Genetic discrimination is the term commonly assigned to actions taken against or negative attitudes toward a person based on that person's possession of variations in the genome, or variations in the genome of his or her biological relatives. A component of stigmatization, genetic discrimination differentiates social treatment based on assumptions about the value of information suggested by a particular genetic configuration in predicting present and future health status (Condit, Parrott, and O'Grady). The details of one's genome are typically available through genetic tests (Burke). The nature of genetics is such that information derived from one person's genetic composition may implicate or be attributed to the biological siblings and/or descendants of that person. Genetic discrimination illustrates the danger of a misinterpretation—or oversimplification—of information suggested by some genes. Fear of genetic discrimination is often cited as a reason for avoidance of genetic testing services (Rothenberg and Terry).
Empirical evidence of genetic discrimination in contemporary society is somewhat slight (Nowlan). Early reports of genetic discrimination by adoption agencies have not been repeated (American Society of Human Genetics). Nevertheless, fears of genetic discrimination by employers and insurance companies continue to influence decisions regarding submission to genetic testing and participation in certain forms of genetic research. The result may negatively influence individuals' health (Rothenberg and Terry). Efforts to address genetic discrimination include legislation, industry self-restraint, and private action, each controversial for what it suggests about the ability to prevent forms of discrimination.
Some variations in the genome have demonstrated value in predicting the health status of a person. Where a disease is monogenic, like Huntington's disease, its onset is foretold by the presence or absence of a mutation in a single gene (Guttmacher and Collins). The presence and location of single nucleotide polymorphisms (each commonly referred to as a "SNP," pronounced "snip"), may inform decisions in drug therapy by predicting an ability to metabolize a drug or a risk of toxicity (Guttmacher and Collins; Syvanen). In other instances, an enzyme or protein may yield similar information. Efforts to map the human genome with greater specificity, as well as efforts in pharmacogenomics, rely upon comparisons of the patterns of genetic variation in large numbers of people.
Media coverage and other efforts to relate complex concepts in genetics to a lay audience have revealed a tendency to oversimplify the relationship between one's genome and one's destiny. Specifically, the predictive value of genetic information is often overstated. Behavioral genetics, for example, remains in its infancy; few genetic mutations or polymorphisms are thought predictive of intelligence or cognitive ability. With the exception of monogenic diseases, which are relatively rare, the predictive relationship between the genome and disease is compromised by the relative lack of knowledge about the influence of environmental factors. The wide range of more common diseases is a function of interactions between the genome and such factors as diet, climate, and physical activity. Finally, a gap typically exists between knowledge of the discovery of a causal relationship attributable to a particular genetic variation and knowledge of a treatment for the condition at issue.
The result of this oversimplification is genetic determinism (Rothstein, 1999), alternatively termed "genetic reductionism" (Lee, Mountain, and Koenig) or "genetic essentialism" (Nelkin). The terms describe the phenomenon through which the importance of genetic factors is emphasized at the relative expense of environmental and social factors. Together, determinism and discrimination are elements of stigmatization (Condit, et al.). As explained by Celeste M. Condit, Roxanne L. Parrott, and Beth O'Grady in their 2000 article, discriminatory attitudes about genetics get much of their stigmatizing impact from excessively deterministic attitudes about genetics.
Discrimination might manifest in several ways. The use of genetic information by insurers figures prominently in assessments of public attitudes and fears about genetic research and medicine. Theoretically, genetic tests obviate the need for the family medical history common in medical underwriting practices. Relatively few instances of discrimination by an insurance company have been reported, whether because discrimination is difficult to recognize or prove, or because the practice is not prevalent (Rothenberg and Terry).
Within the context of life insurance, the question is whether companies should either require genetic testing or have access to the results of genetic tests documented in medical records in deciding whether to underwrite a policy. Insurance is characterized by a commercial transaction in which the company pays a benefit upon the death of the policyholder in exchange for a premium proportional to the mortality risk assumed by the insurance company (Cook; Nowlan). The fear is that a life insurer would decline to underwrite a policy for a person or family of persons who possess genetic variations that suggests early death. Insurance companies wish to avoid financial harm caused by adverse selection. Adverse selection results when persons who believe they are at a lower risk of illness or early death choose to purchase less insurance or leave the market, while persons who believe they are at higher risk purchase greater amounts of insurance. Ultimately, the money paid in premiums by persons of lower risk is no longer sufficient to cover the expense incurred by insuring persons of higher risk.
