Genetic testing currently plays a relatively niche role in healthcare, with testing typically limited to single genes and targeting a relatively narrow range of diseases, including paediatric disorders, familial cancer and somatic cancer. Recent years has seen exponential decreases in costs of massively parallel DNA sequencing technology, which has dramatically expanded the potential application for genetic testing of other diseases. The Garvan Institute’s Kinghorn Centre for Clinical Genomics was one of the first sites in the world to acquire technology to sequence whole human genomes at scale. The facility now routinely sequences over 1,000 human genomes per month and is NATA-accredited for diagnostic testing of genetic disease. In addition to serving as a highly effective approach for diagnosing diseases that can be caused by large numbers of different genes, whole genome sequencing has potential for reanalysis in different contexts. This potential argues for a new testing paradigm, where genomic sequencing is undertaken once in an individual’s lifetime and analysed throughout their lifetime to guide clinical decision-making and optimise health management. Here I will present on our implementation, clinical accreditation and performance of whole genome sequencing in the routine diagnosis of genetic and rare diseases, and discuss the challenges and opportunities for using genomic information to inform whole of life healthcare.
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