Megan Frone and Jessica Hatton Received 2024 ClinGen Significant Contributor Awards
, by Jennifer K. Loukissas, M.P.P.
Genetic Counselors Megan Frone and Jessica Hatton
Genetic counselors in the Clinical Genetics Branch, Megan Frone, M.S., C.G.C., and Jessica Hatton, M.S., C.G.C., were recognized with 2024 Significant Contributor Awards by ClinGen, a National Institutes of Health-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.
Both participate on multiple Variant Curation Expert Panels (VCEP), which are tasked with reworking the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines for variant classification to be more specific and optimized for the gene(s) within their scope and then work to comprehensively curate and deposit variants into the ClinVar database. Each VCEP includes dozens of researchers, clinicians, genetic counselors, laboratory scientists, and variant biocurators from around the world. This VCEP process and ClinVar database are FDA-recognized.
Ms. Frone is the coordinator of the TP53 VCEP and a biocurator for the DICER1 and miRNA-Processing VCEP; her award noted:
“Megan is a highly competent and thoughtful coordinator of the TP53 VCEP which classifies variants for one of the most studied genes in cancer. She skillfully handles many requests from the caner community and has recently guided the VCEP through a major update of their specifications.”
Ms. Hatton is the coordinator of the DICER1 and miRNA-Processing VCEP and a biocurator for the TP53 and NF1/SWN VCEPs; her award noted:
“Jessica Hatton has been an amazing contributor to the NF1/SWN VCEP. She participates in our leadership group, serves as an active member, and biocurates. In these roles she has helped develop rules, and has tested these rules on nominated variants.”
Additionally, the TP53 VCEP Specifications came in 3rd place for the most high-cited ClinGen Expert Panel publications category.