Abstract
The completion of the Human Genome Project, and recent breakthroughs in identifying the genes both directly responsible for and contributing to the severity of specific diseases and disabilities in humans offer great potential for future health care. The aim of the paper is to inform the health information community of these developments in order to foster debate over their wide-reaching implications. The article outlines recent research in this area and explains how our growing understanding opens the way for improved diagnosis of disease, detection of possible predisposition to specific diseases, the interaction between genetics and environmental aspects such as diet, as well as enabling gene therapy and preventative actions. This new knowledge also opens the way for the use of pharmacogenetic information to enhance the efficacy of pharmaceuticals and to avoid toxic reactions. These advances have significant social, legal and ethical implications. Most countries have limited legislative control over the use and protection of genetic information about individuals. There is a role for health information professionals to play in promoting wider public knowledge of genetic research and its implications, in fostering public debate on key issues, and in seeking clearer policies in the health sector concerning the use of genetic information about individuals.
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