The Impact of Genomics on Global Health

Abstract

Ensuring that advances in genomics are applied to the health improvement of people living in developing countries is an important contemporary challenge. In the near term, such advances are likely to alleviate infectious diseases, with longer-term benefits envisaged for chronic disorders.

To ensure that benefits are shared by developing countries, attention must be paid to complex ethical, legal, social, and economic issues, as well as to public education and engagement. Creative and equitable international mechanisms and goodwill are needed to turn high hopes into reality and allow the use of genomics to reduce health inequities between rich and poor nations. (Am J Public Health. 2002;92:1077–1079)

THE ONGOING GENOMICS revolution, highlighted by the sequencing of the human genome, promises to change how diseases are diagnosed, prevented, and treated. It has tremendous potential to improve health globally. Despite the flush of excitement about its potential, drugs and interventions derived from genomics are likely to be expensive, and of particular interest is how these advances will affect the health of people living in the developing countries. The reality is that many of the advances in genomics were made, and in part are owned, by the developed world, and this has given rise to the concern that a “genomics divide”1 will be created that will further widen the equity gap in health between rich and poor nations.

Instead, genomics and related technologies should be used to narrow the existing unethical inequities in global health. A report recently released by the World Health Organization focuses on this inequity. It points out, for example, that approximately 80% of investments in genomics in 2000 were made in the United States, and 80% of the DNA patents in genomics in the period 1980 through 1993 were held by US companies.2 Of the 1233 new drugs marketed between 1975 and 1999, only 13 were approved specifically for tropical diseases.2

POTENTIAL FOR HEALTH IMPROVEMENT

In recent years the genomes of nearly 50 microbial pathogens have been sequenced, and ongoing efforts to sequence the genomes of mosquito vectors (e.g., Anopheles gambiae, the malaria vector, and Aedes aegypti, the main vector for dengue fever) promise benefits in the shorter term for the control of communicable diseases.3 Fosmidomycin, originally developed for treatment of recurrent urinary infections, showed effective anti-malarial activity when genome sequence information from Plasmodium falciparum revealed a common biochemical target, present in the parasite and not in the human host4; the drug has gone into clinical trials in less than 2 years. Clinical trials have also begun in Africa of a preerythrocytic DNA-based vaccine that gave significant protection against natural P falciparum infection.5

Although the benefits of alleviation of infectious diseases are obvious, it is now believed that the information generated by genomics will, in the long term, also play a major role in the prevention, diagnosis, and management of many diseases which hitherto have been difficult or impossible to control, including cardiovascular disease, cancer, diabetes, the major psychoses, dementia, rheumatic disease, and asthma.6 From a public health perspective, the genomics revolution may present new opportunities for the prevention of these diseases, but before these opportunities can be realized we will need to know more about what combination of genetic and environmental factors predispose people to such diseases.7

New approaches to population-based epidemiological studies, such as “genomic epidemiology” to chart the molecular, metabolic, and disease profiles of thousands of subjects, may be the path to the future. A new consortium has been formed to pursue this approach, which aims to scale the relevant technologies to sample sizes appropriate for epidemiological studies.8 The initial focus will be on diabetes and cardiovascular disease, but the goal is to develop generic tools and protocols that can ultimately be applied to other diseases.

The recent announcement of the genome sequences of 2 varieties of rice, indica and japonica,9,10 marks another milestone in the genomics revolution with tremendous potential implications for health. Three billion people, mainly in the developing world, depend on rice as their staple diet. The sequencing of the rice genome may pave the way for better strains of rice with enhanced yields, nutritional value, and disease resistance.

IMPLICATIONS AND CONCERNS

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 attention to many equally challenging issues. Genomics brings with it complex new ethical, legal, social, and economic implications, as well as concerns about risks and hazards.11 Issues of confidentiality, stigmatization, and misuse of genetic information are high on the list of concerns, particularly the potential for creating a genetic underclass that may be denied medical insurance as a result of genetic testing and screening. Genomics has also been associated with the prospect of “designer babies,” and there is a concomitant concern about creating a genetically engineered overclass and a disease-prone underclass; the higher likelihood of the former being associated with richer people in the developed world is obvious.

