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Optimizing the Output of Your Molecular Pathology Laboratory
- 1. 1 | April 24, 2018www.pieriandx.comwww.pieriandx.com BG Jones Senior Vice President, Business Development Optimizing the Output of Your Molecular Pathology Laboratory With the Right Mix of Technology and Services
- 2. 2 | April 24, 2018www.pieriandx.com Webinar Topics 1 3 4 Industry Trends and Challenges Actionable Intelligence Complete Clinical Genomics Solutions 2 PierianDx Customer Experiences
- 3. 3 | April 24, 2018www.pieriandx.com Industry Trends & Challenges
- 4. 4 | April 24, 2018www.pieriandx.com Strong growth underway Molecular diagnostic market size is projected to reach $10.12 Billion from $6.54 Billion in 2016, at a CAGR of 9.1%. As most diagnostic tests are performed in-house, the hospital & academic laboratories segment is expected to dominate the market. Source: ReportsnReports Molecular Diagnostics Market In-House Testing 2016 Clinical genetic testing labs US Market 2017 NGS Testing 272 5.5 MM Clinical genetic tests conducted $6.5B $10.1B 2021 Global oncology based molecular diagnostics market is expected to reach $3.39 Billion by 2022. Sequencing is estimated to be the fastest growing segment with CAGR estimated at over 19%. Source: Grand View Research Next Generation Sequencing Source: Epstein Health Trends - Market Size 1.1 MM NGS tests conducted
- 5. 5 | April 20, 2018www.pieriandx.com Industry milestones and trends The Inflection Point CMS finalized a National Coverage Determination that covers diagnostic laboratory tests using Next Generation Sequencing (NGS) for patients with advanced cancer (i.e., recurrent, metastatic, relapsed, refractory, or stages III or IV cancer). CMS.gov NGS Reimbursement CMS National Coverage Gene therapy Kyrmriah is the first gene therapy approved in the US, to treat children with advanced leukemia. Immunotherapy Merck’s Keytruda is the first immunotherapy treatment approved for all solid tumors based on a genomic biomarker. FDA Approval Sep’17 Aug’17 Nov’17 Nov’17 Somatic cancer tests Oncomine Dx, MSK-IMPACT, and FoundationOne CDx are the first NGS tumor profiling assays to gain FDA approval. Mar’18 Jun’17
- 6. 6 | April 24, 2018www.pieriandx.com In-House Testing NGS Processing Challenges Amount of data to curate and interpret from publications Rapidly changing therapies, guidelines, clinical trials Scarcity of genomic analysts Dynamic workflow needed Growing number of assays from multiple vendors BM Good, Genome Biology 2014
- 7. 7 | April 24, 2018www.pieriandx.com Interpretation of the clinical significance of genomic alterations remains the most severe bottleneck preventing the realization of personalized medicine in cancer. Organizing knowledge to enable personalization of medicine in cancer. Genome Biology 2014 In-House Testing Interpretation Bottleneck ‟ BM Good, Genome Biology 2014
- 8. 8 | April 24, 2018www.pieriandx.com PierianDx Overview
- 9. 9 | April 24, 2018www.pieriandx.com Pioneers of Precision Medicine Leaders in Clinical Genomics www.pieriandx.com Originated at Washington University in 2011 65+ Employees 45+ Customers in Sharing Network 25+ Validated Assays 7,800+ Shared Clinical Interpretations CLIA Certified, CAP Distributive Model 9 | April 24, 2018
- 10. 10 | April 24, 2018www.pieriandx.com Prev: Professor and Director at Washington University Curr: CAP Molecular Oncology Committee, Genomic Medicine Resource Committee, CAP Inspector Rakesh Nagarajan, MD, PhD Chief Executive Officer Biomedical Informatics Clinical Leadership Experience Matters Prev: Senior Medical Director GE-Clarient, Roche Molecular Systems, MD Anderson Shalini Verma, MD, FCAP Chief Medical Officer Molecular Pathology Prev: GM, GeneInsight at Sunquest Information Systems Chris Callahan, MBA Chief Commercial Officer Commercial Growth www.pieriandx.com Prev: Director Policy/Finance, NIH, Mass. Gen. Director of Clinical Operations, Washington University Andy Bredemeyer, PhD Director, Customer Operations Clinical Operations
- 11. 11 | April 24, 2018www.pieriandx.com Our Partners Innovators in Precision Medicine Top 50 Cancer Hospitals* Leverage the expertise of your peers and pioneers in somatic oncology. * 2018 US News & World Report Top 50 Cancer Hospitals.
