Recommendations for Next-Generation Sequencing Germline Variant Confirmation

This webinar will present the recent recommendations from the American College of Medical Genetics and National Society of Genetic Counselors regarding the appropriate use of orthogonal confirmation for germline variants identified by next-generation sequencing (NGS). These recommendations will be placed in the context of the state of knowledge of the advantages and disadvantages of NGS technologies commonly in use in clinical laboratories and in the context of applicable laboratory regulation. Resources for integrating the recommendations into laboratory workflows and policies will be discussed.

Level of Instruction: Intermediate

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Margo Gallegos
Genomic Science Liaison
Margo Gallegos joined Ambry Genetics in 2020 as the Specialty Genomic Science Liaison for the Northeast United States territory. She previously worked as a pediatric genetic counselor at Children’s National Medical Center in Washington, D.C, and an oncology genetic counselor at Anne Arundel Medical Center in Annapolis, MD. Her volunteer interests include public policy and […]

Margo Gallegos joined Ambry Genetics in 2020 as the Specialty Genomic Science Liaison for the Northeast United States territory. She previously worked as a pediatric genetic counselor at Children’s National Medical Center in Washington, D.C, and an oncology genetic counselor at Anne Arundel Medical Center in Annapolis, MD. Her volunteer interests include public policy and licensure of genetic counselors both at the state and federal level. Margo received her Bachelors of Science degree in Cell Biology and Genetics from University of Maryland, College Park. She earned her Masters of Science degree in Genetic Counseling from University of South Carolina School of Medicine and is certified by the American Board of Genetic Counseling.