Professor of Pathology Massachusetts General Hospital and Broad Institute of MIT and Harvard Boston, Massachusetts, United States
Session Description: This plenary session delves into the world of structured, high-quality knowledge bases that underpin the classification and actionability assessment of genomic variations. Focusing on two distinguished clinical grade knowledge bases—OncoKB for somatic variants and ClinGen for germline variations—this session explores the processes of expert curation, consensus building, and change control. Both OncoKB and ClinGen have gained FDA recognition as public human variant databases, establishing their pivotal roles in advancing precision medicine and patient care.
If this session topic is of interest to you, please consider looking at the following course on AMP EDucation (AMPED™ Online)
Title: Somatic variant curation using OncoKB, an FDA-recognized precision oncology knowledge base Click here to learn more.
Learning Objectives:
Upon completion, participants will be able to comprehend the methodologies of expert curation and become familiar with how knowledge bases are structured.
Upon completion, participants will gain insights into the standards and global collaborations that contribute to accurate genomic interpretation and recognize the challenges in developing and maintaining clinical grade knowledge bases.
Upon completion, participants will be able to understand the rationale for sharing genomic and health data to improve patient care, appreciate the standards and approaches used to enhance genomic interpretation accuracy, and locate resources that facilitate improved genomic testing and interpretation of results.