- 12. 12 | April 24, 2018www.pieriandx.com Precision Oncology Success Study “Working with PierianDx has been an ideal partnership. They have been with us since the early onset of our program, providing both the technology and services that allowed us to ramp our program much faster.” — Dr. Anthony Magliocco Exec. Director, Esoteric Laboratory Services #18 2 NGS tests go live 1st patient cases run Moffitt partners with PierianDx PierianDx Lab Services added, increases Moffitt’s capacity Interpretation Services added NGS informatics upgraded 1st clinical TruSight™ Tumor 170 assay goes live (Moffitt NGS STAR) #9 www.pieriandx.com May 2014 Oct 2014 Nov 2015 Jan 2016 Jan 2017 Mar 2018
- 13. 13 | April 24, 2018www.pieriandx.com Complete Clinical Genomics Solutions
- 14. 14 | April 24, 2018www.pieriandx.com An Integrated Approach Laboratory Enablers Laboratory Services Turnkey, validated assays and informatics. Minimizes expense of implementation. Clinical Genomics Workspace All-in-one informatics and reporting software. Seamlessly integrated with EMR and Lab IS. Medical & Scientific Services Complete clinical support Experienced team to fast-track growth Content Sharing Network The largest opt-in content sharing network Greater precision in advanced cancer care.
- 15. 15 | April 24, 2018www.pieriandx.com Integrated Platform Complete Clinical Support ✓PierianDx Solutions Outreach, Planning & Assay Validation Sequencing Variant Calling (Bioinformatic Pipelines) Variant Annotation & Classification Data Visualization & QC Metrics Final Report & Medical Director Sign- out Data Integration EMR, 3rd Party People SoftwareWet Lab Clinical Interpretation & Reporting ✓✓ ✓✓ ✓ ✓ ✓ ✓
- 16. 16 | April 24, 2018www.pieriandx.com All Bases Covered Implemented Assays Assay Vendor Variant Types Input Files Amplicon VariantPlex Myeloid Archer SNVs and indels TSV from Archer VariantPlex BRCA1/BRCA2 Archer SNVs and indels VCF, BAM,BAI TruSight Myeloid Illumina SNVs and indels FASTQ, BAM, VCF TruSight Tumor 15 Illumina SNVs and indels FASTQ, BAM, VCF TruSight Tumor 26 Illumina SNVs and indels FASTQ, BAM, VCF TruSeq Cancer Amplicon (TSCA) Illumina SNVs and indels FASTQ, BAM, VCF BRCA1/BRCA2 (AFP2 assay) Illumina SNVs and indels FASTQ, BAM, VCF Oncomine (OCA) v2/3 Thermo Fisher SNVs, indels, CNVs, fusions BAM, VCF, BAI Ion AmpliSeq™ Cancer HotSpot Thermo Fisher SNVs and indels BAM, VCF, BAI Hybridization Capture Agilent probes Agilent SNVs, indels, fusions FASTQ, BAM, VCV Agilent/IDT probes Agilent/IDT SNVs, indels, fusions FASTQ, BAM, VCF TruSight Tumor 170 Illumina SNVs, indels, CNVs, fusions BAM, VCFs, CSV TruSight Cancer Illumina SNVs and indels FASTQ, BAM, VCF Ion AmpliSeq™ Inherited Cancer Thermo Fisher SNVs and indels VCF, BAM, BAI Haloplex Molecular barcodes/UMIs Agilent Haloplex Technology Agilent SNVs and indels FASTQ, BAM, VCF Somatic Fusions FusionPlex ALK/RET/ROS Archer Fusions FASTQ, BAM TruSight RNA fusion Illumina Fusions FASTQ, BAM, VCF Whole Exome Clinical Exome Agilent SureSelect Agilent SNVs and indels FASTQ, BAM TruSight One Illumina SNVs and indels FASTQ, BAM, VCF
