The new Leeds Solid Tumour Molecular Oncology Diagnostics Service. Paul Roberts, Genetics, Leeds
|
|
- Reginald Anderson
- 5 years ago
- Views:
Transcription
1 The new Leeds Solid Tumour Molecular Oncology Diagnostics Service Paul Roberts, Genetics, Leeds
2 Molecular Oncology services pre-2013 DNA lab Germline cancer Cytogenetics lab FISH, cell culture, molecular testing- lung cancer, soft tissue tumours, CNS tumours Molecular Pathology Molecular testing - breast cancer, colorectal cancer, whipples, selected viruses, MSI Cancer Genomics Various molecular testing with molecular pathology, including colorectal cancer
3 Total tumour testing FFPE FISH EGFR KRAS IDH MGMT GIST ALK HER2 MSI Cell culture
4 How to take molecular diagnostics forward with such a split service? Timeline 2011 Dialogue commenced with Pat Harnden, Paul Roberts & Carol Chu Ad hoc meetings to discuss existing services 2012 Request to pathology directorate management to look at molecular oncology SIMP team facilitated molecular oncology meetings Group identified from key stakeholders
5 RCPath model for molecular pathology
6 Upper Normandy somatic genetic tumour platform
7 DH model for molecular diagnostic testing Cancer molecular pathology proposed structure and fit to existing and new groups Existing group New group National Horizon Scanning Centre Royal College Pathologists Clinical Molecular Genetics Society NCRI Clinical Study Groups Topic identification Group NICE Medical Technology Advisory Programme NICE Diagnostics Oversight by Steering Group UK NEQAS NHS Commissioning Board Cancer Registry and NCIN Quality assurance NHS, academic and private labs Test and clinical results Patients Referring Hospitals
8 Stakeholders Genetics Cytogenetics Business manager Molecular Pathology Histopathology Genomics Translation Pathology Management Opps manager Clinical director Medical Oncology Cancer Genomics
9 Remit of group Clive Mulatero chair Discuss existing work Unify services Where to do the work How to bring in new work What technologies Staff roles Business case Dec 2011 business case to PCT rejected May 2013 new business case for LTHT
10 Options for molecular oncology service Option 1 Continue with a piecemeal approach with services offered by different departments Option 2 Send all tumour genetic testing to a provider outside LTHT Option 3 Develop and consolidate a single best in class LTHT diagnostic molecular oncology facility
11 Risk analysis of proposal Option Financial Clinical Other Mitigation 1. Continue with piecemeal approach 2. Outsource to different provider 3. Develop Diagnostic Molecular Oncology facility in LTHT Equipment duplication Several 100K cost to LTHT to send work out. Missed opportunity for additional income Individual staff cost. Increased reagent cost needed in budget Lack of service continuity. Service disjointed. Misses opportunity to consolidate staffing Loss of status as centre of excellence. Loss of R&D partnerships. Less effective MDTs All stakeholders need to sign up No clear contact lead for service users. No clear outward face of the service Detrimental effect on genomic advances, and damages efforts at closer pathology integration Will need to repatriate testing that is delivered outside LTHT. Need to secure mechanism to pay for tests Has worked well so far and enhanced reputations of individual departments involved Some centres are already outsourcing this work Already UK leaders in NGS technology. Molecular Oncology Diagnostic Group already in place, and structure of staffing and Board has been worked out
12 Where are we now? May 2013 HER2 testing moved onto DDISH into histopath Molecular pathology scientific staff & genetics oncology team unify as one oncology team Scientific staff based in genetics Lead scientist for technical development All molecular oncology testing done by same team Sharing of equipment Identification of scientific director, lead pathologist, & operational manager Ongoing NGS validation
13 R&D Trials Molecular Oncology Board Clinical Directors, Oncology leads Histopathology lead, Scientific director, Scientific operational lead Scientific/Technology lead, R&D/Genomics Horizon scanning UKNEQAS Molecular Oncology Operational team Scientific director Scientific operational lead Hisopathology lead Scientific, technical & other staff Sample prep & Quality assessment Technology development & implementation Translational Genomics team Test request & sample production FISH Sequencing (NGS, etc) PCR Referring hospitals (clinicians) Informatics Patients Test results and reports Authorised Integrated into clinical report by histopathology & oncology
14 Staffing Scientific director Paul Lead Histopathologist Heike Operational lead Helen Lead scientist Technical development Dave Scientific team Genetics + Molecular Pathology
15 Create new name Going forward Tests & reports on one LIMS by one team Purchases from single budget Notify service users Update website Educational visits to other Trusts LTHT provider and Yorkshire cancer network solution Repatriate testing Bring in new tests from outside LTHT Develop molecular oncology board Use lessons learned to assist with integration of other molecular services
16 Molecular Oncology board Strategic Horizon scanning Business cases Implementation of new tests & technologies Core members plus ad hoc representation from interested parties Link to LTHT and pathology management for service development & implementation
17 The tasks ahead Resolving issues with data entry Finance Staffing Reporting Histopathologists input Convincing the network Participation in stratified medicine phase 2 Linking with R&D & University Service continuity A new building?
