GMDx Co Clinical Trial Summary


A study to measure the Targeted Somatic Mutation (TSM) test platform performance characteristics and evaluate its suitability for clinical use.

This is a study to validate a new genomic testing platform for direct monitoring of mutation status among healthy individuals. This has been done by identifying the frequency of variants known to be associated with TSM activity. Saliva and Blood samples have been taken for each volunteer.

The variants identified include mutations associated with the deaminase activity of AID, APOBEC3G, APOBEC3B and ADAR1. Using a cross-sectional design, this study aimed to use a small healthy volunteer cohort to validate the test platform among samples by age and sex.


Background summary – Over 350 million people are infected with the hepatitis B virus (HBV) worldwide, with more than 150,000 chronically infected in Australia. Nucleos(t)ide analogue (NA) therapy is effective at maintaining viral control, but duration of treatment is uncertain in hepatitis B e antigen (HBeAg) negative disease.

This is a prospective translational study of the determinants of sustained remission following discontinuation of NA therapy in a cohort of chronic hepatitis B patients who have achieved complete virological suppression for > 3 years’ duration. Our results will have a direct impact on clinical practice by allowing safe and effective individualization of long-term NA treatment strategies.

The TSM platform is being used to provide SHM-like profiles of participants at multiple time points after treatment has stopped.

The individual differences in the SHM-like responses will be correlated with changes in virus titres and HBV surface antigen levels to compare those that ‘recover’, with those patients that ‘flare’ (relapse).  


Clinical Trial Title – SHM-like Profiling as a Novel Genomic Bowel Screening Assay

The aim of this Clinical Trial is to use the Targeted Somatic Mutation (TSM) profile to differentiate between the cohort of patients presenting with ‘vague’ symptoms of colorectal disease that need to undergo further exploratory investigation, from those that do not. In the future, it may be possible to use genomic SHM-like profiling to reduce the long list of patients waiting to undergo exploratory investigation.

For each patient a saliva DNA sample, apparently normal cells, and abnormal cell tissue (when present) are to be collected at the time of the medical investigation. Whole exome sequence data will be performed for each sample  to facilitate comparison among the different phenotypic outcomes of those patients clinical investigation.