Description:
This presentation explores the complexities of interpreting genetic variants of uncertain origin (VUO) identified through blood DNA testing. Attendees will learn to recognize clinical and laboratory cues that suggest a variant may not be of germline origin, with a discussion of potential sources such as mosaicism and somatic mutations. Drawing on genetics clinic experience, the presentation outlines a standard approach to investigating VUOs, including testing methods and clinical follow-up considerations. Real-world case studies will illustrate diagnostic challenges and management strategies for patients with VUO findings. Finally, current guidelines and diagnostic strategies for evaluating VUOs will be assessed to support informed clinical decision-making.
Objectives
At the end of the session, participants will be able to:
- Identify cues suggesting that a variant detected in blood may be of uncertain origin.
- Assess current guidelines and diagnostic strategies for interpreting VUO.
- Illustrate real-world cases involving mosaic or somatic variants identified during germline genetic testing.
Target Audience: Clinical Geneticists, Laboratory Geneticists, Genetic Counsellors, Trainees, Molecular Pathologists, Medical Lab Technologists
CanMEDS Roles: Medical Expert (the integrating role), Communicator, Collaborator, Scholar, Professional
Speakers: Dr. My Linh Thibodeau, Dr. Laila Schenkel
Event Timeslots (1)
Day 2
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KC 101-103-105 - Dr. My Linh Thibodeau, Dr. Laila Schenkel