18 Service delivery Generic referral form Test request per tumour type FFPE new currency Test panels for affordability Working to 5 day TATs Integration to histopathology Technology development Cancer Genomics?R&D
19 Cytogenetics website Home A-Z of Services Cytogenetics Cytogenetics What we do Postnatal Microarrays Prenatal Haematological Disorders Solid Tumours Molecular Oncology Molecular Pathology (other) Referral Cards Ordering Medium Frequently asked questions Contact us
20 Total solid tumour testing tests
21 Estimated unmet need for molecular testing Tumour type Non-small cell lung cancer Colorectal cancer Gastrointestinal tumour Gene mutation Associated drug treatment No. tests EGFR Gefitinib 7,300 (+/- 10%) KRAS Cetuximab 4,380 (+/- 5%) KIT and Imatinib 465 PDGFRA (+/- 5%) No. patients requiring test/year 12,500 (+/- 20%) 3,525 12,800 Less than 500 Estimated unmet need (tests/year) c. 5,000 0 c8,600 Uncertain Breast cancer HER2 Herceptin 7,500 (+/- 20%) 8,000 None
22 Present tests Breast Cancer type Example of tests performed Number of tests performed in England Estimated cost ( million) Reliability of data HER2 ISH to determine eligibility for targeted anti-her2 drug therapy 7.5k 1.1 Medium (+/- 20%) Lung EGFR mutation testing to determine eligibility for targeted drug therapy e.g. EGFR inhibitors 7.3k 1.1 High ( 90%) Bowel Other childhood cancers Muscle, bone and soft tissue Mutation testing to determine eligibility for targeted drug therapy e.g. KRAS mutation and KIT inhibitors 4.8k KRAS: 4380 KIT: High (+/-5%) Mutation detection to aid diagnosis and guide chemotherapy 1.0k 0.2 Medium to high Mutation testing to aid pathologists in making the diagnosis 1.0k 0.3 unknown Other (including brain, melanoma of the eye) Mutation detection to guide chemotherapy 1.4k 0.4 unknown Total 22.9k 3.8
23 Costs of testing Tumour Site Molecular test Associated treatment Tests 2010/11 Upper estimate of total demand Estimated Cost/test ( ) Total cost ( ms) NSCL Colorectal Cancer Gastrointestinal stromal tumour Breast Cancer EGFR Gefitinib 7,300 12, KRAS Cetuximab 4,380 12, KIT & PDGFRA Imatinib HER2 Herceptin 7,500 8, TOTAL 5.0
24 Molecular targets Imatinib (Gleevec/Glivec) Gastrointestinal stromal tumour KIT (CD117) Vemurafenib (Zelboraf) Malignant melanoma Advanced melanoma with BRAF V600E mutation Panitumumab (Vectibix) Colorectal cancer EGFR expressing, metastatic colorectal carcinoma, non-mutated (wild-type) KRAS Crizotinib (Xalkori) Lung cancer Advanced non-small cell lung cancer (NSCLC) with an ALK gene translocation Cetuximab (Erbitux) Colorectal cancer EGFR+ metastatic colorectal cancer with wild-type KRAS, advanced head/neck cancer Erlotinib (Tarceva) Lung cancer Advanced NSCLC (EGFR+ in the EU), advanced pancreatic cancer Gefitinib (Iressa) Lung cancer Advanced NSCLC (EGFR mutation positive in the EU) Trastuzumab (Herceptin) Breast cancer HER2+ breast cancer, advanced gastric or gastro-oesophageal junction adenocarcinoma EMA Approved EMA approved EMA Approved Under review by EMA EMA Approved NICE Approved for a subset of patients with metastatic colorectal cancer EMA Approved EMA Approved NICE approved EMA Approved NICE approved
25 Emerging therapies Cancer type Therapy class Associated gene test(s) Colorectal EGFR inhibitor KRAS/BRAF mutations Malignant melanoma Drug Erlotinib* IGF1R inhibitor IGF1R mutations Dalotuzumab (MK- 0646) Cixutumumab (IMC-A12) C-MET inhibitor EGFR/KRAS mutation OSI-906 ARQ-197 MEK inhibitor BRAF MSC B I/II mtor inhibitor PI3KCA / PTEN mutations Everolimus (Afinitor)* BRAF inhibitor BRAF / NRAS GSK III MEK inhibitor BRAF mutations GSK III c-kit inhibitor KIT mutations Imatinib mesylate* II Pancreatic IGF1R inhibitor IGF1R mutations Ganitumab (AMG- 479) Gastric mtor Inhibitor PTEN / PIK3CA / Akt mutations Everolimus* Phase of current clinical trials III II I II II II III
26 Emerging therapies Breast mtor inhibitor PIK3CA / PTEN mutation PARP inhibitor BRCA1 / BRCA2 mutation PI3K inhibitor PI3KCA / PTEN / Akt mutations NSCLC EGFR inhibitor EGFR / KRAS mutations c-met Inhibitor EGFR / KRAS mutations Everolimus (Afinitor)* Ridaforolimus Temsirolimus (CCI- 779) Iniparib Veliparib (ABT-888) AG XL-147 BEZ-235 PX-866 BIBW-2992 (Tovok, Afatinib) ARQ-197 MetMAb (RG-3638) IGF1R inhibitor IGF1R mutations Dalotuzumab (MK- 0646) Ovarian PARP inhibitor BRCA1 / BRCA2 mutations Iniparib (BSI-201) PARP inhibitor EGFR mutations Erlotinib III III II I/II III II I/II III III II II II
