Genetic quirks identified with a unique blueprint

Posted: Published on June 8th, 2013

This post was added by Dr Simmons

Empowered: Howard Jacob can tackle problems before they arrive. Photo: Joe Armao

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

''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 that a baby is born.''

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 last year, Professor Jacob learnt of the genetic quirks that lurked in his family tree, including a predisposition to breast cancer for his female relatives.

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The genetics field is developing so rapidly that, like any other app on his tablet, Professor Jacobs needs to update the data.

On Wednesday, not long after arriving in Melbourne from Wisconsin, he learnt he was susceptible to Creutzfeldt-Jakob disease - also known as mad cow disease.

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

He also points out that the presence of a genetic variation doesn't guarantee a disease will develop.

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Genetic quirks identified with a unique blueprint

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