The One in a Million Podcast
from Novartis Canada Medical Affairs
Variant interpretation and the future of genetic testing – conversation with Christian Marshall, PhD
You last listened April 30, 2021
When you order a genetic test there are 3 outcomes: a positive result which will support a molecular diagnosis; a negative result meaning that nothing was found and a molecular diagnosis cannot be confirmed, and then there is a huge area in the middle of uncertainty. Now just how does one go about interpreting those variants...have a listen!
Our host, Dr Michelle Batthish (Associate Professor in the Department of Pediatrics' Division of Rheumatology at McMaster University) invites you to listen into the first episode of the first series of the One in a Million Podcast, which will serve as a background and introduction into the world of autoinflammation. In this episode, she sits down with Dr Ron Laxer where they get to the basics of this space.
Dr. Marshall is a Clinical Laboratory Director in the Division of Genome Diagnostics at the Hospital for Sick Children in Toronto, and an Assistant Professor at the University of Toronto. Medical genetics has been the focus of his career, specifically in understanding how genetic variation is associated with disease phenotypes and then translating these associations into diagnostics. Dr. Marshall’s current research focuses on the application of new sequencing technologies for identification of human genome variation causing disease. As a principal investigator for the Centre for Genetic Medicine’s Genome Clinic, he is exploring the diagnostic utility of genome sequencing in pediatric medicine and the translation of the technology into clinical diagnostics.
Dr. Marshall is a Clinical Laboratory Director in the Division of Genome Diagnostics at the Hospital for Sick Children in Toronto, and an Assistant Professor at the University of Toronto. Medical genetics has been the focus of his career, specifically in understanding how genetic variation is associated with disease phenotypes and then translating these associations into diagnostics. Dr. Marshall’s current research focuses on the application of new sequencing technologies for identification of human genome variation causing disease. As a principal investigator for the Centre for Genetic Medicine’s Genome Clinic, he is exploring the diagnostic utility of genome sequencing in pediatric medicine and the translation of the technology into clinical diagnostics.