pp. 20-25 in
Bioethics in Asia
Editors: Norio Fujiki and Darryl R. J. Macer, Ph.D.
Eubios Ethics Institute
Copyright 2000, Eubios Ethics Institute
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1.2. Legislative Challenges of the Human Genome
Michael S. Yesley.
Los Alamos National Laboratory, Los Alamos, USA
The prospect of genetic discrimination has caught the attention of lawmakers in the United States. Within the past two years, the federal government and 16 state governments have enacted laws to control the use and disclosure of genetic information about individuals. More than half the states now have such laws, including 22 states that prohibit genetic discrimination in health insurance and 10 states that prohibit genetic discrimination in employment. Nearly all these states also have measures to protect genetic privacy. At the national level, a 1996 law sponsored by Senators Kennedy and Kassebaum limits the use of genetic information to exclude individuals from small-group health insurance provided by employers, and the Equal Employment Opportunity Commission has indicated it will apply the Americans with Disabilities Act (which does not specifically mention genetic discrimination) to prevent genetic discrimination in employment (1).
More laws on genetic discrimination and privacy appear likely. President Clinton has called for additional legislation to expand the federal provisions on genetic discrimination in health insurance. Several bills have already been proposed in Congress to provide broader protection against genetic discrimination in both health insurance and employment, and similar measures are pending in many of the states that have not yet acted in this area.
Today I shall briefly review the empirical research on the incidence of genetic discrimination and discuss some issues raised by genetics legislation related to insurance and employment. Legislators in the U.S. are most concerned about discrimination in health insurance, because our health system relies heavily on private insurance in this area. International organizations and countries that provide universal health coverage are undoubtedly more interested in preventing genetic discrimination in employment.
Evidence of Discrimination? The flurry of legislative activity in the U.S. might give the impression that genetic discrimination is already a significant problem, but to date there is little evidence that discrimination of the kind prohibited by the new laws has occurred at significant levels. Three empirical studies reported in U.S. journals (2) have collected and described instances of discrimination or actions that survey respondents consider to be genetic discrimination. But these data are not based on representative sampling and, consequently, do not indicate the frequency of occurrence of genetic discrimination.
Furthermore, the most recent published study (3), which is often cited in support of genetic anti-discrimination legislation, surveyed respondents' experience of genetic discrimination without distinguishing among the consequences of having a genetic disease, being related to someone with a genetic disease, and having an unexpressed gene associated with a genetic disease. As a result, it is not possible to determine whether discrimination was reported by asymptomatic persons at risk for a genetic disorder or persons already affected by a genetic disorder. Discrimination based on the presence of a genetic disorder is not customarily considered genetic discrimination, and virtually all the new laws prohibit only discrimination based on genetic characteristics in asymptomatic individuals.
The empirical studies also included cases of genetic discrimination in life insurance, which no legislature has prohibited. The few states with laws on genetic discrimination in life insurance do not prohibit discrimination but merely require that any genetic factors considered in underwriting must have a sound actuarial basis. In other words, the laws prohibit only "unfair discrimination" that does not truly reflect individuals' life expectancies. Thus, the empirical studies are based on selective sampling and include categories of discrimination that are not genetic or not unfair. One must conclude there is little empirical support for legislation on genetic discrimination at present.
Rather than hard evidence of genetic discrimination, concern about the future - potentially anyone's future - is fueling the flurry of legislation. Each widely reported discovery of "the gene for" another disorder raises both hope for a cure and concern about discrimination during the interim before a cure is found. Even if genetic discrimination is not yet occurring, it seems so probable that preventive steps should be taken. Unfortunately, although legislative efforts to anticipate this problem are well-intentioned, many of the resulting laws may be ineffective, impracticable, counterproductive, ambiguous, or too narrowly focused on genetics. Some of these failings result from peculiarities of the political and legal system in the U.S., but others result from challenges that will complicate any legislative effort to prohibit genetic discrimination or protect genetic privacy. In the following discussion, I shall concentrate on those challenges.
