NEW YORK (GenomeWeb) – Quest Diagnostics and Inserm, the French National Institute of Health and Medical Research, have launched an initiative called BRCA Share to provide open access to genetic variant data for the BRCA1 and BRCA2 genes, and have signed on LabCorp, Quest's main competitor in the US clinical lab market, as their first participant.
The goal of the program is to accelerate research into BRCA mutations, in particular variants of uncertain significance, in order to improve variant interpretation by clinical diagnostic laboratories.
BRCA Share, which is open to additional participants, builds on a curation process for BRCA data that was developed by Inserm, Inserm Transfer, the French Unicancer Genetic Group (UGG), and associated University Hospital Centers.
It incorporates existing BRCA data from Inserm's Universal Mutation Database (UMD-BRCA1/2), curated by the Curie Institute in Paris, that was generated by 16 UGG members performing BRCA testing in France.
"Public research entities in France and around the world have been making important discoveries of BRCA variants and their role in inherited cancer thanks to over 15 years of research, and this program will build on that wealth of quality data to take BRCA testing and research to the next level of sophistication," Yves Lévy, president and CEO of Inserm, said in a statement.
BRCA Share members will contribute de-identified clinical patient data on BRCA1 and BRCA2 and will have access to each others' data. All data will be reviewed for duplicate entries and to confirm that it meets certain scientific standards.
Quest will license BRCA data, including from the UMD-BRCA1/2 database, and sublicense it to commercial labs or academic groups who commit to sharing their own BRCA data. Participating companies will pay a fee on a sliding scale according to their size, while institutions and individuals conducting BRCA research only can join at no charge.
Commercial participants will also contribute to functional studies to determine the pathogenicity of BRCA variants of unknown significance.
Members of BRCA Share will establish processes for reporting new findings, which commercial labs may use to update their clinical test reports, including prior test results that were indeterminate.
"We strongly support this initiative and believe that broader access to key UMD-BRCA1/2 database information through BRCA Share will yield significant improvements in BRCA diagnostics, and enhance patient care and treatment,” David King, chairman and chief executive officer of LabCorp, added in the statement.
BRCAShare adds to existing shared data repositories that include BRCA variant data, for example, the National Center for Biotechnology Informatin's ClinVar database, the Breast Cancer Information Core (BIC), and the Leiden Open Variant Database (LOVD).
In joining forces to support BRCAShare, Quest and LabCorp are taking on Myriad Genetics, which maintains a proprietary database with more than 1 million test results and claims to have the lowest VUS rate for BRCA testing in the industry.