What are the perceived implications of broader genomic sequencing as it pertains to interpreting variants of unknown significance and germline predisposition mutations?
Increased genomic testing is likely to increase the frequency with which we encounter these mutations, which we might not otherwise have tested for. How do you foresee addressing these issues with patients and families?
Answer from: at Community Practice
Variants of unknown significance (VUS) are constantly being revised when it comes to identifying “potentially pathogenic mutations.” We work with a molecular pathologist as well as the pathologists at Exact Sciences to understand in real time where VUSs fall in regards to their pathogeni...
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Answer from: at Community Practice
Engaging families in a discussion of genomic and or germline testing and the possible positive, negative and VUS results is critical to assisting their understanding of tumor sequencing and paired tumor-germline sequencing. Partnering with genetic counselors to ensure language is used that helps fam...
Answer from: at Academic Institution
While increased testing will certainly increase the frequency with which we identify VUS and germline predisposition mutations, doing so via biobanks and other research endeavors will, over time, help us to better understand these alterations. That said, these are complex concepts, and ones that can...