Defining "Genetic." International treaties on bioethics establish broad principles to be implemented by internal law. Thus, the Council of Europe Convention and UNESCO Declaration simply prohibit discrimination "on grounds of .@ "on grounds of .@.@. genetic heritage" (4) or "sed on genetic characteristics."(5) However, the statutes implementing these broad principles must be more specific to enable practical application. Although those who have worked so hard on the treaties may think otherwise, the devil is in the details of the implementing legislation. One important detail is the scope of the term "genetic" - what kinds of information or characteristics shall be considered genetic and consequently prohibited as a basis for discrimination?
In the U.S., most state laws on genetic discrimination include definitions of "genetic characteristic" or "genetic information" so that insurers or employers will know what sorts of information they may not use. The definitions specify the results of genetic testing, of course, and some also specify the results of biochemical and other indirect tests to determine the presence of a gene. In six states the definitions also include family history. A few states specifically exclude the results of routine medical tests, although some tests, like cholesterol level, may indicate the presence of certain genetic characteristics. As noted by an _ XE gNIHh _ task force on genetics and health insurance, the categorization of health risk information as genetic or non-genetic is becoming increasingly difficult, and most contents of medical records will soon have genetic significance (6).
Laws that limit the definition of genetic information to the results of laboratory tests are easier to implement but may not provide sufficiently broad protection. Employers and insurers in states where such laws are in effect know they cannot use genetic test results to discriminate. But the laws do not prevent them from substituting indirect tests or family history to obtain information about genetic predisposition, albeit with less precision, and using such information as a basis for discrimination. The scope of protection against genetic discrimination is significantly expanded in the states with definitions that include family medical history as well as genetic test results. Commentators have noted, however, that including family history in the definition of genetic information may introduce practical problems of segregating such information in medical records (7).
Distinguishing Genotype and Phenotype. Whether genetic information is defined narrowly or broadly in the laws barring genetic discrimination, it usually does not include information about expressed genetic disorders. The quintessential feature of genetic discrimination is the use of genetic information about an asymptomatic person. If a disorder related to a genetic characteristic has occurred, discrimination based on the disorder may be unfair but is not customarily considered "genetic."
Some state laws specifically limit protection to asymptomatic individuals, but the effect is the same if a law merely prohibits discrimination based on genetic information: an individual with a genetic disorder is protected from discriminatory use of genetic test results, but not from discrimination based on the presence of the disorder itself. Other laws, not specific to genetic discrimination but protective of all persons with disabilities, may prohibit discrimination based on an existing genetic disorder. The laws that focus specifically on genetic discrimination are intended to protect asymptomatic individuals.
If it seems odd to limit the category of genetic discrimination in this fashion, consider that although an individual who has a genetic disorder is not responsible either for the disorder or the gene that caused it, lack of responsibility is not the crucial element of genetic discrimination. Rather, it is the fact that the distinguishing factor on which discrimination is based - in this instance a gene, but the same could be said of race or sex - does not currently affect the individual's capabilities or health. We do not prohibit racial and sex discrimination because an individual is not responsible for being born black or female, but because those characteristics are irrelevant to the individual's capabilities and should not be allowed to limit the individual's opportunities.
Similarly, an unexpressed gene, which does not affect an individual's health or capabilities, should not be allowed to limit the opportunities of an individual with that gene. If the individual does become affected by a genetic disorder in the future, then, from the perspective of anti-discrimination measures, the disorder will be no different from a disorder without a genetic association. The protection given to persons with disorders - the Americans with Disabilities Act, for example - does not depend on whether those disorders have genetic causes.
Fair and Unfair Discrimination in Insurance. I have mentioned that many genetic discrimination laws in the U.S. focus on use of genetic test results but not other genetically relevant information, and, further, that the genetic discrimination laws generally prohibit discrimination based on genotype but not discrimination based on the related phenotype. Even more significant than these distinctions, some laws implicitly acknowledge that under certain circumstances genetic discrimination may be fair and permissible. These exceptions have been carved out in the areas of life insurance and, to a lesser extent, employment. In those areas, unlike health insurance, the U.S. is in the same position as most other countries, and our experience should be of general interest.
