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Introduction
to Genomic
Testing
Cooperative
(GTC)
0403
0201
Established by Dr. Maher Albitar, CEO
and Chief Medical Officer
• Tenured full professor at University of Texas MD
Anderson Cancer Center (12 years)
• Quest Diagnostics: Director of Oncology and
Hematopathology (7 years)
• NeoGenomics: SVP, Chief Medical Officer and
Director of R&D (7 years)
• Certified AP/CP Pathologist, Hematopathologist and
Molecular Pathologist
Focus on integrating AI with
Next-Generation Sequencing
Next-Generation Sequencing
Laboratory
providing genomic profiling that is
affordable and accessible within
communities across the country.
Cooperative
Business Model
Introduction to Genomic Testing Cooperative
Advantages of a
Co-op Business
Model
A new way to become part of
the revolution of Genomic
Profiling of Cancer with
Next-Generation Sequencing
(NGS)
Advantages of a Co-op
Business Model
 NGS is important for Precision Medicine,
but cost is dependent on volume
 Efficiency/cost effectiveness and
affordability
 Sharing resources allows for economies of
scale to take place driving down cost while
keeping quality high
 Access to highly skilled bio-informatic
team and data scientists
 High-caliber science and innovation in test
development
 State-of-the-art technology
 Adapts faster to regulatory demands
Two Ways in Accessing Well Validated Tests
Low Volume
Practice Groups
High Volume Laboratories
Practice Groups and Academic Centers
Two Ways in Accessing Well Validated Tests
Low Volume
Practice Groups
● Send-out reference model
● Comprehensive reporting with
member’s logo and name
● Cooperation, sharing resources
and participating in research and
development
Two Ways in Accessing Well Validated Tests
High Volume Laboratories
Practice Groups and
Academic Centers
● Internalization model
● Satellite wet lab within member’s
facility
● Transfer lab developed tests (SOP,
validation and FDA-clearance)
● Data analysis and reporting by central
GTC Lab.
● Advanced technology and revenue
opportunities within member’s facility
Technology Innovations
Artificial Intelligence & Machine/Deep Learning
Artificial Intelligence & Machine/Deep Learning
01
02
03
04
05
Increasing efficiency using
deep learning
Personalized medicine aided
by deep learning
Interpreting NGS data
using deep learning
Treatment recommendation
aided by deep learning
Accurate variant calling
using deep learning
Technology Innovations
Transforming
Diagnostic Testing
Integrating Molecular Medicine
in Oncology Practice
Solid Tumor
Profiles
Solid Tumor Profiles
• Sequencing of DNA and RNA for
Solid Tumors
• Complete molecular profiling with
recommendation for targeted
and Immuno therapy
• Aid in diagnosis for various types
of cancers: lung, colon, sarcoma,
thyroid, breast, bladder etc.
Solid Tumor Profiles
 GTC Solid Tumor Profile – profiles the
molecular abnormalities in various solid tumors covering
434 genes.
 -Detects microsatellite instability (MSI) and tumor mutational
burden (TMB)
 GTC Solid Tumor Fusion/Expression
Profile – covers more than 50 genes and detection of all
clinically relevant translocations in solid tumors, including
ALK, ROS1, RET, NTRK 1/2/3, BRAF and others. Detects
all reported translocations in sarcoma.
 GTC Solid Tumor PLUS – combines the analysis
of DNA with RNA including detection of single nucleotide
variation, copy number variation, expression and fusion.
Hematology Profiles, Performed on Cells and
cfDNA (Liquid Bx)
 GTC Hematology Profile – provides complete genomic profiling
of 177 genes involved in hematologic neoplasms
 GTC Liquid Biopsy, Hematology Profile – utilizes cell-free DNA
(cfDNA) for detecting abnormalities in hematologic diseases and
reduces the need for bone marrow biopsy.
 -GTC Hematology Fusion/Expression Profile – detects various
mutations and translocations involving ABL1, RUNX1, BCL2,
RARA, PAX5, JAK2, CBFB, NUP98 and other genes involved in
leukemia, lymphoma and myeloma.
