Enabling Genetics: Promise in the Developing World

Article excerpt

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.

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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. …