Genetic discrimination is unfair when an individual is treated differently (1) on the basis of a genotype that is mistakenly associated with an unfavorable phenotype, or (2)@s of a genotype that is mistakenly associated with an unfavorable phenotype, or (2)@under circumstances in which everyone has a right to the same treatment, regardless of genotype. Thus, discrimination based on mistake is never justified, but discriminion based on accurate genetic prediction is not justified only when society has determined genetic differences must be disregarded. I would argue that such a social determination should be made for some, but not all, circumstances involving genetic discrimination. The UNESCO Declaration, for example, does not condemn all genetic discrimination, but only genetic discrimination that infringes human rights, fundamental freedoms and human dignity (8). In their implementing legislation, countries or states will specify the circumstances when genetic discrimination infringes human rights. (To the contrary, the Council of Europe's Convention on Human Rights and Biomedicine broadly prohibits "any form of discrimination against a person on grounds of his or her genetic heritage" (9) - an absolute and unworkable standard.)
When unfairness arises from error, correction should not be controversial. The early experience with sickle cell screening provides a good example of this kind of unfairness. In the 1970s a screening test was developed that did not distinguish between sickle cell trait and disorder. Many carriers of the trait who tested positive lost employment or were denied insurance, although the recessive gene would never affect them (10). In response, several states prohibited discrimination on the basis of sickle cell or other traits that might affect offspring but not the carriers themselves. These laws were the precursors of the broader prohibitions against genetic discrimination that many states have adopted in the 1990s.
Another example of unfair genetic discrimination resulting from mistake would be a denial of life insurance on the basis of a genetic characteristic that does not affect life expectancy. Every state requires that all factors considered in underwriting must have a sound actuarial basis. In fact, denying life insurance or charging more than competitors on the basis of inaccurate data would not be in the insurers' own best interests, and so there is a self-enforcing incentive to be actuarially correct.
Still, a few states, fearful of a perceived threat from genetics, have specifically prohibited "unfair" genetic discrimination in life insurance. For example, New Jersey's recent Genetic Privacy Act (11) includes provisions barring genetic discrimination in both health and life insurance. But the provisions in each of these areas are quite different. With respect to health insurance, the statute flatly prohibits discrimination or exclusion "on the basis of any genetic characteristic." With respect to life insurance, however, the statute bars only "unfair discrimination," described as an application of genetic information that is "not reasonably related to anticipated claim experience." Thus, New Jersey prohibits all genetic discrimination in health insurance but permits genetic discrimination in life insurance if it is accurately correlated with life expectancy.
Why does New Jersey treat genetic discrimination in health and life insurance so differently? The answer to this question lies in the relative importance and the potential consequences of regulating the use of genetic information in these two areas of insurance. Health coverage is clearly of fundamental importance. Some view it as an individual right because of its importance to the enjoyment of life. Others see the value of health coverage in enabling the social economy to function more efficiently. Under either view, health coverage is a public responsibility, and fairness requires the sharing of risk and the same treatment of every individual. Although the U.S. does not have universal health care, the federal and state governments have recognized this responsibility by adopting a variety of regulations to promote access to private health insurance (12), including the laws that prohibit genetic discrimination.
Like health insurance, life insurance is a public as well as a private good, promoting saving and intergenerational responsibility as well as protecting one's surviving dependents. However, life insurance is viewed more as a matter of personal responsibility and choice, based on an individual's attitude toward the risk of premature death and generosity to survivors. In the case of life insurance, there is nothing comparable to the belief that health coverage should be universal. Fairness in life insurance requires treatment that accurately matches an individual's own health status and risk. Life insurers do not play the quasi-public role of health insurers in the U.S. but are recognized as private parties entitled to protect their interests and, ultimately, the interests of those who wish to purchase life insurance. Accordingly, the argument that prohibiting genetic discrimination would result in moral hazard and adverse selection, which has carried little weight for regulators of health insurance, has so far convinced legislators not to prohibit the use of genetic information but only to require that it be used accurately in life insurance.
Fair and Unfair Discrimination in Employment. Ten states prohibit genetic discrimination in employment. Most of these states regulate genetic testing by employers, ranging from a total prohibition of genetic testing as a condition of employment, to allowance of voluntary testing, to allowance of mandatory testing. New York is the only state to permit mandatory testing, where "the employee or applicant with a particular genetic anomaly might be at an increased risk of disease as a result of working in [the occupational] environment." (13) Whether or not they permit genetic testing by employers, all 10 states prohibit denial of employment on the basis of genetic test results. Thus, in the states where employers may offer or require genetic testing, the employees themselves decide what use, if any, to make of their test results.
