Whole Exome Sequencing Reflex Test Offers Cost-Effective Diagnosis: Cherisse Marcou, Ph.D., and Kristen Rasmussen, M.S., CGC

Cherisse Marcou, Ph.D., and Kristen Rasmussen, M.S., CGC, explain how Mayo Clinic Laboratories' WESPR whole exome sequencing reflex test provides cost-effective diagnosis of complex genetic conditions. Using samples and data from previous targeted gene panels, WESPR's wider net can identify undetected genetic variants.(00:32) Would each of you share a little bit about yourselves and your background? (01:42)Could you provide us with an overview of the whole exome reflexing panel? (02:53) Is this different from our whole exome sequencing panel and our whole exome reanalysis panel? (04:00) Tell us more about who benefits from this test. (06:17) What is the clinical utility of this testing? (08:07)Would you help providers understand how to go about ordering? (11:23)Could you tell us more about the types of variants identified by this test? (13:39)Based on those performance characteristics, how does our test match up to other exome tests available in the market? (14:30)Are there any other unique features you would like to highlight? (15:57)What is the turnaround time for the reflex panel? (16:14)Can the results from the WESPR test be reanalyzed in the future as new genetic knowledge emerges? (16:56)How are variants reported, especially variants of uncertain significance? And does the report include recommendations? (19:31)Would you summarize the benefits of the WESPR at Mayo Clinic Laboratories?