Leveraging Innovation to Improve the Identification of Patients with Hereditary Cancer

Explore innovative approaches to improve the identification of patients with hereditary cancer in this 46-minute session from Ambry Genetics. Learn how technical advancements, particularly RNA genetic testing, enhance the diagnostic yield of hereditary cancer panel testing through current data and specific case examples. Discover the benefits of an end-to-end solution utilizing chatbot technologies to distribute risk assessment questionnaires, identify eligible patients for testing or those at increased cancer risk, and provide access to genetics resources, including genetic counseling. Understand the pivotal role genetic counselors play in implementing this approach within health systems. Delve into topics such as the limitations of DNA-based genetic testing, the importance of expansive data sources for variant interpretation, and the advantages of paired DNA and RNA genetic testing. Examine real-world case studies, including an RNA-Seq identified inclusion of a cryptic exon in APC. Gain insights into comprehensive assessment, risk, and education solutions that leverage AI technologies while utilizing genetic counselors' skills. Explore key considerations for patient identification, virtual assistance, clinical documentation, and pre-test education. Leave with valuable takeaways to enhance hereditary cancer patient identification and management in clinical practice.

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