The recent sequencing of the human and other genomes has created the potential to explore and exploit genetic information in ways previously unimaginable—an advancement that will have an impact on virtually every aspect of medicine. Yet few regions in the developing world, which carries the largest burden of disease, have the training or the necessary scientific infrastructure to apply advances in genetics to their specific public health needs. While health research investments to address global diseases such as HIV/AIDS, malaria, and tuberculosis have increased in recent years, many health problems in the developing world remain “neglected.” In particular, growing inequalities between the “North” and the “South” in health research capacity, without concerted efforts to address this inequality, do not bode well for the future. Nowhere is the gap in research capacity more evident or growing faster than in the genetic sciences.

The countries in the South cannot depend on the more scientifically advanced countries of the North, or on multinational pharmaceutical companies, to produce the drugs, vaccines, and diagnostics needed to address all their public health problems. Of the US$73 billion spent globally every year on health research, only about 10 percent is actually allocated for research particular to 90 percent of the world’s health problems. Rather, the countries of the South must now assess how they can most effectively build the expertise they will need to have in place ten years from now in order to take advantage of advances in the genetic sciences and the enabling technologies of genomics and bioinformatics.

Though many areas will be impacted by these new advances, including genetic clinical services, economics, education, and policy, we focus this discussion on enabling genetics research. While the solutions adopted by each country may vary widely depending on human and financial resources, scientific infrastructure, and competing health priorities, each state can begin to build genetic research capability at some level. We discuss three approaches that have been implemented to initiate that process.

Advantages of Genetic Study in Developing Countries

Genetics is the study of the individual genes that encode all the heritable information for the development and traits of any organism. Malfunctioning or variant genes can lead to disease. In many instances, populations of developing countries have specific advantages in carrying out genetics research, particularly for common disorders—including cardiovascular disease, cancer, and mental illness—that are leading causes of morbidity and even mortality worldwide. It is likely that small variations in several unidentified genes make significant contributions to the onset and expression of these common disorders, which are further influenced by environmental and behavioral risk factors.

Large cohorts of related individuals who manifest these diseases at high frequencies are required to tease out these effects. In many developing countries, families are large, and multiple generations and relations stay close together and share a common environment. Some developing countries even have “population isolates,” genetically homogeneous populations that may have originated from a small number of individuals, or founders, which are especially informative for these studies.

In other populations, such as those in the Middle East, marriages between close relatives is relatively common, leading to a high rate of genetically-influenced diseases that may be rare in other regions. Armed with the new tools of genomic analysis, geneticists hope to gain footholds against many of these diseases by careful analysis of these special populations.

It should be of significant interest to health authorities in these countries to know the causes of these diseases: in the short term, to be able to offer genetic counseling and pre-natal diagnosis to families, and in the longer term to find ways to ameliorate, cure, or eliminate these diseases. Moreover, these genetic “resources” have the potential to make major contributions to the study of diseases that are of worldwide significance, underlining the importance of carrying out research in these regions of the world.

A Global Effort

The complete sequencing of the human genome in 2001 by the International Human Genome Consortium, a publicly funded group, and by a private company, Celera Genomics, opened a new era in medicine and public health. This led to the sequencing of many genomes important to biomedical research—including the genomes of human pathogens, human parasites and their vectors, plants, animals, and model organisms—of which many are critical to developing countries.

The complete sequences, for example, of the parasite most commonly responsible for human malaria and its mosquito vector were published simultaneously in 2002 by international consortia. According to the World Health Organization (WHO), malaria claims more than a million lives every year, most of them in sub-Saharan Africa. And yet, despite the enormous importance of these achievements for populations worldwide, scientists from malaria-endemic countries were generally not included in these efforts—a lost opportunity to build scientific capacity among those most affected by the disease. By contrast, genome projects of other parasites particularly relevant to the South, such as the parasites for African sleeping sickness, chagas disease, schistosomiasis, and leishmaniasis, are currently in progress and do involve significant participation from scientists in disease-endemic countries, especially those of Latin America.

In fact, global cooperation has enabled the identification of genes for cystic fibrosis, hereditary forms of colon cancer and breast cancer, and neurodegenerative disorders such as Huntington’s disease. Key collaborations between the North and South contributed to an understanding of the molecular basis of thalassemia, now recognized as the most common monogenic, or single gene, disease in humans. As a result, thalassemia was the first disease to be diagnosed prenatally, and prenatal diagnosis for hemoglobin disorders is now available in many resource-poor countries. According to the WHO’s “Genomics and World Health Report,” population-based genetic screening programs combined with genetic counseling, prenatal diagnosis, and public education have generally been tremendously effective in controlling the birth rate of thalassemia in several at-risk areas, including the Mediterranean basin, Thailand, and India.

Such global collaborations offer benefits to all parties involved and can contribute to health worldwide. However, it is important to treat these cooperative ventures as true partnerships with respect to sample collection, data analysis, publication, and potential benefits. This includes engaging the communities involved in genetic studies in discussions of the ethical, legal, and social issues surrounding genetics research. For the collaborating scientists and foreign institutions, one prime benefit may be to provide the training needed to create a sustainable genetic science in the partner foreign institutions. Otherwise, despite the well-meaning efforts of researchers, it may be perceived that genes are now being harvested by foreigners just like other natural resources have been in the past, with little return to the countries that provide the resource.