27 Are we ready to meet the demand?
28 ALK and lung cancer 6,709 patients (approx 20%) diagnosed with small cell lung cancers 32, 546 lung cancer patients per annum 26,836 patients (80%)with non small cell lung caner 7,811 (approx 30%) patients present with locally/regionally advanced disease 7,811 (approx 30%) present with locally advanced disease 10,414 (approx 40%) patients with advanced metastatic disease 3,905 (approx 50%) of these patients will have surgery Tested for ALK status for prescription of crizotinib
29 Estimated US cost for cancer testing
30 Disease Test type and method Tissue Test with targeted treatments Lung cancer EGFR Mutation analysis - RQPCR P ALK gene rearrangement - FISH GISTs Mutation analysis ckit, PDGFRA Sanger sequencing P Colorectal cancer KRAS Mutation analysis - Pyrosequencing P Sarcoma diagnostics Alveolar rhabdomyosarcoma Ewing s sarcoma tumours FOXO1 gene rearrangement FISH FOXO1 - PAX gene f u s i on FISH MYCN amplification FISH PAX7 & PAX3 rearrangements - FISH EWSR1 gene rearrangement FISH EWSR1 - FLI1 gene fusion FISH EWSR1 - ERG1 gene fusion - FISH DSRCT EWSR1 gene rearrangement - FISH Clear cell sarcoma EWSR1 gene rearrangement - FISH Angiomatoid fibrous histiocytoma EWSR1 gene rearrangement - FISH Extraskeletal myxoid chondrosarcoma EWSR1 gene rearrangement - FISH Other tumours with EWSR1 rearrangements EWSR1 gene rearrangement - FISH Myoepitheloid tumour Occasional myxoid liposarcoma Synovial sarcoma SYT gene rearrangement - FISH Liposarcoma MDM2 amplification FISH FUS - CHOP gene rearrangement FISH 13q deletion (spindle cell variant) - FISH P or f resh Spindle cell lipoma 13q14 loss - FISH Alveolar soft part tumour TFE3 gene rearrangement - FISH DFSP /giant cell fibroblastoma COLIA1 - PDGFB rearrangement - FISH Low grade fibromyxoid sarcoma FUS gene rearrangement - FISH Inflammatory myofibroblastic tumour ALK gene rearrangement - FISH Glioma diagnostics Grade II and III glioma IDH1 mutation analysis pyrosequencing 1p/19q dosage - FISH P P Grade IV glioma IDH1 mutation analysis pyrosequencing MGMT methylation analysis MS - MLPA P Other tests on request PTEN loss FISH EGFR amplification FISH RB1 loss FISH P16 loss - FISH Pilocytic astrocytoma KIAA BRAF fusion FISH or RT - PCR (in preparation) Other CNS tumours ATRT SMARCB1 deletion FISH or MLPA Medulloblastoma CMYC and MYCN amplification FISH P53 deletion/17q gain - FISH Meningioma 22q, 1p and 14q deletion - FISH Other tumour diagnostics Neuroblastoma MYCN amplification, 1p deletion, 11q deletion & 17q gain FISH Mesoblastic nephroma/congenital fibrosarcoma ETV6 gene rearrangement Other carcinomas Papillary renal cell carcinoma TFE3 gene rearrangement - FISH Mucoepidermoid carcinoma/hidradenoma MAML2 gene rearrangement - FISH Present testing
31 How to deliver multiple tests Gene panels Single platform Sample multiplexing Multiple cancers Other test types, eg germline Leeds solution NGS Mix germline & somatic cancer tests Speed up process Develop software solutions
32 It s complicated
Current and future applications of Molecular Pathology. Kathy Walsh Clinical Scientist NHS Lothian
Current and future applications of Molecular Pathology Kathy Walsh Clinical Scientist NHS Lothian Molecular Pathology in Solid tumours Cancer type Genes tested Purpose Associated treatments Non small cell
More informationCollaboration between CEQAS and UK NEQAS for Molecular Genetics Solid Tumour EQAs and variant interpretation
Collaboration between CEQAS and UK NEQAS for Molecular Genetics Solid Tumour EQAs and variant interpretation Dr Jenni Fairley Deputy Scheme Director (Molecular Pathology), GenQA, Edinburgh, UK From 1 st
More informationPredictive biomarker profiling of > 1,900 sarcomas: Identification of potential novel treatment modalities
Predictive biomarker profiling of > 1,900 sarcomas: Identification of potential novel treatment modalities Sujana Movva 1, Wenhsiang Wen 2, Wangjuh Chen 2, Sherri Z. Millis 2, Margaret von Mehren 1, Zoran
More informationImplementation of nation-wide molecular testing in oncology in the French Health care system : quality assurance issues & challenges
Implementation of nation-wide molecular testing in oncology in the French Health care system : quality assurance issues & challenges Frédérique Nowak - 21 october 2015 "Putting Science into Standards event:
More informationPersonalised cancer care Information for Medical Specialists. A new way to unlock treatment options for your patients
Personalised cancer care Information for Medical Specialists A new way to unlock treatment options for your patients Contents Optimised for clinical benefit 4 Development history 4 Full FIND IT panel vs
More informationDisclosures. An update on ancillary techniques in the diagnosis of soft tissue tumors. Ancillary techniques. Introduction
Disclosures An update on ancillary techniques in the diagnosis of soft tissue tumors. I have nothing to disclose. Andrew Horvai, MD, PhD Clinical Professor, Pathology Introduction Ancillary techniques
More informationStrandAdvantage Tissue-Specific Cancer Genomic Tests. Empowering Crucial First-Line Therapy Decisions for Your Patient
StrandAdvantage Tissue-Specific Cancer Genomic Tests Empowering Crucial First-Line Therapy Decisions for Your Patient Harness the power of precision medicine with StrandAdvantage Precision medicine in
More informationTransform genomic data into real-life results
CLINICAL SUMMARY Transform genomic data into real-life results Biomarker testing and targeted therapies can drive improved outcomes in clinical practice New FDA-Approved Broad Companion Diagnostic for
