Interpret and provide results

To a non-geneticist, genomic test reports can seem overwhelmingly complex and full of jargon. Depending on the service provider, reports will provide an interpretation of the results and the specifics of any gene variant/s identified. Reports can also contain a detailed description of the variant and the evidence (or lack thereof) that supports variant classification.

Germline variants are classified according to a scheme from the American College of Medical Genetics and Genomics (ACMG). Some service providers further sub-classify the variants of uncertain significance (VUS/VOUS) as 3a, 3b or 3c, depending on whether the evidence tends towards pathogenic or benign.