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Discrimination As a Consequence of Genetic Testing Paul R Am. J. Hum. Genet. 50:476-482, 1992 Discrimination as a Consequence of Genetic Testing Paul R. Billings,* Mel A. Kohn,t Margaret de Cuevas,t Jonathan Beckwith,4 Joseph S. Alper, and Marvin R. Natowicz§ #' * * *Division of Genetic Medicine, Department of Medicine, California Pacific Medical Center, San Francisco; Departments of tMedicine, $Microbiology and Molecular Genetics, and §Pathology, Harvard Medical School, IlDepartment of Chemistry, University of Massachusetts, and #Department of Pathology, Massachusetts General Hospital, Boston; and * *Division of Medical Genetics, Shriver Center for Mental Retardation, Waltham, MA Summary Genetic discrimination refers to discrimination directed against an individual or family based solely on an apparent or perceived genetic variation from the "normal" human genotype. We describe here the results of a case history study designed to assess whether or not genetic discrimination exists. Using the above definition of genetic discrimination and applying stringent criteria for case selection, we find that genetic discrimination exists and is manifested in many social institutions, especially in the health and life insurance industries. Stigmatization, and denial of services or entitlements to individuals who have a genetic diagnosis but who are asymptomatic or who will never become significantly impaired, is noted. Follow-up comprehen- sive studies on the significance and varieties of genetic discrimination are needed. In order to avoid creating a new social underclass based on genetic discrimination (the "asymptomatic ill"), existing and future genetic testing or screening programs need review by medical, scientific, legal, and social policy experts, as well as the public, and may require modification. Introduction ments and educational institutions all have an imme- The accelerating development of biochemical and diate or potential interest in promoting large-scale DNA-based diagnostic tests for human genetic condi- genetic screening to identify individuals carrying tions in the last decade has engendered a revolution disease-associated genes (Motulsky 1983; Murray in genetic diagnosis. Numerous families faced with 1983; Uzych 1986; Hewitt and Holtzman 1988; clinical or family planning decisions have Holtzman 1988, 1989; Nelkin and Tancredi 1989; agonizing Office ofTechnology Assessment 1990; Natowicz and been aided by information obtained through these to tests (Phillips 1988). With further refinement of the Alper, in press). In addition, economic pressures human genetic map (Donis-Keller et al. 1987; McKu- apply genetic tests to broader sections of the popula- sick 1988), the limited repertoire of genetic tests for tion may increase as biotechnology companies develop the predisposition to common conditions such as can- and sell genetic testing products and services (Hewitt diseases, and mental disorders and Holtzman 1988). Finally, the pace of develop- cer, cardiovascular ment and application ofDNA and biochemical genetic may markedly expand (Lander and Botstein 1986; the be acceler- Scott 1987). tests and their acceptance by public may employers, govern- ated by the recent widespread media coverage of the Insurance companies, private work of human geneticists. As a result of the pressures to implement genetic Received March 8, 1991; final revision received November 5, technologies, problems engendered by their applica- 1991. tion may be overlooked. For example, with relatively Address for correspondence and reprints: Paul R. Billings, M.D., few exceptions, our knowledge of how genes produce Ph.D., Department ofMedicine, California Pacific Medical Center, clinical illnesses is still quite limited. Yet an evaluation P.O. Box 7999, San Francisco, CA 94120. and i 1992 by The American Society of Human Genetics. All rights reserved. of the predictive value for clinical disease, utility, 0002-9297/92/5003-0004$02.00 impact is necessary before general use of genetic tests 476 Genetic Testing and Discrimination 477 can be endorsed. In addition, some authors fear that transmission of a condition can be obvious, as in the an uncontrolled use of the tests may lead to a revival case of an individual who was denied a job because a of social policies based on eugenics (Kevles 1985). health record noted that the applicant's mother was While there have been theoretical concerns about "schizophrenic." In other instances, the distinction be- prejudices and discrimination surrounding genetic tween discrimination based on clinical disability or conditions, few investigations of these issues have illness, and that arising from genetic aspects ofa condi- been published (Hampton et al. 1974; Motulsky tion, may be more difficult to determine. For the pur- 1974; Kenen