MedicalResearch.com Interview with:
Amanda Toland, PhD,
Cancer biology and genetics researcher of
The Ohio State University Comprehensive Cancer Center — Arthur G. James Cancer Hospital and Richard J. Solove Research Institute
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: The Breast Information Core (or BIC) is a database that catalogs BRCA1 and BRCA2 sequenced variants. The BIC is hosted by the National Human Genome Research Institute at NIH and has a steering committee that oversees the BIC and has members from Europe, the middle East, Australia and the US. In BIC SC discussions, we learned that there are differences in how BRCA1/2 clinical is testing between countries.
To characterize this variation, we performed an international survey of 86 genetic testing labs from around the world.
Our main findings are that there were many variations between testing laboratories. These include: technologies differed for finding “large” genetic sequence variants, what parts of the genes were assessed, how genetic variants were classified as disease associated or not being associated with diseases, if genetic sequencing information was shared in public databases and testing volume.