JAMA Network | Rebecca Voelker, MSJ | March 20, 2019
The Problem
Testing for BRCA1 and BRCA2 mutations identifies both benign and pathogenic genetic variants. But information about specific variants, particularly those of uncertain clinical significance (VUS), often isn’t systematically curated, expertly reviewed, or easily searchable. In addition, different laboratories sometimes interpret test results differently.
Downstream Risk
Some patients whose variants don’t have a clear clinical meaning might seek or receive unnecessary care.
Statistically Speaking
About 3% of BRCA1 and BRCA2 findings on genetic tests are VUS. An estimated 15% to 20% of them are likely to be disease causing. As more people undergo genetic testing, clinicians will continue to see VUS.