An inconclusive genetic test result: what does it mean?

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An inconclusive genetic test result is called a VUS, for genetic variant of unknown significance

Genetic test results are either positive, negative, or less commonly, VUS. This stands for genetic variant of unknown significance.

Most results of genetic testing for inherited susceptibility for cancer are either negative (meaning no gene mutation or change was found) or positive (meaning a gene mutation that causes an increased risk for cancer was found). However, a small portion of tests result in an inconcolusive genetic test result, or what is termed a variant of unknown or uncertain significance, or VUS.

A VUS is a change in the normal sequence of a gene, where the significance of the change is unclear until further study of a sufficiently large population. Complete gene sequencing often identifies many variants for a given gene. Continue reading