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ClinGen Expert Panel Curation

Thursday, February 10, 2022
3:00am PST
1 hour
C.E.U.: 1 Category 1 Contact Hour
P.A.C.E.: 1 Unit

The Clinical Genome (ClinGen) Resource is a National Institutes of Health (NIH)-funded consortium dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research. To accomplish this goal, ClinGen develops teams of experts in different clinical domains to evaluate the clinical validity of gene-disease relationships and pathogenicity of individual genetic variants. Gene Curation Expert Panels implement an approved process of evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease. Variant Curation Expert Panels develop gene and disease specifications to the 2015 ACMG/AMP guideline, classify variants using these specifications, and deposit their classifications into NCBI’s ClinVar database.

Level of Instruction: Intermediate

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Steven Harrison
Laboratory Director, Ambry Genetics
Steven Harrison, PhD, FACMG, is a board-certified molecular geneticist working as a Laboratory Director at Ambry Genetics. His work focuses on variant classification approaches and standardization at both a CLIA-certified molecular diagnostic laboratory and as part of the NIH-funded Clinical Genome Resource (ClinGen) program. Within ClinGen, Steven co-chairs the Sequence Variant Interpretation Working Group, which […]

Steven Harrison, PhD, FACMG, is a board-certified molecular geneticist working as a Laboratory Director at Ambry Genetics. His work focuses on variant interpretation approaches and standardization at both a molecular diagnostic laboratory and as part of the NIH-funded Clinical Genome Resource (ClinGen) program. Within ClinGen, Steven co-chairs the Sequence Variant Interpretation Working Group, which aims to develop general recommendations to the ACMG-AMP variant interpretation guidelines. He completed his PhD in Genetics in 2014 at the University of Texas Southwestern Medical Center and completed his ABMGG Clinical Molecular Genetics and Genomics fellowship in 2018 at Harvard Medical School.

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Jessica Laprise
Genomic Science Liaison, Ambry Genetics
Jessica Laprise joined Ambry in 2020 as the Oncology Genomic Science Liaison for the New England Region based in Connecticut. In her current role she serves as Manager of the Genomic Science Liaisons Team in the East for Oncology and Reproductive Health. Jessica graduated with her master’s degree in Genetic Counseling from Arcadia University. Prior […]

Jessica Laprise joined Ambry in 2020 as the Oncology Genomic Science Liaison for the New England Region. In her current role she serves as a clinical liaison for the field team to educate health care providers and key opinion leaders on genetic testing and genomic medicine. Jessica previously worked as a clinical cancer genetic counselor at The Cancer Genetics and Prevention Program at Women and Infants Hospital/Warren Alpert School of Medicine, Brown University in Providence, Rhode Island for over 15 years. She has been actively involved with clinical research with multiple national presentations and numerous peer-reviewed publications.  Jessica has worked closely with the National Society of Breast Centers (NCoBC) serving as the Co-chair for their annual genetics pre-conference for multiple years and contributed to the development of the organization’s Cancer Genetics and Risk Certification Program.  She is a member of the National Society of Genetic Counselors Access and Service Delivery Committee and is particularly passionate about increasing patient access to genetics services and provider education.