More informationNext Generation Sequencing in Clinical Practice: Impact on Therapeutic Decision Making
Next Generation Sequencing in Clinical Practice: Impact on Therapeutic Decision Making November 20, 2014 Capturing Value in Next Generation Sequencing Symposium Douglas Johnson MD, MSCI Vanderbilt-Ingram
More informationPatient Leader Education Summit. Precision Medicine: Today and Tomorrow March 31, 2017
Patient Leader Education Summit Precision Medicine: Today and Tomorrow March 31, 2017 Precision Medicine: Presentation Outline Agenda What is a Precision Medicine What is its clinical value Overview of
More informationThe Cancer Research UK Stratified Medicine Programme: Phases One and Two Dr Emily Shaw
The Cancer Research UK Stratified Medicine Programme: Phases One and Two Dr Emily Shaw Introduction The CRUK Stratified Medicine Programme: SMP1 rationale, design and implementation The role of the cellular
More informationDisclosures. An update on ancillary techniques in the diagnosis of soft tissue tumors. Ancillary techniques. Introduction
Disclosures An update on ancillary techniques in the diagnosis of soft tissue tumors. I have nothing to disclose. Andrew Horvai, MD, PhD Clinical Professor, Pathology Introduction Ancillary techniques
More informationMolecular pathology in soft tissue tumors. Sylvia Höller Pathologie
Molecular pathology in soft tissue tumors Sylvia Höller Pathologie When do we perform molecular testing? Morphology and IHC are not clearly fitting with an entity some translocations are entity specific
More informationExternal Quality Assurance in Genetics Laboratories
Genetics Quality and Accreditation workshop External Quality Assurance in Genetics Laboratories Farrah Khawaja Deputy Scheme Director UK NEQAS for Molecular Genetics The Royal Infirmary of Edinburgh Molecular
More informationKlinisch belang van chromosomale translocatie detectie in sarcomen
Translocations in sarcomas Klinisch belang van chromosomale translocatie detectie in sarcomen Judith V.M.G. Bovée, M.D., Ph.D. Department of Pathology Leiden University Medical Center RNA binding DNA binding
More informationMolecular Genetics of Paediatric Tumours. Gino Somers MBBS, BMedSci, PhD, FRCPA Pathologist-in-Chief Hospital for Sick Children, Toronto, ON, CANADA
Molecular Genetics of Paediatric Tumours Gino Somers MBBS, BMedSci, PhD, FRCPA Pathologist-in-Chief Hospital for Sick Children, Toronto, ON, CANADA Financial Disclosure NanoString - conference costs for
More informationMOLECULAR DIAGNOSTIC PROVISION IN WALES
MOLECULAR DIAGNOSTIC PROVISION IN WALES FOR TARGETED CANCER MEDICINES (SOLID TUMOUR) IN THE NHS A report for Cancer Research UK by Concentra September 2015 Molecular diagnostic provision in the NHS in
More informationCorporate Medical Policy
Corporate Medical Policy Molecular Analysis for Targeted Therapy for Non-Small Cell Lung File Name: Origination: Last CAP Review: Next CAP Review: Last Review: molecular_analysis_for_targeted_therapy_for_non_small_cell_lung_cancer
More informationDr C K Kwan. Associate Consultant, Queen Elizabeth Hospital, HKSAR Honorary member, Targeted Therapy Team, ICR, UK
HA Convention 2013 Dr C K Kwan MBChB, FRCR, FHKCR, FHKAM, MPM, CPI, MAppMgt(Hlth) Associate Consultant, Queen Elizabeth Hospital, HKSAR Honorary member, Targeted Therapy Team, ICR, UK To personalize cancer
More informationPersonalized Healthcare Update
Dr. Kai - Oliver Wesche Market Development Manager, Personalized Healthcare QIAGEN Personalized Healthcare Update Pioneering Personalized Medicine through Partnering TOMTOVOK BKM120 Zelboraf QIAGEN partners:
More informationPersonalised Healthcare. will it deliver? Bob Holland Head of Personalised Healthcare & Biomarkers Innovative Medicines AstraZeneca R&D
Personalised Healthcare x will it deliver? Bob Holland Head of Personalised Healthcare & Biomarkers Innovative Medicines AstraZeneca R&D Personalised Healthcare It is delivering! Bob Holland Head of Personalised
More informationBest of ASCO 2014 Sarcoma
Best of ASCO 2014 Sarcoma Robin L Jones Seattle Cancer Care Alliance University of Washington Fred Hutchinson Cancer Research Center Presentation Outline Overview progress made in sarcoma Highlight 2 trials
More informationSelecting the right patients for the right trials.
Selecting the right patients for the right trials. Paul Waring Professor of Pathology University of Melbourne June 21, 2011 RCPA Genetics short course Drug development challenges. Current model of drug
More informationCommissioning policies agreed by PCTs in Yorkshire and the Humber at Board meeting of YH SCG on December
Commissioning policies agreed by PCTs in Yorkshire and the Humber at Board meeting of YH SCG on December 17 2010. 32/10 Imatinib for gastrointestinal stromal tumours (unresectable/metastatic) (update on
More informationNeoTYPE Cancer Profiles
NeoTYPE Cancer Profiles Multimethod Analysis of 25+ Hematologic Diseases and Solid Tumors Anatomic Pathology FISH Molecular The next generation of diagnostic, prognostic, and therapeutic assessment NeoTYPE
More informationIntelliGENSM. Integrated Oncology is making next generation sequencing faster and more accessible to the oncology community.
IntelliGENSM Integrated Oncology is making next generation sequencing faster and more accessible to the oncology community. NGS TRANSFORMS GENOMIC TESTING Background Cancers may emerge as a result of somatically
More informationParticolarità molecolari delle neoplasie sarcomatose: Quale lezione biologica possiamo trarre per tutte le altre neoplasie?
