ClinGen Expert Panel Curation with Steven Harrison, PhD, FACMG

• 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

  

  Only the live session qualifies for CEUs but when possible, we host the recordings on our website and NSGC recommends participants to use their personal email instead of work email addresses to ensure they receive their CEU certificates.

  

  Ambry Genetics is approved as a provider for continuing education program by NSGC and ASCLS P.A.C.E ® Program.

Steven Harrison, PhD, FACMG | Presenter

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 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.

Jessica Laprise, MS, CGC | Moderator

Genomic Science Liaison, Ambry Genetics

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.