Genomics and global health

Hype, reality, and a call for action in the developing and the developed world

The current revolution in genomics, culminating in the sequencing of the human genome, has tremendous potential to improve health globally. Of particular interest is how these advances will affect the health of people living in the developing countries. The reality that much of the advances in genomics were made, and in part are owned, by the developed world has given rise to the concern that a genomics divide will be created that will further widen the equity gap in health between rich and poor nations.1 In fact, genomics and related technologies should be used to narrow the existing unethical inequities in global health. A report soon to be released by the World Health Organization focuses on this inequity and points out, for example, that some 80% of investments in 2000 and DNA patents in genomics in the period 1980-93 are held in the United States.2 Of the 1233 new drugs marketed between 1975 and 1999, only 13 were approved specifically for tropical diseases.2

The sequencing of the genomes of numerous microbial pathogens and ongoing efforts to sequence the genomes of mosquito vectors (for example, Anopheles gambiae) promise benefits in the shorter term for the control of communicable diseases.3 Fosmidomycin, originally developed for treatment of recurrent urinary infections, showed effective antimalarial activity when information on the genome sequence of Plasmodium falciparum revealed a biochemical target present in the parasite and not in the human host4; the drug has gone into clinical trials in less than two years. Clinical trials have also started in Africa of a pre-erythrocytic DNA based vaccine that protects against natural P falciparum infection.5 Although benefits for alleviation of infectious diseases are obvious, it is now believed that the information generated by genomics will, in the long term, also have a major role in the prevention, diagnosis, and management of many diseases that hitherto have been difficult or impossible to control—cardiovascular disease, cancer, diabetes, the major psychoses, dementia, rheumatic disease, asthma, and many others.6

Aside from the complex scientific and technical problems of bringing genomics to the clinic, ensuring that its benefits will be reaped by developing countries will require paying attention to many equally challenging issues. Genomics brings with it complex and new ethical, legal, social, and economic implications as well as concerns about risks and hazards.7 Issues of confidentiality, stigmatisation, and misuse of genetic information are high on the list of concerns, with the potential for creating a genetic underclass, denied medical insurance as a result of genetic testing and screening. Intellectual property rights associated with DNA sequences and the potential exploitation of populations in developing countries by creating genetic databases, often at the behest of companies based in the developed world, are other areas of major concern. 8 9

Despite the tremendous potential and promise of genomics, it is very difficult to predict when its benefits for health will be realised. Hence it is vitally important for developing countries to maintain focus on the basics of what can be done now, particularly in the fields of public health and the development of more functional healthcare systems. The main message of the WHO report is that medical practice will not change overnight as a result of new technologies spawned by genomics.2 But the long term possibilities are such that developing as well as developed countries must prepare themselves for this new technology and carefully explore its possibilities, always looking at its cost effectiveness in comparison to more standard approaches to medical care. In addition it is crucial to increase the quality of education in genetics and genomics at all levels of society. If this is not achieved it will be impossible to develop an informed debate about the various issues involved. The danger is that those who provide health services will be unable to distinguish between hyperbole and reality in a new, uncertain, and rapidly expanding field of research.

What actions are needed in the future? Strong international leadership by the scientific community, international organisations, governments, and industry is required through promotion of innovative partnerships and cooperation. A key issue in the post-genomics era will be who will pay to test, develop, and deliver important vaccines, drugs, and diagnostics for diseases of the developing world, and who will ensure equitable access to those who need it most. A millennium challenge account to improve health in the developing world, discussed at the recent summit on financing for development in Monterrey, could be partly used for this purpose.10 Given the ethical concerns associated with many of the issues, and the notable commercial interest, a proposal has been made for a commission on global genomics governance to make recommendations for genome related issues and activities.11 At a higher political level, the potential of genomics to generate economic and health benefits for developing countries should be highlighted to the world's leaders; attention to these problems at the coming G8 meeting of the world's wealthiest nations (Canada, France, Germany, Italy, Japan, the United Kingdom, the United States, and Russia) in Kananaskis, Canada, in June, which is focused on Africa, would be a visionary move on the part of these countries.

This call for action acknowledges that, although most of the incentives to develop new drugs and vaccines are appealing to the markets in the industrialised world, enormous opportunities exist to apply knowledge of the genome to diseases of the poorest people as well, and that we all have a responsibility to help make these opportunities into realities. The medical profession in the developed countries has a vital part to play in bringing this about. Many of the important infectious killer diseases are being encountered with increasing frequency in richer countries, and, as the provision of basic health care improves, many poorer countries are making the epidemiological transition towards a pattern of disease similar to that of the developed countries. Globally, heart disease is now the commonest cause of death. The globalisation of disease is a message that must be understood clearly by medical schools, research funding bodies, industry, and governments of rich countries. The development of research partnerships between the developed and developing countries will not only help to combat the global inequity of health care but will also be of enormous mutual benefit to both parties.