Medical underwriting is not as common in the context of medical or health insurance as compared to life insurance (Nowlan). Countries with a national health service extend resources to nearly all citizens without regard to health status; medical underwriting becomes relevant only in the small market for private health insurance. Nevertheless, fears are particularly pronounced in the United Kingdom, where—contrary to other countries, including the United States—life insurance is a requisite to the purchase of a home or other real estate (Cook).
The private health insurance market is much more prominent in the United States than in other countries, but is made available primarily through group plans subsidized by the employer in a voluntary arrangement (Rothstein, 2000). Medical underwriting is a greater possibility in the relatively small market of private individual policies, which can be very expensive.
Initial fears suggested that employers who had access to genetic information would refuse to hire persons with inherited characteristics that suggested greater use of health resources by either the employee or family members. Employers would try to control expenses on healthcare and perhaps absenteeism by pricing premiums in accordance with health status of the employee. Recent legislation in the United States prohibits employers from charging employees of higher risk a higher premium (Health Insurance Portability and Accountability Act of 1996 (HIPAA)). Cases of genetic discrimination primarily involve an employer's attempt to require genetic testing or access to the results of genetic tests already included as medical records as a prerequisite or condition of employment. While state and federal statutes regulate the employer's use of results from genetic testing, other statutes that impose upon the employer a duty to ensure worker safety partially restore access to such medical information (Rothstein).
The eugenics movement and other misguided attempts to translate science into government policy provide support for contemporary fears of stigmatization. Proponents of eugenics, a dominant scientific philosophy from the late nineteenth century through the mid-twentieth century, sought to improve the quality of the human race through social policy based on flawed theories about heritable characteristics (Galton and Galton). Agents of the government dissuaded persons perceived as mentally deficient or possessing an inherently criminal nature from reproducing, sometimes through laws mandating sterilization of groups of persons (Markel). Eugenic principles were consistent with social classification policies implemented in support of Nazi Germany, and contributed to the mass exterminations of persons.
With regard to the issue of race, many who cite concerns of genetic discrimination emphasize the dangers attendant to the racialization of disease or conflating social categories with genetic variations (Lee, et al.). Despite evidence that patterns of genetic variation are greater within racialized groups than between them, resistance to historical patterns of classifying persons by race is neither easy nor simple.
The association of disease with an identifiable human population is a dangerous and often unintended consequence of technology. In the later years of the twentieth century, efforts in the United States to implement policies to help persons afflicted with sickle-cell disease, a heritable disease, proved disastrous. A push for early diagnosis and treatment yielded several state laws that mandated screening African Americans for the disease. The years following the passage of these laws were marked by an increase in acts of discrimination by government, insurers, and employers against persons afflicted with the disease, as well as against persons who were merely carriers of the trait (Markel). The disease became associated with African-Americans in a way that illustrated the dangers and improvidence of conflating race with a particular genetic composition. The foregoing demonstrates the perils of premature and perhaps shortsighted policymaking.
At the beginning of the twenty-first century, there were reports of discord within the Jewish community regarding genetic testing (Schwartz, Rothenberg, Joseph, et al.). Following the identification of mutations in BRCA1 and BRCA2 that are associated with a higher risk of breast or ovarian cancer, many supported testing as critical to prevention and treatment of women who carry the mutation, while others discouraged participation based on fear of stigmatization (American College of Medical Genetics). This reaction against genetic testing was based in part on a controversial history of research on Tay-Sachs disease. The knowledge gap between the ability to predict a condition and the ability to treat it created uncertainty and the opportunity for misinterpretation of existing information.
