Genophobia: what is wrong with genetic discrimination?

• Author: Diver, Colin S.

INTRODUCTION

The decoding of the human genome, announced with great fanfare by President Bill Clinton and Prime Minister Tony Blair in June, 2000,(1) marked a hugely symbolic milestone in the progress of genetic science. Mapping the roughly three billion nucleotide pairs that comprise the human genetic profile is a monumental achievement of human ingenuity and technological sophistication.(2) Yet, before the knowledge unleashed by the Human Genome Project can be widely used to improve human health and welfare, much work remains to be done.(3) Scientists must first locate, along the 23 paired human chromosomes, the currently estimated 30,000 genes that do all of the real work: that build and repair the body and regulate its functions.(4) Within that universe of genetic material, they must then isolate those specific genetic variations--alleles,(5) mutations, or polymorphisms--that are associated with particular, adverse physical or psychological conditions, such as diseases, functional impairments, and perhaps even socially maladaptive behaviors. Epidemiologists must then study the statistical link between the presence of a particular genetic profile and the manifestation of a particular condition, while proteomics specialists explore the biochemical pathways by which the proteins produced by particular genetic mutations inhibit or otherwise modify normal bodily functioning.(6)

Yet, daunting as the challenge may prove to be, progress is being made at almost breathtaking speed. Every week, breakthroughs are announced in the search for genes, the cataloging of alleles, the identification of their functions, and the estimation of risk factors. Perhaps the most dramatic payoff from this unfolding progress is the development of genetic tests for predisposition to various diseases and functional impairments. Tests already have been developed to identify the presence of over four hundred particular alleles or polymorphisms that are linked to diseases such as Huntington's Disease, cystic fibrosis, sickle-cell trait, Duchenne's muscular dystrophy, and breast and colon cancer.(7) At present, genetic testing is used primarily to diagnose adverse health conditions currently experienced by symptomatic patients or to predict the onset of conditions in persons identified by their family histories to be at risk of genetic disease.(8) But, as the range and accuracy of genetic tests increase and the cost of their administration falls, one can foresee a day when anyone may readily and inexpensively obtain a genetic profile that can identify, or rule out, any of thousands of conditions for which he or she may be at elevated risk.

The prospect of widespread genetic testing has stirred in the popular imagination optimism and anxiety in roughly equal measures. The basis for the optimism is obvious. Accurate, comprehensive, and inexpensive genetic testing, coupled with reliable epidemiological evidence of the probability of expression, promises dramatic improvement in the early detection and prevention of disease. Such knowledge should enable an individual to take preventive steps such as medication, medical monitoring, prophylactic surgery, or behavioral and environmental modifications that may be wholly or partially effective at staving off or even eliminating the onset of disease. Knowledge of this sort can also help people to make discerning educational and career decisions, investment and wealth-transmission plans, work and insurance-related risk assessments, and reproductive choices.(9)

The scientific breakthroughs that make genetic testing possible also promise to spawn dramatic improvements in the treatment of disease, ranging from improved use of the existing pharmacopoeia, to the creation of new pharmaceuticals targeted to persons with particular genetic profiles, to a range of gene therapy interventions designed to neutralize "bad" genes.(10) What is more, the epidemiological findings made possible by the new genetics can aid in the creation of improved environmental, engineering, and behavioral strategies for preventing disease and other functional impairments.

At the same time, the prospect of genetic screening has engendered widespread popular apprehension. One source of this apprehension may be the fear, attributed to some particularly risk-averse individuals, that the new genetics will somehow force upon them unwanted self-awareness. Persons exhibiting this psychological aversion, sometimes called the "nocebo" effect,(11) prefer to remain in a state of medical or genetic ignorance for fear that knowledge will reveal the presence of a predisposition for a condition that is incurable or preventable only by resort to costly and difficult measures.(12)

A far more common basis for apprehension stems from a fear that information about one's genetic profile, will be disclosed to others without one's consent and will then be used to one's personal disadvantage.(13) For example, family or friends or co-workers might, as a consequence of knowing about a person's genetic profile, pity or fear or shun him. A prospective marriage partner might break off a relationship. An adoption agency might refuse an application to adopt a child, A divorce court might decline to award custody of a child to a parent considered genetically impaired. A jury or an insurance company might award less compensation to a disabled tort victim whose genetic profile indicated a shorter-than-normal life expectancy. A mortgage lender might decline an application for a loan. An employer might decline to hire a job applicant because of "defective" genes, reassign her to less satisfying work, or subject her to special supervision and monitoring.

The fear of genetic testing's dark side has generated a flood of proposals for the legal protection of genetic privacy,(14) which has, in turn, produced a growing torrent of legislative and administrative enactments at the state and federal levels of government.(15) Although the scope and content of these proposals and enacted measures vary widely, they tend to employ two principal regulatory instruments to protect against feared abuses of genetic information: restrictions on disclosure and restrictions on use. Disclosure restrictions typically forbid the communication or release of genetic information about an identifiable individual to a third person without the individual's prior informed consent. These measures often include ancillary requirements concerning the handling, segregation, updating, or the destruction of genetic information, the counseling of research subjects prior to genetic testing, methods for securing substituted consent for persons unable to give informed consent, and the like.

Use restrictions, by contrast, focus on the uses to which genetic information may be put. By far the most common form of use restriction is a prohibition on so-called "genetic discrimination."(16) The antidiscrimination norm seeks to prevent persons from using information about a subject's genetic profile as a basis for withholding certain privileges or benefits or granting such benefits only on conditions less favorable than would otherwise be imposed.

Of the many contexts in which genetic discrimination has been or might be practiced, the two that have received the most attention and have generated the most urgent calls for regulation are the markets for insurance and employment. The insurance restrictions typically forbid health insurers, and in some cases life or disability insurers, from asking applicants for certain kinds of genetic information or from using that information either to deny or curtail coverage or to assign the applicant to an elevated risk classification.(17) The employment provisions typically restrict the kinds of genetic information that employers may obtain from job applicants and prohibit employers from using such information as a basis for various kinds of actions, such as refusal to hire, refusal to promote, relegation to unfavorable work assignments, or discharge.(18)

The nondisclosure and nondiscrimination strategies are closely interrelated. One of the primary purposes of protecting a person against the disclosure of genetic information is to limit the danger that it will be used to his or her disadvantage in interpersonal relationships or market transactions. One obviously cannot base discrimination on a person's genetic profile unless one has first obtained information about that profile. Nonetheless, we see the two strategies as analytically and morally distinct. The nondisclosure norm is, we believe, both practically enforceable and morally attractive. It recognizes the fundamental moral value of human autonomy, on the basis of which almost any plausible version of liberal ethics must be founded.(19) Whether one's primary moral desideratum is individual liberty, human equality, or social welfare, one can comfortably conclude that an individual should have a prima facie right to control the dissemination of information about her body, just as she has a prima facie right to oppose unauthorized invasions of her physical integrity. Thus, the law may reasonably forbid third parties from appropriating such information without obtaining an individual's prior informed consent.

A similarly blunt-cut judgment that the nondiscrimination norm should hold sway over regulatory decisions involving the use of genetic information within the markets for employment and insurance is, by contrast, far more problematic. In our view, the attempt to prohibit genetic discrimination tout simple is misguided. In this essay, we offer two primary reasons for this view. First, as we argue in Part I, the strategy faces enormous practical difficulties of implementation and enforcement, and is, therefore, almost surely doomed to produce either failure or a massive disappointment of expectations. Second, as we go on to describe in Part II, the strategy is, however well-intentioned, morally unjustified...