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1
Intro
2
Comprehensive NGS-Based DNA Testing at MSKCC
3
MSK-IMPACT for Tumor Tissue Profiling
4
Clinical Interpretation of Sequence Variants OnceKB
5
Automated Monitoring for Precision Oncology Clinica
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MSK-IMPACT Data Sharing Paradigm
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Additional Features Revealed Through TIN Sequencin
8
Clinical Germline Assessment
9
Inferring Cancer Risk Through T/N Sequencing Tumor DNA
10
Prevalence of Clonal Hematopoiesis
11
Clonal Hematopoiesis Clinic at MSKCC
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How Do Germline Variants Influence Somatic Phenoty
13
Prevalence of Pathogenic Mutations by Cancer Type
14
Prevalence of Biallelic Inactivation by Cancer Type
15
Many cancer are independent of the germline allele
16
Germline Contributions to Clonal Hematopoiesis?
17
Limitations of Tissue-Based DNA Sequencing
18
Genomic Profiling Using Plasma Cell-free DNA CFDNA
19
Rare Variant Detection: Ultra-Deep Sequencing & Erra Suppression
20
MSK-ACCESS for Plasma cfDNA Profiling
21
Clinical Implementation of MSK-ACCESS at MSK - Approved by NYS Department of Health in May 2019
22
Importance of Sequencing Matched Normal WBCs Identify and eliminate garming and clonal hematopoinsis variants
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Polyclonal Acquired Resistance is commonly Observ
24
Additional Examples of Polyclonal Resistance Mutatic
25
Ongoing work: Increase sensitivity for detecting ctDN
26
Patients with Lynch Syndrome Develop MSI-H Tumors
27
Detecting MSi in cDNA Using MSK-ACCESS
28
Future Prospects for Clinical Sequencing • Incorporate more genes, non-coding regions, viral DNA
29
Acknowledgements: Molecular Diagnostics Service
30
Acknowledgements (Part 2)
Description:
Explore a comprehensive lecture on building a scalable clinical genomics program for cancer care, risk assessment, and detection. Delve into advanced NGS-based DNA testing techniques, including tumor tissue profiling, clinical interpretation of sequence variants, and automated monitoring for precision oncology. Learn about data sharing paradigms, clinical germline assessment, and the implications of tumor/normal sequencing for cancer risk inference. Examine the prevalence of clonal hematopoiesis and its clinical significance. Investigate the limitations of tissue-based DNA sequencing and the potential of plasma cell-free DNA profiling. Discover cutting-edge approaches to rare variant detection, including ultra-deep sequencing and error suppression techniques. Gain insights into polyclonal acquired resistance in cancer treatment and ongoing efforts to increase sensitivity in detecting circulating tumor DNA. Explore future prospects for clinical sequencing, including the incorporation of more genes, non-coding regions, and viral DNA analysis. Read more

Building a Scalable Clinical Genomics Program - Spring 2021

Stanford University
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