- Xu Zongliang, M.D.Center for Applied Ethics, Fudan University, Shanghai 200032, China
Eubios Journal of Asian and International Bioethics 13 (2003), 8-10.
2. The purpose and significance of human genome diversity researchAs we all know, there are two basic characters of life activity: heredity and variation. By heredity I mean the character of individuals is inheritable and similarities are seen. Variation engenders differences among the individuals and communities in the same ethnic group, and between them, due to the different living circumstances, living patterns and genes. The diversity of genes is the original cause of the diversity of living creatures. Human beings not only have racial differences, but also are unique individuals. If we take into account the genetic anthropology, we can find that these differences have a close connection with the migration of people, the transformation of the environment and the establishment of social cultures. But from the perspective of life science, we could be sure these differences are determined by the diversity of human genes. However, when studying the diversity of human genes, people should pay attention to the factors of environment, language and culture etc, because the interaction between human genes and environment exists all the time. Research on human genome diversity is necessary because research on the human gene sequence is only a modern version of human genes. It cannot reflex and embrace the diversity of the whole human gene and it's impossible for the research to make a full and historical understanding of the nature of human genome diversity. According to scientists' imagination, global human genome diversity resources pool which includes the biological samples, the statistics data and the associated information etc. will be useful. The most important purpose of the project is to identify human genome diversity through global and regional human gene research. The further purpose and significance of diversity studies can be summarized as the following aspects. Firstly, exploring the origin of human beings. Did the human beings originate from one common colony or several colonies in different religions? Though the scientists of anthropology and archaeology comparatively agree to the former saying, and believe the human beings originated from Africa, they haven't made absolutely convincing verdicts at present. Human genome diversity research can analyze the DNA of our ancestors by means of new technologies. It can also cooperate closely with the sciences of history, anthropology, archaeology and linguistics etc. Through these methods, we may find relatively proper answers and make a conclusion and explication of the origin of human beings. Secondly, understanding and explaining the history of human evolution. Closely related to the first point, human beings need to understand not only the origin of themselves, but also the history of human evolution and development, which is not merely an obvious development of economy, politics, society and civilization, but an evolution of living things. We should grasp the variation and discrepancy of human genome on molecular level, together with the relationship and the threads of development of all human races in the world at present, so that we could understand human status and the essence of history more deeply. Thirdly, deepening cognition of the relations between person and person, person and society, person and nature on the microcosmic level. As we search for human origins, to find the geographical trace of human ancestor's existence, propagation and extension, it will help understanding of how persons contacted with each other and what different characters they had, as well as how languages were formed and influencing the human genome discrepancy in the past. Furthermore, it also helps us to realize the similarity, correlation and discrepancy between human race and other organisms at the genomic level, which enhance the equality concept and the affinity of the relationship between human beings and other organisms, and enables human beings to coexist and develop in harmony with the nature. Fourthly, providing more basic information about the hereditary factors which can cause, prevent and cure diseases, and about the relationship between these factors and environment. If the above three points illustrate that we engage in the study of Human Genome Diversity at the viewpoint of human beings, which is entirety, then this point stands at the viewpoint of human health and disease, which is concrete. The former is macroscopical and historic, while the latter is a target we settle to meet with the eager and practical demand at present. Human beings need to deal with various kinds of hereditary, chronic disease and other rooted diseases, such as cancer, cardiovascular disease and AIDS, which are threatening human lives. The study of genetic variation will provide us with more reliable information and a more efficient method to diagnose and treat diseases. Perhaps, the significance of the study of Human Genome Diversity is not only the above four points. Through the study, we may reveal that an individual acts as an individual because of genome diversity, which has formed an interactive and balanced system. It may show us in a biological sense that the right of autonomy should naturally be enjoyed by everyone. Genome diversity is biological evidence for not distinguishing different races, as 83% of the total human diversity is found within every ethnic group. Moreover, with the study of human genome diversity, we are able to find out not only the genes related with disease, but also the latent beneficial factors of human development.
