Graeme Suthers and Jan Stanek
Working with the clinical genetics section of the WCH.
The goal of this research is to improve the quality, and thus preventive care value, of genetic testing services through innovative technology to integrate testing labs with one another and with the expertise of clinical geneticists. A number of Internet-based databases now complement journals as resources to support genetic test interpretation; however, the use and completeness of these resources is haphazard. We have developed a prototype for a secure web-based gene-specific test results repository, supporting systematic collection and quality assurance of genetic testing data for a genetic testing community (our first target community is Australian labs testing the BRCA1-2 breast cancer genes). The approach aims to improve accuracy of interpretation and thoroughness of test documentation, and to facilitate the contribution of local test results to global genetic variation knowledge.