2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Customization and Implementation of a Tertiary Analysis Platform for Interpretation and Reporting of Germline Variants

Customization and Implementation of a Tertiary Analysis Platform for Interpretation and Reporting of Germline Variants

Pdf Summary

This document describes the customization and implementation of a tertiary analysis platform called eMedGene for the interpretation and reporting of germline variants. The platform utilizes artificial intelligence and is used for the analysis of whole exome sequencing (WES) and whole genome sequencing (WGS) tests for inherited and rare diseases. The validation of eMedGene was performed using data from 20 clinical cases. Application programming interfaces (APIs) were developed to transfer patient demographics and case-specific information between the laboratory information management system (LIMS) and the eMedGene system. The platform allows for flexibility in data input, integration of laboratory databases, and updates to be implemented according to the lab's discretion. Customized case labels, variant analysis tags, and case statuses can be modified to track case progress. Report templates can be fully customized to meet laboratory needs and regulatory requirements. The eMedGene platform demonstrated 100% accuracy, sensitivity, and specificity compared to previous tertiary analysis workflows. The implementation of eMedGene increased the efficiency of data analysis and reporting. Challenges encountered during the customization and implementation process included integrating different software systems, selecting appropriate preset parameters, determining validation cases, designing reports, and understanding the laboratory's customization needs. Overall, this validation shows the successful implementation of the eMedGene platform for clinical WES/WGS data analysis and reporting.

Asset Subtitle

Presenting Author - Rebecca C. Tyler, BS, MB(ASCP)CM; Co-Author - Qian Nie, PhD; Co-Author - Tessa Gonzalez, BS; Co-Author - Kala Schilter, PhD; Co-Author - Dana Batchelor, BS; Co-Author - Kathryn Stoll, HT(ASCP); Co-Author - Honey V. Reddi, PhD;

Meta Tag

Genetic Testing

Variant Detection

Co-Author Qian Nie, PhD

Co-Author Tessa Gonzalez, BS

Co-Author Kala Schilter, PhD

Co-Author Dana Batchelor, BS

Co-Author Kathryn Stoll, HT(ASCP)

Co-Author Honey V. Reddi, PhD

Presenting Author Rebecca C. Tyler, BS, MB(ASCP)CM

Keywords

eMedGene

tertiary analysis platform

customization

implementation

interpretation

reporting

germline variants

artificial intelligence

whole exome sequencing

whole genome sequencing