Variant Interpretation at Scale: Unlocking the Full Potential of Newborn Sequencing | ACMG 2023

Fulfilling the promise of sequencing to screen for consequential genetic diseases of infancy requires complete and accurate genetic variant evidence to inform accurate diagnostic decisions. In this talk, Dr. Mark Kiel discusses some of the challenges of scaling the curation of the evidence for published variants, interpreting the clinical significance of these variants, ensuring the utmost accuracy of these designations, and providing the necessary platform to disseminate this information to practitioners. Drawing from examples of specific diseases, he walks through how Genomenon is addressing these needs through their effort to rapidly curate the entire human genome, and how this work is supporting NGS for NBS programs like Rady Children’s Institute for Genomic Medicine’s BeginNGS and the CDC’s ED3N.

Genomenon's Founder and Chief Scientific Officer, Dr. Mark Kiel presents at ACMG 2023: Variant Interpretation at Scale: Unlocking the Full Potential of Newborn Sequencing.