Genomic testing for rare diseases is now available as a routine and publicly funded diagnostic service at Canberra Clinical Genomics (CCG).
Genomics is cutting-edge medicine. Patients who are battling 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 now meets the rigorous standards required for National Association of Testing Authorities (NATA) accreditation, and is built on the capacity of discovery genomics research at John Curtin School of Medical Research.
“CCG is now one of only a few labs in Australia that is accredited for this advanced diagnostic exome sequencing,” Minister for Medical and Health Research Meegan Fitzharris said.
“NATA accreditation for CCG is not only of immediate importance for advanced diagnostic in Canberra, but is also an important stepping stone towards the wider adoption of precision medicine.
“The ACT Government recognised the importance of clinical genomics with our investment in 2016, and I am delighted to see such rapid progress. CCG is a service the ACT Government is proud to support,” said Minister Fitzharris.
Professor Matthew Cook, Director of CCG, said 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," Professor 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.”
Professor Mike Calford, Provost for the Australian National University (ANU) said CCG is an example of how cutting-edge medicine can be achieved and delivered by collaboration between health services and university-based research.
“Our continued partnership with ACT Health is leading to improved research capability and improved health outcomes for patients,” Professor Calford said.
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.
Pictured above, L-R: Dr Edward Bertram, Professor Mike Calford, Meegan Fitzharris MLA, Professor Matthew Cook, Dr Edda Koina, Mr Michael De’Ath