Australian-first whole genome sequencing and health testing open to public – The Sydney Morning Herald

An Australia-first service that combines whole genome sequencing and a comprehensive health assessment couldofferindividuals anunprecedented glimpse into their future health.

People with a niggling curiosity and $6400 can now find out if their genetics and lifestyle has left themprone todevelopinga suite of life-threatening conditionsincluding 31 types of cancer and 13 heart conditionsacross 230 genes.

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Patients with rare genetic disease will have access to whole genome testing at Australia's first clinic in Sydney's Garvan Institute.

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Patients with rare genetic disease will have access to whole genome testing at Australia's first clinic in Sydney's Garvan Institute.

Launched on Tuesday by Sydney'sGarvan Institute's Genome.One lab and corporate clinic Life First, the service also offers individualsthe ability to predict how they would likely reactto more than 220 medications, allowing clinicians to better tailor treatment to their patients.

CEO of Genome.One Dr Marcel Dinger said the service marked the start of a new era in precision medicine that balanced an individual's genetic predisposition to disease with lifestyle factors.

"Today's launch is a major milestone towards transforming our health system into one based on truly individualised information and one that focuses on prevention rather than treating disease," Dr Dinger said.

"Genetic information provides an entirely new dimension to understand your health, but its value is best realised in the context of other health data.

"Personal and family medical history and lifestyle are key components for consideration in this service," he said.

With its hefty price tag and government subsidies, the service is geared towards those who can afford to pay for it and took a highly proactive approach to their health.

"Others are simply curious about what their genome holds, and if they have any predispositions they want to know about them," Dr Dinger said.

Blood samples provide the raw material needed to sequence a patient's genome. Individuals also undergo a physical examination as well as pathology testing and a review of lifestyle risks like smoking, diet and alcohol intake.

Genetic counsellors guidepatients through the process, explaining how the testing works, managing expectations and interpreting the results.

Roughly 5 per cent to 10per cent of people would discover they carried a genetic variation in their genes that put them at increased risk of one of the conditions the service tests for, Genone.One genetic counsellor Mary-Anne Young said.

"It's not about giving people good news or bad news. It's about explaining 'you have a variation in your genes that causes an increased risk or say, heart disease or cancer or another treatable condition'," Ms Young said.

"Some people are taken aback at first. But the counterbalance is that it doesn't necessarily mean they are going to develop the condition.

"It means they have a higher risk than the average person and they can take steps to reducing their risk," she said.

The service can refer patientsfor further testing, treatment and prevention programs via First Lifeprograms attached to St Vincent's outpatient clinicsin Sydney and Melbourne.

The service only offers testing for conditions with known treatments and effective evidence-based prevention strategies.

Medical ethicists have previously raised concerned about the potential of genetic testing for predispositions leading to over-testing and inappropriate treatment, and creating a cohort of "worried well".

"If people have those concerns we should be addressing them," Ms Young said.

"But I think this is less likely creating a society of worried well and more likely creating a preventative, personalised health system instead of waiting for people to develop the condition then doing something about it."

A total of 47,753 Australians will die of cancer, and 134,174 new cancers will be diagnosed in 2017, government estimatespredict

In 2015, heart disease was responsible for 45,392 deaths and 480,392 largely preventable hospitalisations,according to the Heart Foundation.

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Australian-first whole genome sequencing and health testing open to public - The Sydney Morning Herald