Particolarità molecolari delle neoplasie sarcomatose: Quale lezione biologica possiamo trarre per tutte le altre neoplasie? Bruno Vincenzi, MD PhD Università Campus Bio-Medico di Roma Defining sarcoma
More informationOut-Patient Billing CPT Codes
Out-Patient Billing CPT Codes Updated Date: August 3, 08 Client Billed Molecular Tests HPV DNA Tissue Testing 8764 No Medicare Billed - Molecular Tests NeoARRAY NeoARRAY SNP/Cytogenetic No 89 NeoLAB NeoLAB
More informationNeoTYPE Cancer Profiles
NeoTYPE Cancer Profiles 30+ Multimethod Assays for Hematologic Diseases and Solid Tumors Molecular FISH Anatomic Pathology The next generation of diagnostic, prognostic, and therapeutic assessment What
More informationQIAGEN Complete Solutions for Liquid Biopsy Molecular Testing
QIAGEN Complete Solutions for Liquid Biopsy Molecular Testing Christopher Swagell, PhD Market Development Manager, Advanced Molecular Pathology QIAGEN 1 Agenda QIAGEN Solid Tumor Testing and Liquid Biopsy
More informationSureSelect Cancer All-In-One Custom and Catalog NGS Assays
SureSelect Cancer All-In-One Custom and Catalog NGS Assays Detect all cancer-relevant variants in a single SureSelect assay SNV Indel TL SNV Indel TL Single DNA input Single AIO assay Single data analysis
More informationEvolution of Pathology
1 Traditional pathology Molecular pathology 2 Evolution of Pathology Gross Pathology Cellular Pathology Morphologic Pathology Molecular/Predictive Pathology Antonio Benivieni (1443-1502): First autopsy
More informationNGS Gateway Lab Services
TM NGS Gateway Lab Services Accelerating Precision Medicine Design a Complete Genomic Testing Portfolio with Turnkey Assays About NGS Gateway Lab Services TM Designed to provide a gateway to your own in-house
More informationClinical Grade Genomic Profiling: The Time Has Come
Clinical Grade Genomic Profiling: The Time Has Come Gary Palmer, MD, JD, MBA, MPH Senior Vice President, Medical Affairs Foundation Medicine, Inc. Oct. 22, 2013 1 Why We Are Here A Shared Vision At Foundation
More informationNext generation diagnostics Bringing high-throughput sequencing into clinical application
Next generation diagnostics Bringing high-throughput sequencing into clinical application Leonardo A. Meza-Zepeda, PhD Translational Genomics Group Institute for Cancer Research Leonardo.Meza-Zepeda@rr-research.no
More informationThe linking of specific cancer genetic alterations to molecular targeted therapies is driving a new era of personalised medicine
The linking of specific cancer genetic alterations to molecular targeted therapies is driving a new era of personalised medicine Oncologica addresses this new era of precision medicine by exploiting state
More informationGENETIC TESTING FOR TARGETED THERAPY FOR NON-SMALL CELL LUNG CANCER (NSCLC)
CANCER (NSCLC) Non-Discrimination Statement and Multi-Language Interpreter Services information are located at the end of this document. Coverage for services, procedures, medical devices and drugs are
More informationIndividualized Cancer Therapy: Chemotherapy Resistance Testing before Therapy
Individualized Cancer Therapy: Chemotherapy Resistance Testing before Therapy 1 st st International Oncological Conference Wrocław, October 6 th, 2012 Dr. Frank Kischkel Individualized Cancer Therapy:
More informationFinancial disclosures
An update on immunohistochemical markers in mesenchymal neoplasms By Konstantinos Linos MD, FCAP, FASDP Assistant Professor of Pathology Geisel School of Medicine at Dartmouth Dartmouth-Hitchcock Medical
More informationAugust 17, Dear Valued Client:
August 7, 08 Re: CMS Announces 6-Month Period of Enforcement Discretion for Laboratory Date of Service Exception Policy Under the Medicare Clinical Laboratory Fee Schedule (the 4 Day Rule ) Dear Valued
More informationBrain tumours and NHS England
Brain tumours and NHS England Andrew Brodbelt Consultant Neurosurgeon and Division Clinical Director The Walton Centre NHS Foundation Trust, Liverpool NCRAS CNS tumours workshop April 12 th 2016. National
More informationClinical Validation of Cytocell Pathology Probes
Clinical Validation of Cytocell Pathology Probes Shivanand Richardson Specialized Technician Molecular Pathology Department of Pathology, University Medical Center Utrecht The Netherlands 5th annual Cytocell
More informationCharacterisation of structural variation in breast. cancer genomes using paired-end sequencing on. the Illumina Genome Analyser
Characterisation of structural variation in breast cancer genomes using paired-end sequencing on the Illumina Genome Analyser Phil Stephens Cancer Genome Project Why is it important to study cancer? Why
More informationSupplementary Online Content
Supplementary Online Content Kris MG, Johnson BE, Berry LD, et al. Using Multiplexed Assays of Oncogenic Drivers in Lung Cancers to Select Targeted Drugs. JAMA. doi:10.1001/jama.2014.3741 etable 1. Trials
More informationOHTAC Recommendation. Emerging Pharmacogenomic Tests. Presented to the Ontario Health Technology Advisory Committee in August, 2010
OHTAC Recommendation Emerging Pharmacogenomic Tests Presented to the Ontario Health Technology Advisory Committee in August, 2010 June 2011 OHTAC Recommendation: Pharmacogenomic Cusp/Horizon Scanning Issue
