Gene-Disease Validity: Developing and Applying a Rigorous Framework in a Diagnostic Laboratory with Meghan Towne, MS, CGC, LCGC & Devon Thrush, MS, CGC

• This presentation will focus on the innovation, maintenance, and application of a robust gene-disease validity system in the diagnostic laboratory setting. We will discuss fundamentals of assessing available evidence to establish associations between genes and diseases. You'll also learn about how we develop and apply our scheme to reduce the risk of missed and incorrect diagnoses, limit VUS burden, increase confidence in test results, and drive clinical utility.

  *CEU credit is not available for this webinar.*

Meghan Towne, MS, CGC, LCGC | Presenter

Clinical Research Investigator - Rare Diseases at Ambry Genetics

Meghan completed her graduate studies in Genetic Counseling at Boston University School of Medicine, where she developed a keen interest in the impact of innovative genomic technologies on diagnosing and connecting families affected by rare genetic disorders. Meghan worked for seven years at Boston Children’s Hospital, playing a pivotal role in developing institutional infrastructure for gene discovery, fostering international research collaborations, and assessing the efficacy of genomic sequencing in various populations. In 2016, Meghan transitioned to Ambry Genetics, initially serving as an Exome Reporting Genetic Counselor on the clinical genomics team. In 2019, she moved to the Clinical Research team and currently holds the role of Clinical Research Investigator. Meghan oversees research initiatives encompassing Ambry’s cardiology, neurology, exome, and other rare disease products. Her specific scientific interests include defining new gene-disease relationships, evidence-based variant classification, and promoting the clinical utility of genetic testing. Additionally, Meghan is interested in research ethics and governance, serving as a voting member of the Massachusetts General Brigham Institutional Review Board (IRB).

Devon Thrush, MS, CGC | Presenter

Associate Director, Product Development at Ambry Genetics

Devon received her MS in Genetic Counseling from Case Western Reserve University. Prior to joining Ambry in 2015, she was in clinical practice and also worked as a laboratory genetic counselor at Nationwide Children’s Hospital where she was active in teaching. Product development has been Devon’s focus since joining Ambry. As a Senior Genomic Specialist she contributed to clinical test designs, gene content curation, systems validation, and the development of the CARE Program TM . In her current role as Associate Director of Product Development, Devon’s work is highly cross-functional, collaborating with teams across Ambry to evaluate product concepts and their feasibility focusing on assay development and product content.

Catherine Schultz, MS, CGC | Moderator

Sr. Medical Science Liaison - Medical Genetics & Reproductive Health at Ambry Genetics

Catherine received her MS in Genetic Counseling from the University of Alabama at Birmingham and practiced clinically as a multidisciplinary genetic counselor in Birmingham, AL prior to joining Ambry in 2016. As a Genomic Science Liaison for the Southcentral United States, she served as a clinical liaison for the field team to educate health care providers on genetic testing and genomic medicine. In her current role as a Sr. Medical Science Liaison, Catherine engages key opinion leaders and members of the medical and scientific community to advance the development of novel testing approaches and improve the utility of existing clinical tests.