Pathology implements Next Generation Sequencing (NGS) testing 

The Department of Genetics and Molecular Pathology at Monash Health Pathology has commenced its much-awaited genomic program by implementing Next Generation Sequencing (NGS) testing.  

To this point, we have been undertaking a single gene assay (investigative procedure) where the presence or absence of one mutation could be detected. Often clinicians would then need to ask for more tests to find the appropriate treatment regime.  

With the NGS assays, we can assess multiple genes in one go. Currently, we are looking at 15 genes at a time, and we are in the process of validating larger assays which evaluate close to 50 genes in one test. 

In the first phase of implementation of this service, the assays are being introduced within the cancer landscape, aiding detection of different types of mutations, better selection of expensive targeted therapies and accurate guide to chemotherapy.  

The program had immediate success, in the first run of samples, when an uncommon mutation in a patient with melanoma was detected, opening up more opportunities for targeted treatment. This would not have been possible with the conventional platforms used for testing in the past. 

The second phase will include implementation of tests in rare genetic disorders and familial conditions, thus assisting in avoiding adverse fetal outcomes, mortality and lifelong morbidity. 

These assays will improve the quality and range of care we offer to a large cohort of patients within our catchment area. 

Successful implementation of the NGS platform has required a high level of technical expertise and well-coordinated teamwork by the medical and scientific staff within Monash Health Pathology. Our congratulations to the team. 

All along we have been doing a single gene assay where the presence or absence of one mutation could be detected.  Often the clinicians would get back asking for more tests to find the appropriate treatment regime. This would delay treatment. 

With the NGS assays, we can assess multiple genes in one go, at the moment we are looking at 15 genes and we are in the process of validating larger assays evaluating close to 50 genes in one test.  

Other organisations like Peter Mac, Austin and St V’s have implemented the NGS assays a while ago. We were lagging behind due to various reasons but we have made rapid progress over the last 6 months. 

The oncologists at Monash Health are very happy with this development. 

Approved by Karen Lowe



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