Breakthrough test giving lifesaving head start to patients treatment

Melbourne scientists have developed a breakthrough genetic test that will give patients a headstart on treatment that could save their life.

Immunosis have developed a test capable of diagnosing PIDs from a blood sample. Picture: AFP

Breakthrough genetic tests capable of diagnosing immune conditions are hoped to give patients a lifesaving headstart on their treatment.

Developed by Melbourne scientists, the world-first genetic tests are intended to more accurately identify some of the 400 primary immune deficiency disorders, or PIDs, experienced by more than 12,000 Victorians.

While the immune system-weakening conditions can leave people vulnerable to severe diseases — including cancers — they remain difficult to diagnose, leading to protracted and frequent infections for most sufferers.

But after uncovering a genetic cause of PIDs in recent years, a team from the Royal Melbourne Hospital health start-up Immunosis has developed a test capable of diagnosing the conditions from a blood sample.

Following a three-year pilot study that demonstrated the genomic testing algorithm can predict PIDs with 93 per cent accuracy, the Melbourne consortium has now been backed by the state government to begin a wider clinical trial later this year.

A team from the Royal Melbourne Hospital health start-up Immunosis has developed a test capable of diagnosing the conditions from a blood sample. Picture: AFP

RMH director of research Jo Douglass said the long diagnostic journeys faced by PID patients had to be reduced.

“Once patients are accurately diagnosed with PID, personalised treatment can be offered which has real benefits in improving health and quality of life,” Prof Douglass said.

“That’s why developing an accurate diagnostic test for PID is so important.”

PID are a collection of more than 400 conditions in which a person is missing components of their immune system, reducing their ability to fight infections and making them more likely to suffer illnesses such as chronic lung disease, lymphoma, and auto-immune illnesses including ulcerative colitis and anaemia.

Those suffering PID’s require lifelong treatment, such as regular antibody infusions to supplement their immune systems.

RMH’s director of research Professor Jo Douglass. Picture: Julian Smith

In an effort to improve the outlook for thousands of Victoria with PIDs, the government’s

Victorian Medical Research Acceleration Fund has provided $100,000 for a clinical trial which is already recruiting potential participants.

Funding for the study — which is also supported by the RMH, the Walter and Eliza Hall Institute and the Murdoch Children’s Research Institute — has been matched by Victorian biotech start-up Immunosis.

Minister for Innovation Jaala Pulford has welcomed the trial. Picture: Nicki Connolly

As well as providing more rapid and improved treatment for PIDs, the genetic breakthrough may also have benefits for the wider health system, with recent studies showing rapid diagnosis can reduce a patient’s annual days in hospital from 19.8 to 3.1 while cutting in half the number of days they have to take antibiotics.

Minister for Innovation, Medical Research and the Digital Economy Jaala Pulford welcomed the start of a clinical trial.

“This clinical trial presents a great opportunity for Victorians with primary immune deficiency disorders to not only be diagnosed sooner but have access to treatment earlier, greatly improving their quality of life,” Ms Pulford said.

“By supporting new clinical trials, we’re backing our world class medical researchers, creating more jobs and improving health outcomes for Victorians.”

Launched in 2017, the VMRAF provides $3m in grant support to accelerate health and medical research with a focus on projects intended to have a real-world impact.