Guest:
Thomas Quertermous, Director of Research, Division of Cardiovascular Medicine, Stanford University Bio and Contact Info
Listen (7:45) Close, but not quite there
Listen (5:34) How good are the commercial bioinformatics providers?
Listen (8:19) The challenge of education
Listen (5:12) Genetics and heart disease
Listen (2:55) Where do you put the price for whole genome interpretation?
Listen (2:32) Are long reads a big deal?
Thomas Quertermous co-chairs a pretty spectacular committee at Stanford. Called the Dean’s Panel on Clinical Genomic Testing, the committee makes the call on which genetic tests are ready for prime time in the clinic. Thomas joins us to launch our new series, Genomic Medicine Today: Where Are We?
The goal of this series is to find out just what practical progress we’ve made in commercializing whole genome sequencing. What are the success cases? How many are there really? What are the obstacles and keys to progress?
TQ, as he's known in the industry, recently co-authored a paper published in the Journal of the American Medical Association (JAMA) that provided a snapshot of just where we’re at today with genomic medicine. The conclusion? We’re close, but not quite there.
The key to clinical whole genome sequencing, he suggests, is to come to it with the question of "what you hope to learn from the adventure."
“I think it’s good if you start with a goal and try to stick to that goal rather than create an all encompassing analysis of the genome," he says in today’s interview.
As for challenges, TQ says that we need better healthcare informatics solutions, and always, better education at the provider level.
What are his thoughts on the leading commercial solutions for whole genome interpretation, and does it really cost $100,000? What does TQ think about the rise of long read sequencing led by PacBio this past year?
Join us as we begin a new series probing the front lines of clinical genomics.
Podcast brought to you by: Omicia - Offering end-to-end genome interpretation and reporting solutions to help diagnostic labs and research institutions unlock the potential of individualized medicine.
