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Genomics and World Health
Average reader rating: 9
by WHO, Advisory Committee on health research
06 the future of Medicine
The announcement in June 2000 of the partial completion of the Human Genome Project, and the publication of this remarkable achievement in February 2001, was accompanied by the widely stated prediction that it would lead to a revolution in medical research and patient care. Hence, in January 2001 the Director-General of WHO requested that the Advisory Committee on Health Research (ACHR) prepare a Report on the likely impact of genomics on global health, with a particular focus on the implications for developing countries.
The objective of WHO is the attainment of the highest possible level of health by all the peoples of the world. Therefore, the role of genomics for medical practice has had to be considered in the context of strategies to improve the health of populations which are still suffering from the effects of poverty, a lack of basic health systems and a high prevalence of infectious disease, those which are facing the increasing health burden of an ageing population and the intractable diseases of middle and old age, and others which are passing through the demographic and epidemiological transitions between these extremes. Furthermore, it was important for the Report to examine the potential risk that genome technology might exacerbate global health inequalities, and to consider the complex ethical issues which might arise from this new field in the context of the different religious and cultural values of the individual Member States of WHO.
Although the impetus for the Report came from the announcement of the partial completion of the Human Genome Project, the ideas that underlie the potential of this new field for improvements in health care first started to be aired in the middle of the 20th century. Since this time, there has been an increasing emphasis in medical research directed at the analysis of disease mechanisms at the level of cells and molecules. This evolution towards what is sometimes called "molecular medicine" has resulted from an appreciation of the importance of genetics in under-standing pathology, together with the development of recombinant DNA technology which has made it possible to isolate and characterize genes from a wide range of organisms, including humans.
At first sight it is not obvious why genetics has come to play such a central role in our thinking about disease. After all, although many diseases can be traced through families because they result from a single defective gene, with a few exceptions they are rare and do not amount to a major health burden. On the other hand, most common diseases are the result of infectious agents or other environmental factors, modified to some degree by variations in pathogen virulence or host susceptibility; and for many of these diseases the cause is unknown. However, two major changes in our thinking about the pathogenesis of disease have highlighted the importance of genetics for an understanding of disease mechanisms. First, any disease process, whether it is the virulent properties of a microorganism that enable it to invade tissues or the pre-cancerous changes in the respiratory tract which follow years of exposure to tobacco smoke, can be explained ultimately in biochemical terms which, in turn, reflect gene function. Second, it has become clear that there is a remarkable degree of individual variation in susceptibility to noxious environmental agents and that this is genetically determined; defining and understanding the actions of the genes involved should, therefore, lead to a better understanding of the underlying pathology of disease.
In short, because genes encode the information required for every biological function, a better understanding of how this is achieved is equally germane to the study of disease as it is to an understanding of normal function. It was such thinking that when the tools of molecular genetics started to become available in the 1970's spawned the new fields of molecular pathology and molecular medicine.
It should be emphasized that this new focus on genetics in medical research and practice does not, as is sometimes suggested, reflect the genetic deterministic view which has it that we are completely at the mercy of our genes and have no control over our destinies. We are what we are as the result of a complex interplay between our genetic make-up, our environment and the cultural milieu in which we are raised. Our genes, because they carry the instructions for the complex biochemical processes that underpin all the essential biochemical activities of living organisms, are but one, albeit central, part of this complex interplay.
Over the last 20 years important progress has been made towards an understanding of the molecular basis of many single-gene disorders, that is conditions that follow a simple Mendelian mode of inheritance. Much has also been learnt about the genetic mechanisms of congenital malformation and mental retardation. A start has been made towards a better understanding the genetic component of the major killers or causes of ill health of middle life: heart disease, stroke, diabetes, the major psychoses, and cancer, for example. New technologies have offered insights into individual variability in response to infection, and the protean ways in which infective agents can bypass both the immune system and therapeutic agents. These advances have spawned a major new biotechnology industry. Although progress in translating them into day to day clinical practice has been slow, enough is known already to suggest that molecular genetics will play an increasingly important role in patient care in the future.
