Medicine gets personal with gene app

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This was published 10 years ago

Medicine gets personal with gene app

By Bridie Smith
Updated

American geneticist Howard Jacob has glimpsed the future. Without medical motivation, he had his genome sequenced and now carries his genetic profile around with him via an app on his iPad.

''Within a decade this is going to be common,'' Professor Jacob said. ''And if you want to get the most bang for your buck, you'd do it on the day a baby is born.''

Named the hottest scientific field by Thomson Reuters this week, genomics involves the study of the genome: the body's genetic blueprint. How a genome is assembled is different for every person.

After having his genome sequenced for $9500 last year, Professor Jacob learnt of the genetic quirks that lurked in his family tree, including a predisposition to breast cancer.

(double exposure)Molecular geneticist Howard Jacob.

(double exposure)Molecular geneticist Howard Jacob.

The genetics field is developing so rapidly that, like any app, Professor Jacobs needs to update the data. On Wednesday, not long after arriving in Melbourne from Wisconsin, he learnt that he was susceptible to Creutzfeldt Jakob disease.

It sounds grim, but for Professor Jacob the information is empowering. It allows problems to be tackled before they arrive; to make lifestyle choices that reduce risk.

He points out the presence of a genetic variation doesn't guarantee a disease will develop. It just means that the carrier is predisposed to that disease.

In the case of breast cancer, if the two known genes associated with the disease - BRCA1 and BRCA2 - are identified, it means the carrier of the genes has an 85 per cent chance of developing the condition.

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He says sequencing the genome of newborns should become standard practice because genetic disorders tend to show up early in life. When symptoms of a rare disorder present themselves, doctors are not always able to make a quick diagnosis. This can lead to years of invasive testing.

In the case of one of Professor Jacob's patients, Lillian Yuska, a mystery illness meant six years of tests and scans. As a last resort, she had her genome sequenced. It revealed a mutation associated with an extremely rare genetic condition known as trichohepatoenteric syndrome. It's so rare that Lillian is the only child in America with the condition.

''It gave the parents and the family answers and it meant that at last we could treat her knowing what her condition was,'' Professor Jacob said. ''It's what we call personalised medicine.''

In Melbourne as a guest of the Australian Regenerative Medicine Institute this week, he argues gene sequencing should not be seen as a last resort, but the starting point.

As more people have their genome sequenced, he believes the price will come down, aided by advances in technology and computing power.

Today it costs about $17,500, a vast improvement on the $1 billion price tag a decade ago.

''Every day we learn more about the genome, so everyday that genome has more value,'' he said.

Only last month, Australian and American researchers identified six new genes associated with epilepsy, taking the number of known genes associated with the condition to more than 30.

Increasingly, genome sequencing is being used as a medical tool for diagnosis and treatment. ''Personalised medicine'' is already advanced in the US and Europe but it's in its infancy in Australia. But things are changing.

Last September, the country's first centre dedicated to matching disease treatments to genetic traits was launched in Melbourne. Jointly based at the Walter and Eliza Hall Institute of Medical Research and Murdoch Children's Research Institute in Parkville, the centre will concentrate on food allergies in children, juvenile arthritis, leukaemia, neural tumours and colon cancer.

''Right now we are only really doing genetic sequencing with critically ill people, or for people with undiagnosed diseases,'' Professor Jacob said. ''But I think that's going to change. It will become much more common.''

Clarification: The previous version of this story said that Creutzfeldt Jakob disease is sometimes known as mad cow disease. In fact it is variant, not classical, CJD that is linked to mad cow disease.

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