Whole genome sequencing provides better diagnostic yield and future value than whole exome sequencing

John S Mattick, Marcel Dinger, Nicole Schonrock and Mark Cowley
Med J Aust 2018; 209 (5): . || doi: 10.5694/mja17.01176
Published online: 9 April 2018

The integration of genome sequencing with clinical records and data from the internet of things will transform health care

There is a great deal of optimism about the potential of genomics to transform medicine and health care. That optimism is justified. Indeed, it is hard to imagine a future where personal genomic information is not consulted routinely at the point of care. Every one of us is different, with personal genetic idiosyncrasies and risks — of cancer, cardiac arrest, blood clots, emphysema, diabetes, arthritis or toxic reactions to medications, among many others; the list will only continue to grow. Knowledge of individual genetic variation will change medicine from the art of crisis response to the science of health management, with huge benefits, both individually and systemically. It will also create new enterprises at a time of rapid change in the largest and fastest growing industry in the world.

  • 1 Garvan Institute of Medical Research, Sydney, NSW
  • 2 St Vincent's Clinical School, UNSW Sydney, Sydney, NSW
  • 3 Kinghorn Centre of Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW



We thank Howard Jacob for his comments on the manuscript. This work was supported by funding from the Kinghorn Foundation, the New South Wales State Government and the National Health and Medical Research Council of Australia.

Competing interests:

The Garvan Institute of Medical Research is the owner of Genome.One, which is clinically accredited (ISO15189) to provide whole human genome sequencing and analysis.

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