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what-process-determines-that-my-variant-is-pathogenic-vus-or-benign.md

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What process determines that my variant is pathogenic, VUS, or benign?

The process of determining the clinical significance of a variant is a little bit different, depending on testing companies. However, the basic steps are as follows:

  1. Obtain your DNA
  2. Sequence your genome
  3. Determine what variants you have in the BRCA-1 and BRCA-2 genes
  4. Use a combination of biological knowledge and statistics to determine what risk is associated with your variants

Significance is a term we usually associate with "importance," but it also a term used in statistics. Thus, when the "Clinical Significance" of a variant is mentioned, this is both a measure of importance to your cancer risk, as well as statistical likelihoods. BRCA Exchange, which collects information on BRCA-1 and BRCA-2 variants from as many sources as possible, relies on a statistical classification method called the {ENGIMA BRCA 1/2 Classification Criteria}. This is an expertly crafted assessment method, designed specifically for the BRCA-1 and BRCA-2 genes.

[note: separating classification from definitions of path/benign/VUS helps simplify this section a lot]