Whole genome sequencing streamlines diagnosis: Nicole Boczek, Ph.D., and Sarah Barnett, M.S., CGC
Nicole Boczek, Ph.D., and Sarah Barnett, M.S., CGC, explain how Mayo Clinic Laboratories' whole genome sequencing provides comprehensive information for rapid diagnosis of hereditary disorders.
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Show Notes
(00:31)
Would each of you share a little bit about yourselves and your backgrounds?
(01:47)
Could you provide us with an overview of what the WGSDX test is?
(02:26)
How is that different from other genetic tests, like exome or microarray?
(03:56)
Tell us more about who benefits from these tests.
(07:17)
Is this test recommended by expert groups?
(09:10)
How do providers go about ordering this test, and what sample types are accepted?
(11:12)
What type of variants are detected by this test?
(13:04)
How would you say our test matches up to other genome tests available on the market?
(14:04)
What about medically actionable secondary findings?
(14:55)
Are there any other unique features?
(16:07)
Could you summarize the benefits of doing WGSDX at Mayo?