Australia Leads Effort To Improve Diagnosis of Genetic Disorders

Australian scientists are leading a global initiative to improve the diagnosis of genetic disorders and reduce errors in the reporting of genetic variations.

Over 60% of people worldwide will be affected by a genetic change at some point in their lives that can result in a range of diseases such as cystic fibrosis, epilepsy, and cancer.

The Human Genome Project completed in early 2000, succeeded mapping the human genome. However, of the 20,000 human genes mapped, only 3,000 have any information available on their variations.

The Australian-led global project, called the Human Variome Project, is being conducted by University of Melbourne (Australia) investigators and colleagues within the Florey Neuroscience Institutes (Melbourne, Australia), the department of medicine at the Royal Melbourne Hospital (Melbourne, Australia), and the Epilepsy Research Center (Melbourne, Australia), together with other scientists from around the globe.

The global initiative was published in the November 2006 issue of the journal Science. Prof. Richard Cotton, lead author of the study, convener of the Human Variome Project, and honorary researcher at the University of Melbourne said, "There is a staggering error rate of up to 40% [in] some reporting of genetic variations. This means clinicians and specialists cannot solely rely on the research literature to inform the life and death decisions of diagnosis and prognosis of genetic disorders.”

The Human Variome Project will produce standards for the storage, transmission, and use of genetic variation information, which for many will reduce the enormously time-consuming task of seeking data to assist in providing patients with information.

A range of pilot projects are being organized around the world that will examine how to systematically collect genetic, clinical, and biochemical information in either a country- specific or gene-specific manner. Countries already planning to participate in these projects include Australia, China, Japan, and Kuwait.

The project has the support of World Health Organization (WHO; Geneva, Switzerland), the United Nations Scientific and Cultural Organization (UNESCO), and the Organization for Economic Cooperation and Development (OECD) countries.

Related Links:
University of Melbourne
Florey Neuroscience Institutes
Department of Medicine at the Royal Melbourne Hospital
Epilepsy Research Center
World Health Organization
United Nations Scientific and Cultural Organization
Organization for Economic Cooperation and Development