Meet Genomenon at ASHG 2024 | November 5-9

The Genomenon team is looking forward to seeing many of you in Denver, Colorado for the ASHG 2024 Annual Meeting. We have a number of activities during the conference to meet with friends and partners and share more about how we combine our AI and team of experts to deliver the best of genomic intelligence.

Visit Booth #757 for a live demonstration of Mastermind and meet our team of experts.
Schedule a demo at ASHG

Co-Lab Session

Thursday, November 7, 2024, 9:45am - 10:15am, Co-Lab Theater 1
Interpretation of ACMG Secondary Findings Genes - Incorporation into Clinical Diagnostic Workflows

Advances in genomic testing have transformed medical genetics, revealing insights into various diseases. Whole genome and exome sequencing are increasingly used in clinical settings, necessitating the interpretation of genetic variants with potential clinical implications.

The American College of Medical Genetics and Genomics (ACMG) established guidelines for managing secondary findings, impacting patients, families, and laboratories. These recommendations include a curated list of actionable genes for diagnostic reports. Genomenon recently completed a comprehensive curation of ACMG Secondary Findings genes, empowering labs to support informed clinical decisions and to automate the incorporation of these findings into workflows.

Join us to hear our discussion on ACMG secondary findings guidelines, best practices for implementation, and the critical role of curated evidence in diagnostic results and patient outcomes.

Dr. Mark Kiel

Genomenon Founder and CSO

Jeffrey Bissonnette

Senior Director of Genomic Curation

Scientific Posters

Development of a novel gene-disease relationship classification framework and comparison to existing ClinGen standard.

Wednesday, November 6, 2024, 2:30PM - 4:30PM

Exhibit & Poster Hall, Hall F / Poster number 1058W


Presenting Author: Mark J. Kiel, MD, PhD

Variant classification is impacted by the presence of biochemical data in published patient reports: A case study for Familial Hypercholesterolemia.

Thursday, November 7, 2024, 2:30PM - 4:30PM

Exhibit & Poster Hall, Hall F / Poster number: 3075TFirst

Presenting Author:: Jeffrey Bissonnette, MSC, CGC