 Diagnosis of ABC vs GCB and double hit lymphoma
 GTC Hematology PLUS – combines expression and fusion with
mutation analysis in DNA and RNA.
Tumor-Specific Panels-Solid Tumors
 Colorectal: MSI TMB APC ATM BRAF BRCA1 BRCA2 CTNNB1 EGFR EPCAM ERBB2 ERBB4 FBXW7 IDH1 IDH2 Kit KMT2C KMT2D KRAS MLH1
MSH2 MSH6 NEB NOTCH1 NRAS PIK3CA PDGFRa PMS2 POLE PTEN RNF43 SMAD4 TP53
 Thyroid: MSI TMB ALK APC ARID1A ATM BRAF BRCA1 BRCA2 CDKN2A CTNNB1 Egfr EPCAM HRAS Idh1 Idh2 Kit KMT2C KMT2D KRAS MEN1 MET
MLH1 MSH2 MSH6 NEB NF1 NOTCH1 NOTCH2 NRAS Pdgfra PIK3CA PMS2 PTEN RB1 RET TERT TP53 TSHR.
Add Fusion: ALK ROS1 RET PAX8-PPARγ1 NTRK1 NTRK2 NTRK3
 Ovary: MSI TMB APC ARID1A ATM ATR BRAF BRCA1 BRCA2 CDK12 CDKN2A CHEK2 CREBBP CTNNB1 EGFR EPCAM FAT1 FAT4 FBXW7 Idh1 Idh2 Kit
KMT2C KMT2D KRAS MET MLH1 MLL2 MSH2 MSH6 MTOR NF1 NOTCH2 NRAS Pdgfra PIK3CA PMS2 PPP2R1A PTEN PTPRT RB1 SMARCA4TP53
 Lung: MSI TMB ALK ARID1A ATM BAI3 BRAF BRCA1 BRCA2 CACNA1E CDKN2A EGFR EPCAM EPHA3 EPHA5 ERBB2 ERBB4 EYS FAT1
GRIN2A HCN1 HMCN1 Idh1 Idh2 Kit KMT2C KMT2D KRAS LRRC7 MET MLH1 MSH2 MSH6 NF1 NFE2L2 Nras NTRK3 OBSCN Pdgfra PIK3CA PIK3CG
PKHD1 PKHD1L1 PMS2 PTEN PTPRT RB1 SMARCA4 STK11 TP53
Add Fusion: ALK ROS1 RET NTRK1 NTRK2 NTRK3
 Breast: MSI TMB AKT1 APC ATM ATR ATRX Braf BRCA1 BRCA2 CDH1 CDKN2A EGFR EPCAM ERBB2 ERBB3 ERBB4 ESR1 Idh1 Idh2 KIT
KMT2A KMT2C KMT2D KRAS MAP2K4MAP3K1MLH1 MSH2 MSH6 MTOR NF1 NOTCH1 NOTCH2 Nras Pdgfra PIK3CA PIK3R1 PMS2 PTEN RB1
SF3B1 TP53
 Bladder: MSI TMB APC ARID1A ATM ATR Braf BRCA1 BRCA2 CDKN1A CDKN2A CREBBP Egfr EP300 EPCAM ERBB2 ERBB3
ERCC2 FBXW7 FGFR3 HRAS IDH1 IDH2 KDM6A Kit KMT2A KMT2C KMT2D Kras MLH1 MLL2 MSH2 MSH6 NF1 NOTCH2 Nras Pdgfra PIK3CA
PMS2 RB1 SMARCA4 STAG2 TP53 TSC1
 Prostate: MSI TMB APC AR ATM Braf BRCA1BRCA2CDK12CTNNB1 Egfr EPCAM HRAS Idh1 Idh2 JAK1 Kit KMT2A
KMT2C KMT2D KRAS MGA MLH1 MSH2 MSH6 NF1 Nras Pdgfra PIK3CA PMS2 PTEN RB1 SPOP TP53
 Melanoma: MSI TMB BRAF BRCA1 BRCA2 CDKN2A CTNNB1 DCC Egfr EPCAM EPHA7 ERBB4 HRAS Idh1 Idh2 Kit KMT2C KMT2D
KRAS MEN1 MET MLH1 MSH2 MSH6 NEB NF1 NOTCH1 NOTCH2 NRAS Pdgfra PMS2 PTEN ROS1 SPTA1 TP53
Tumor-Specific Panels-Hematology
• AML: DNMT3A FLT3-ITD FLT3-KD IDH2 NRAS PTPN11 IDH1 TET2 WT1 KRAS
SRSF2 ASXL1 CEBPA SF3B1 TP53 NPM1 JAK2 KIT BRAF ATRX BCOR
BCORL1 CBL CDH1 ERG ETV6 EZH2 FBXW7 GATA1 GATA2 GATA3 KMT2A