- 17. 17 | April 24, 2018www.pieriandx.com REF Call Filtering Splice Variant Filter Re- Classification Sequence Alignment Variant Identification CNV Conversion Fusion Identification VCF Tag Display Primary Variant Filter Panel Filters Medical Interpretation Therapies Clinical Trials Auto Classification Case Accessioning CGW Pipeline CGW Panel Interpretation Services Review Patient Data Run QC DNA Only RNA Only DNA/RNA Lung Subpanel GIST Subpanel CNS Subpanel Colorectal Subpanel Melanoma Subpanel All Genes Review Case Data DNA QC Report Fastq DNA BAM RNA BAM DNA/RNA BAM Raw Variant Calls Final VCF RNA QC Report Draft Report Final Report Data Generation Procedure Selection Auto Interpretation Variant QC HGVS Annotation PierianDx + Illumina TST 170 Workflow
- 18. 18 | April 24, 2018www.pieriandx.com REF Call Filtering Splice Variant Filter Re- Classification Sequence Alignment Variant Identification CNV Conversion Fusion Identification VCF Tag Display Primary Variant Filter Panel Filters Medical Interpretation Therapies Clinical Trials Auto Classification Case Accessioning CGW Pipeline CGW Panel Interpretation Services Review Patient Data Run QC DNA Only RNA Only DNA/RNA Lung Subpanel GIST Subpanel CNS Subpanel Colorectal Subpanel Melanoma Subpanel All Genes Review Case Data DNA QC Report Fastq DNA BAM RNA BAM DNA/RNA BAM Raw Variant Calls Final VCF RNA QC Report Draft Report Final Report Data Generation Procedure Selection Auto Interpretation Variant QC HGVS Annotation PierianDx + Illumina TST 170 Workflow
- 19. 19 | April 24, 2018www.pieriandx.com REF Call Filtering Splice Variant Filter Re- Classification Sequence Alignment Variant Identification CNV Conversion Fusion Identification VCF Tag Display Primary Variant Filter Panel Filters Medical Interpretation Therapies Clinical Trials Auto Classification Case Accessioning CGW Pipeline CGW Panel Interpretation Services Review Patient Data Run QC DNA Only RNA Only DNA/RNA Lung Subpanel GIST Subpanel CNS Subpanel Colorectal Subpanel Melanoma Subpanel All Genes Review Case Data DNA QC Report Fastq DNA BAM RNA BAM DNA/RNA BAM Raw Variant Calls Final VCF RNA QC Report Draft Report Final Report Data Generation Procedure Selection Auto Interpretation Variant QC HGVS Annotation PierianDx + Illumina TST 170 Workflow
- 20. 20 | April 24, 2018www.pieriandx.com REF Call Filtering Splice Variant Filter Re- Classification Sequence Alignment Variant Identification CNV Conversion Fusion Identification VCF Tag Display Primary Variant Filter Panel Filters Medical Interpretation Therapies Clinical Trials Auto Classification Case Accessioning CGW Pipeline CGW Panel Interpretation Services Review Patient Data Run QC DNA Only RNA Only DNA/RNA Lung Subpanel GIST Subpanel CNS Subpanel Colorectal Subpanel Melanoma Subpanel All Genes Review Case Data DNA QC Report Fastq DNA BAM RNA BAM DNA/RNA BAM Raw Variant Calls Final VCF RNA QC Report Draft Report Final Report Data Generation Procedure Selection Auto Interpretation Variant QC HGVS Annotation CGW Pipeline PierianDx + Illumina TST 170 Workflow
