Contrary to the scepticism that characterised the planning stages of the human genome project, the technology and sequence data resulting from the project are set to revolutionise medical practice for good. The expected benefits include: enhanced discovery of disease genes, which will lead to improved knowledge on the genetic basis of diseases; availability of DNA-based diagnostic methods, which will find widespread application in preimplantation diagnosis, carrier screening, presymptomatic testing and population screening; the availability of more effective and more tolerant drugs, which will result in more effective therapies characterised by higher potency and reduced incidence of adverse reactions. However, there are still a number of technological, ethical, legal and social obstacles that must be addressed before these medical advances are incorporated into routine clinical practice. To justify the huge investments in the human genome project, the new advancements should be affordable by all, and must not result in a further widening of the gap between the quality of healthcare available in the resource-rich and the resource-poor countries.
Key words: Human genome, genomics, medicine, pharmacogenomics, therapy, diagnosis.
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