MAY 09, 2018 06:00 AM PDT

Point-of Care Genomics: A New Horizon in Personalized Healthcare

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  • Head, Kinghorn Centre for Clinical Genomics, Garvan Institute; CEO, Genome.One
      Marcel Dinger is the Founding CEO of Genome.One, Head of the Kinghorn Centre for Clinical Genomics (KCCG) at the Garvan Institute of Medical Research and conjoint Associate Professor at UNSW Australia. Genome.One is a world-class clinical genomics service and develops specialist software and analytics solutions to enable precision healthcare worldwide. Genome.One was one of the first companies in the world to implement the HiSeq X Ten genome sequencing platform, which has capacity to sequence 18,000 human genomes per year, and provide a disease diagnostics service based on whole genome sequencing. He has worked in bioinformatics and genomics since 1998 in both commercial and academic capacities. He was awarded his PhD in 2003 from the University of Waikato in New Zealand, has published >90 papers attracting more than 10,000 citations, and is recipient of several highly competitive awards and fellowships. He is also a founder of two other successful start-up companies. In 2016, Marcel was admitted as a Fellow into the Faculty of Sciences of the Royal College of Pathologists of Australiasia and is a Graduate of the Australian Institute of Company Directors.


    Genomic information has the potential to improve management or potentially prevent or enable early intervention of virtually every disease. However, despite massive technological leaps and exponential decreases in costs, genomics currently plays a relatively niche role in healthcare, with clinical use largely limited to diagnosis of pediatric disorders or as a last resort in guiding cancer treatment. 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 service, now incorporated into spinout Genome.One, routinely sequences over 1,000 human genomes per month and is clinically-accredited for diagnostic testing of or predisposition to 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 its utility in personal health management and disease prevention. I will also discuss the challenges and opportunities for using genomic information to inform health at point-of-care, the incorporation of genomic information into medical records and its potential to transform medical research.

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