Melbourne Genomics Health Alliance is untangling the secrets of cells

It is a miracle of modern medicine that has been life-changing for thousands and Victoria is already a world-leader in genomics medicine.

It is a miracle of modern medicine that has been life-changing for thousands of Victorians. Called genomics medicine, it untangles the secrets of human cells to diagnose rare conditions, predict outcomes and guide treatment.

Victoria is a global leader in this discipline thanks to a collaboration of hospitals, research and academic institutions called the Melbourne Genomics Health Alliance.

It opened a decade ago this month and has since helped to make genomic medicine a part of routine healthcare in Victoria.

Henry and Edward with mum and dad Cara and Steve. Picture: Rodney Dekker

The Alliance has been a leader in providing real-time evidence for its use in patient care which has included pioneering rapid genomic sequencing for critically-ill babies.

Almost 4000 Victorians have now received this type of testing for conditions including rare childhood syndromes to acute myeloid leukaemia, focal epilepsy, solid cancers, congenital deafness, neurological and immunological conditions and kidney disease.

The results, the Alliance says in its tenth anniversary report called Genomics in Victoria: What’s changed in 10 years, have been nothing short of astonishing.

Executive director of Melbourne Genomics, Clara Gaff, offers as an example that more than two in five cancer and rare disease patients received an answer about their condition more quickly and doctors were able to change the care of over half of those patients as a result.

The report also reveals some patients received simple but life-changing treatments while others went from being terminal to cancer-free.

The Lacey family: Edward, mum Cara, dad Steve and brother Henry. Picture: Rodney Dekker

Releasing the report last week Health Minister Mary-Anne Thomas said life-changing advances in genomic medicine have given Victorians answers when other tests could not.

“It typically takes an average of 17 years for research evidence to reach clinical practice, meaning the achievements of the Melbourne Genomics Health Alliance in just 10 years are nothing short of remarkable,” she said.

Edward Lacey, five, is a success story of genomic medicine.

His mother Cara Lacey is a pediatric doctor and together with dad Steve said it helped the family to discover what was causing cysts on his kidneys.

In the report Dr Lacey said after his birth a scan showed Edward had multiple cysts on his kidneys, but standard tests couldn’t explain why, or predict whether he’d need a kidney transplant.

“That news was really hard to hear because I’d allowed myself a glimmer of hope. But knowing the cause of Edward’s kidney disease was important, because that would give us an idea of his prognosis and what kind of care he’d need,” she said.

That’s when a nephrologist at the Royal Children’s Hospital organised a genomic test, which pinpointed the rare gene variant responsible for Edward’s kidney disease.

This gave his doctors the right information to manage his condition, and reassured Mr and Mrs Lacey that their son would have a normal childhood.

The test also showed that Edward’s condition was not inherited, but happened spontaneously at conception – meaning his older brother Henry was unlikely to be affected.

Prof Gaff said for 10 years Victoria had laid the groundwork to bring genomics into healthcare and thousands were healthier and safer because of it.

“Now we’re just a few critical steps away from genomic medicine being accessible to every Victorian who needs it,” she said.

The Alliance members include the Royal Melbourne Hospital, Royal Children’s Hospital, University of Melbourne, Walter and Eliza Hall Institute, Murdoch Children’s Research Institute, CSIRO, Australian Genome Research Facility, Peter MacCallum Cancer Centre, Austin Health and Monash Health.

“This is proof that our continued backing of world-leading medical research can change and save the lives of some Victorians – it is so impressive to see how the path between research and routine healthcare has become easier,” Minister for Medical Research Ben Carroll said.

At a glance:

• The health of more than 4000 Victorians has been helped by genomics medicine

• Medicare funds some genomic tests

• The genome is sequenced and analysed by computer programs to identify any gene variants

• The Victorian Government has invested more than $35 million in the Alliance’s work