and Schmidt 1978; Murray 1991). Stud- poses of this study, genetic discrimination is defined ies on the impact of genetic counseling have generally as discrimination against an individual or against focused on subjects' understanding ofgenetic informa- members of that individual's family solely because of tion and on family planning decisions (Leonard et al. real or perceived differences from the "normal" ge- 1972; Evers-Kiebooms and van den Berghe 1979); nome ofthat individual. Genetic discrimination is dis- evaluations of the impact of genetic screening pro- tinguished from discrimination based on disabilities grams are typically concerned with issues ofdiagnostic caused by altered genes by excluding, from the former sensitivity and specificity, medical efficacy, and cost- category, those instances of discrimination against an effectiveness and have usually not assessed long-term individual who at the time of the discriminatory act nonclinical outcomes. The personal costs of con- was affected by the genetic disease. senting to genetic testing and screening have not been An advertisement to solicit cases of possible genetic studied and raise many issues of considerable signifi- discrimination was mailed to 1,119 professionals cance. working in the fields of clinical genetics, genetic coun- Given this situation - powerful and attractive new seling, disability medicine, pediatrics, and social ser- techniques, social and economic forces pressing for vices in New England. This solicitation was also pub- their application, and an incomplete understanding of lished in the American Journal of Human Genetics the potential negative social and personal conse- (Billings 1988). Similar appeals were reprinted in news- quences ofgenetic testing - concern about the burdens letters oforganizations ofindividuals with genetic con- engendered by widespread utilization of genetic tests ditions, such as associations for persons with Fried- seems justified. One such issue is the problem of ge- reich ataxia, Charcot-Marie-Tooth disease (CMT), and netic discrimination. muscular dystrophy. This paper describes the results of a preliminary Many responses included supporting documenta- study of individuals labeled with genetic conditions. tion. Each described incident was reviewed indepen- This study is not a survey; it does not purport to give dently by two of the authors (P.R.B. and M.A.K.), statistically significant information about the extent and a decision was reached as to whether it met the ofgenetic discrimination. Instead, the aim ofthe study standard for inclusion in our study. This preliminary was to discover whether incidents which may reflect investigation was closed after receiving responses for genetic discrimination are occurring in the workplace, 7 mo. in access to social services, in insurance underwriting, The most common reasons for excluding responses and in the delivery of health care. If the existence and in this study were that (1) the differential treatment range of genetic discrimination revealed by this study was based on a physical variation or disability (for are confirmed by other investigations, then current example, individuals with Turner syndrome who were policies and practices regarding the application of ge- discriminated against in employment because of short netic testing and utilization of information obtained stature), (2) there was a lack of evidence that the from such testing may need to be reconsidered. differential treatment arose from the hereditary nature of the condition, and (3) there was inadequate infor- Methods mation submitted to determine whether discrimina- tion had occurred. A definition of genetic discrimination was devel- oped for this preliminary study based in part on the work of the Genetic Screening Study Group, a Bos- Results and Discussion ton-based public interest group (Dusek 1987; Billings Of the 42 responses received, 13 (31%) were ex- 1989; Beckwith 1991; Natowicz and Alper, in press). cluded from further study because of failure to meet Discrimination stemming from supposed hereditary our strict criteria for genetic discrimination or because 478 Billings et al. insufficient information was provided to enable an ac- creasing number of individuals will discover that they curate assessment. The remaining 29 responses came harbor a disease-associated gene but have no identifi- from all regions of the United States and Canada. A able clinical illness. variety of genetic conditions were represented in the A respondent from a family with hereditary hemo- study group, including Huntington disease, Friedreich chromatosis wrote: "In 1973, at age 27 and 1/2,1 was ataxia, CMT, hemochromatosis, phenylketonuria diagnosed as having excessive iron storage and was (PKU), and others. Most ofthe responses were elicited
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