Collaborator: Quest Diagnostics

• Piloting the forthcoming ACMG/AMP/CAP/ClinGen standards for sequence variant classification

  April 2, 2026

• Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level

• Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder

• Systematic evidence review and meta-analysis of outcomes associated with cancer genetic counseling

• Recommendations for Risk Allele Evidence Curation, Classification, and Reporting from the ClinGen Low Penetrance/Risk Allele Working Group

• Always better when we’re together: A novel, collaborative multi-stakeholder coalition enhances national guidelines for hereditary cancer testing and detection

  Take home points: Clinical guidelines must evolve along with ongoing research findings. To assist this, the Inter-Organization Cancer Genetics Clinical Evidence Coalition (INTERACT) was established in 2020 among leading laboratory, industry, and patient groups. To date, INTERACT has submitted 12 letters to NCCN guidelines committees requesting changes, and has had 12 requested changes approved. INTERACT has impacted NCCN testing guidelines…

  April 2, 2026

• The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change