Implementation of a Customized Tertiary Analysis Platform for the Reporting of Somatic Variants

Kala F Schilter; Sarah Dubay; Matt Stachowiak; Alysia Kaplan; Abby Stauffenger; Honey V Reddi

doi:10.1177/11772719231178618

Implementation of a Customized Tertiary Analysis Platform for the Reporting of Somatic Variants

Biomark Insights. 2023 Jun 2:18:11772719231178618. doi: 10.1177/11772719231178618. eCollection 2023.

Authors

Kala F Schilter¹, Sarah Dubay², Matt Stachowiak², Alysia Kaplan², Abby Stauffenger², Honey V Reddi¹

Affiliations

¹ Precision Medicine Laboratory, Department of Pathology, Medical College of Wisconsin, Milwaukee, WI, USA.
² GenomOncology, Cleveland, OH, USA.

Abstract

Precision medicine for oncology requires the evaluation of variants identified in molecular profiling of solid tumors and hematologic malignancies. This includes evaluation of pre-analytical and postanalytical quality metrics, variant interpretation, classification, and tiering as outlined in established guidelines, association with clinical significance such as FDA approved drugs and clinical trials, and finally comprehensive reporting. This study documents our experience with the customization and implementation of a software platform that facilitates these requirements for effective reporting of somatic variants.

Keywords: Somatic variant interpretation; software platforms; tertiary analysis.