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The Use of MAVES in Genetic Testing

Wednesday, March 5, 2025
3:00am PST
1 hour
C.E.U.: 1 Category 1 Contact Hour
P.A.C.E.: 1 Unit

Clinical classification is needed for thousands of variants of uncertain significance (VUS) in cancer predisposition genes. Multiplex assay of variant effect (MAVE), often involving saturation genome editing through CRISPR/cas9 or base editing methods, is a useful method for assessing in parallel the functional impact of thousands of variants on protein activity or cellular phenotypes. These results can subsequently be used in ClinGen/ACMG/AMP models for clinial classification of many of these variants. Here we use recently published MAVE studies of BRCA2 to show how MAVE results can be used for classification of large numbers of variants in predisposition genes.

Level of Instruction: Advanced

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Fergus Couch
Professor of Medical Research, Chair of the Division of Experimental Pathology and Laboratory Medicine at the Mayo Clinic
Fergus Couch is the Zbigniew and Anna M. Scheller Professor of Medical Research and Chair of the Division of Experimental Pathology and Laboratory Medicine at the Mayo Clinic. Dr. Couch has over 650 publications with an H-index of 132 relating primarily to the clinical characterization of inherited genetic variants in cancer susceptibility genes. He is […]
Fergus Couch is the Zbigniew and Anna M. Scheller Professor of Medical Research and Chair of the Division of Experimental Pathology and Laboratory Medicine at the Mayo Clinic. Dr. Couch has over 650 publications with an H-index of 132 relating primarily to the clinical characterization of inherited genetic variants in cancer susceptibility genes. He is the director of the Mayo Clinic Breast Cancer Registry and a founder and contributor to the CIMBA and BCAC consortia that have identified common genetic variants associated with breast cancer risk and developed polygenic risk scores for breast cancer risk assessment. He is the founder of the CARRIERS study that established population-based risks of breast cancer for variants in cancer predisposition genes. He is also a co-founder of the ENIGMA consortium and has focused on the use of functional studies for classification of variants of uncertain significance (VUS) in cancer predisposition genes including recent large CRISPR/cas9 saturation genome editing studies. He is also the co-leader of the NIH/ClinGen Hereditary Breast, Ovarian and Pancreatic (HBOP) cancer variant curation expert panel (VCEP) for cancer predisposition genes. He holds several grants, including an R35 outstanding investigator award from the National Cancer Institute, and has received a number of awards in recognition of his work including the Mayo Clinic Distinguished Investigator Award, the AACR Outstanding Investigator Award for Breast Cancer Research, and the Basser Global Prize.
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Caitlin Reid
Genomic Science Liaison at Ambry Genetics
Caitlin Reid, CGC, is a certified Genetic Counselor and Genomic Science Liaison at Ambry Genetics. 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. Caitlin previously worked as an Oncology Genetic Counselor at the University of Iowa in the […]
Caitlin joined Ambry Genetics in 2021 as the Oncology Genomic Science Liaison for the Midwest territory. 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. Caitlin previously worked as an Oncology Genetic Counselor at the University of Iowa in the Holden Comprehensive Cancer center. Caitlin received her Bachelor of Science degree in Biology with a concentration in cell and developmental biology from the University of Iowa. She earned her Master of Science degree in Genetic Counseling from the University of Michigan in 2018 and is certified by the American Board of Genetic Counseling.