2021 ACMG Annual Clinical Genetics Meeting - Product Theaters-Interpret NGS Data Automatically to Provide Life-changing Answers for Rare Disease Patients with the Greatest Speed, Accuracy and Confidence

Interpret NGS Data Automatically to Provide Life-changing Answers for Rare Disease Patients with the Greatest Speed, Accuracy and Confidence

Back to course

Video Transcription

Video Summary

In this video, Helen Savage, Congenica's lead clinical scientist for product innovation, discusses the importance of automating the interpretation of complex next-generation sequencing (NGS) data for rare disease reporting. She highlights the growing demand for genetic testing and the need for automation to handle the increasing complexity of cases. Automation can reduce analysis time and improve patient care by providing faster diagnoses and personalized medicine options. Savage introduces Congenica's automation solutions, including Congenica Express and automated ACMG (American College of Medical Genetics and Genomics) criteria selection. She explains how these solutions can streamline NGS workflows, interpret variants, and generate comprehensive reports. Savage provides a case study demonstrating the utility of Congenica's automation system in identifying genetic diseases quickly. She also discusses the future of automation in genetic testing, including applications in carrier screening, pharmacogenomics, and population health reporting. The video concludes with information on how laboratories can incorporate Congenica's automation solutions into their workflows.

Asset Subtitle

Congenica Ltd.

Keywords

automating interpretation

complex next-generation sequencing data

rare disease reporting

genetic testing

automation solutions

NGS workflows