Work

P670: A collaborative model integrating clinical genetics and molecular pathology for tumor/normal paired whole exome sequencing testing

Year: 2024

Type: article

Abstract: Tumor/Normal paired whole exome sequencing (T/N-WES) testing permits the identification of actionable somatic variants for therapeutic decision-making, in addition to clinically significant germline variants. The identification of germline pathogenic/likely pathogenic (P/LP) variants associated with heritable conditions enables the development of a systematic management plan for the patient as well as cascade testing of at-risk relatives. However, limited resources in molecular labs specialized in the detection of somatic variants, including clinical data and personnel trained in clinical genetics, can impede germline variant curation and implementation of a comprehensive care plan.

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2024.101574