Beyond DNA: Current RNA Insights in Cancer and Rare Disease

Description

Traditional DNA testing often leaves clinicians with inconclusive results or variants of uncertain significance (VUS). Integrating RNA sequencing has emerged as a powerful approach, increasing diagnostic yields and variant classification accuracy across both oncology and rare disease cohorts. This talk will review splicing fundamentals alongside the capabilities and limitations of modern RNA analysis technologies. The speakers will discuss the distinct advantages of concurrent RNA and DNA testing, explore real-world clinical applications through case-based lessons learned in oncology and rare disease, and outline future directions for multi-omic genetic testing.

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

Learning Objectives

1. Discuss the advantages of integrating RNA and DNA analysis
2. Assess which scenarios are most likely to benefit from RNA analysis
3. Propose how RNA analysis will continue to be impactful in the future

Course summary

Available credit: 
  • 0.10 NSGC CEU
Course opens: 
08/20/2026
Course expires: 
08/20/2028
Cost:
$0.00

Presenter: Magan Trottier MSc, MSc, CGC

Clinical Research Scientist II at Ambry Genetics

Magan Trottier works in clinical research at Ambry Genetics, specializing in hereditary cancer. She holds Masters degrees in molecular genetics and genetic counseling from the University of Toronto. She has over a decade of experience as a hybrid research and clinical genetic counselor, and prior to joining Ambry Genetics worked in the Bahamas and extensively in New York City. Magan is passionate about advancing research that directly impacts clinical care, particularly in expanding genetic testing in ways that improve access.

 

Presenter: Grace VanNoy MS, CGC

Supervisor, Clinical Research at Ambry Genetics

Grace received her MS in Genetic Counseling from Boston University and worked in clinical rare disease research in Boston, MA for 8 years prior joining Ambry. In her current role as a Supervisor on the Clinical Research team, she conducts and supports rare disease research within Ambry and with collaborators. Her research interests include novel gene discovery, genomic sequencing, and improving access to genetic testing.

 

Moderator: Katie Crawford MS, CGC

Clinical Science Liaison at Ambry Genetics

Katie is a Clinical Science Liaison at Ambry Genetics working with oncology, rare disease, and exome. She has previously worked clinically at Women & Infant's Hospital of Rhode Island for over five years as an oncology genetic counselor. She is a graduate of the Arcadia University Genetic Counseling Program and has numerous scientific publications in the fields of oncology, neurology, epidemiology, and psychiatry.

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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.

Credit eligibility varies by activity; please see below for the specific credit types offered for this course.

Available Credit

  • 0.10 NSGC CEU

Price

Cost:
$0.00
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Please note: Attendees must track continuing education (CE) credits towards recertification. Credit cannot be claimed for both live and recorded versions of the same webinar; attendance is cross-checked annually. We apologize for the inconvenience and are working toward a single-platform solution to automatically manage dual registration and integrated transcript tracking.