PPM1D RUNX1 STAG2 PHF6 PDGFRA
• MDS: DNMT3A FLT3-ITD FLT3-KD IDH2 NRAS PTPN11 IDH1 TET2 WT1 KRAS SRSF2
ASXL1 CEBPA SF3B1 TP53 NPM1 JAK2 KIT BRAF ATRX BCOR BCORL1
CBL CDH1 ERG ETV6 EZH2 FBXW7 GATA1 GATA2 GATA3 KMT2A PPM1D
CALR MYD88 RUNX1 STAT3 STK11 TERT STAG2 MPL PDGFRA PDGFRB PHF6
• MPN: DNMT3A IDH2 NRAS PTPN11 IDH1 TET2 WT1 KRAS SRSF2 ASXL1
CEBPA SF3B1 TP53 NPM1 JAK2 KIT BRAF BCORL1 CBL CDH1 EZH2
PPM1D CALR MYD88 STAT3 TERT MPL PDGFRA PDGFRB CSF3R PTPN11 PDGFRA
• ALL: ABL1 ASXL1 ATM BRAF FLT3 IDH1 IDH2 IKZF1 JAK1 JAK2 KIT
KRAS NOTCH1 NRAS PAX5 Pdgfra RUNX1 TP53
Fusion/Expression: ABL1 ABL2 ATF7IP CBL CENPC CRLF2 CSF1R EPOR FGFR1
FLT3 IL2RB JAK1 JAK2 LYNTYK2 MYH9 NTRK1,2,3 PCM1 PDGFRa PDGFRb PTK2B
RCSD1 TSLP
• DLBCL: GCB vs ABC Double Hit APC ARID1A ARID1B ASXL1 ATM B2M BIRC3 Braf
BTK CARD11 CD79B CREBBP EP300 EZH2 IDH1 IDH2 KMT2D KRAS MYC
MYD88 NFKBIA NOCH1 NOTCH1 NOTCH2 NRAS PIM1 RUNX1 SF3B1 SMARCA4 SOCS1
SPOP STAT3 TET2 TP53
Fusion/Expression: BCL2 MYC KI67 CD274 CD19 CD79A CD79B PAX5 BCL6
CREBBP IKZF2 CXCR2 MALT1
Advantages of working with GTC
Customization
Ability to adapt to
your needs
Comprehensive
reporting
Analysis of DNA &
RNA, TMB, MSI,
recommended
therapy and
clinical trial data
Affordability
Complete cancer
genomic profiling
for $1,500 -
$2,000
Turn around
time
Reporting results
in 7 days
Quality
Advanced
technology, new
chemistry,
increased sensitivity,
AI and deep
learning
Diagnostic Service
Our diagnostic service provides community access to advanced
genomic testing and supports members, non-members, clinical
trials, research and development needs.
Non-Member Service:
• Reference lab support with NGS
• Direct ordering and reporting at non-member pricing
• Access to complete cancer genomic and immunological profiling
• Third-party billing capabilities
Clinical Trials:
• Companion testing and translational studies
Logistics, Billing and Reimbursement
 Xifin Lab Information System - orders and results via web
 Interface capabilities
 Client bill or Third-party billing capabilities
 GTC will bill insurance companies directly as an independent service
provider and work with the payers to process claims for cost of testing.
 Reimbursement varies depending on carrier and coverage type,
but GTC will work with insurance provider to file appeals and
pursue coverage.