Fear vs. Fact
Some have observed that the greatest danger with respect to genetic discrimination stems from unsubstantiated fears of discrimination. Several studies document the effect of anxiety about the possibility of genetic discrimination on participation in genetic testing or screening procedures (Geer, Ropka, Cohn, et al.). Exaggerating the size of the problem promotes genetic determinism and feeds fears that inhibit participation in research and therapy.
The literature identifying the factors motivating an individual to participate in tests that yield genetic information useful in determining susceptibility to disease or illness reveal several themes. The desire to help a relative is commonly cited as a motivating factor (Applebaum-Shapiro, Peters, O'Connell, et al.). The relative paucity of empirical data as to the prevalence of discrimination does not influence public attitudes regarding a willingness to participate or fears of discrimination or stigmatization (Hall and Rich).
An individual's wish to avoid negative treatment based on deterministic attitudes can manifest in several ways. An individual may refuse to be tested for a particular trait even if necessary for diagnostic purposes. Alternatively, the person may opt to test anonymously or to pay for the test without filing an insurance claim—even if the test is covered—in an attempt to keep such information from the employer or medical insurer. For example, in the first years after the significance of the BRCA1 and BRCA2 mutations was announced and a predictive test made available, there emerged anecdotes in which persons took steps to conceal information from becoming a part of their medical records (Schwartz, et al.).
The power of the fear of genetic discrimination to direct behavior is central to debates regarding the need for curbs on such discrimination through social policy (Greely). The degree of restriction is often related to the degree of harm threatening economic and other values. In the United Kingdom, the strong relationship between life insurance, home ownership, and the effect of perceptions of danger on the national economy prompted a national investigation (Cook). At least partially to avoid more restrictive measures, the British life insurance industry declared a voluntary, qualified moratorium on policies. Some have suggested that industry self-restraint is preferable to overreaching or imprecise legislation (Nowlan). Critics contend that industry self-restraint can not serve as a sufficient deterrent to actions that could otherwise yield economic benefit.
Legislation plays a relatively more prominent role in policies regulating genetic discrimination in the United States. Absent a single, uniform statute at the federal level, the laws of individual states address genetic discrimination. The actions of employers and other entities are also subject to provisions within federal statutes that regulate the workplace and the marketplace (Pagnattaro). Legislation passed in the 1990s regulates the dissemination of medical records that could contain the results of genetic tests (HIPAA). Such regulation reflects the heightened value afforded privacy and confidentiality, particularly within the United States, in an era of advanced medical and informational technology.
Several scholars have criticized the use of legislation prohibiting genetic discrimination as premature and unnecessary government interference in a free market system (Epstein). Citing flaws in the legislative approaches to discrimination in other contexts, these scholars question the fairness of protecting the concealment of information that may have legitimate value. Others emphasize the absence of evidence of genetic discrimination by health or life insurance companies (Nowlan). To enact legislation on the basis of a problem that exists primarily through anecdotes, critics argue, is to validate fears that are unsubstantiated (Nowlan).
Still others praise legislation prohibiting genetic discrimination as an effective means of allaying the fears of the public (Greely). Legislation is a vehicle for establishing a shared consensus on the values underlying the matter. The cost of "symbolic" legislation, however, remains a matter for debate (Hellman).
More important than the prohibition of the actual behavior is the need to allay the concerns of persons acting on the basis of such fears. This is the challenge facing those who would shape public policy on the use of genetic information. Deterministic attitudes underlie fears of discrimination, as well as the actual discriminating conduct. The ability to surmise from one person's genetic information details about another will influence traditional notions of autonomy and even self-determination. The idea that stigmatization might follow from participation in genetic testing or other research is an obstacle to the optimization of the benefits in health and resources that are increasingly available through advances in genetic technology.
phyllis griffin epps
SEE ALSO: Access to Healthcare; DNA Identification; Eugenics; Genetic Counseling, Ethical Issues in; Genetics and Human Self-Understanding; Human Dignity; Human Rights; Justice; Patients' Rights; Population Ethics; Race and Racism
Applebaum-Shapiro, S. E.; Peters, J. A.; O'Connell, J. A.; Aston, C. E.; et al. 2001. "Motivations and Concerns of Patients with Access to Genetic Testing for Hereditary Pancreatitis." American Journal of Gastroenterology 96: 1610–1617.
