Health Informatics Laboratory

Director: Dr Jan Stanek

The project is closely related to the Human Variome Project  especially to its Australian node. Currently MAWSON is a collaboration between UniSA (ACRC) and SA Pathology; funded by Quality Use of Pathology Project (Commonwealth Dpt. of Health and Aging).

The project is focused on collection clinical data on human variomics (i.e. collecting different variants of certain genes - currently BRCA1 and BRCA2 (breast cancer related genes)) to improve the quality and efficiency of interpretation of a variant found. Such system is needed, because we still know very little about human genome - while we were able to identify genes related to some diseases, it is only some variants of these genes which are pathogenic (i.e. leading to the disease).

Assessment of an unknown variant is a tedious task, and lots of information searching may be needed to get enough solid evidence to make a good and reliable decision. This is further complicated with high stakes involved (e.g. intense prophylactic measures if a high risk pathogenic variant is found in a young woman - even mastectomy..; Now imagine the clinicians got it wrong...; On the other hand - misinterpreting a variant as OK will lead to the person falling off the radar and possibly silently developing early cancer...). Sharing this information is thus important - ideally a nation-wide collaboration should be achieved.

MAWSON project is focusing on collection of *all* variants from participating laboratories, along with local interpretation of these variants (wherever available) in a safe and flexible way. We strictly differ form the laboratory systems (i.e. we do not want to replace local databases holding all the confidential clinical data on individual patients), as well as from research locus-specific databases (we aspire to collect all variants found - wild, benign, pathogenic, unknown... , not only the "interesting" ones). We are also rather unique in our attempt to establish a semi-automatic collection of data and providing high security of the data trail from the laboratory computer up to our dedicated server.

 

Areas of study and research

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