Genomic Interpretation

SimulConsult can help with the clinical correlation for genomic testing.  After uploading an annotated variant table (an image of an anonymized excerpt is shown below), a Genotype tab appears, listing the abnormal genetic results that have known associations to disease.  These “gene zygosities” are ranked by pertinence to the clinical situation, a property that points to the pathogenic genes.  Here, the VLDLR gene has 100% of the pertinence (green shading), corresponding to the disease VLDLR-related cerebellar ataxia (blue shading on the left).

Highlighting a gene zygosity makes available a button to show a mini variant table with the relevant gene variants (right, near the top of the image of the software), including many key details, such as whether the variant is too common to account for the known frequency of the disease.

A geneticist can analyze genomic results in minutes and use the Report components to document the evidence for the clinical correlation as part of the return of results to the patient.