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

Mark co-founded Genomenon in 2014 to close the evidence gap in rare disease and cancer. He holds an MD/PhD in Clinical Pathology from the University of Michigan and leads the company's scientific direction.

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

The Real-world Evidence to validate a drug target, identify trial-eligible patients, or change a diagnosis already exists. It is buried in 39 million biomedical articles, locked behind paywalls and supplemental files most researchers never find.

Genomenon closes that gap. Fit-for-purpose AI-powered search reads 11.2 million full-text papers and 3.7 million supplemental datasets. Eighty expert scientific curators validate every finding. The result is structured, traceable, regulatory-grade Real-World Evidence at the genetic variant and patient level. Loxo@Lilly used Genomenon to add 73 variants to the RET label. In a head-to-head, Genomenon identified 83% more rare disease patients than ChatGPT plus OpenEvidence.

250+ diagnostic labs and 75 biopharma programs rely on Genomenon as the evidence layer behind precision medicine.

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  • Rare disease and precision oncology programs rely on evidence fragmented across millions of published articles and supplemental datasets.
  • Genomenon builds the custom real-world evidence your program needs.
  • AI-powered search. Expert scientific curation.
  • The result: a broader label, more eligible patients, and a regulatory filing your team can defend.
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