The human genome project and the future of medical practice

Abstract

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.