Advances in this field are also helping to answer some of the broader questions of human biology. They are playing a central part in elucidating the mechanisms of evolution and are also making some progress towards enhancing our understanding of more complex issues, such as how a fertilized egg develops into a mature adult and the nature of the mechanisms involved in the process of ageing. They are also starting to yield some understanding of the extremely complex interactions between nature and nurture which underlie human behaviour.
The announcement of the success of the Human Genome Project has given an enormous impetus to this new field of biological and medical research. Genetic information is encoded by the structure of deoxyribonucleic acid (DNA). The sum total of this information for any organ-ism is called its genome. The study of the genome is termed genomics. Recently, almost the complete sequence of the three billion (3x10 9 ) chemical building blocks, or bases, of the DNA which constitutes the human genome has been determined. This remarkable achievement will probably be completed within the next two or three years. Genes are lengths of DNA which carry the information to make functional products - most often proteins, or parts of them; some proteins are encoded by more than one gene. It is currently estimated that the human genome contains between 28 000 and 40 000 genes. Although it is already clear that it will take a long time to determine the function of all of them, and how they interact one with another and with the environment, it is believed that the information that will be generated from this complex task will have a profound effect on the provision of health care in the future. But it is equally clear that it will raise new sets of ethical issues which have not been encountered before in clinical practice and which strike at the very heart of the basis of human nature and how far we wish to go in exploiting and modifying our genetic make-up.
Side by side with the Human Genome Project there have been other genome sequencing projects which, at least in the short term, may have even more important implications for global health. Major progress has been made towards sequencing the genomes of a broad range of human pathogens, work which has direct application for the prevention, diagnosis, and management of communicable disease. Similarly, the determination of the genome sequences of a variety of other organisms is well advanced, information which will be invaluable in helping to determine the functions of both the human and pathogen genomes.
It must be emphasized that molecular genetics and the fruits of the genome projects will not replace the well-established patterns of medical practice and research. Good clinical care will still be based on history taking, detailed physical examination, and well-tried laboratory and other ancillary investigations, backed up by evidence-based therapy and good pastoral care. Similarly, medical research will continue to rely heavily on clinical epidemiology, clinical studies of patients and whole-animal physiology. The sophisticated tools of molecular genetics, while they are undoubtedly an extremely valuable new acquisition to this well-tried armamentarium, will have to be integrated into our current approaches to clinical investigation. Indeed, without a unified approach of this kind, in the development of genetic epidemiology for example, it is unlikely that the potential of such tools for the improvement of health care will be realized.
Assessing the likely medical applications of the genome projects and their aftermath is not easy, particularly in relation to the health of those in developing countries. In the excitement generated by the Human Genome Project many medical scientists and the media have claimed that genome technology will provide quick answers to most of our intractable medical problems. This has already caused some disillusionment when these promised advances have not materialized. It is not clear how long it will take for the next stage of the project to evolve, that is to try to determine the function of all our genes and how they interact with one another. It is even less certain how long it will take for the applications of this work to reach the clinic. At the same time the demography of disease is changing rapidly, necessitating a shifting set of priorities for the provision of health care. However, enough is known already about the potential of this new field to provide at least a tentative framework for future action on the part of WHO and its Member States, to whom this Report is addressed.
Due to the fact that genomics research is moving so quickly, and in the light of claims that it will revolutionize health care in the near future, it was important to produce this state-of-the-art Report as quickly as possible. However, in the time available, it was possible to obtain the inputs of many of the Member States and key stakeholder groups at three international consultative meetings held in Geneva, Switzerland, Brasilia, Brazil and Bangkok, Thailand, together with valuable contributions and feedback from WHO staff members. In recognition of the enormous breadth and diversity of this field, and hence the Report's inability to deal with any one aspect in detail, it contains a short bibliography for further reading together with key reference sources for each section.
Full report at:
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