American Journal of Law & Medicine

An analysis of genetic discrimination legislation proposed by the 105th Congress.

   It was the best of times, it was the worst of times, it was the age of 
   wisdom, it was the age of foolishness ... it was the spring of hope, it was 
   the winter of despair ... we were all going direct to Heaven, we were all 
   going direct the other way.(1) 
   --Charles Dickens 


The Human Genome Project (HGP)(2) provides information about the human genome that will forever alter society and the way we view ourselves.(3) The genetic age offers great potential, including a future where gene and germ-cell therapy may virtually eliminate genetic disease.(4) However, genetic information may also result in a world characterized by genetic discrimination and genetic determinism.(5) Although genetic information will be used to develop revolutionary treatments, such as gene therapy and other molecular medicine, it will also bring genetic discrimination and heretofore unrealized invasions into the privacy of our genetic codes.(6)

Congress and the state legislatures have proposed and enacted legislation to prevent potential abuses of genetic information.(7) However, genetic discrimination legislation(8) enacted thus far leaves several legislative loopholes permitting genetic discrimination.(9) Furthermore, many existing genetic discrimination laws leave unaddressed the issues of genetic privacy and autonomy.(10) Consequently, closing these gaps will require additional legislation.

This Note focuses on genetic testing and discrimination legislation. Part II provides a brief description of the HGP and developments in genetic science. Parts III and IV respectively discuss arguments for and against legislation regulating the use of genetic information. Part V discusses the need for legislation to prevent abuse of genetic information, including a discussion of the various genetic discrimination bills proposed by the 105th Congress. Finally, Part VI concludes that legislation is necessary: to prohibit genetic discrimination by employers and health insurers; to protect individuals' genetic privacy from unauthorized disclosure of genetic information; to protect people from mandatory genetic testing; and to regulate the collection, use, storage and distribution of genetic information. Specifically, this Note argues that Congress should enact the Genetic Privacy and Nondiscrimination Act of 1997(11) or the Genetic Confidentiality and Nondiscrimination Act of 1997.(12) These bills should be reintroduced and enacted by a subsequent session of Congress because the 105th Congress failed to enact either bill.(13)


The HGP(14) is a federally funded project coordinated by the National Institutes of Health (NIH) and the U.S. Department of Energy.(15) Established in 1990, the HGP is scheduled to meet its goal of mapping the entire human genome by 2005.(16) Furthermore, the HGP produces genetic maps and the technology required to store systematically the vast amounts of information contained in the human genome.(17) However, deoxyribonucleic acid (DNA) structural information revealed by the HGP "is only the beginning of biological interpretation," as scientists must then determine what the "[instructions] encoded in human DNA mean."(18)

The human genome(19) is comprised of forty-six chromosomes(20) grouped into twenty-three pairs,(21) and is contained in "[e]ach somatic(22) human cell."(23) Chromosomes contain strands of DNA in the shape of a double helix.(24) These strands of DNA are called chromatin(25) and are "composed of four kinds of molecular sub-units called nucleotides."(26) Scientists estimate that the human genome contains three billion nucleotide base pairs,(27) and that these base pairs are divided into between 50,000 and 100,000 genes.(28) Genes(29) chemically encode hereditary information by "determin[ing] the production of proteins which, in turn, determine the function of each cell and, ultimately an individual's traits."(30) Consequently, genes are responsible for a person's genotype, which represents the "actual genes carried by an individual (as distinct from phenotype, the physical characteristics into which genes are translated)."(31)

Genomic research primarily focuses on mapping the human genome, or "the process of assigning genes to specific chromosomes."(32) Genetic mapping determines where genetic loci are relative to each other "on the basis of how often they are inherited together."(33) As of October 1998, maps to all forty-six human chromosomes have been drawn.(34) Nonetheless, despite the rapid sequencing of the human genome, "fewer than one percent of the more than three billion base pairs comprising the human genome have been sequenced."(35)

