Collaborator: GeneDx

• 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

• SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

• Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

• Genotype-phenotype correlation at codon 1740 of SETD2

• PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

• Functional and clinical characterization of variants of uncertain significance identifies a hotspot for inactivating missense variants in RAD51C

• Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

• De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

• Germline Genetic Testing After Cancer Diagnosis

• Congenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome