Breakthrough Chemotherapy Screening Test Shows Promise in Saving Lives

The national study, led by the University of Newcastle and involving experts from the University of Adelaide and the South Australian Health and Medical Research Institute (SAHMRI), has received a $2.7 million funding boost from the Federal Government.

The project will look at developing a more accurate screening test to detect patients at risk of severe reactions to a common type of chemotherapy. The study will also investigate the feasibility of rolling out the screening test in Australia.

“Up to seven per cent of the Caucasian population has a mutation which can impair their ability to clear chemotherapy drugs from their body. This genetic mutation accounts for 60-80 per cent of the toxicity caused by certain types of chemotherapy, with complications such as an organ failing often requiring the patient to be hospitalised. In some cases, this toxicity can even be lethal,” said Chief Investigator Dr Hannah Wardill from the University of Adelaide’s School of Biomedicine and SAHMRI.

The chemotherapy that causes this reaction in some people is fluoridimide-based and is commonly used to treat colorectal, pancreatic, breast, head, and neck cancers.

The team, which includes experts from Flinders University, is hoping to recruit around 5000 Australians who are scheduled to receive this type of chemotherapy, to take part in the national GENESCREEN trial.

Participants will undergo a blood test which will be used to analyse this specific gene and identify if they carry the mutation, with the results set to determine how common the mutation is in Australia while also identifying other genetic markers that could be incorporated into a more accurate screening test.

“Having a screening tool available in Australia will help to prevent unnecessary and potentially fatal reactions to chemotherapy. It will keep people out of hospital and avoid the costly resources needed to care for patients who experience a severe toxic reaction,” said Dr Wardill.

For people who have this genetic mutation, it is recommended that the dose of chemotherapy be reduced, but testing and associated dosing guidelines aren’t routinely enforced in Australia.

“Identifying these genetic mutations is becoming standard practice in Europe and the UK, and this has resulted in dosing changes for those at risk. Evidence internationally suggests reducing the dosage doesn’t change the effectiveness of the chemotherapy drugs on cancerous tumours, but does reduce the severity of side effects,” said Dr Wardill.

“Evidence collected from the GENESCREEN study will be used to support a submission to allow Medicare rebates for this screening test and to update clinical guidelines so it can be used as part of routine practice in Australia.”

The GENESCREEN study has been awarded the $2.7 million grant over four years through the Federal Government’s Medical Research Future Fund, which supports health and medical research in Australia.