HGP research constantly leads to "the discovery of particularized genes responsible for certain diseases."(36) These diseases have "a molecular mechanism of pathology at the gene and protein levels"(37) and are caused by genetic mutation(38) Although "some hereditary diseases can be explained by a single gene, or monogenic,(39) defect.... the majority of genetic diseases are multifactorial, [or are] caused by the interaction of environmental factors and numerous abnormal genes ... on different chromosomes."(40) Gene mapping associates diseases with genes.(41) Consequently, "high quality [genetic] maps have dramatically sped up the discovery of disease genes,"(42) and hasten the day when such knowledge will be used systematically to eliminate genetic disease.(43)

Although the HGP's immediate goal is to "describe the human genome in molecular detail, its longer term goal and more profound impact will be to reveal critical mechanisms of human biology and supply the medical context within which investigations on the molecular pathology of human diseases can most efficiently take place."(44) Consequently, gene mapping technology "will lead to a future medicine in which prevention will be firmly rooted in mechanistic knowledge and potential interventions can be more targeted and effective."(45) Thus, mapping the human genome is only the HGP's penultimate goal.(46) The ability to take information about the human genome and to develop viable gene therapies for most, if not all disease, is the ultimate goal of the HGP.(47) Although gene therapy "technology itself still faces many obstacles before it can become a practical approach for treating disease,"(48) DNA testing has "hastened the day when gene therapy--the medical replacement or repair of defective genes in living human cells--will become a reality."(49)

Genetic testing bridges the gap between contemporary disease gene mapping and the future development of gene therapies, because once disease genes or their approximate chromosomal regions are identified, academic and commercial laboratories will develop gene tests to detect the mutations associated with a disease.(50) After accurate genetic tests are developed, "commercial efforts will shift away from diagnostics and toward developing a new generation of therapeutics based on genes."(51) Gene testing involves an analysis of bodily tissue or fluid, usually blood, for any genetic abnormalities.(52) Genetic technicians take extracted DNA and map the individual's base sequence in order to compare it with known sequences on HGP-created gene maps to determine whether the individual's DNA contains any differences in the base sequence.(53) There are two types of gene tests:(54) gene probes(55) and genetic marker or linkage tests.(56) Gene probes look for a base sequence associated with a disease or genetic predisposition.(57) Linkage tests involve analysis of chromosome segments containing a gene suspected to cause a disease.(58) Moreover, linkage tests require testing several generations of a family with a history of genetic disease to determine whether inheritance of the DNA segment correlates with inheritance of the disease.(59) Although direct gene probes are easier to perform and more accurate than linkage tests, the probes are available for fewer diseases because of their research intensive nature.(60) The price of genetic tests vary between several hundred and several thousand dollars, depending on the sizes of the genes and the number of mutations tested.(61) Genomic discoveries and improved methods for developing genetic tests decrease the cost of such tests.(62) Thus, reducing the cost of genetic testing will soon make widespread genetic testing feasible.(63) Consequently, the likelihood of universal genetic testing raises many ethical issues regarding such testing.(64)

Genomic information produced by the HGP implicate myriad ethical, social and legal issues.(65) Concerns over the possible ramifications concerning HGP research and subsequent discoveries about the human genome led to the development of a program to address the ethical, legal and social implications (ELSI) of genomic research.(66) Congress allocates between three percent and five percent of the HGP's $3 billion budget for ELSI.(67) ELSI represents the first coordinated effort to address the ethical, legal and social implications of scientific research conducted prior to the conclusion of such research.(68) Although access to an individual's genetic defect may prove advantageous to the patient for diagnostic purposes, the risk of access by commercial entities, particularly insurance companies,(69) consternates researchers, academics and legislators alike.(70)


Technological advances in genomic research and electronic manipulation of information make access to genetic information potentially unlimited.(71) Furthermore, a "generally porous medical information system in which the traditional norm of confidentiality has all but deteriorated," inadequately protects privacy interests in medical records.(72) Concerns about maintaining the privacy, integrity and accuracy of genetic information are further exacerbated by the establishment of genomic databases such as the Genome Data Base (GDB), a global repository for genome mapping data.(73) For example, genetic databases containing identifiers linking individuals with their genetic traits would seriously jeopardize genetic privacy.(74) Consequently, as detailed genetic information becomes widely available, many "entities would have a financial stake in obtaining this information."(75)

