Genomic testing for rare diseases is now available as a routine and publicly funded diagnostic service at Canberra Clinical Genomics (CCG).
Patients with rare or life-threatening diseases can have their genetic make-up analysed in order for personally tailored treatment and medication plans to be developed to manage and treat their conditions.
CCG director Prof Matthew Cook says exome sequencing was transforming the way clinicians manage conditions and treat rare diseases.
“Sequencing one human exome is quite complicated. We all have about 20,000 genes, made up of a sequence of about 45 million A, C, T, and Gs,” Prof Cook said.
“I am extremely proud of our team, led by Dr Edda Koina, who have built on a discovery platform to implement a diagnostic service that meets the stringent requirements of the National Association of Testing Authorities, Australia in just 18 months.
“We are now delighted to be delivering genomic diagnoses to patients and their families.”
CCG is the only laboratory in the ACT and one of only a handful in Australia to be accredited to provide whole exome sequencing as a diagnostic service.
CCG is a collaboration between the ACT Health Directorate, Canberra Health Services and the ANU, which has benefitted from more than a decade of genomics research at the John Curtin School of Medical Research.
CCG is supported by a $7.3 million investment by the ACT government.