Perron/Murdoch contribution to cancer diagnostics research published in Nature Biotechnology

Professor Sulev Koks, who heads the Genetic Epidemiology Research group at the Perron Institute and Centre of Molecular Medicine and Innovative Therapeutics, Murdoch University, was a collaborator in two papers on related themes of improving cancer genomic diagnostics.

The research has been published in the top ranked international journal Nature Biotechnology.

The first paper focused on steps towards best practice in cancer mutation detection with whole-genome and whole-exome sequencing. The second on establishing community reference samples and data for benchmarking in relation to these genomic sequencing processes.  

The research team has developed a set recommendations and guidelines on how to improve the reproducibility and precision of tumour mutation detection in clinical practice. 

“Our research set out to understand why there has been a history of low reproducibility of genomic testing results between different labs when detecting cancers,” Professor Koks said.  

“Each component of the sequencing and analysis process can affect the outcome, with the result that false positives are common in diagnosing cancer.  

“We found factors such as sample and library preparation, differing sequencing technology and bioinformatic tools were affecting the reproducibility and performance of the genomic analytical techniques. 

“In essence, the challenge is to remove the “noise” to accurately detect the cancer signal.  

“All stages of mutation detection are interdependent, and this dependency is complex.  

“There is no ‘one way’ to detect cancerous tumour mutations. For example, the amount of DNA sequencing needed to detect a cancer mutation will vary based on the amount of tumour content. 

“Our research provides a new tool to improve precision medicine for cancer patients.” 

The work of this international team of scientists is ongoing, in collaboration with the US Food and Drug Administration (FDA). 

“Advanced sequencing technology now available to the Perron Institute/Murdoch University researchers in WA will be valuable as this important research continues,” Professor Koks said.