Unveiling vast amounts of information about the human genome will invariably lead to various forms of genetic discrimination.(76) Specifically, "employers and insurers may believe that genetic discrimination is warranted for business profitability."(77) Therefore, people taking genetic tests may face a serious risk of genetic discrimination.(78) The risks of discrimination can adversely affect them as well because families share genomic information.(79) The potential abuse of genetic discrimination in the employment and insurance contexts concerns some scholars,(80) and may be "the civil rights battle of the next century."(81)

Insurers have already genetically discriminated against consumers by declining coverage.(82) The extent and degree of such genetic discrimination by insurers will increase absent preventative legislation because HGP developments in predicting a person's health will greatly affect the pricing and availability of individual and group insurance.(83) Accordingly, several major insurers have made substantial investments in developing genetic tests for potential screening programs and will likely increase such investments as genetic testing of applicants becomes more feasible.(84) Therefore, the HGP and the knowledge that it reveals about the human genome have had, and will continue to have, serious implications for the health insurance industry.(85)

The specter of genetic discrimination by insurers extends beyond the problem of health care availability for genetic discrimination victims. First, people may refuse potentially life-saving genetic testing services because they fear repercussions to their health insurance coverage.(86) Second, cost-containment pressures may compel insurers to "refuse to pay medical costs if an individual elects not to undergo a certain treatment, or if a child with a prenatally identified genetic defect is born."(87) Fear of genetic discrimination may also chill voluntary participation in genomic research, ironically hampering the research providing insurers with the means to discriminate.(88) Finally, genetic discrimination by employers is a byproduct of genetic discrimination by health insurers.(89)

Genetic discrimination by employers "may be viewed as a subset of health based [genetic] discrimination ... [and] is already a significant problem and likely to get much worse because of the economic pressures placed on employers to reduce health care expenditures."(90) A 1990 report issued by the congressional Office of Technology Assessment found that although companies did not intend to screen applicants genetically in the near future, cost-containment pressures would eventually lead employers to genetically discriminate.(91) Furthermore, employers may genetically discriminate against employees or job applicants for reasons indirectly related to job performance and health care cost containment.(92) Genetic discrimination by employers decreases the availability of health care and thus places greater strain on the public treasury.(93) Public reaction decrying genetic discrimination prompted state legislators to respond with various genetic discrimination laws and bills.(94)


Proponents of legislation prohibiting genetic discrimination make several persuasive arguments to support their position. First, they argue that genetic information creates too much potential abuse by insurers and employers.(95) Genetic discrimination by insurers would increase the number of uninsurable people,(96) and would unfairly limit affordable health care to people already genetically predisposed to remain healthy.(97) Likewise, employers may increasingly use genetic tests to screen applicants and employees.(98) Reports of genetic discrimination already abound in the popular press.(99) Consequently, those individuals born with "defective" genes may face denial of both health insurance and employment opportunities, creating a "biologic underclass."(100) Moreover, not only will genetic discrimination deny people employment and insurance, but it may also shift costs onto society.(101)

For many people, denial of health insurance may be the equivalent of denying them health care itself,(102) Denial of insurance based on genetic test results seriously threatens access to health care,(103) something greatly valued by Americans.(104) Concern about continued access to health insurance, and thus health care, is a major reason for many genetic discrimination bills,(105) Therefore, the public policy of maintaining health care access for most Americans represents an underlying rationale for genetic discrimination bills.(106)

The majority of genetic diseases are polygenic(107) and multi-factorial.(108) This complexity undermines the utility of genetic testing because test results may only indicate a predisposition for a disease, not a conclusive diagnosis.(109) Furthermore, genetic tests inaccurately predict "an illness' severity or age of onset," and do not reflect the role environmental factors play in the manifestation of diseases with a genetic component.(110) Therefore, because many people have genes for various diseases that may or may not develop into illnesses, insurers may incorrectly place unwarranted reliance on genetic tests.(111) Genetic tests only indicate a genetic predisposition for disease based on the presence or absence of a specified genotype.(112) The ambiguous nature of the test results, because of the multi-factorial nature of most genetic diseases, strongly supports legislation prohibiting genetic discrimination.(113)

