2021 ACMG Annual Clinical Genetics Meeting - Product Theaters-Revolutionizing Time-Sensitive Diagnostics for Young Patients

Video Transcription

Video Summary

In this video, Peter Bauer, Chief Genomic Officer at CentroGene, discusses the importance of time-sensitive diagnostics for young patients. He emphasizes the high burden and need for a diagnosis in this patient population, as a significant percentage of newborns have genetic disorders or major birth defects. However, many babies and newborns are underdiagnosed without specific genetic testing, leading to a lack of appropriate attention and therapeutic options. Bauer explains that exome and genome sequencing are the two main technologies used in rare genetic diseases. Exome sequencing covers known protein coding regions and is cost-efficient, while genome sequencing provides a more comprehensive dataset, including non-coding regions and copy number variations. Bauer highlights the diagnostic success achieved through these sequencing methods and their impact on treatment and specialist referrals. He also discusses the role of sequencing in research collaborations, leading to the discovery of new disease genes and insights into pathways. Overall, Bauer emphasizes the need for high-quality and timely genetic testing to improve outcomes for young patients with genetic disorders.

Asset Subtitle

Centogene

Keywords

time-sensitive diagnostics

young patients

genetic disorders

major birth defects

exome sequencing

genome sequencing