In this in-depth feature we explore how whole genome sequencing is moving rapidly from the bench to the bedside as research institutes around the country start to commercialise their expertise.
Clinicians can expect to learn much more about the variants and mutations underlying their patients’ disease and use that information to individualise therapy.
In Queensland, QIMR Berghofer has just launched a new company genomiQa that will specialise in whole genome somatic analysis of cancers.
Co-founder of genomiQa Dr Nicola Waddell said clinicians can increasingly expect to be treating cancers based on a genotype or phenotype rather than the tissue of origin.
“As an example, Keytruda has become the first drug to be FDA approved for all cancers with a specific mutation related to microsatellite instability.”
If similarly approved in Australia, Keytruda (pembrolizumab) may be used for a range of solid tumours including mesothelioma, colorectal cancer or endometrial cancers.
Dr Waddell said genomiQa’s clinical service would focus on identifying ‘actionable targets’ – well-characterised variants or mutations for which there were approved treatments.
But along with known mutations such as HER2, BRCA and ALK gene mutations, whole genome analysis will also help identify new potential targets.
“There will be immediate benefits to patients where there are known treatments. But we will also have the data to suggest other targets. For example, in non-small cell lung cancer the ALK gene can be fused with different gene partners. We hope to identify all those gene partners.”
genomiQa is still working through the NATA accreditation process and expects to be delivering clinical services by the end of the year. They are currently looking to establish partnerships with hospitals, doctors and pathology services.
Dr Waddell said while Medicare did not yet cover whole genome sequencing, genomiQa were working to keep the costs down and the service accessible.
Genomics for prevention
Meanwhile, a commercial spin-off from the Garvan Institute of Medical Research and its Kinghorn Centre for Clinical Genomics is expanding its offerings direct to consumers.
Originally focussed on the diagnosis of rare genetic diseases in children, and other germline mutations, Genome.One has just launched a whole genome sequencing and health assessment service to help individuals better understand and manage their future risk of disease.
Associate Professor Marcel Dinger, CEO of Genome.One, told the limbic the service was a natural progression in the delivery of precision healthcare.
“As genomics moves into the mainstream, it is no longer exclusively about diagnosis but also prevention and early detection.”
“We have taken a very conservative approach to what clinically significant information can be derived from the genome today and have chosen the genes we analyse very carefully. Any pathogenic variation in genes would need to have a substantial chance of causing disease,” he said.
Together with a comprehensive health assessment including resting and stress ECG and pathology testing, whole genome sequencing at Genome.One offers predictive information on 31 cancers, 13 cardiac conditions and five other hereditary conditions.
Professor Dinger estimates only 5-10% of people will have a specific risk identified, but for those individuals it will be an ’incredibly useful piece of information’.
For example, it may provide the evidence – and motivation – for more frequent cancer screening or other preventive health measures.
He says the service will attract people with a family history of cancer or heart problems along with the curious and the health conscious, but is a worthwhile step towards redressing the healthcare system’s unsustainable focus on treatment over prevention.
Genome.One is also offering a ‘pioneering product’ in pharmacogenomics – identifying the gene mutations that influence an individual’s ability to metabolise some 220 medications.
Identifying faulty genes responsible for enzyme deficiencies known to put patients at risk of serious adverse events during anaesthesia was just one example, he said.
“In the future, fewer drugs will be prescribed without knowledge of a person’s metabolism and potential for adverse reactions. Price is the only thing standing in the way.”
Professor Dinger said clinicians should be considering which of their clinical decisions could be influenced by additional genetic information.