Furthermore, the ambiguities inherent in genetic test results make them unreliable for use in insurance and employment decisions because "insurers may misunderstand, misinterpret, and misuse genetic information in creating risk classifications and excluding or limiting insurance coverages."(114) Genetic test results do not accurately indicate health risk because such testing fails to provide information about a person's "actual state of health."(115) Additionally, genetic tests are often given greater weight than they deserve, and thus "[w]hat frightens many people is that given scientists' limited understanding of how genetic systems work, insurers will misuse genetic information."(116) Genetic tests differ from other medical tests in that they do not reveal existing health problems, only a likelihood of susceptibility.(117) Accordingly, a 1995 report issued by NIH's National Center for Human Genome Research cautioned against over-reliance on genetic test results.(118)

Everyone has a few bad genes.(119) Given the universality of genetic defects, genetic discrimination by insurers "will threaten the viability of the insurance industry."(120) As "insurance companies force individuals to gain and reveal knowledge about their health futures," insurers will increasingly eliminate potential insurance consumers.(121) However, assuming that insurers have an interest in balancing genetic information with their financial self-interest, insurers will more likely attempt to use genetic information to eliminate claims rather than consumers.(122) Thus, because everyone has a few bad genes, insurers would not eliminate all insureds from the insurance pool, but would probably eliminate coverage for specific conditions for each insured.(123)

Insurers contend that the threat of adverse selection makes necessary underwriters' use of genetic information.(124) However, this argument is unpersuasive. First, if all insurers were denied the use of genetic information, then insurers as a class would be equally subject to the additional costs associated with adverse selection.(125) Thus, if all insurers were proportionally affected by adverse selection, then no single insurer would be at a competitive disadvantage relative to the health insurance industry as a whole.(126) Furthermore, "[i]nsurance is a method of risk-sharing against the unknown, and the more the unknown becomes knowable in advance, the less the current system makes sense."(127) Accordingly, the insurance system should be restructured to accommodate the ability to predict future risks.(128) Denying insurers the use of genetic information provides a powerful economic incentive to develop alternative insurance mechanisms accommodating both insurers' desire to avoid adverse selection and insureds' desire to protect genetic information.(129) The insurance industry must develop a system that spreads genetic risk across the entire pool of insureds to ensure the continued insurability of people with genetic predispositions.(130)

Genetic discrimination unfairly discriminates because of the involuntary and presently immutable nature of our genetic endowment.(131) Accordingly, this immutability provides an inequitable basis on which to make insurance and employment decisions.(132) Furthermore, insurance availability predicated on genetic defects exacerbates the present inequality of health care distribution(133) by providing health care to those people least in need of it.(134) It is inherently unfair to require people to pay more for insurance because of poor genetic make-up because the "American concept of fairness centers on our right of voluntary choice and our correlative responsibility for the freedom to choose" and because the human genome is not a product of volition.(135)

Americans have an expectation of privacy, or the "right to be let alone."(136) Genomic privacy is the right to make an informed determination regarding whether to release genomic information and to whom.(137) The HGP and contemporary technological abilities to store, retrieve and transmit data will seriously challenge our right to genetic privacy, and will likely lead to widespread dissemination of genetic information.(138) Therefore, "the sensitivity of genetic information and the importance Americans historically place on privacy and self-determination argue strongly for a policy that does not hold access to health care hostage to one's willingness to reveal or to discover intimate facts about oneself."(139) Consequently, insurers' access to genetic information threatens genetic privacy and people's right to determine whether they want to be genetically tested.

