Genetics in Medicine

Canberra Clinical Genomics (CCG) works to aid in the diagnosis of complex diseases by genomic testing. These can aid in finding treatments that are personalised to their condition. So far, genomic sequencing has had greatest impact on people with rare disorders based on a single abnormality, allowing doctors to work out the mechanism of the disorder and find an effective treatment. Director, Professor Matthew Cook, said this new service would make a real difference to patient lives.

"This enables doctors and researchers to collaborate and implement what is truly 21st Century medicine," Professor Cook said.

"The clinical centre will build on the research and discovery pipeline established by the Centre for Personal Immunology. It will provide a pathway for true translation of discoveries to make a meaningful difference to the management of patients."

The Centre for Personalised Immunology (CPI) was established in April 2014 to help people with immune diseases by discovering causative genetic variation with the goal of delivering treatment strategies targeted to the individual. Co-director of the Centre for Personalised Immunology, Professor Carola Vinuesa, said the establishment of the service was the culmination of more than 15 years of research.

"We are bringing the era of precision medicine for the first time to patients in the ACT," Professor Vinuesa said.

"Patients will be diagnosed according to their genetic makeup and we will tailor a therapy to the patient's individual genetic defect."

For some patients, pinpointing the exact cause of disease could lead to easy resolution with existing therapies. More complex cases will be fed back to researchers in the Centre for Personalised Immunology, funded by the NHMRC, for more detailed investigation.

ANU Vice-Chancellor Professor Brian Schmidt AC said this new service recognised the University's leadership in this field, and he thanked the ACT Government for its support.

"This is the future of medicine, that will bring truly innovative medical treatments to the community and make a real difference to patients," Professor Schmidt said.