3. The value direction of human genome diversity researchThe research about human origins, human evolution history and the relation between human beings and nature in the study of human genome diversity is, to a certain extent, not merely biological and genetic research. It has not only given rise to the new relative branches of science, which combine subjects of natural sciences with those of humanities and social sciences, such as "geno-history", "geno-philology", "geno-surname", but also combined macroscopic methods with microcosmic ones, historical methods with praxis ones to find out the answers to the "sphinx" miseries that existed among human beings for a long time. Though the research is basically in the natural sciences field, it comprises ultimate care to human beings. Such care will produce corresponding value ideas and value directions, which can influence scientists and researchers and enable them to make choice of value idea. The recent dispute of Geno-essentialism and Geno-determinism is obvious evidence. Of course, as we mentioned before, one of the emphases of human genome diversity research is the protection of human health and the prevention of diseases. So in essence, it cannot break away from the category of life science and bio-genetics. It is an obvious sign that as the human genome research project advances, human genome diversity research and the environmental genome and pharmaceutical genome research are developing simultaneously, and mutually constitute an entirety that cannot be divided. In the diagnosis and prevention of diseases, human genome diversity research is chiefly to look for pathogenic (including congenital inherent susceptibility) and anti-disease genes. Through the identification of the pathogenic and anti-disease genetic factors of different colonies, scientists hope to understand further inherited diseases, the etiopathology of cancer, senescence and inherent biological mechanism resisting some diseases, so we can find the ideas and ways of the prevention and therapy to diseases. The Environmental Genome Project (EGP) emphasizes the relation of environmental exposure and diseases, and it can't break away from the help of genome diversity, because many human diseases are due to the susceptible genes exposed in the environment. In other words, some genes take an important role in the environmental exposure susceptibility and they are easy to bring about diseases. So it is necessary to study the colonies or sub-colonies which take on inherited susceptibility and individuals in the colony. Because of the complex versatile interaction, when studying genome diversity of individuals, it is also necessary to research the factors which individuals exposed completely in environment, such as the exposed duration, nutrition, age, upgrowth, sex etc. The Environmental Genome Project (EGP) wants to strengthen the prevention, measure and improvement of public health. Pharmacogenomics aims at how to use drugs safely, effectively, economically. It is the starting of the research that, in the process of drug experiment and usage, many animal experiments and part of colony prime experiments show some drug to have indistinct therapy effect or toxicity, while in other colonies the result is quite to the contrary. Sometimes the drug that prime use proves safe shows great toxicity in a certain colony. All these prove that there is discrepancy in the individual genome, and drugs will have different effects among the individuals. Accordingly, genome diversity research helps to find the genetic diversity in the therapy effect of clinical drugs, so that scientists can improve drug design, find new compounds purposely and practice individual and therapy. The combination of human genome diversity research, environmental genome research and medicine genome research shows great prospects of the development of medicine, pharmacology and medical treatment, and it also reflects the complication of the research about human body and disease. This complication first is embodied by the complexity of genes' structures and function, together with the many visual angles and complexity of technique lines. For example, in the study of human genome diversity, you should use at least three elementary methods. The first one is genetic examination and analysis, namely microcosmic study. In this study, you should make full understanding about both the positive and the negative effects genes have towards human bodies, including the pathogenic function and the other functions. The second one is to compare human gene evolutionary situation with the theory of evolution. This study must be placed in the background of environmental and genetic interaction. The third one is to apply with chaos theory. Namely in the macroscopic range, the human genome diversity research depends on the large samples from the specific colonies in the world, which must use statistics to get more accurate conclusions. These three methods need to be applied coordinately. At the same time it also permeate historical, dialectical thoughts and value requirements. How much you are aware of these methods and value requirements may decide the success or failure of the study. The fundamental reason of the complication of human genome diversity research is that the research object is human beings and it concerns of human health, which have strong ethical tendency. So we must pay highly attention to estimate and obey the ethical principle and standard when we use techniques.
4. Ethical Problems about Human Genome Diversity ResearchGenerally speaking, human genome diversity research is the same as other human experiments. It must obey the following basic ethical principles:
References1. Helin: Decoding Life, Beijing, the Science Publication, 2000. 2. Robert Pollack(U.S): Signs of Life: the language and meaning of DNA, Beijing, China Youth Publication, 2000. 3. Documents of International Course On Research Ethics (2001.7-8, Bangkok, Thailand).