 GTC will work to limit patient financial responsibility
 Financial flexibility programs
Differentiating Factors
Innovation and
collaboration
Access to outcome data
Integrating AI with interpretation of
DNA an RNA data
Discussion Thank you!
Questions
Comments
Feedback

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Introducing Genomic Testing Cooperative (GTC)

  • 2. 0403 0201 Established by Dr. Maher Albitar, CEO and Chief Medical Officer • Tenured full professor at University of Texas MD Anderson Cancer Center (12 years) • Quest Diagnostics: Director of Oncology and Hematopathology (7 years) • NeoGenomics: SVP, Chief Medical Officer and Director of R&D (7 years) • Certified AP/CP Pathologist, Hematopathologist and Molecular Pathologist Focus on integrating AI with Next-Generation Sequencing Next-Generation Sequencing Laboratory providing genomic profiling that is affordable and accessible within communities across the country. Cooperative Business Model Introduction to Genomic Testing Cooperative
  • 3. Advantages of a Co-op Business Model A new way to become part of the revolution of Genomic Profiling of Cancer with Next-Generation Sequencing (NGS)
  • 4. Advantages of a Co-op Business Model  NGS is important for Precision Medicine, but cost is dependent on volume  Efficiency/cost effectiveness and affordability  Sharing resources allows for economies of scale to take place driving down cost while keeping quality high  Access to highly skilled bio-informatic team and data scientists  High-caliber science and innovation in test development  State-of-the-art technology  Adapts faster to regulatory demands
  • 5. Two Ways in Accessing Well Validated Tests Low Volume Practice Groups High Volume Laboratories Practice Groups and Academic Centers
  • 6. Two Ways in Accessing Well Validated Tests Low Volume Practice Groups ● Send-out reference model ● Comprehensive reporting with member’s logo and name ● Cooperation, sharing resources and participating in research and development
  • 7. Two Ways in Accessing Well Validated Tests High Volume Laboratories Practice Groups and Academic Centers ● Internalization model ● Satellite wet lab within member’s facility ● Transfer lab developed tests (SOP, validation and FDA-clearance) ● Data analysis and reporting by central GTC Lab. ● Advanced technology and revenue opportunities within member’s facility
  • 9. Artificial Intelligence & Machine/Deep Learning 01 02 03 04 05 Increasing efficiency using deep learning Personalized medicine aided by deep learning Interpreting NGS data using deep learning Treatment recommendation aided by deep learning Accurate variant calling using deep learning Technology Innovations Transforming Diagnostic Testing
  • 12. Solid Tumor Profiles • Sequencing of DNA and RNA for Solid Tumors • Complete molecular profiling with recommendation for targeted and Immuno therapy • Aid in diagnosis for various types of cancers: lung, colon, sarcoma, thyroid, breast, bladder etc.
  • 13. Solid Tumor Profiles  GTC Solid Tumor Profile – profiles the molecular abnormalities in various solid tumors covering 434 genes.  -Detects microsatellite instability (MSI) and tumor mutational burden (TMB)  GTC Solid Tumor Fusion/Expression Profile – covers more than 50 genes and detection of all clinically relevant translocations in solid tumors, including ALK, ROS1, RET, NTRK 1/2/3, BRAF and others. Detects all reported translocations in sarcoma.  GTC Solid Tumor PLUS – combines the analysis of DNA with RNA including detection of single nucleotide variation, copy number variation, expression and fusion.
  • 14. Hematology Profiles, Performed on Cells and cfDNA (Liquid Bx)  GTC Hematology Profile – provides complete genomic profiling of 177 genes involved in hematologic neoplasms  GTC Liquid Biopsy, Hematology Profile – utilizes cell-free DNA (cfDNA) for detecting abnormalities in hematologic diseases and reduces the need for bone marrow biopsy.  -GTC Hematology Fusion/Expression Profile – detects various mutations and translocations involving ABL1, RUNX1, BCL2, RARA, PAX5, JAK2, CBFB, NUP98 and other genes involved in leukemia, lymphoma and myeloma.  Diagnosis of ABC vs GCB and double hit lymphoma  GTC Hematology PLUS – combines expression and fusion with mutation analysis in DNA and RNA.
