SciDev.Net

In this article, David R Bentley explores the potential role of genomics in diagnosis and treatment of human diseases. He summarises current knowledge of the human genome and describes research into disease-related human genes — more than 1,400 of which have been identified. He then discusses ways that this knowledge might be used to develop predictive tests or target research towards effective cures that correct or replace defective proteins.

The article describes various 'roadblocks' to the application of genomics to medicine such as a limited understanding of when and where genes are expressed, and what causes their expression. A limited understanding of how molecules function and interact and a lack of knowledge about the functional sections of DNA outside genes are further constraints.

Major advances in diagnosis and treatment of disease are likely to emerge from a fuller understanding and annotation of all of the functionally important elements in the human genome. Bentley calls for all new human genome data to continue to be made freely available to promote continued innovation and further progress towards this goal.

Reference: Nature 429, 440 (2004)

This article briefly considers the ways in which developing countries could benefit from the new drugs and vaccines that will result from mapping the human genome.

The impact of potential scientific advances will, the authors note, vary according to each country’s burden of disease, financial resources, educational attainment and health systems. But they suggest that even if only 10 per cent of the genome represents targets for new drugs, the possibility exists for creating at least 3,000 new molecular entities to combat disease.

Knowledge of the genome, the article goes on, should encourage medical researchers to seek out new interventions that are population-based and emphasis should be put on developing inexpensive drugs and vaccines that prevent disease and disability in populations. If not, the Human Genome Project has the potential to widen the gap in health care between the rich and poor on an unprecedented scale.