Undiagnosed Diseases Network Grand Rounds 2025: Is a Genome Always Necessary? (RECORDING)

In clinical practice, when an exome is non-diagnostic, next steps have included waiting for a time-lapsed re-analysis or proceeding with a genome. In this recorded webinar, Vandana Shashi, MBBS and Rebecca Spillmann, MS, CGC present 4 Undiagnosed Diseases Network (UDN) cases where exome sequencing and re-analysis and targeted genetic testing had already occurred and subsequently genome sequencing was performed in the UDN. In retrospect, in each of the four cases, the variants could have been reported from prior data/testing. They review the four diagnosed cases to delineate how the diagnoses occurred in the UDN and why they had not been made previously.

  Release Date: May 5, 2025
  Expiration Date: May 4, 2028
  Estimated Time to Complete: 49 minutes
  Registration Fee: FREE
*Originally recorded on April 10, 2025

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1. Identify the nuances of variant interpretation in exome and genome sequencing analyses, to understand the difference between variant detection and variant prioritization.
2. Recognize the importance of the UDN n-of-1 approach in resolving non-diagnostic exome sequencing.
3. Identify the limitations of exome sequencing and genetic testing through clinical laboratories.

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American Medical Association (AMA) 
Stanford Medicine designates this Enduring Material for a maximum of 0.75 AMA PRA Category 1 Credits^TM.  Physicians should claim only the credit commensurate with the extent of their participation in the activity. 

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