertainty of ‘predictive’ tests of genetic susceptibility to disease, however, will not afford patients sufficient foreknowledge to disadvantage the companies appreciably.”
Moreover, Allen notes that people are not likely to buy or drop insurance only for genetic reasons since they will want to maintain coverage for non-genetic conditions and accidents, as well.
In life insurance and disability income insurance, however, exceptions may be warranted for policies with large face amounts of coverage. In the Netherlands, for example, life insurers may access genetic test results for policies over 200,000 guilders. British life insurers have established a voluntary moratorium on the use of predictive genetic test results on policies above 100,000 pounds, since such policies are commonly required to obtain a home mortgage.
Fortunately, genetics research is a rare example of a technological development for which people have tried to anticipate the implications before a crisis occurs.
“Perhaps one of the most visionary components of the Human Genome Project was the creation of a program to examine the ethical, legal and social implications (ELSI) of these new technologies,” says Dr. Francis S. Collins, director of the National Human Genome Research Institute. “The ELSI program is unique among biomedical research programs in its mandate to consider and deal with these issues alongside the development of the technology.”
In fact, 3 to 5 percent of the Human Genome Project’s $3 billion budget is allocated to studying ethical, legal and social issues regarding the availability of genetic information.
“It’s not like the atomic bomb, where, because we were at war, many people didn’t think about, or were not permitted to discuss, the moral implications of what we were doing,” Moseley says. “Because of this commitment to ELSI, bench and clinical scientists are much better versed about the potential implications of what they do, and they take those implications very seriously.”
Ensuring individuals’ control over their genetic samples while also maintaining scientists’ ability to conduct genetic research will present policy makers with unique challenges, Allen says.
“In the past, once blood and tissue samples were separated from a test subject’s body, they seemed no longer connected to the subject’s identity and interests,” he says. “The advent of genetic testing has changed this. A blood sample collected for research on one type of test, for example breast cancer, may years later be used for a type of genetic test, like schizophrenia, that was not even in existence when the patient gave the blood sample and permission for the breast cancer test.”
While no one would want these unanticipated tests to come back and haunt a patient who participated in a test, Allen says it is impractical and expensive to require notification and informed consent to every new aspect of testing that could not have been anticipated at the time of tissue collection.
“Yet the possibility of new test and risk information that can be learned about the test subjects years, even decades, later leaves subjects strangely tied to these blood samples in ways that may affect them unpredictably in the future,” he says.