2021 ACMG Annual Clinical Genetics Meeting - Product Theaters-Defining a New Clinical Standard: Updates on Potential Applications of Genome Sequencing

Defining a New Clinical Standard: Updates on Potential Applications of Genome Sequencing

Video Transcription

Video Summary

In this video, Madhuri Hegde discusses the use of whole genome sequencing as a clinical standard. Perkin-Helmer Genomics has been utilizing whole genome sequencing alongside other methodologies such as gene panels and exome sequencing for the past three years. Hegde argues that whole genome sequencing is close to becoming a standard for clinical care. She provides an overview of the timeline of sequencing, from southern blots to next generation sequencing technologies. Perkin-Helmer Genomics uses a NOVA-66000 sequencer from Illumina along with Perkin-Helmer equipment for DNA extraction, sample quality control, library preparation, and sequencing. They have developed their own software analysis program called ODIN for variant annotation and interpretation. Hegde explains the advantages of whole genome sequencing over exome sequencing, including its ability to detect variants in non-coding regions, improved coverage of GC-rich regions, and enhanced detection of copy number variations and short tandem repeats. She presents several case examples to illustrate the clinical utility of whole genome sequencing, such as detecting missed variants, resolving complex variants, and replacing microarray analysis with copy number genome sequencing.

Asset Subtitle

PerkinElmer Genomics

Keywords

whole genome sequencing

clinical standard

Perkin-Helmer Genomics

exome sequencing

copy number variations

short tandem repeats

microarray analysis