Patient for Life: When New Evidence Changes Everything

Description
In this webinar, we will explore the evolving landscape of exome sequencing (ES) reanalysis and its critical role in improving diagnostic outcomes. Participants will begin by examining the clinical importance and the rationale for reanalyzing ES data over time. The session will then compare different reanalysis approaches—laboratory-driven, clinician-initiated, and family study-based—highlighting their respective efficiencies and limitations. Finally, we will assess the types of evidence that most effectively drive reclassification, such as emerging gene-disease associations, updated public databases, and evolving variant interpretation guidelines. Case examples and cohort data will be used to illustrate key points and support practical application in clinical and laboratory settings.

Level of Instruction
Intermediate - Refresher course; some basic knowledge of subject recommended

Learning Objectives

  1. Examine the clinical importance of reanalysis and reclassification for exome sequencing.
  2. Compare various approaches to exome reanalysis.
  3. Evaluate the types and impact of sources of evidence used in exome reclassifications
Course summary
Available credit: 
  • 0.10 NSGC CEU
  • 1.00 PACE Contact Hour
Course opens: 
08/07/2025
Course expires: 
08/07/2027
Cost:
$0.00

Presenter: Meghan Towne, MS, CGC, LCGC

Genomic Science Liaison II at Ambry Genetics

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 a reporting genetic counselor on the clinical genomics team. She 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.

 

Moderator: Melissa Holman, MS, CGC

Senior Genomic Science Liaison at Ambry Genetics

Melissa Holman is a certified genetic counselor and Cardiology & Rare Disease Genomic Science Liaison at Ambry Genetics. She completed her BS in Genetics with a minor in Psychology at Clemson University and received her Masters of Science in Genetic Counseling from Virginia Commonwealth University. After graduate school, Melissa worked for several years as a genetic counselor in South Bend, Indiana. In 2019 she moved to Winston Salem, NC and transitioned to her current role at Ambry Genetics. As a Genomic Science Liaison, 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.

Educational Independence and Disclosure Policy

EducateNext is committed to providing independent, objective, and evidence-based educational content. None of the individuals in control of this content—including our planners, reviewers, and approval faculty—have any financial relationships with ineligible companies to disclose. For all educational sessions, speaker-specific disclosures regarding any potential conflicts of interest are required and will always be shared directly with learners at the beginning of their respective presentations.

Ambry Genetics is approved as a provider for continuing education program by NSGC and ASCLS P.A.C.E ® Programs.

 

Available Credit

  • 0.10 NSGC CEU
  • 1.00 PACE Contact Hour

Price

Cost:
$0.00
Please login or register to take this course.

By registering for and taking this activity, you agree to submit your information to Ambry Genetics, who will use it to communicate with you regarding EducateNext educational activities. Ambry may also use this information to inform you of their other services such as upcoming educational activities, product updates, and other future events. You can opt out of such communications at any time. Ambry will always handle your information in line with their Privacy Policy (https://www.ambrygen.com/legal/privacy-policy).