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Validation of RNA Genetic Testing for Use in a Clinical Diagnostic Setting - Ambry Genetics
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- 1 Intro
- 2 Disclosures/ Conflict of Interest
- 3 Lecture Outline
- 4 Advancements in genetic testing
- 5 DNA-based genetic testing may miss patients with hereditary cancer or provide inconclusive results
- 6 Morphological and functional diversity of RNA
- 7 mRNA processing
- 8 RNA alternative splicing (AS)
- 9 RNA AS provides functional evidence to support variant reclassification and identification
- 10 Background of RNA genetic testing
- 11 Considerations for whole transcriptome sequencing
- 12 RNA genetic testing and DNA MGPT are performed in parallel
- 13 DNA MGPT reporting range is not required for RNA genetic testing
- 14 Aberrant splicing is determined based on data quality and comparison to healthy controls
- 15 Clinical utility and scalability of RNA genetic testing
- 16 Demographics of healthy controls
- 17 Selection of 18 tumor suppressor genes
- 18 Demographics do not confound splicing profile for 18 TSGS
- 19 Number of alternative splicing events vary by gene
- 20 Validation of RNA genetic testing with known splicing variants
- 21 Orthogonal confirmation with Clone-Seq
- 22 Pilot Data
- 23 Variants identified only with RNA genetic testing
- 24 Case #2: Exon 17 skipping in BRCAL
- 25 Case study #3: Exon 56 skipping in ATM
