View Only- Three Years of WES Clinical Services at CCHMC-Three Years of WES Clinical Services at CCHMC

Video Transcription

Video Summary

The video is a recording of a genomics case conference hosted by Cincinnati Children's Hospital Medical Center. The conference is supported by an unrestricted educational grant from QIAGEN Bioinformatics and the Ingenuity Clinical Decision Support Platform. The conference starts with an introduction to the presenters and credits given to the sponsors. The learning objectives of the conference include describing the clinical utility of extra-genome sequencing tests, identifying clinical indications for extra-genome sequencing, and discussing the limitations and future directions of whole-exome and genome testing. The conference then proceeds with the presentation of three interesting cases. The first case discusses the use of whole-exome sequencing to diagnose a patient with X-linked lymphoproliferative syndrome type 2. The second case explores the use of abatacept, a CTLA-4 antagonist, to treat patients with common variable immune deficiency. The third case focuses on a patient with suspected hemeophagocytic lymphohistiocytosis, who was found to have a variant in the XIAP gene. The conference concludes with a discussion on the limitations of whole-exome sequencing and the future directions of genomic testing. Overall, the video provides valuable insights into the clinical applications and challenges of genomics in diagnosing and treating patients.

Asset Subtitle

Hosted by Cincinnati Children’s Medical Center

Keywords

genomics

case conference

whole-exome sequencing

clinical utility

limitations

future directions

diagnosis

treatment

challenges