Genetic testing and discrimination: the development of genetic testing confronts humanity with urgent challenges

UNESCO Courier, May, 1998 by Michael Kirby

Sometimes making distinctions may be justified. A person with a highly contagious disease may need to be isolated for the protection of society and the proper treatment of the individual. But the history of the century now drawing to its close has been one of irrational and unwarranted discrimination. It is still going on. The grounds have included the victim's race, skin colour, gender, disability and sexual orientation. All of these are wholly or partly genetic in origin.

For some people, the fact that an individual did not choose to be different does not matter. Even if the difference is completely irrelevant, it can sometimes affect most seriously the individual and the society concerned.

The Universal Declaration of Human Rights, proclaimed fifty years ago, has offered the world a beacon of hope to guide us away from irrational and irrelevant acts of adverse discrimination. But whilst much progress has been made, the abiding challenge of discrimination, grounded in the fear of the unknown and the unfamiliar, remains. Now, at the end of the century, new potentialities for discrimination are presented. They arise from the rapid development of genetic testing which promises to identify more indelible elements of human differentiation upon which adverse discrimination could be based.

Genetic testing

Testing human beings for genetic conditions is not entirely new. Pregnant women in many countries have for years been able to undergo amniocentesis to detect the presence in the foetus of genetic abnormalities such as Down's Syndrome. For years, physicians have been able to test patients for Tay Sachs disease (an inherited and ordinarily fatal nerve disorder), sickle cell anaemia and other inherited conditions. But the progress made over the past decade in the Human Genome Project will ultimately ensure that genetic causes of human differences are identified. Many that are responsible for inherited cancers and other serious diseases have already been isolated. Amongst those discovered are the genes causing several late onset disorders such as cystic fibrosis, muscular dystrophy, Huntington's disease and, most widespread of all, Alzheimer's disease.

Mistakes can occur in the performance of tests to identify the presence of genetic disorders. As with the well-known tests for HIV (human immunodeficiency virus), there can be false positives and false negatives. But apart from this problem, current tests cannot predict, with accuracy, precisely when a genetic condition will manifest itself. The genetic test for Huntington's disease (an inherited condition which manifests abnormal movements and mental deterioration, generally occurring in middle age) has a 99 per cent accuracy rate. But there is enormous variation in the age of onset and in the range of symptoms that will appear in a given individual. In the past, family members would often know generally about inherited conditions which might manifest themselves in succeeding generations.

Now there is the potential to remove the uncertainty and to diagnose with near perfect accuracy the presence of the gene which, in due course, will manifest itself and, in some conditions, lead on to profound disabilities or certain death. Here, clearly, are new foundations for differentiation between individuals by reference to a wider category of distinctions that mark them off from most people in society. Is this a problem? In these enlightened and scientific times, need we really be worried about threats of discrimination on genetic grounds?

Foundations of discrimination

Unfortunately, despite progress in education and in domestic and international human rights law, the past teaches us that we should be concerned. Millions of people this century have lost their lives, or have suffered profoundly, because of obvious genetic distinctions. When new distinctions, previously hidden, are added to the list, we should be alert to provide effective social responses.

As a result of learning the outcome of a genetic test, an individual's life may be profoundly changed. A patient learning of the presence of a fatal and untreatable disorder may undergo profound psychological disturbance. Some may choose not to submit to the test because of the effect which knowledge of a negative result could have for the subject's well-being and that of the immediate family.

The greatest dangers from adverse discrimination lie principally in the context of social arrangements which may be affected by knowledge, or access to knowledge, about an individual's genetic makeup. Take insurance. In the past, the availability of insurance, and the rates of premiums, were ordinarily fixed by reference to a sharing of the risks of the onset of a multitude of genetic disorders amongst all members of the insuring public. Now that it is possible to subject a proponent for insurance to genetic tests, the sharing of risks may disappear or be substantially reduced. If the presence of inherited disorders can be ascertained with near perfect accuracy, the cards may be stacked in favour of the insurance company. There may be no risk of the onset of defined disorders. Or it may be absolutely certain.