MAY 11, 2017 07:30 AM PDT
Keynote Presentation: Genomics in the clinic: A revolution for healthcare and medical research
Presented at the Genetics and Genomics 2017 Virtual Event
1 1 129

  • Head of Clinical Genomics, Garvan Institute of Medical Research, Conjoint Associate Professor at the University of New South Wales
      Marcel Dinger is the Head of Genome Informatics at the Garvan Institute of Medical Research and conjoint Associate Professor at UNSW Australia. After completing his PhD at the University of Waikato (New Zealand), he was awarded a NZ FoRST Postdoctoral Fellowship to join Professor Mattick's group at The University of Queensland to study the role of long noncoding RNAs in mammalian development and disease. He was recruited to the Garvan Institute in 2012.


    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.

    Show Resources
    Loading Comments...