Through ethical reflection, humanity can now keep pace with the challenges of science instead of realizing too late when things have gone wrong
Scientific research on the human genome, and especially on gene therapy and the diagnosis of genetic diseases, has far-reaching implications for the lives of all of us--children, men and women alike. It is a field holding out immense prospects for man's self-transformation and it will, in the long run, require societies to make certain choices. As a result, it is giving rise to anxieties that may in some cases be justified but are more often irrational.
These anxieties lie behind the effort many countries are now making to look into the ethical framework of such research. Legislation is starting to be adopted to define limits for medical practice and some types of research, in order to ensure that human dignity will be respected. Two points must be stressed, however. In the first place, the type of legislation differs significantly from one country to another and we do not have any common yardstick to judge it by. Secondly, it does not exist everywhere in the world, but only in some of the industrial countries. Elsewhere, there are are still a number of grey areas surrounding research and experimentation.
It is for all these reasons that the Director-General of UNESCO decided to set up an International Bioethics Committee and invited Ms. Noelle Lenoir, a member of the Constitutional Council of the French Republic, to preside over its deliberations.
The Committee met for the first time in September 1993 and commenced its work by identifying three priority themes. These are genetic screening and testing, the therapeutic applications of genetics research, and population genetics.
Should genetic screening be made compulsory for so-called "risk" populations or should it simply be made available to them? Should it be introduced into premarital examinations or be included in prenatal diagnosis ? Should it be carried out before gamete donation or the implantation of embryos fertilized in vitro?
At the outset, a distinction must be made between two kinds of genetic tests. Tests in the first category are used to identify a particular gene which is virtually certain to bring on a hereditary disease. Those in the second category show whether or not a person has a predisposition to certain diseases and thus reveal situations involving varying degrees of probability. Depending on the environment and sundry other factors, about some of which little is known, the outward symptoms of a disease may appear in its early stages or may emerge only later, and the disease itself may vary in severity. A genetic mutation may become more dominant and grow worse from generation to generation. On the other hand, the tendency for genetic damage to occur may be reversed. In short, the same defect in a person's genotype (genetic constitution) may take different forms in his or her phenotype (the physical constitution as it interacts with the environment).
This influence of the environment on the form a genetic mutation may take brings into play the concept of the responsibility of individuals towards themselves and their families and the responsiblity of citizens towards the community. Preventive medicine could therefore be said to go hand-in-hand with predictive medicine.
Should people be told that there is a probability that they will eventually develop Huntington's chorea, for example, and transmit it to their offspring? Should their close or distant relatives be warned? What about employers and insurance companies? Can a company's medical service insist on being given the results of genetic testing?
Since genetic testing may extend over several generations and involve varying numbers of individuals, questions about the storage and confidentiality of the data are bound to arise sooner or later. How long should genetic data be kept and how can its confidentiality be guaranteed? Who should be empowered to divulge or withhold information which often involves whole families?
Similarly, if people can choose to know what their genetic future will be, can they also choose not to know? Should they or should they not be compelled to take account of the results of genetic testing?
In this regard, it is important that people should be freely able to exercise their discretion. Information that is liable to change their whole lives and force added responsibilities on them should not expose them to any form of discrimination. Genetic testing should not prompt the authorities to adopt repressive policies leading to a restriction of individual freedoms.
Another ethical issue connected with genetic testing is bound up with the need to ensure that all countries, including the least advanced ones, reap benefit from them, so that they too can join the fight against hereditary diseases.
The first question that has to be raised relates to the pre-implantation diagnosis performed on artificially fertilized embryos which, in view of its greater simplicity and lower cost, is likely to replace gene therapy in cases of rare genetic diseases. This involves a choice that is already framed in ethical terms.
The second question is whether the work currently being done is not liable to become narrowly focused on looking for the genes that account for people's behaviour--their sexuality, for example--their talents and abilities, or even their "deviances". This could lead to a kind of genetic reductionism whereby people would be defined exclusively in terms of their genome, or to a situation in which some individuals or groups of individuals might be stigmatized by society, ostracized or even eliminated. This would be tantamount to adopting eugenic policies.
There are other problems. We know, for example, that through agriculture, gene therapy could bring about radical changes in public health. A diet of genetically modified plants could become a regular form of treatment, a sort of oral "vaccine" given in repeated doses. However, the in vivo reproduction of these plant species would be liable to give rise to new recombined organisms that could become vectors for diseases. In such an eventuality, what kind of preventive measures and legislation should be instituted?
The same applies, mutatis mutandis, to the use of human genes for the development of transgenic animals. What limits should be set on the supply of human genetic material? Should it be reserved solely for therapeutic purposes, say for xeno-grafts, and its use for any other purpose, such as for improving livestock, be ruled out?
We have to accept that the issue of transgenesis applied to the human species now has to be faced. Reports of germ-line therapy experiments on embryonic cells or spermatozoa have recently been published in scientific journals.
As a result of the rapid strides being made by genetic engineering, it is now possible to store gametes and germ cells in "banks" for possible future use, such as for autografts. This practice is now regarded as acceptable, under certain conditions, for young cancer patients who have to undergo X-ray treatment or chemotherapy and who wish to preserve their chances of later conceiving children by in vitro fertilization techniques. With the exception of these medical cases, the storage of gametes and germ cells poses the problem of the storage of human products generally, as well as that of storage methods and the criteria governing access to such "banks".
Lastly, careful thought has to be given to the best ways of protecting the intellectual property of researchers whose inventions have industrial or commercial applications. Should such protection be regarded as akin to copyright? How is it possible to regulate access to genetic data banks and their possible industrial or commercial uses?
First, steps must be taken to secure the free and informed consent of population groups participating in major surveys on population genetics. The scientific aims and objectives of the surveys should be clearly explained to them.
The results of these surveys should not be detrimental to those who participate, nor should they lead to discrimination against them. Nor should they be allowed to lead to the establishment of a genetic pseudo-classification of the population groups involved.
These results should also be communicated to the individuals and population groups concerned. Access to genetic data banks where the information is stored, the processing of this information and its use should be rigorously defined.
The human genome project
Deciphering the totality of genetic information on the human race is an ambitious project which calls for international co-operation. The ensuing progress will help to prevent and treat genetic diseases which are incurable today. It will also make a significant contribution to understanding the structure and the functions of the genetic system and individual development, as well as the "natural history" of DNA.
Such fundamental knowledge of human beings dearly raises ethical, social and legal problems, and consequently it is not surprising that UNESCO attaches very great importance to it. The human genome project has a place among UNESCO'S activities because of UNESCO's ethical mission and its competence in the fields of education, science and culture. UNESCO offers an ideal environment for multidisciplinary debates on the different aspects of study of the human genome.
UNESCO is thus fully involved in this project. By organizing or encouraging meetings, holding workshops, helping to finance training programmes and awarding short-term scholarships, UNESCO is seeking to do three things: to encourage international co-operation and coordination, to stimulate debate on the many repercussions of the human genome project, and to promote the participation of countries of the South and East. The sharing of knowledge between North and South, East and West is, after all, an ethical imperative in itself.
GEORGES B. KUTUKDJIAN is the head of UNESCO'S Bioethics Unit. A philosopher and anthropologist, he has published a number of papers on kinship systems and proverbs, and literary essays on Marguerite Duras, Kafka and Proust. He was the co-editor, with Antonio Papisca, of a collective work on the rights of peoples, published in 1991 by CEDAM, Padua (Italy).…