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RNA-Seq Identifies Mutations That May Otherwise be Missed By DNA-based Testing
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Classroom Contents
Leveraging Innovation to Improve the Identification of Patients with Hereditary Cancer
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- 1 Intro
- 2 DNA-based Genetic Testing May Miss Patients with Hereditary Cancer or Provide Inconclusive Results
- 3 Utilization of Expansive Data Sources for Variant Interpretation is Critical
- 4 Paired DNA and RNA Genetic Testing for Hereditary Cancer
- 5 RNA-Seq Identifies Mutations That May Otherwise be Missed By DNA-based Testing
- 6 Peer-Reviewed Publications
- 7 RNA-Seq Identified Inclusion of a Cryptic Exon in Intron 8 of APC Indicating a Potential DNA Variant
- 8 Clinical History
- 9 Discussion Issues
- 10 Comprehensive Assessment, Risk, & Education End-to-end solutions are needed that take advantage of Al technologies while utilizing skills of genetic counselors
- 11 Identification: Key Considerations
- 12 Virtual Assistant and Clinical Documentation
- 13 Pre-Test Education
- 14 Key Takeaways
- 15 Additional Takeaways
