The Human Genome Project is an international attempt to map and sequence all the estimated 3 billion base-pairs making up the entire human DNA. Originally it was estimated that it would cost around $4 billion but may well cost more. In part it is a quest for scientific knowledge but that alone would not justify the expense and it is expected that it will improve the diagnosis of genetic disorders especially those with a multifactorial aetiology. Optimists also believe that in due course the data will lead to successful treatments for at least some genetic disorders being developed. If this happens there would be a revolution in medical care perhaps equal to the introduction of antibiotics and of great benefit to many patients.
However, there are those who already see potential dangers in the possible uses of the data to be obtained. They fear discrimination on genetic grounds, massive inequalities in the availability of medical treatment of genetic disorders, and even a misuse of genetic data of the kind associated with Nazi Germany or the involuntary sterilisation programmes in the United States in the early years of this century.
Discrimination in employment or insurance could arise because it was believed, rightly or wrongly, that an individual was unfit for a particular job or a bad insurance risk because he or she has a known genetic constitution.
In employment genetic discrimination would in many ways resemble that due to race or sex and would probably be dealt with in the same way, by legislation, with similar results. In insurance discrimination would probably resemble the present situation for HIV positive individuals. It will be thought wrong, will happen to some extent in practice, and be of little public concern as long as only a few people are affected.
Health care concerns about the use of data from the Project arise because it is believed that, should the optimists be proved right, treatments for genetic disorders would, initially at least, be very expensive. In countries where medical expenses are paid by the patient or his or her family only the wealthy, perhaps only the very wealthy, would benefit. Where, as in Britain, the bulk of the cost of medical care is paid out of public funds treatments for genetic disorders would require significant amounts of new money or a reduction in other services. Where medical insurance schemes cover much of the population there would be either a dramatic increase in premiums or an exclusion of genetic disorders from the cover provided. The choice then would be either the restriction of such treatments to a very few or increased expense for almost everyone.
In a democracy governments try to survive by giving a majority of the electorate what they want. Rising taxes or health insurance premiums would be unpopular but so would restricting health care to a wealthy few. There is a strong possibility that some politicians will see a way out of this dilemma by preventing, or trying to prevent, the reproduction of the genetically unfit. If this were to be done by persuading - even bribing - such individuals to refrain from passing on their genes then society as a whole would benefit. But there would always be the danger that supporting the "wrong" party would be regarded as evidence that a person was genetically inferior.
The project will undoubtedly produce information which will benefit many individuals. It could also be used to introduce new forms of discrimination and worrying about these has become a kind of cottage industry in the United States. What does not seem to be worrying people is what would happen if treatments, but not cures, for many genetic disorders became widely available. If such treatments were analogous to treating diabetes with insulin then they would simply enable the deleterious genes to spread and multiply within the population.
The data generated by the Human Genome Project could be used to discourage the passing on of genes causing known disorders or to increase the numbers of such genes in the population with each successive generation. If the latter happens then our descendants are unlikely to think the $3 billion or more to have been well spent.
John Timson
References:
1. Garver, K L and Garver, B; American Journal of Human Genetics, vol 54, p148, 1994.
2. Timson, J; Galton Institute Newsletter, No 10, p8, 1993.
3. Juengst, E T; American Journal of Human Genetics, vol 54, p121, 1994.