Unlocking genetic mysteries

Prof Julie McGaughran and the Genetic Health team are helping provide answers to families state-wide

Queensland’s only public genetic health service is providing answers for people with rare and inherited conditions.

Professor Julie McGaughran is the Director of Genetic Health Queensland, a state-wide service hosted by Metro North Health that provides diagnosis, assessment, counselling and management advice for people and families with a wide range of genetic conditions.

“We see patients across the whole of the state of all age groups,” Prof McGaughran said.

“Genetics starts with prenatal, we do have a lot of involvement in prenatal care, but also through to older adults.

“We actually see the full lifespan and in fact, some of our younger patients who then grow up and then have children themselves, we see families across the lifespan, and I think that’s one of the key differences with genetics is it’s not just about the individual, it’s about the family.”

Patients are referred to the genetic health service, and will then have a clinical assessment to assess if testing is clinically appropriate.

With many cancers having genetic factors, including breast, bowel and ovarian cancers, the patient cohort are divided into two large clinical groups – cancer and non-cancer.

“Then there’s the rare tests for a patient with genetic or congenital abnormalities and chromosomal diagnosis,” Prof McGaughran said.

“A lot of these patients are paediatric, and within that we have different specialty clinics, which include cardiac, renal and urology.”

The tests, which are commonly done by blood test, extract the quality DNA and which is then sent to one or multiple labs depending on what condition is being investigated. Prof McGaughran said currently a few tests are sent overseas, but over time, the hope is to do more testing in Australia.

“The tests are evolving as we are discovering more conditions, which will inevitably bring huge relief to some families who are chasing answers,” she said.