Burke, Wylie. 2002. "Genetic Testing." New England Journal of Medicine 347(23): 1867–1875.
Condit, Celeste M.; Parrott, Roxanne L.; and O'Grady, Beth. 2000. "Principles and Practices of Communication Processes for Genetics in Public Health." In Genetics and Public Health in the 21st Century: Using Genetic Information to Improve Health and Prevent Disease, ed. M. J. Khoury, W. Burke, and E. Thomson. New York: Oxford University Press.
Cook, E. David. 1999. "Genetics and British Insurance Industry." Journal of Medical Ethics 25: 157–162.
Epstein, Richard A. 1994. "The Legal Regulation of Genetic Discrimination: Old Responses to New Technology." Boston University Law Review 74: 1–23.
Galton, David J., and Galton, Clare J. 1998. "Francis Galton: And Eugenics Today." Journal of Medical Ethics 24: 99–105.
Geer, Katherine P.; Ropka, Mary E.; Cohn, Wendy F.; et al. 2001. "Factors Influencing Patients' Decisions to Decline Cancer Genetic Counseling Services." Journal of Genetic Counseling 10(1): 25–40.
Greely, Henry T. 2001. "Genotype Discrimination: The Complex Case for Some Legislative Protection." University of Pennsylvania Law Review 149: 1483–1505.
Guttmacher, Alan E., and Collins, Francis S. 2002. "Genomic Medicine—A Primer." New England Journal of Medicine 347(19): 1512–1520.
Hall, M. A., and Rich, S. S. 2000. "Genetic Privacy Laws and Patients' Fear of Discrimination by Health Insurers: The View from Genetic Counselors." Journal of Law, Medicine and Ethics 28: 245–247.
Health Insurance Portability and Accountability Act of 1996 (HIPAA), Pub. L. No. 104–191, 110 Stat. 1936. 1996.
Hellman, Deborah. 2003. "What Makes Genetic Discrimination Exceptional?" American Journal of Law and Medicine 29: 77–116.
Lee, Sandra Soo-Jin; Mountain, Joanna; and Koenig, Barbara A. 2001. "The Meanings of 'Race' in the New Genomics: Implications for Health Disparities Research." Yale Journal of Health Policy, Law, and Ethics 1: 33–68.
Markel, Howard. 1992. "The Stigma of Disease: Implications of Genetic Screening." American Journal of Medicine 93: 209–215.
Nelkin, Dorothy. 2002. "A Brief History of the Political Work of Genetics." Jurimetrics Journal 42: 121–132.
Nowlan, William. 2002. "A Rational View of Insurance and Genetic Discrimination." Science 297: 195–196.
Pagnattaro, Marisa Anne. 2001. "Genetic Discrimination and the Workplace: Employee's Right to Privacy v. Employer's Need to Know." American Business Law Journal 29: 139–185.
Rothenberg, Karen, and Terry, Sharon. 2002. "Before It's Too Late—Addressing Fear of Genetic Information." Science 297: 196–197.
Rothstein, Mark A. 1999. "Behavioral Genetic Determinism: Its Effects on Culture and Law." In Behavioral Genetics: The Clash of Culture and Biology, ed. R. A. Carson and M. A. Rothstein. Baltimore: Johns Hopkins University Press.
Rothstein, Mark A. 2000. "Genetics and the Work Force of the Next Hundred Years." Columbia Business Law Review 2000: 371–402.
Schwartz, Marc D.; Rothenberg, Karen; Joseph, Linda; et al. 2000. "Consent to the Use of Stored DNA for Genetics Research: A Survey of Attitudes in the Jewish Population." American Journal of Medical Genetics 98: 336–342.
Syvanen, Ann-Christine. 2001. "Accessing Genetic Variation: Genotyping Single Nucleotide Polymorphisms." Nature Reviews Genetics 2: 930–940.
American College of Medical Genetics. 1996. "Statement on Population Screening for BRCA–1 Mutation in Ashkenazi Jewish Women." Available from <http://www.faseb.org/genetics/acmg/pol-24.htm>.