Autonomy represents an individual's "right not to know" their genetic information.(140) Some choose to avoid knowing their genetic make-up because serious consequences may accompany the acquisition of genomic information.(141) This desire is further exacerbated by the lack of effective treatment for diagnosed diseases and the inability to erase knowledge acquired from genetic test results.(142) Consequently, if insurers and/or employers could mandate genetic testing, individuals would "lose their freedom not to know" their genomic information.(143) Thus, mandated genetic testing threatens autonomy. Mandated testing also forces people to discover genomic knowledge regarding their future lives and deaths.(144) Such revelations may be damaging to people psychologically if they are unprepared for what they learn about their mortality.(145)

Unregulated access by insurers and employers to genetic information, or their abilities to mandate genetic testing, creates potential psychological harm.(146) Potentially unlimited psychological harms resulting from genetic information abuses include: anxiety caused by inaccurate testing; a stigmatic effect; and the harm caused by revealing information about an individual's immutable genome and, in a sense, their mortality.(147) Unadvised revelation of such information can be devastating, affecting every facet of a person's life.(148)


Interest groups, primarily insurers and employers,(149) advocating against legislation prohibiting genetic discrimination "argue that they should not be legislatively prohibited from including genetic test results in their actuarial assessment[s]" and employment decisions.(150) Insurance underwriters(151) attempt to "fairly discriminate"(152) between policyholders to ensure that policyholders presenting lower risks pay lower premiums.(153) Insurers contend that genetic information is merely a more refined method of risk classification and therefore more equitable to those insureds posing lower risk.(154) Furthermore, insurers argue that prohibiting the use of genetic information to create accurate risk classifications will ultimately undermine the financial solvency of insurers.(155) Although insurers acknowledge the discriminatory nature of genetic testing in its application to insurance underwriting, they argue that it is a business necessity and that it is "fair discrimination because it is based on sound actuarial analysis."(156)

Logical extension of the equitable treatment argument leads to the argument that prohibiting insurers from obtaining genetic information will encourage adverse selection,(157) which also evokes concerns of unfair subsidization and premonitions of widespread insurer insolvency.(158) Insurance industry advocates argue that genetic discrimination legislation will create a problem of information inequality between applicants/insureds and insurance companies.(159) Insurers suggest that the resulting imbalance in knowledge will cause them to increase premiums to cover expenses for high-risk insureds who disproportionately buy insurance, thus driving the low-risk insureds out of the market.(160) Consequently, insurers claim that they "would be left with a pool of increasingly unhealthy insureds, many of whom would not be paying appropriately high premiums."(161) Insurers believe that unchecked adverse selection based on an imperfect balance of genetic information will ruin the insurance industry.(162)

However, insurers' adverse selection argument has several problems. First, the adverse selection argument assumes that low-risk insureds will discontinue their insurance coverage because of increased premiums, although there is no explanation of where low-risk insureds would get alternative risk management services.(163) Second, insurers profitably insure the existing pool of insureds, a pool composed of the same low- and high- risk insureds whom they would ensure under a system not based on genetic information.(164) Third, adverse selection would only affect the ten percent of the insurance market that is medically underwritten.(165) Fourth, insurers may pool risk across the individual insurance market insureds because "the actual financial losses for the pool will be close to the aggregate financial losses predicted for the pool by an insurance company."(166) Finally, insurers may limit the effects of adverse selection by charging higher "unfair" premiums only for policies offering unusually rich benefits that most people would not opt for unless they knew of a genetic defect.(167)

Insurers also argue that genetic testing is not significantly different from many types of medical testing already used in underwriting.(168) For example, underwriters presently incorporate medical history and tests as well as other risk factors making illness more or less likely.(169) Therefore, employers and insurers contend that they should be allowed continued access to genetic information that they already have.(170)

In many instances, employers have "assumed the role of the insurance companies and [thus] have a strong financial incentive to reduce their health care expenditures by more accurately assessing health risks."(171) As such, the employers' arguments in favor of genetic discrimination mirror those of the insurance industry.(172) However, inasmuch as employers' interests diverge from those of insurers, they merit discussion. …

Log in to your account to read this article – and millions more.