Our “Processing Hereditary Cancer Panels in VarSeq” webcast was a great lesson for viewers to learn more about the functionality of our software. If you didn’t have a chance to join us for the live event, you can watch the recording on our site here.

Q: What is the best place to get clinical interpretations of breast cancer variant interpretations?

A: ClinVar has benefited from a number of efforts to reduce the monopoly on BRCA1/BRCA2 interpretation that Myriad has held with its long-standing patent on the genes that was struck down in 2013. ClinVar has nearly 400K unique variants now with over 15,000 in BRCA1/2. So the future of democratized testing of BRCA1/2 is here, and ClinVar is a fantastic resource that continues to get better as more labs submit their variants and interpretations to it.

Q: How do you interpret a novel variant with no previous clinical interpretations if it has good in-silico predictions.

A: Ultimately, to report a variant as pathogenic for hereditary cancer or really any single-gene disorder, you want strong functional and clinical evidence that the mutation is causal for the disorder. Individual labs may not have the resources to do the necessary research on the functional and will end up with a VUS classification. There are companies that do functional assays as a service for most of these genes, but one of the best things you can do is just get the variant submitted to ClinVar and then check back as more labs corroborate information on other patients and their clinical presentation. Over time more variants will have interpretations.

Q: Can multiple people be involved in the interpretation?

A: Yes, VarSeq is a user-based product and so all actions will have the name of the user that performed them. Although you can’t have two users opening a project at the same time, VSClinical does support multiple users contributing to the interpretation. You can actually see in the log section which user answered each criteria question or finalized the variant etc. We even have a special “blinded interpretation” mode so users can make their own interpretation without seeing the finalized result of their coworker.

Our entire webcast series can be found on the Golden Helix website here. To receive invites to future webcasts, you can sign up for our mailing list here or by emailing [email protected].