Curating the Human Genome to Advance Early Identification of Rare Diseases

The most critical challenge to making newborn sequencing a reality is genomic variant interpretation at scale. Current approaches of interpreting variants one-by-one are impractical when it comes to screening a mostly healthy newborn population with whole genome sequencing. A radically different approach is needed to hit the time, cost, and throughput objectives for newborn screening of whole genomes.

In this live discussion and demonstration, industry experts show how a comprehensive, pre-curated list of causative variants can be used to rapidly screen for rare diseases and how a unique combination of AI-driven genomic technology and expert scientific review has emerged as the best and most viable way to curate the entire human genome.

The speakers describe Genomenon’s contributions to the BeginNGS™ initiative at the Rady Children’s Institute for Genomic Medicine, and how pre-curated classifications for every variant found in the scientific literature will be used to screen against over 450 genetic diseases at birth. They will then show how variant classification and supporting evidence is presented in the Mastermind^® Genomic Search Engine to enable rapid assessment and identification of newborns at risk for developing a rare disease.

The session includes a Q&A session around the implications of this technology on the future of rare disease screening and diagnosis.

You will learn:

• How a unique balance of AI and expert review creates a solid foundation of high-quality evidence to understand the genetic basis of a targeted disease
• How the integration of data from the scientific literature with commonly used variant databases like ClinVar streamline accurate and timely diagnoses for patients
• How this approach is being used to comprehensively access and classify every variant in the human genome, starting with newborn sequencing applications