- 21. 21 | April 24, 2018www.pieriandx.com CGW Pipeline REF Call Filtering Splice Variant Filter Re- Classification Sequence Alignment Variant Identification CNV Conversion Fusion Identification VCF Tag Display Primary Variant Filter Panel Filters Medical Interpretation Therapies Clinical Trials Auto Classification Case Accessioning CGW Pipeline CGW Panel Interpretation Services Review Patient Data Run QC DNA Only RNA Only DNA/RNA Lung Subpanel GIST Subpanel CNS Subpanel Colorectal Subpanel Melanoma Subpanel All Genes Review Case Data DNA QC Report Fastq DNA BAM RNA BAM DNA/RNA BAM Raw Variant Calls Final VCF RNA QC Report Draft Report Final Report Data Generation Procedure Selection Auto Interpretation Variant QC HGVS Annotation PierianDx + Illumina TST 170 Workflow
- 22. 22 | April 24, 2018www.pieriandx.com CGW Pipeline REF Call Filtering Splice Variant Filter Re- Classification Sequence Alignment Variant Identification CNV Conversion Fusion Identification VCF Tag Display Primary Variant Filter Panel Filters Medical Interpretation Therapies Clinical Trials Auto Classification Case Accessioning CGW Pipeline CGW Panel Interpretation Services Review Patient Data Run QC DNA Only RNA Only DNA/RNA Lung Subpanel GIST Subpanel CNS Subpanel Colorectal Subpanel Melanoma Subpanel All Genes Review Case Data DNA QC Report Fastq DNA BAM RNA BAM DNA/RNA BAM Raw Variant Calls Final VCF RNA QC Report Draft Report Final Report Data Generation Procedure Selection Auto Interpretation Variant QC HGVS Annotation PierianDx + Illumina TST 170 Workflow
- 23. 23 | April 24, 2018www.pieriandx.com Interpretation Services The PierianDx Advantage Collaboration Consider our team an extension of your team. The SOP we follow is developed in collaboration with our clients for our clients to meet their unique needs. Clinical Content 100% clinically curated content (vs. research) Use our written interpretations and all our clinical content to sign-out cases more efficiently now and in the future. Our Team is Your Team 30+ variant analysts with medical + scientific expertise. Includes PhDs and MDs trained at Johns Hopkins, MD Anderson, Tufts University, University of Pittsburgh, University of Texas, Penn State University, and Sanford-Burnham. Communication Have a question or need to relay extra info about a complex case? Enjoy direct access to our interpretive services director and medical director* as needed. Available for Tumor Board. * Medical Director Review and Medical Director Signout available within Tier II and Tier III service levels. Integrated Workflow
- 24. 24 | April 24, 2018www.pieriandx.com Planning, Assay Selection Foundation for Success Planning ■ Initial Consultation ■ Assess feasibility of business plan ■ Share best practices ■ Design implementation roadmap ■ Planning ■ Meetings with clinical leadership ■ Develop quarterly assay portfolio ■ Share best practices and planning ■ Operational Preparation ■ Establish method development ■ Provide CLIA and CAP assistance ■ Lab workflow for NGS testing. Assay Selection ■ Turnkey Panel Assessment ■ Cancer Type Selection ■ Panel Assessment ■ Assay Recommendation ■ Custom Assay Design ■ Cancer Type Selection ■ Evidence based Panel Design ■ Target Gene List ■ Order Custom Panel Design with Reagent Vendor Planning ■ Initial Consultation ■ Assess feasibility of business plan ■ Share best practices ■ Design implementation roadmap ■ Planning ■ Meetings with clinical leadership ■ Develop quarterly assay portfolio ■ Share best practices and planning ■ Operational Preparation ■ Establish method development ■ Provide CLIA and CAP assistance ■ Lab workflow for NGS testing.
