NEW YORK (GenomeWeb) – The Kinghorn Centre for Clinical Genomics at the Garvan Institute of Medical Research in Sydney said today that it is launching a clinical whole-genome sequencing service for the diagnosis of rare genetic conditions.
The center said it developed the service, the first of its kind in Australia, for the last two and a half years in partnership with NSW Health Pathology, the country's largest provider of public pathology services. The WGS service will be offered by Genome.One, a new health information company owned by the Garvan Institute.
NSW Health Pathology will work with clinical genetic services to determine whether patients with an undiagnosed genetic condition are suitable for the WGS test.
"For families, receiving an accurate and timely diagnosis could result in access to new treatments and therapies as well as a clearer understanding of the journey ahead,” said Marcel Dinger, head of the Kinghorn Centre for Clinical Genomics, in a statement.
The hope is that the new service will increase the diagnostic rate for rare genetic conditions from currently 20 percent to between 40 percent and 60 percent, according to the institute.
Earlier this year, Mark Cowley, a bioinformatics researchers at the Garvan Institute, presented results from the center at a meeting, saying that the researchers were able to diagnose more than half of a cohort of 308 patients with rare genetic diseases by whole-genome sequencing, using Illumina HiSeq X Ten instrumentation at the center.
Genome.One will use the DNAnexus platform to manage, analyze and secure the data for the WGS service. The Garvan Institute has been working with DNAnexus since 2015.