More informationRare Cancers. Andrew J. Wagner, MD, PhD Center for Sarcoma and Bone Oncology Dana-Farber Cancer Institute Sarcoma Patient Symposium October 15, 2017
Rare Cancers Andrew J. Wagner, MD, PhD Center for Sarcoma and Bone Oncology Dana-Farber Cancer Institute Sarcoma Patient Symposium October 15, 2017 Why should we care about Rare Cancers? Raise your hand
More informationNucleic Acid Testing - Oncology. Molecular Diagnosis. Gain/Loss of Nucleic Acid. Objectives. MYCN and Neuroblastoma. Molecular Diagnosis
Nucleic Acid Testing - Oncology Molecular Diagnosis Nucleic acid based testing in Oncology Gross alterations in DNA content of tumors (ploidy) Gain/Loss of nucleic acids Markers of Clonality Oncogene/Tumor
More informationGenetics Quality and Accreditation workshop Manchester 17 th May 2017
Genetics Quality and Accreditation workshop Manchester 17 th May 2017 Katrina Rack Oxford CEQAS What is CEQAS Types of schemes Scheme update Highlights 2016 Key recommendations CEQAS Background External
More informationMolecular Diagnosis. Nucleic acid based testing in Oncology
Molecular Diagnosis Nucleic acid based testing in Oncology Objectives Describe uses of NAT in Oncology Diagnosis, Prediction, monitoring. Genetics Screening, presymptomatic testing, diagnostic testing,
More informationMolecular genetic tests for access to targeted therapies in France in 2012
RESEARCH DECEMBER 2012 Molecular genetic tests for access to targeted therapies in France in 2012 C O L L E C T I O N Activity reports and assessments PREDICTIVE TESTS IN THE MOLECULAR GENETICS CENTRES:
More informationMolecular Diagnosis of Soft Tissue Tumors: Avoid Pitfalls
Molecular Diagnosis of Soft Tissue Tumors: Avoid Pitfalls Cristina Antonescu, MD Department of Pathology Memorial Sloan-Kettering Cancer Center, New York Overview I. When should we rely on the help of
More informationI. Diagnosis of the cancer type in CUP
Latest Research: USA I. Diagnosis of the cancer type in CUP II. Outcomes of site-specific therapy of the cancer type in CUP a. Prospective clinical trial b. Retrospective clinical trials 1 Latest Research:
More informationGenomic Medicine: What every pathologist needs to know
Genomic Medicine: What every pathologist needs to know Stephen P. Ethier, Ph.D. Professor, Department of Pathology and Laboratory Medicine, MUSC Director, MUSC Center for Genomic Medicine Genomics and
More informationLiquid biopsy: the experience of real life case studies
Liquid biopsy: the experience of real life case studies 10 th September 2018 Beatriz Bellosillo Servicio de Anatomía Patológica Hospital del Mar, Barcelona Agenda Introduction Experience in colorectal
More informationMolecular portraits/landscape of lung cancer in France
Molecular portraits/landscape of lung cancer in France Jean-Charles SORIA Frédérique NOWAK Fabien CALVO U981 2 Disclosure Slide Member of the SAB of the french NCI (INCA). Appointed by the Ministry of
More informationMEDICAL POLICY. SUBJECT: MOLECULAR PANEL TESTING OF CANCERS TO IDENTIFY TARGETED THERAPIES (Excluding NSCLC and CRC) EFFECTIVE DATE: 12/21/17
MEDICAL POLICY SUBJECT: MOLECULAR PANEL TESTING OF PAGE: 1 OF: 5 If a product excludes coverage for a service, it is not covered, and medical policy criteria do not apply. If a commercial product, including
More informationLooking Beyond the Standard-of- Care : The Clinical Trial Option
1 Looking Beyond the Standard-of- Care : The Clinical Trial Option Terry Mamounas, M.D., M.P.H., F.A.C.S. Medical Director, Comprehensive Breast Program UF Health Cancer Center at Orlando Health Professor
More informationPersonalized Medicine: Lung Biopsy and Tumor
Personalized Medicine: Lung Biopsy and Tumor Mutation Testing Elizabeth H. Moore, MD Personalized Medicine: Lung Biopsy and Tumor Mutation Testing Genomic testing has resulted in a paradigm shift in the
More informationLung Cancer Genetics: Common Mutations and How to Treat Them David J. Kwiatkowski, MD, PhD. Mount Carrigain 2/4/17
Lung Cancer Genetics: Common Mutations and How to Treat Them David J. Kwiatkowski, MD, PhD Mount Carrigain 2/4/17 Histology Adenocarcinoma: Mixed subtype, acinar, papillary, solid, micropapillary, lepidic
More informationEnabling Personalized
Molecular Enabling Personalized Diagnostics Medicine- Targeted Sequencing: NGS-based solutions Silvia Dorn Roel Reinders- Andreas Diplas Friday, 19.06.2015 Company Overview Founded in April 2011 Development
More informationCorporate Medical Policy
Corporate Medical Policy Molecular Panel Testing of Cancers to Identify Targeted Therapies File Name: Origination: Last CAP Review: Next CAP Review: Last Review: molecular_panel_testing_of_cancers_to_identify_targeted_therapies
More information5 th July 2016 ACGS Dr Michelle Wood Laboratory Genetics, Cardiff
5 th July 2016 ACGS Dr Michelle Wood Laboratory Genetics, Cardiff National molecular screening of patients with lung cancer for a national trial of multiple novel agents. 2000 NSCLC patients/year (late
More informationOncofocus. Patient Test Report
Oncofocus Patient Test Report Oncofocus Patient Test Report Oncologica UK Ltd, Suite 15-16, The Science Village, Chesterford Research Park, Cambridge, CB10 1XL www.oncologica.com - Tel: +44 (0)1223 785327
More informationComprehensive Genomic Profiling, in record time. Accurate. Clinically Proven. Fast.