  • 15. Tumor-Specific Panels-Solid Tumors  Colorectal: MSI TMB APC ATM BRAF BRCA1 BRCA2 CTNNB1 EGFR EPCAM ERBB2 ERBB4 FBXW7 IDH1 IDH2 Kit KMT2C KMT2D KRAS MLH1 MSH2 MSH6 NEB NOTCH1 NRAS PIK3CA PDGFRa PMS2 POLE PTEN RNF43 SMAD4 TP53  Thyroid: MSI TMB ALK APC ARID1A ATM BRAF BRCA1 BRCA2 CDKN2A CTNNB1 Egfr EPCAM HRAS Idh1 Idh2 Kit KMT2C KMT2D KRAS MEN1 MET MLH1 MSH2 MSH6 NEB NF1 NOTCH1 NOTCH2 NRAS Pdgfra PIK3CA PMS2 PTEN RB1 RET TERT TP53 TSHR. Add Fusion: ALK ROS1 RET PAX8-PPARγ1 NTRK1 NTRK2 NTRK3  Ovary: MSI TMB APC ARID1A ATM ATR BRAF BRCA1 BRCA2 CDK12 CDKN2A CHEK2 CREBBP CTNNB1 EGFR EPCAM FAT1 FAT4 FBXW7 Idh1 Idh2 Kit KMT2C KMT2D KRAS MET MLH1 MLL2 MSH2 MSH6 MTOR NF1 NOTCH2 NRAS Pdgfra PIK3CA PMS2 PPP2R1A PTEN PTPRT RB1 SMARCA4TP53  Lung: MSI TMB ALK ARID1A ATM BAI3 BRAF BRCA1 BRCA2 CACNA1E CDKN2A EGFR EPCAM EPHA3 EPHA5 ERBB2 ERBB4 EYS FAT1 GRIN2A HCN1 HMCN1 Idh1 Idh2 Kit KMT2C KMT2D KRAS LRRC7 MET MLH1 MSH2 MSH6 NF1 NFE2L2 Nras NTRK3 OBSCN Pdgfra PIK3CA PIK3CG PKHD1 PKHD1L1 PMS2 PTEN PTPRT RB1 SMARCA4 STK11 TP53 Add Fusion: ALK ROS1 RET NTRK1 NTRK2 NTRK3  Breast: MSI TMB AKT1 APC ATM ATR ATRX Braf BRCA1 BRCA2 CDH1 CDKN2A EGFR EPCAM ERBB2 ERBB3 ERBB4 ESR1 Idh1 Idh2 KIT KMT2A KMT2C KMT2D KRAS MAP2K4MAP3K1MLH1 MSH2 MSH6 MTOR NF1 NOTCH1 NOTCH2 Nras Pdgfra PIK3CA PIK3R1 PMS2 PTEN RB1 SF3B1 TP53  Bladder: MSI TMB APC ARID1A ATM ATR Braf BRCA1 BRCA2 CDKN1A CDKN2A CREBBP Egfr EP300 EPCAM ERBB2 ERBB3 ERCC2 FBXW7 FGFR3 HRAS IDH1 IDH2 KDM6A Kit KMT2A KMT2C KMT2D Kras MLH1 MLL2 MSH2 MSH6 NF1 NOTCH2 Nras Pdgfra PIK3CA PMS2 RB1 SMARCA4 STAG2 TP53 TSC1  Prostate: MSI TMB APC AR ATM Braf BRCA1BRCA2CDK12CTNNB1 Egfr EPCAM HRAS Idh1 Idh2 JAK1 Kit KMT2A KMT2C KMT2D KRAS MGA MLH1 MSH2 MSH6 NF1 Nras Pdgfra PIK3CA PMS2 PTEN RB1 SPOP TP53  Melanoma: MSI TMB BRAF BRCA1 BRCA2 CDKN2A CTNNB1 DCC Egfr EPCAM EPHA7 ERBB4 HRAS Idh1 Idh2 Kit KMT2C KMT2D KRAS MEN1 MET MLH1 MSH2 MSH6 NEB NF1 NOTCH1 NOTCH2 NRAS Pdgfra PMS2 PTEN ROS1 SPTA1 TP53
  • 16. Tumor-Specific Panels-Hematology • AML: DNMT3A FLT3-ITD FLT3-KD IDH2 NRAS PTPN11 IDH1 TET2 WT1 KRAS SRSF2 ASXL1 CEBPA SF3B1 TP53 NPM1 JAK2 KIT BRAF ATRX BCOR BCORL1 CBL CDH1 ERG ETV6 EZH2 FBXW7 GATA1 GATA2 GATA3 KMT2A PPM1D RUNX1 STAG2 PHF6 PDGFRA • MDS: DNMT3A FLT3-ITD FLT3-KD IDH2 NRAS PTPN11 IDH1 TET2 WT1 KRAS SRSF2 ASXL1 CEBPA SF3B1 TP53 NPM1 JAK2 KIT BRAF ATRX BCOR BCORL1 CBL CDH1 ERG ETV6 EZH2 FBXW7 GATA1 