Exome Sequencing for Prenatal Indications with Meghan Towne, MS, CGC, LGC

This seminar will focus on updating the audience on recent publications in the prenatal exome sequencing space, including the points to consider for prenatal exome sequencing from ACMG published this year. The technical challenges and diagnostic considerations of performing exome sequencing for fetal indications will be reviewed. This session will also cover diagnostic rates by indication type, including summarizing current data on expanded indications for prenatal exome sequencing referrals like non-structural fetal anomalies and other pregnancy-related findings.

Meghan Towne, MS, CGC, LGC | Presenter

Sr. Clinical Research Specialist - Rare Diseases, Ambry Genetics

Meghan attended Boston University School of Medicine for her graduate studies in Genetic Counseling. Her studies piqued her interest in the impact of innovative technologies on diagnosing and connecting families with rare genetic disorders. Meghan worked for seven years at Boston Children’s Hospital developing the institutional infrastructure for gene discovery, enhancing research collaborations, and evaluating the utility of genomic sequencing in newborns. In 2016, Meghan joined Ambry as an exome reporting genetic counselor on the clinical genomics team before transitioning to the Clinical Research team as a Senior Clinical Research Specialist in 2019. Meghan also serves as a voting member of the Massachusetts General Hospital IRB and as a course coordinator for research seminar series at the Boston University Genetic Counseling Program.

Margo Gallegos, MS, CGC | Moderator

Genomic Science Liaison, Ambry Genetics

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.