Comprehensive Genomic Profiling, in record time Accurate. ly Proven. Fast. PCDx advantages Comprehensive genomic profiling, in record time PCDx Comprehensive Genomic Profiling (CGP) provides precise information
More informationStratified medicine in practice: Review of predictive biomarkers in European Medicines Agency (EMA) indications
Stratified medicine in practice: Review of predictive biomarkers in European Medicines Agency (EMA) indications Kinga Malottki, Mousumi Biswas, Jon Deeks, Richard Riley, Charles Craddock, Lucinda Billingham
More informationOncology Drug Development
Oncology Drug Development Advantages and challenges of using stratified clinical studies Simon J Hollingsworth The 18th Anti-Tumour Drug Development Forum 21 February Japan Stratified Medicine In The Clinic
More informationNew Drug development and Personalized Therapy in The Era of Molecular Medicine
New Drug development and Personalized Therapy in The Era of Molecular Medicine Ramesh K. Ramanathan MD Virginia G. Piper Cancer Center Translational Genomics Research Institute Scottsdale, AZ Clinical
More informationRegulatory Landscape for Precision Medicine
Regulatory Landscape for Precision Medicine Adam C. Berger, Ph.D. Office of In Vitro Diagnostics and Radiological Health, FDA FOCR-Alexandria A Blueprint for Breakthrough Meeting September 13, 2017 1 What
More informationNational Quality Assurance Advisory Panel - Genetics
National Quality Assurance Advisory Panel - Genetics Annual Report 2011-12 Meetings The Panel met twice during this period (18th October 2011 and 26 th March 2012) with this frequency of meetings to continue
More informationShared Care & Survival CTYA SSCRG (Childhood Cancer Research Group)
Shared Care & Survival CTYA SSCRG (Childhood Cancer Research Group) January 2013 The NCIN is a UK-wide initiative, working to drive improvements in standards of cancer care and clinical outcomes by improving
More informationRobert Beer
Robert Beer Robert.beer@wales.nhs.uk All Wales Medical Genetics Service Genetic Technologist Training Day 22 nd November 2017 Contents Stratified Medicine NHS EGFR Diagnostic Testing Services Cell free
More informationOsamu Tetsu, MD, PhD Associate Professor Department of Otolaryngology-Head and Neck Surgery School of Medicine, University of California, San
Osamu Tetsu, MD, PhD Associate Professor Department of Otolaryngology-Head and Neck Surgery School of Medicine, University of California, San Francisco Lung Cancer Classification Pathological Classification
More informationSALSA MLPA probemix P175-A3 Tumour Gain Lot A3-0714: As compared to the previous version A2 (lot A2-0411), nine probes have a small change in length.
SALSA MLPA probemix P175-A3 Tumour Gain Lot A3-0714: As compared to the previous version A2 (lot A2-0411), nine probes have a small change in length. This SALSA probemix is for basic research only! This
More informationYour single-source laboratory solution. FISH Probe Library
Your single-source laboratory solution. FISH Probe Library Alphabetical List by Probe with Clinical Indication Probe Clinical Indication 1p36 (TP73)/19q13 (GLTSCR) 1q21 (CKS1B) 5q (CSF1R/RPS14) 7q (MDFIC)
More informationDrug-targeted therapies and Predictive Prognosis: Changing Role for the Pathologist
Drug-targeted therapies and Predictive Prognosis: Changing Role for the Pathologist Moderator: S. Terence Dunn, Ph.D. Associate Professor, Pathology Director, Molecular Pathology Laboratory University
More informationFrequency(%) KRAS G12 KRAS G13 KRAS A146 KRAS Q61 KRAS K117N PIK3CA H1047 PIK3CA E545 PIK3CA E542K PIK3CA Q546. EGFR exon19 NFS-indel EGFR L858R
Frequency(%) 1 a b ALK FS-indel ALK R1Q HRAS Q61R HRAS G13R IDH R17K IDH R14Q MET exon14 SS-indel KIT D8Y KIT L76P KIT exon11 NFS-indel SMAD4 R361 IDH1 R13 CTNNB1 S37 CTNNB1 S4 AKT1 E17K ERBB D769H ERBB
More informationDr. Pravin D. Potdar. M.Sc, Ph.D., DMLT,DHE,DMS
Gene Expression Profiling: Role in Diagnosis & Therapies of Cancer Dr. Pravin D. Potdar. M.Sc, Ph.D., DMLT,DHE,DMS Head, Department of Molecular Medicine & Biology, Jaslok Hospital & Research Centre, 15,
More informationThe French national network of 28 hospital molecular genetics platforms: summary of the activity in 2009
Measure 21 care and life of patients The French national network of 28 hospital molecular genetics platforms: summary of the activity in 2009 COLLECTION reports & summaries ACCESS TO INNOVATIVE MOLECULAR
More informationGiorgio V. Scagliotti Università di Torino Dipartimento di Oncologia
Giorgio V. Scagliotti Università di Torino Dipartimento di Oncologia giorgio.scagliotti@unito.it Politi K & Herbst R. Clin. Cancer Res. 2015; 21:2213 Breast Colorectal Gastric/GE Junction Tumor Type Head
More information6/22/2017 TARGETING THE TARGETS IN 2017 TARGETING THE TARGETS IN 2017
TARGETING THE TARGETS IN 2017 Primary Care Focus Symposium July 1, 2017 Grace Wang MD I do not have any relevant financial relationships to disclose at this time TARGETING THE TARGETS IN 2017 What are
More informationFusion Analysis of Solid Tumors Reveals Novel Rearrangements in Breast Carcinomas
Fusion Analysis of Solid Tumors Reveals Novel Rearrangements in Breast Carcinomas Igor Astsaturov Philip Ellis Jeff Swensen Zoran Gatalica David Arguello Sandeep Reddy Wafik El-Deiry Disclaimers Dr. Igor
More informationMolecular Testing Updates. Karen Rasmussen, PhD, FACMG Clinical Molecular Genetics Spectrum Medical Group, Pathology Division Portland, Maine
Molecular Testing Updates Karen Rasmussen, PhD, FACMG Clinical Molecular Genetics Spectrum Medical Group, Pathology Division Portland, Maine Keeping Up with Predictive Molecular Testing in Oncology: Technical
More informationMET as a novel treatment target- the story of the sleeping beauty. Balazs Halmos M.D. Montefiore Medical Center/Albert Einstein College of Medicine
MET as a novel treatment target- the story of the sleeping beauty Balazs Halmos M.D. Montefiore Medical Center/Albert Einstein College of Medicine MET as a novel treatment target MET as an oncogene MET
More informationHOW MAY THE CLASSIFICATION OF SOFT TISSUE TUMORS EVOLVE?
