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.

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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?