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The article consists in a review of the human genome project, launched a decade ago to characterise the entire human genome. The project has proved highly successful, due both to the economy of so large scale an endeavour and to the value of gaining access to such an abundance of biological information. Accordingly, similar approaches have also been adopted in efforts to characterise the entire range of genes expressed as mRNA and as protein. Genomic information has become an invaluable asset to biomedical research, and both the information obtained and the methodology developed are now important adjuncts of pharmaceutical research. Applications in clinical medicine follow, albeit at a slower rate.

Methodological improvements in molecular genetics will provide inexpensive, efficient methods suitable for routine clinical diagnosis in a wide range of conditions. Assay sensitivity is greatly enhanced by pre-amplification of the target nucleic acid segment, enabling extremely scant tissue samples to be analysed and low grade infections to be detected. Reagent kits and instruments are becoming available for detecting specific nucleic acids, distinguishing variant sequences, and establishing copy number; and RNA analysis will furnish insights into a diversity of acute reactions. However, perhaps the most important benefit of DNA diagnostics will be to open up predictives perspectives in medicine.