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?

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Could you provide us with an overview of the whole exome reflexing panel?

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 Is this different from our whole exome sequencing panel and our whole exome reanalysis panel?

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 Tell us more about who benefits from this test.

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 What is the clinical utility of this testing?

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Would you help providers understand how to go about ordering?

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Could you tell us more about the types of variants identified by this test?

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Based on those performance characteristics, how does our test match up to other exome tests available in the market?

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Are there any other unique features you would like to highlight?

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What is the turnaround time for the reflex panel?

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Can the results from the WESPR test be reanalyzed in the future as new genetic knowledge emerges?

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How are variants reported, especially variants of uncertain significance? And does the report include recommendations?

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Would you summarize the benefits of the WESPR at Mayo Clinic Laboratories?