Spanish Society of Pathology Zaragoza, May 2011 ARTHUR PURDY STOUT SYMPOSIUM HOW MAY THE CLASSIFICATION OF SOFT TISSUE TUMORS EVOLVE? Christopher D.M. Fletcher, M.D., FRCPath Brigham and Women s Hospital
More informationA Day in the Life of a Breast Cancer Doctor: Integrating Omics to Optimize Patient Outcomes. March 17-18, 2015 New York, NY
A Day in the Life of a Breast Cancer Doctor: Integrating Omics to Optimize Patient Outcomes March 17-18, 2015 New York, NY A Day in the Life of a Breast Cancer Doctor: Integrating Omics to Optimize Patient
More informationMolecular. Oncology & Pathology. Diagnostic, Prognostic, Therapeutic, and Predisposition Tests in Precision Medicine. Liquid Biopsy.
Molecular Oncology & Pathology Hereditary Cancer Somatic Cancer Liquid Biopsy Next-Gen Sequencing qpcr Sanger Sequencing Diagnostic, Prognostic, Therapeutic, and Predisposition Tests in Precision Medicine
More informationMATCHMAKING IN ONCOLOGY CHALLENGES AND COMBINATION STRATEGY FOR NOVEL TARGETED AGENTS
MATCHMAKING IN ONCOLOGY CHALLENGES AND COMBINATION STRATEGY FOR NOVEL TARGETED AGENTS DR. RACHEL E. LAING*, OLIVIER LESUEUR*, STAN HOPKINS AND DR. SEAN X. HU MAY 2012 Recent advances in oncology, such
More informationSecuenciación masiva: papel en la toma de decisiones
Secuenciación masiva: papel en la toma de decisiones Cancer is a Genetic Disease Development of cancer is driven by the acquisition of somatic genetic alterations: Nonsynonymous point mutations: missense.
More informationThe mutations that drive cancer. Paul Edwards. Department of Pathology and Cancer Research UK Cambridge Institute, University of Cambridge
The mutations that drive cancer Paul Edwards Department of Pathology and Cancer Research UK Cambridge Institute, University of Cambridge Previously on Cancer... hereditary predisposition Normal Cell Slightly
More informationComprehensive genomic profiling for various solid tumors
Content Highlight Test Specification Test Content Performance Validation Test Report I II III IV V The NovoPM TM comprehensive cancer genomic profiling test Comprehensive genomic profiling for various
More informationInformatics in the new NHS : PHE and NCIN 9 months on. Nicky Coombes National Cancer Intelligence Network
Informatics in the new NHS : PHE and NCIN 9 months on. Nicky Coombes National Cancer Intelligence Network What was then... Key Funding Accountability Regulation Advice Parliament NICE Department of Health
More informationKarl Kashofer, Phd Institut für Pathologie Medizinische Universität Graz
Expanding on WHO guideline compliant molecular testing of central nervous system tumors by low density whole genome sequencing. Karl Kashofer, Phd Institut für Pathologie Medizinische Universität Graz
More informationAccel-Amplicon Panels
Accel-Amplicon Panels Amplicon sequencing has emerged as a reliable, cost-effective method for ultra-deep targeted sequencing. This highly adaptable approach is especially applicable for in-depth interrogation
More informationDr Yvonne Wallis Consultant Clinical Scientist West Midlands Regional Genetics Laboratory
Dr Yvonne Wallis Consultant Clinical Scientist West Midlands Regional Genetics Laboratory Personalised Therapy/Precision Medicine Selection of a therapeutic drug based on the presence or absence of a specific
More informationEXAMPLE. - Potentially responsive to PI3K/mTOR and MEK combination therapy or mtor/mek and PKC combination therapy. ratio (%)
Dr Kate Goodhealth Goodhealth Medical Clinic 123 Address Road SUBURBTOWN NSW 2000 Melanie Citizen Referring Doctor Your ref Address Dr John Medico 123 Main Street, SUBURBTOWN NSW 2000 Phone 02 9999 9999
More informationTargeted Agent and Profiling Utilization Registry (TAPUR ) Study. February 2018
Targeted Agent and Profiling Utilization Registry (TAPUR ) Study February 2018 Precision Medicine Therapies designed to target the molecular alteration that aids cancer development 30 TARGET gene alterations
More informationPersonalized Genetics
Personalized Genetics Understanding Your Genetic Test Results Tracey Evans, MD September 29, 2017 Genetics 101 Punnett Square Genetic Pedigree 2 Genetics 101 Punnett Square Genetic Pedigree 3 It s not
More informationCDx in oncology Prof. Christophe Le Tourneau, MD, PhD FEAM Geneva September 27, 2018
CDx in oncology Prof. Christophe Le Tourneau, MD, PhD Institut Curie Paris & Saint-Cloud France Head, Department of Drug Development and Innovation (D 3 i) INSERM U900 Research unit Versailles Saint-Quentin-en-Yvelines
More informationCOLORECTAL PATHWAY GROUP, MANCHESTER CANCER. Guidelines for the assessment of mismatch. Colorectal Cancer
COLORECTAL PATHWAY GROUP, MANCHESTER CANCER Guidelines for the assessment of mismatch repair (MMR) status in Colorectal Cancer March 2017 1 Background Mismatch repair (MMR) deficiency is seen in approximately
More information