While the "Jolie effect" has refocused attention on the central role of BRCA gene analyses in the diagnosis and prevention of hereditary breast and ovarian cancer, there is a global disparity in access to affordable testing. The development of bench top NGS technologies holds promise for faster, more comprehensive and cost-effective methodologies than Sanger sequencing.

The goal of the study was to create a global consortium for developing and demonstrating the feasibility of a shared, dedicated workflow that may develop into a clinical grade BRCA gene analyses using Ion AmpliSeq^TM multiplex PCR technology combined with the Ion PGM^TM Sequencer.