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University of Melbourne

Australia leads world first global effort to improve diagnosis of genetic disorders

Published in Pain and Central Nervous System Week, November 24th, 2008

An Australian-led global initiative to improve the diagnosis of genetic disorders and reduce errors in the reporting of genetic variations has been published in the prestigious scientific journal Science.

"There is a staggering error rate of up to 40 percent in some reporting of genetic variations," said Professor Richard Cotton, lead author of the paper, Convenor of the Human Variome Project and honorary researcher at the University of Melbourne.

"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."

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