Leveraging Innovation to Improve the Identification of Patients with Hereditary Cancer

Leveraging Innovation to Improve the Identification of Patients with Hereditary Cancer

Ambry Genetics via YouTube Direct link

Intro

1 of 15

1 of 15

Intro

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Leveraging Innovation to Improve the Identification of Patients with Hereditary Cancer

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

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