Enhanced discovery of disease genes and availability of DNA- based diagnostic methods

Abstract

Contrary to the skepticism that characterized the planning stages of the human genome project, the 
technology and sequence data resulting from the project are set to revolutionize medical practice for good. 
The expected benefits include: improved 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, pre-symptomatic testing and 
population screening; the availability of more effective and more tolerant drugs, which will result in more 
effective therapies characterized 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.