From Bench to Clinical Report: Translation of CRISPR MAVEs to Improve Positive Yield of Genetic Testing with Carrie Horton, MS, CGC

• Results from functional assays can be used as evidence to inform variant classification. Historically, functional assays were built around specific variants of interest and generated relatively small-scale data. Advances in genomic technology, including CRISPR-Cas9, have allowed for the development of Multiplex Assays of Variant Effect (MAVEs). In this webinar, we will discuss how MAVEs can assess a large number of variants in a single experiment, review recommendations for using MAVE data for variant interpretation, and review recent studies that apply high-throughput functional evidence towards clinical classifications. 

  Level of Instruction: Intermediate

Carrie Horton, MS, CGC | Presenter

Sr. Clinical Research Specialist - Oncology, Ambry Genetics

Ms. Horton received her M.S. in Genetic Counseling from Arcadia University and practiced clinically as a cancer genetic counselor in Memphis, TN prior to joining Ambry Genetics 6 years ago. As a reporting genetic counselor at Ambry, she performed variant assessment, generated reports for oncology tests, and curated clinical literature for report content. In her current role as Sr. Clinical Research Specialist, she designs and conducts studies focusing on the translational application of Ambry's research. Ms. Horton's research interests include improving the clinical utility of and increasing access to genetic testing.

Caitlin Reid, CGC | Moderator

Genomic Science Liaison, Ambry Genetics

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.