Recommendations for Next-Generation Sequencing Germline Variant Confirmation with Kristy R. Crooks, Ph.D., FACMG

• 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

  

  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.

Margo Gallegos, MS, LCGC | Moderator

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 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.

Kristy Crooks, Ph.D., FACMG | Presenter

Associate Professor, Department of Pathology, University of Colorado

Dr. Crooks is a board-certified clinical molecular and cytogeneticist and Director of the Colorado Center for Personalized Medicine (CCPM) Biobank, an institutional initiative for the development of sample cohorts and genetic and health record datasets for research and clinical use. With over 200,000 participants from across the United States, the CAP-accredited CCPM Biobank represents one of the largest and most diverse clinical biorepository cohorts generated to date. Dr. Crooks’ primary research interests include evaluating metrics of population-based genetic screening and return of clinically-actionable genetic test results, including pharmacogenetics and high-impact pathogenic constitutional variants, to advance precision medicine and improve patient outcomes.