Several states that prohibit genetic discrimination in employment have exceptions permitting employers to conduct genetic tests in order to determine ability, "functional standards" for a job, or "bona fide occupational qualification." The legislators probably misunderstood the significance, or lack of significance, of these exceptions, for genetic testing cannot identify such factors. Functional standards and bona fide occupational qualifications relate to factors that currently prevent an employee from doing a job, not a risk of future disability. Clearly, unless it is expressed, a genetic characteristic revealed through testing cannot affect job performance.
Still, the legislators' unaccomplished goal of recognizing the potential relevance of genetic difference in the occupational setting reflects a long tradition of avoiding total bans on discrimination in employment. For example, the International Labor Organization's convention on employment discrimination, adopted in 1958, permits an exclusion or preference based on the "inherent requirements" of a job (14). And the U.S. Civil Rights Act of 1964 permits employment discrimination for a "bona fide occupational qualification reasonably necessary to the normal operation of that particular business or enterprise." (15) The challenge, in the context of genetic and other discriminatory classifications, is to determine what is an "inherent requirement" of a job? Or, in the words of the UNESCO Declaration, when does genetic discrimination by an employer infringe human rights?
The boundary between fair and unfair discrimination in employment is difficult to define. The variety of state laws prohibiting genetic discrimination in employment reflects diverse policy considerations, including anti-discrimination, protection of employees' autonomy and privacy, occupational safety, and workplace efficiency. These considerations often conflict with each other and pose a challenge to lawmakers with limited mechanisms to balance the different goals. In balancing workplace safety against anti-discrimination concerns and respect for employees' privacy and self-determination, the states have placed greater value on the latter considerations. The laws recognize the safety concern by permitting genetic testing for susceptibility under certain conditions, but the considerations of autonomy and privacy outweigh safety, since the employees themselves determine what use to make of the test results.
This approach seems appropriate at present, because it maintains pressure on employers to eliminate hazardous exposures from the workplace rather than exclude susceptible employees, and because few, if any, genes for occupational susceptibilities have yet been identified. With further advances in genetics, however, circumstances may arise under which discrimination against occupationally susceptible individuals might be considered acceptable and prudent. Although several steps should be considered or taken before permitting exclusionary policies, e.g., making the workplace safe for everyone, verifying scientific evidence of genetic susceptibility, and informing employees of the risks, (16) situations justifying exclusion - albeit hypothetical at present - are conceivable.
Hypothetical Cases. For example, there would be a very strong argument for mandatory exclusion of susceptible employees if a rare genetic mutation, together with an occupational exposure, causes a disorder that is invariably fatal within a short time of exposure; and the disorder always occurs when the mutation is present and never occurs when the mutation is not present; and elimination of the exposure from the workplace is not feasible. Under these circumstances, the safety concern would clearly dominate the anti-discrimination, privacy and autonomy interests of the employees. None of the current state laws would permit mandatory exclusion under these circumstances, however.
Alternatively, if a mutation is common and does not substantially increase the risk from an occupational exposure; and the associated disorder is mild, slow to manifest, and treatable; and the hazardous exposure could easily be eliminated, any sort of exclusionary policy would be unjustified. To the contrary, we would expect the employer to eliminate the risk from the workplace.
The intermediate, gray area requires careful balancing of the various interests and concerns, and it may elude consensus on the appropriate regulatory response. In the gray area, a moderately prevalent mutation increases the risk of a nonfatal disorder that will not manifest for several years and may be treatable. If the exposure to which the mutation is susceptible could be eliminated at moderate cost, the employees' interests in safety, anti-discrimination, autonomy and privacy would dominate the employer's interest in efficiency. Indeed, elimination of potentially harmful workplace exposures at reasonable cost is always the most desirable alternative. But if it is not feasible to eliminate the exposure, the safety interest conflicts with the interests in anti-discrimination, autonomy and privacy. Some would insist that notice of the potential risk be given to employees and a test for the susceptibility gene be offered or required, but that the employees determine for themselves whether to avoid the risk. Others, weighing the safety or efficiency interests more heavily, would favor mandatory exclusion of susceptible persons. Unfortunately, the state legislation provides no flexibility to make this determination.