- 25. 25 | April 24, 2018www.pieriandx.com Trusted Assay Validation Services Accelerate Your Go-Live NGS Assay Validation Support Development of draft validation plan Assay familiarization and optimization Validation analyses and data review Analytical sensitivity and specificity Precision concordance, reproducibility QC references, exon/hotspot coverage Sample procurement ✓ ✓ ✓ ✓ ✓ ✓ ✓ ✓ ✓ Case Study: Moffit STAR 1st Clinically Validated and Live TST 170 Assay PierianDx was instrumental in Moffitt’s validation and implementation of TST170. We continue to work with Moffitt and other Sequoia group members to optimize workflows and validate TMB and MSI. Report, requisition & consent forms CAP/CLIA compliant documentation
- 26. 26 | April 24, 2018www.pieriandx.com Physician Engagement Education & Awareness NGS Fast Forward Program ■ Fast Forward Program Guide ■ Physician Outreach Tools ■ Assay Spec Sheet ■ Sample Report ■ Assist with Requisition Form ■ Available Insight Papers ■ Participation in Physician Kick-off Meeting ■ Molecular Tumor Board Participation ■ Onsite Grand Rounds by PierianDx Medical Director
- 27. 27 | April 24, 2018www.pieriandx.com Actionable Intelligence
- 28. 28 | April 24, 2018www.pieriandx.com Cloud-Based Technology Integration API, HL7 - order entry LDAP - certificate for authentication systems Automated NGS data transfer API - Discrete data to Decision Support App, EDW API, HL7 - PDF report transfer to EMR Hospital Lab API - Discrete data to 3rd party apps
- 29. 29 | April 24, 2018www.pieriandx.com Actionable Intelligence Drug Disease Drug Class Knowledge Source Management Impact Drug Impact Prognostic Impact Clinical Trials in US KnowledgeSpace ■ ASCO, NCCN guidelines ■ Public sources ■ Curated knowledge sources ■ FDA therapies, clinical trials ■ Published literature ■ Medical interpretations from PierianDx and shared by customers. Machine learning. Human acumen. Collaborative network. 29 | April 20, 2018www.pieriandx.com
- 30. 30 | April 24, 2018www.pieriandx.com Cumulative Patient Care Case Volume KnowledgeSpace Growth Production Stats 150+ Unique NGS Panels 80+ Molecular Pathologists 1,130+ Diseases tested 1,080+ Somatic genes
- 31. 31 | April 24, 2018www.pieriandx.com Analytic Insights ■ Lab Management ■ NGS Processing ■ Panel Insights ■ Disease Insights ■ Duration Insights ■ Notifications ■ Optimal Staffing KnowledgeSpace Insights Production Analytics
- 32. 32 | April 24, 2018www.pieriandx.com Webinar cs 1 3 4 Positive Industry Trends with Challenges Actionable Intelligence Delivers Value to the Enterprise Complete Clinical Genomics Solutions are Required 2 Your Peers are Innovating with Precision Medicine Summary Topics Covered 32 | April 24, 2018
- 33. 33 | April 24, 2018www.pieriandx.com cs Our Business is Your Business How May We Assist? Schedule a free consultation with a clinical genomics expert Accelerate your assay validation Improve the quality of your genomic reports Optimize your clinical workflow Increase your genomic testing volume
- 34. 34 | April 24, 2018www.pieriandx.com Thank You Q&A BG Jones SVP, Business Development BGJones@PierianDx.com
Editor's Notes
- Learn how to develop the right approach to planning and implementing molecular testing in your lab. Be introduced the spectrum of PierianDx services that complement our technology, including: precision medicine planning, assay selection, physician engagement, validation, technology integration, interpretation and lab services. Understand the benefits of PierianDx's Actionable Intelligence engine, a constantly learning knowledgebase of millions of biomedical findings. Discover real-world examples of how academic medical centers, health systems, and cancer centers have implemented best practices to expand their programs and improve outcomes for patients.
- Need help? Check out our Building a Backable Team module and weekly strategy session.
- Karen
- Karen
- Add in pipeline box about HGVS annotation
- Add in pipeline box about HGVS annotation
- Add in pipeline box about HGVS annotation
- Add in pipeline box about HGVS annotation
- Add in pipeline box about HGVS annotation
- Add in pipeline box about HGVS annotation