GATA2 GATA3 KMT2A PPM1D CALR MYD88 RUNX1 STAT3 STK11 TERT STAG2 MPL PDGFRA PDGFRB PHF6 • MPN: DNMT3A IDH2 NRAS PTPN11 IDH1 TET2 WT1 KRAS SRSF2 ASXL1 CEBPA SF3B1 TP53 NPM1 JAK2 KIT BRAF BCORL1 CBL CDH1 EZH2 PPM1D CALR MYD88 STAT3 TERT MPL PDGFRA PDGFRB CSF3R PTPN11 PDGFRA • ALL: ABL1 ASXL1 ATM BRAF FLT3 IDH1 IDH2 IKZF1 JAK1 JAK2 KIT KRAS NOTCH1 NRAS PAX5 Pdgfra RUNX1 TP53 Fusion/Expression: ABL1 ABL2 ATF7IP CBL CENPC CRLF2 CSF1R EPOR FGFR1 FLT3 IL2RB JAK1 JAK2 LYNTYK2 MYH9 NTRK1,2,3 PCM1 PDGFRa PDGFRb PTK2B RCSD1 TSLP • DLBCL: GCB vs ABC Double Hit APC ARID1A ARID1B ASXL1 ATM B2M BIRC3 Braf BTK CARD11 CD79B CREBBP EP300 EZH2 IDH1 IDH2 KMT2D KRAS MYC MYD88 NFKBIA NOCH1 NOTCH1 NOTCH2 NRAS PIM1 RUNX1 SF3B1 SMARCA4 SOCS1 SPOP STAT3 TET2 TP53 Fusion/Expression: BCL2 MYC KI67 CD274 CD19 CD79A CD79B PAX5 BCL6 CREBBP IKZF2 CXCR2 MALT1
  • 17. Advantages of working with GTC Customization Ability to adapt to your needs Comprehensive reporting Analysis of DNA & RNA, TMB, MSI, recommended therapy and clinical trial data Affordability Complete cancer genomic profiling for $1,500 - $2,000 Turn around time Reporting results in 7 days Quality Advanced technology, new chemistry, increased sensitivity, AI and deep learning
  • 18. Diagnostic Service Our diagnostic service provides community access to advanced genomic testing and supports members, non-members, clinical trials, research and development needs. Non-Member Service: • Reference lab support with NGS • Direct ordering and reporting at non-member pricing • Access to complete cancer genomic and immunological profiling • Third-party billing capabilities Clinical Trials: • Companion testing and translational studies
  • 19. Logistics, Billing and Reimbursement  Xifin Lab Information System - orders and results via web  Interface capabilities  Client bill or Third-party billing capabilities  GTC will bill insurance companies directly as an independent service provider and work with the payers to process claims for cost of testing.  Reimbursement varies depending on carrier and coverage type, but GTC will work with insurance provider to file appeals and pursue coverage.  GTC will work to limit patient financial responsibility  Financial flexibility programs
  • 20. Differentiating Factors Innovation and collaboration Access to outcome data Integrating AI with interpretation of DNA an RNA data