Episode
Whole Exome Sequencing Reflex Test Offers Cost-Effective Diagnosis: Cherisse Marcou, Ph.D., and Kristen Rasmussen, M.S., CGC
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- Answers from the Lab
- Published
- Sep 2, 2025
- Duration seconds
- 1333
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- https://share.transistor.fm/s/34602bf7
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Summary
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?