Garvan Institute: genome sequencing, the prospects for genomics and precision medicine

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Publication Date: 
November 2017
Case study from: Australia 2030: Prosperity through Innovation

Caring for a loved one with a rare genetic condition can be a frustrating, emotional and lengthy process. Although individual conditions are rare, the aggregate of all rare conditions is significant: conservative estimates are that 6 per cent to 8 per cent of Australians have a rare condition, and 80 per cent of these conditions are genetic in origin.

Recent achievements in genome sequencing by Australian researchers now allow life-changing care for those with rare conditions, often enabling detection of the precise genetic variation causing the disease, and treatment approaches tailored to the individual.

At the age of three, Alan was diagnosed with a rare condition in which his immune system attacked his blood cells. The condition was potentially life-threatening, and his medical specialists did not know what was triggering the immune reaction, and therefore could not treat the underlying cause.

At age seven, Alan was accepted into a research program run by the Garvan Institute of Medical Research in Sydney to sequence the entire genome of individuals in an effort to diagnose their genetic conditions.

The work became urgent when Alan’s health suddenly deteriorated, leaving him critically ill in hospital and facing an uncertain future unless the condition could be treated. The sequencing of Alan’s genome enabled his medical team to quickly pinpoint the genetic variation responsible for the condition. Medical researchers scanned medical literature and discovered that a new drug had been trialled in the United States with patients having the same genetic variation, with promising results. Special access to the drug was rapidly approved for Alan.

The results were life changing. After Alan started the drug, his platelet, neutrophil and red blood cell counts miraculously reached their normal range over time, putting his life out of danger.

Six months later, he was well enough to go to school for the first time, and able to ride a bike and play like other children.

The identification of the gene variant responsible is now also enabling researchers to research new precision treatment options.