There are many challenges to the development of effective legislation on genetic discrimination, and not much evidence yet that genetic discrimination is a significant problem. Still, legislators persist in passing laws on genetic discrimination. These laws may not protect many people and may even reduce or prevent the protection that genetic knowledge might otherwise enable. The problem of misdirected legislation on genetic discrimination is due in large part to misinformation and exaggeration about the power of genetics. The author of a genetic discrimination law recently adopted in Texas stated: "With genetic tests, insurance companies can virtually eliminate the guesswork in underwriting. They can seek out people who are genetically pure, creating a ghetto of the uninsured, because they will know who is likely to get a particular disease at a particular age." (17) This statement - clearly a gross exaggeration - is typical of comments made by some supporters of genetic legislation. Genome scientists have a responsibility to present their work and discoveries to the public in ways that indicate the limits, as well as the promise, of genetics. That would be a good start toward more finely tuned legislation directed at unfair uses of genetic information.
1. Under the federalist system of government in the U.S., both the federal and state governments may adopt laws on the same subject. Federal and state laws each have advantages: federal law imposes uniform national rules, but a variety of state laws on a particular subject enables comparison to determine the most effective approach. A federal law preempts (has precedence over) a state law on the same subject if (i) there is a conflict between the two laws or (ii) the federal law expressly bars state lawmaking on the subject.
2. Billings, Kohn, de Cuevas et al., Discrimination as a Consequence of Genetic Testing, Am.J.Hum.Genet. 50:476-482, 1992; Geller, Alper, Billings et al., Individual, Family, and Societal Dimensions of Genetic Discrimination: A Case Study Analysis, Science & Engineering Ethics, 2:71-88, 1996; Lapham, Kozma & Weiss, Genetic Discrimination: Perspectives of Consumers, Science, 274: 621-624, 1996.
3. Lapham, Kozma & Weiss, supra.
4. Council of Europe, Convention on Human Rights and Biomedicine, Article 11: "Non-discrimination. Any form of discrimination against a person on grounds of his or her genetic heritage is prohibited."
5. International Bioethics Committee of UNESCO, Universal Declaration on the Human Genome and Human Rights, Article 7: "No one shall be subjected to discrimination based on genetic characteristics that is intended to infringe or has the effect of infringing human rights, fundamental freedoms and human dignity."
6. Task Force on Genetic Information and Insurance, _ XE gNIHh _-DOE Working Group on Ethical, Legal, and Social Implications of Human Genome Research, Genetic Information and Health Insurance (1993).
7. See Annas, Glantz and Roche, The Genetic Privacy Act and Commentary (1995).
8. Supra, note 5.
9. Supra, note 4.
10. See Bowman, Genetic Screening: Toward a New Genetics? In: Dual and Goering, "It Just Ain't Fair" The Ethics of Health Care for African Americans (1994).
11. Genetic Privacy Act, 1996 N.J. Laws, Chapter 126.
12. For example, requirements for guaranteed issue, portability, limitations on preexisting condition exclusions, and minimum participation in small group health plans, imposed by HIPAA at the federal level and statutes in nearly every state. The state measures are surveyed in Government Accounting Office, Health Insurance Regulation: Variation in Recent State Small Employer Health Insurance Reforms, GAO/HEHS-95-161FS.
13. N.Y. Exec. Law 296, subdiv. 19(B).
14. International Labor Organization, Convention concerning Discrimination in Respect of Employment and Occupation, Article 2: "Any distinction, exclusion or preference in respect of a particular job based on the inherent requirements thereof shall not be deemed to be discrimination."
15. 42 USCA 2000e-2(e).
16. See Draper, Risky Business: Genetic Testing and Exclusionary Practices in the Hazardous Workplace (1991).
17. Texas State Representative Brian McCall, quoted in a Los Angeles Times editorial on November 1, 1997.
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