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Integrating Functional Studies into Variant Interpretation

Wednesday, July 29, 2020
3:00am PDT
1 hour
C.E.U.: 1 Category 1 Contact Hour
P.A.C.E.: 1 Unit

In this talk we will look at how DNA and RNA functional data are incorporated into an ACMG style classification system. We will look at different assays commonly encountered in the literature and evaluate their quality as well as how to appropriately weight them in variant interpretation, particularly in light of recommendations recently published by ClinGen SVI.

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Marcy Richardson
Variant Assessment Scientist, Ambry Genetics
Marcy Richardson graduated from Georgetown University with her PhD in Tumor Biology with research focused on the Wnt and Vitamin D pathways. Following a post-doctoral fellowship at the University of California, San Diego focusing on epigenetics, she began working as a Variant Assessment Scientist at Ambry Genetics in 2015. She focuses on cancer predisposition genes […]

Marcy Richardson graduated from Georgetown University with her PhD in Tumor Biology with research focused on the Wnt and Vitamin D pathways. Following a post-doctoral fellowship at the University of California, San Diego focusing on epigenetics, she began working as a Variant Assessment Scientist at Ambry Genetics in 2015. She focuses on cancer predisposition genes including BRCA1 and BRCA2, among others, and also participates in numerous ClinGen efforts including as an expert for the BRCA1/2 VCEP (ENIGMA), the Polyposis VCEP (InSiGHT) and as the coordinator of the Hereditary Breast, Ovarian and Pancreatic Cancer VCEP.

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Lindsay Lipe
Genomic Science Liaison, Ambry Genetics
Lindsay Lipe is an Oncology Genomic Science Liaison at Ambry Genetics for the Bluegrass Region. She completed her Bachelor of Science in Zoology at Michigan State University and her Master of Science in Genetic Counseling at Wayne State University. She worked as a clinical genetic counselor at the West Cancer Center in Memphis, TN prior […]

Lindsay Lipe is an Oncology Genomic Science Liaison at Ambry Genetics for the Bluegrass Region. She completed her Bachelor of Science in Zoology at Michigan State University and her Master of Science in Genetic Counseling at Wayne State University. She worked as a clinical genetic counselor at the West Cancer Center in Memphis, TN prior to starting at Ambry. 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. Lindsay is a member of the National Society of Genetic Counselors (NSGC) and is licensed as a genetic counselor by the TN Department of Health. She is board-certified by the American Board of Genetic Counseling (ABGC).