[Genetics 101] Basics of Exome Sequencing with Meghan Towne, MS, CGC, LGC

Audience members will receive a background on exome sequencing technology to better understand the advantages and limitations to the methodology. The presentation will cover the full laboratory process including sample preparation, sequencing data formats, variant filtering, gene-disease prioritization and report structure.

Meghan Towne, MS, CGC, LGC | Presenter

After obtaining her B.S. in biology with a minor in chemistry from Boston College in 2007, 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 Affairs team as a Senior Clinical Affairs Research Specialist in 2019. Meghan also maintains her research connections to the Boston community by serving as a voting member of the Massachusetts General Hospital IRB and as a course coordinator for research seminar series at Boston University.

Shreya Malhotra, MS | Moderator

Shreya Malhotra is an oncology genetic specialist at Ambry Genetics for the coastal region of the USA. She received her MS in Genetic Counseling from Sarah Lawrence College. In her current role, she serves as a clinical liaison for the field team to educate health care providers and other key opinion leaders on genetic testing and genomic medicine. Prior to her role at Ambry, Shreya served as the genetic counselor and clinic/ research coordinator for the PTEN clinic at Cleveland Clinic. Shreya received her BS in Economics from New York University. She is passionate about cancer genetics, business development and clinical research.