ASHG 2024 CoLab | 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.

Complete the form below to watch our discussion on ACMG secondary findings guidelines, best practices for implementation, and the critical role of curated evidence in diagnostic results and patient outcomes.

Speaker
Mark J. Kiel, MD, PhD
Chief Scientific Officer & Co-Founder


Dr. Mark Kiel is the co-founder and chief scientific officer at Genomenon, where he oversees the company's scientific direction and product development. Mark received his MD/PhD in Clinical Pathology at the University of Michigan. He founded Genomenon to address the challenge of connecting researchers with evidence in the literature to help diagnose and treat patients with rare genetic diseases and cancer.

Speaker
Jeffrey Bissonnette
Senior Director of Genomic Curation

With a background in genetic counseling, Jeffrey brings over a decade of experience in clinical genetics, variant interpretation, and software tools for variant analysis.

Genomenon

Genomenon is a real-world evidence and genomic intelligence company that partners with pharmaceutical organizations to accelerate drug development in rare disease and precision oncology. By transforming biomedical literature into structured, evidence-based real-world evidence, Genomenon strengthens disease understanding, informs clinical trial design, and supports regulatory and label expansion strategies. Genomenon empowers pharma teams with high-confidence, literature-derived insights that drive smarter, data-driven decisions across the drug development lifecycle.

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