Mutations of the BRCA1 and BRCA2 genes increase an individual’s risk of developing breast, ovarian and other cancers. However, many variants (or aberrations) of these genes do not elevate cancer risk. Determining which do and which do not requires the examination of mass amounts of genetic data collected on many individuals.
That’s why we at Quest Diagnostics believe that open sharing of BRCA genetic data is vital to advancing clarity in BRCA patient testing. When organizations pool their BRCA data, they are better positioned to discover new information on BRCA genes and, in turn, enhance patient testing.
In April 2015, Quest Diagnostics co-founded BRCA Share, an open BRCA datasharing initiative with Inserm, France’s National Institutes of Health. Within about a year of its founding, this groundbreaking initiative had classified 375 variants whose cancer risk was previously uncertain. It also discovered 334 potentially cancer-causing mutations.
We are pleased to announce that we are building on our commitment to open sharing of BRCA data with our first submission of BRCA data to ClinVar, an open database whose cause to improve research on cancer genetics we enthusiastically support. This is one of several submissions of de-identified BRCA data we intend to submit to ClinVar in the future.
Data sharing is a complex issue. Not all databases have the same capabilities. High quality, prospective curation of variant discoveries is essential to ensure data is clinical grade — that is, reliable enough for clinical decision making. Inserm’s team of curators researches and classifies BRCA variants before uploading them into BRCA Share.
But we also believe open BRCA databases of all kinds can help to advance BRCA research. We’re proud of our contributions to BRCA science and to helping people take actions, armed with reliable insight, to reduce their cancer risk.