ASHG 2024 CoLab | Interpretation of ACMG Secondary Findings Genes - Incorporation into Clinical Diagnostic Workflows

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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.

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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.

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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.