Sir

A news magazine recently reported on a study published in the New England Journal of Medicine1 showing that a particular combination of common genetic polymorphisms at two different loci increases the risk of congestive heart failure. The writer noted that genetic testing should be helpful in identifying individuals who might benefit from preventive measures, but also lamented that “until we have better safeguards against genetic discrimination by employers and insurers, routine screening is unlikely.”2 Blanket assertions of this sort continue to appear in the general media as well as in the peer-reviewed scientific literature3, despite abundant evidence that such discrimination is exceedingly rare, if it occurs at all4.

Hall and Rich5 and others have amply documented the fact that, for primarily economic reasons, health insurers are not inclined to discriminate on the sole basis of a theoretical risk of future disease. In contrast, an individual who already has a serious illness presents the insurer with an altogether different magnitude of risk, because costly claims are almost inevitable. If an applicant for individually underwritten health insurance is worried about discrimination, it makes more sense to fear a mammogram, for example, than being tested for a BRCA mutation, because tests that detect actual disease are vastly more likely to trigger an adverse underwriting decision. Genetic discrimination in life insurance is also, for sound economic reasons, unlikely to become a significant social problem4.

Employers, too, have a financial interest in the current health of present and potential employees. But, here again, examples of genetic discrimination are few. A notable exception seems to be a well-publicized case involving the Burlington Northern Santa Fe Railroad3 in which up to 20 workers who claimed that their jobs gave them carpal tunnel syndrome were unknowingly tested for an obscure genetic marker that the railroad hoped might establish that the problem actually represented a pre-existing (rather than occupational) condition. Although this testing may have been stunningly ill advised, it is remarkable that, when the case is cited as an egregious example of genetic discrimination, it is not mentioned that these workers already had the condition for which the testing was performed.

Genetic discrimination is, according to one definition, “discrimination against an individual or against members of that individual's family solely because of real or perceived differences from the 'normal' genome of that individual.”6 The concept of genetic discrimination becomes meaningless once the definition is broadened to include actions against individuals who already manifest a disease, and yet the fear of such discrimination continues to be validated and perpetuated by the scientific establishment and the media.

Objective examination of the genetic-discrimination issue instead highlights intractable problems in other areas of public policy, notably the need for a universal system of healthcare funding in the United States. Although gene-based medicine will ultimately succeed or fail on its merits, public acceptance of the technology in the near future will hinge on the ability of the medical and research communities to demystify the technology and put the risks and benefits into perspective.