On Wednesday, Garvan Institute of Medical Research launched their new genomic pathology service Genome.One. Genome.One is accredited by NATA to the ISO 15189 standard and is able to offer whole genome sequencing (WGS) as a diagnostic test. It is the first genomic pathology service in Australia and reportedly only the second in the world.

A first draft of the human genome was published a little over a decade ago as the culmination of The Human Genome Project. The Human Genome Project has been described as one of the greatest feats of exploration in history.

I first became interested in genomic medicine as a student editor of my university law journal not long after the completion of the Human Genome Project. The editorial team had timed a special edition to coincide with the release of the Australian Law Reform Commission’s landmark report Essentially Yours: The Protection of Human Genetic Information in Australia. The progress in genomics since that time has been quite astonishing, with advances in sequencing speed and decreases in cost significantly exceeding the famous ‘Moore’s Law’ of computing power. Genome.One uses massively-parallel sequencing technology supplied by San Diego based Illumina, Inc. that facilitates genome sequencing on an industrial scale.

The service Genome.One have brought to market is a diagnostic test which applies sophisticated bioinformatics and clinical expertise to the enormous amounts of data derived from genome sequencing to produce a clinical report authorised by a specialist genomic pathologist. The initial application of Genome.One’s WGS technology is to diagnose rare forms of inherited genetic disorders caused by single-gene variants (what are referred to as Mendelian or monogenic disorders). Whole genome sequencing has particular diagnostic utility in this application as it is able to substitute for an often heart-breaking, trial-and-error process of testing for single genetic variants until a diagnosis is found. A patient undergoing WGS in this diagnostic context will typically be under the care of a clinical geneticist or a specialist and will have undergone comprehensive genetic counselling to understand the implications of WGS not only for themselves but their families and genetic relatives.

Many observers expect genomics to become ubiquitous in medicine in the years to come. Will we each hold a digital copy of our genome in a personally-controlled e-health record available to be analysed wherever there is clinical utility to do so? Quite possibly. In the not-too-distant future, we will certainly see genomics utilised in drug prescription (known as pharmacogenomics), cancer treatment and more complex, multi-factorial diseases.

All of these applications have profound legal implications in fields such as privacy, insurance and anti-discrimination and sophisticated legal and public policy solutions will be required as genomic medicine becomes a feature of the healthcare landscape.