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)

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