Major leap for Australian genetic medicine

A new system bought by Sydney's Garvan Institute can map the genetic makeup of 350 people a week at a cost of $1000 each.

A researcher at the Garvan Institute in Sydney.

A new system bought by Sydney's Garvan Institute can map the genetic makeup of 350 people a week. (AAP)

Australian medicine has taken a leap into the future with the purchase of a system that can quickly and cheaply map a person's genetic makeup.

The new system bought by Sydney's Garvan Institute can map 350 people a week at a cost of $1000 each.

This means doctors will receive quick feedback on the best way to treat cancer patients and scientists will have massive power to build an Australian genetic database.

The system differs from current genetic testing in that it maps the entire genome rather than specific gene mutations such as BRCA1 and BRCA2 that cause breast and ovarian cancer.

The first whole human genome was mapped more than a decade ago by an international team of scientists at a cost $1 billion.

Garvan is one of a few organisations in the world to buy the HiSeq X Ten Sequencing System, according to an announcement in San Diego on Tuesday (Wednesday AEDT).

"Over the next few years, we have an opportunity to learn as much about the genetics of human disease as we have learned in the history of medicine," said Garvan executive director Professor John Mattick.

"We have reached a tipping point where genome sequencing has become achievable on a broad scale."

He expected genomic sequencing to become widely available to the general public in the next few years.

"With the advice of their physician, people will be able to avoid adverse drug reactions, understand and reduce their risk of diabetes, stroke or other conditions, and generally optimise their health," he said.

"There will be an enormous impact on national well-being and prosperity."

"I anticipate Garvan will serve as a genomics hub for Australia and possibly the region," said Prof Mattick.

"We are talking about a coming revolution," said Professor Allan Spigelman, acting director of Garvan partner, the Kinghorn Cancer Centre at St Vincent's Hospital.

In the past doctors had to wait months for a limited amount of information, he said.

The system would lead to improved treatments, so-called personalised or precision medicine.

"But I would hate to raise unrealistic expectations among patients and their families."

At present 18,000 genomes could be mapped a year but more capacity would be added over time.

"A lot of hard work is still needed across Australia to introduce this in a measured fashion that provides value to patients and their clinicians," he told AAP in a telephone interview from London.

Initially testing would be available to a limited number of patients through a referral from a specialist doctor.

"Doctors have a lot of experience with single-gene disorders like melanoma and breast, prostate and bowel cancer.

"What this testing does is look at every gene in much more detail.

"It is a very significant advance. These are exciting times."


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Major leap for Australian genetic medicine | SBS News