Australia Leads World #1 Global Effort To Improve Diagnosis Of Genetic Disord

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Australia Leads World First Global Effort To Improve Diagnosis Of

Genetic Disorders

http://www.medicalnewstoday.com/articles/128469.php

An Australian-led global initiative to improve the diagnosis of

genetic disorders and reduce errors in the reporting of genetic

variations will be published in the prestigious scientific journal

Science on Friday 7 November (AUS).

" There is a staggering error rate of up to 40 percent in some

reporting of genetic variations, " said Professor 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. "

Over 60 percent 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.

" In a world first, we aim to collect information on every fault in

every gene worldwide. "

" Ultimately the project will provide the first global standardization

of the reporting of genetic mutations and their effect on human

health so clinicians can reliably diagnose, treat and inform

patients, " he said.

The Australian-led global project combines the talents of University

of Melbourne researchers and colleagues within the Florey

Neuroscience Institutes, the Department of Medicine at the Royal

Melbourne Hospital and the Epilepsy Research Centre, as well as

international colleagues from around the globe.

The project has the support of World Health Organization, UNESCO and

OECD countries.

The completion of the Human Genome Project in early 2000 empowered

researchers with the genomic mapping of the human body. But out of

the 20,000 human genes mapped, only 3,000 have any information

available on their variations.

" In the next few years it is expected that the number of genes in

which disease-causing variations are recognized will increase

dramatically, " Professor Cotton said.

" Currently there is no standardized way to capture this information

and make it of use to clinicians. "

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.

The Science paper details the establishment of a range of pilot

projects being organised 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 signed on to these pilots include Australia, China,

Japan and Kuwait.

" Once these pilot projects are complete, we will be able to roll out

suitable systems around the globe and improve the health of billions

of people, " he said.

One of the areas the pilot will be tested is colon cancer. World

leader in colon cancer Professor Finlay Macrae in the University's

Department of Medicine at the Royal Melbourne Hospital is a co-

author on the paper.

As Secretary of InSiGHT, the International Society for

Gastrointestinal Hereditary Tumours, Professor Macrae has been

instrumental in establishing some of the first gene specific pilots

for four of the genes predisposing to colon cancer.

" Colon cancer is the commonest internal cancer affecting both men and

women in the western world, " Professor Macrae said.

" Genetic predispositions to colon cancer are now well recognized.

Testing for mutations in some of these genes is critical to

establishing risk for bowel cancer in some families. However, the

information needed to interpret mutations is widely scattered and not

readily available. "

" Providing systems to comprehensively and readily access this

information is the aim of the worldwide InSiGHT/Human Variome Project

pilot, " he said.

Neurologist Professor Sam Berkovic of the University of Melbourne and

Austin Health, and co author on the paper explains the significance

of gaining better access to genetic variations for diseases affecting

the brain.

" There is a real challenge for neurologists to ascertain the genetic

make up of the many diseases affecting the brain such as epilepsy,

Alzheimer's and degenerative disorders. Access to extremely varied

genetic information is critical as patients develop these diseases

over a period of time, " Professor Berkovic said.

" This project opens the doors to earlier understanding and treatment

of these complex conditions. "