Genetic illnesses become easier to diagnose in Canberra
Canberrans with rare and hard to diagnose illnesses may have a new avenue for answers, after the Canberra Clinical Genomics facility was accredited for whole exome sequencing.
Exome sequencing involves identifying and mapping out the protein-coding region of genes in a genome, meaning variations, or errors causing illnesses can be found.
For a patient, it may be as simple as another blood test, but the technology that comes next is highly complex and not easy to do.
In a process that can take as little as four to six weeks, patients could then be given the answers they need to make treatment decisions and to inform their families of possible genetic issues.
Canberra Clinical Genomics is the only laboratory in the ACT to be accredited by the National Association of Testing Authorities and one of just 10 laboratories in the country to have the same accreditation.
This week's announcement comes almost two years after the ACT government committed $7.3 million to the centre, with Health Minister Meegan Fitzharris calling it a nationally significant development.
"It's particularly important for people with rare and undiagnosed illness that often confounds conventional approaches to diagnostics. It's also an important stepping stone towards the wider adoption of precision medicine," Ms Fitzharris said.
About 300 to 400 people could have their exomes sequenced in the first year after accreditation.
Dr Matthew Cook, professor of medicine at Australian National University said the technology realises the promise of medical advancement.
"A whole exome sequence that identifies that one in 50 million base substitution can yield a diagnosis," he said.
The accreditation was an important milestone for the centre, Dr Cook said.
"The NATA accreditation is the most substantial indicator of the quality of any diagnostic platform for any method, achieving this for whole exome sequencing service, given the complexity of sequencing the whole genome, is a significant achievement," he said.