Issues of intellectual property rights associated with DNA sequences12 and the potential exploitation of developing-country populations by creating genetic databases, often at the behest of companies based in the developed world,13 are other areas of concern. While industry believes that without strong and effective global intellectual property rules, the gap between developed and developing countries will only grow in the future, there are plenty of concerns about the patentability of DNA sequences and the applications derived from them, and what implications this will have for the developing countries.

Most important, the relatively rich product pipeline of genomics-based drugs will mean a tremendous increase in the demand for clinical trial sites, many of which will be in the developing countries; this area represents an ethical minefield relating to issues such as informed consent, standard of care, and continuing availability of the drug being tested, the price of which is often beyond the reach of poor people.14 Finally, in the aftermath of the tragedy that took place in the United States on September 11, 2001, the utilization of advances in genomics for acts of bioterrorism and biological warfare similarly occupy the minds of many.

INTEGRATION WITH RESEARCH AND PRACTICE

Despite the tremendous potential and promise of genomics, it is very difficult to predict when its benefits for health will be realized; there are so many critical things we do not yet know about how gene products interact. Many people were surprised to learn that we have only twice as many genes as a fly or a worm.15 Hence it is vitally important for the 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 health care systems.

The main message of the World Health Organization report2 is that medical practice will not change overnight as a result of new technologies spawned by genomics, but the long-term possibilities are such that both developing and developed countries must prepare themselves for this new technology and carefully explore its possibilities, always looking at its cost-effectiveness compared with more standard approaches to medical care. It is also vital that genomics research not be pursued to the detriment of the well-established methods of clinical practice and clinical and epidemiological research. Indeed, for its full exploitation it will need to be integrated into clinical research involving patients and into epidemiological studies in the community. It is crucially important to maintain a balance in medical practice and research between genomics and these more conventional and well-tried approaches.

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, and there is a danger that those who administer health services will be unable to distinguish between hyperbole and reality in a new, uncertain, and rapidly expanding research field.

STRATEGIES FOR EQUITABLE Sharing

What strategies and actions are needed in the future to ensure that the benefits of the genomics revolution are shared by the developing countries? Strong international leadership by the scientific community, international organizations, governments, and industry is required through promotion of innovative partnerships and cooperation strategies. A key issue in the postgenomics era will be who will pay to test, develop, and deliver important vaccines, drugs, and diagnostic procedures for diseases of the developing world, and who will ensure equitable access to those who need it most.

The “Millennium Challenge Account” to improve health in the developing world, discussed at the recent Monterrey summit on financing for development,16 could be partly used for this purpose. Given the ethical concerns associated with many of the key issues and the significant commercial interest, a proposal has also been made for a Commission on Global Genomics Governance to make recommendations for genome-related issues and activities.17 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 June 2002 meeting of the G8 (the world's wealthiest nations—Canada, France, Germany, Italy, Japan, the United Kingdom, and the United States—and Russia), which is to focus on Africa, would be a visionary move on the part of these countries.

Such a call for action acknowledges that while most of the incentives to develop new drugs and vaccines are primarily of interest to markets in the industrialized world, there are enormous opportunities 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.

In particular, the medical profession in the developed countries has a vital role to play. Many of the important infectious killers 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 toward a pattern of disease similar to those of the developed countries. Globally, heart disease is now the most common cause of death. The globalization of disease is a message that must be clearly understood by medical schools, research funding bodies, industry, and governments of rich countries.

The development of effective and equitable research partnerships between 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. As Donald Kennedy, editor-in-chief of Science, aptly and succinctly put it, “What can First World science do, not for the West, but for the Rest.”18