Utility of liquid biopsies EQA Program Naples, IT Sidney A. Scudder, MD Director, Clinical Science 13 May, 2017

Size: px
Start display at page:

Download "Utility of liquid biopsies EQA Program Naples, IT Sidney A. Scudder, MD Director, Clinical Science 13 May, 2017"

Transcription

1 Utility of liquid biopsies EQA Program Naples, IT Sidney A. Scudder, MD Director, Clinical Science 13 May, 2017 picture placeholder

2 Agenda cobas EGFR Mutation Test v2 Ring Trial SQI Semi Quantitative Index Inter-laboratory comparison LSR Avenio

3 cobas EGFR Mutation Test v2* FDA approved as a Companion Diagnostic in tissue and plasma for ex19del, L858R and T790M 42 MUTATIONS DETECTED AMPLIFICATION MMX TARGET MMX1 EX19Del; S768I; EX28/IC MMX2 MMX3 v.2 L858R; T790M; EX28/IC L861Q; G719A/C/S; EX20Ins; EX28/IC MN June 2017 page 3 CONFIDENTIAL, NOT FOR DISTRIBUTION Roche Molecular Diagnostics 2015

4 RING Trial cobas EGFR Test v2 Plasma Evaluate the performance of the cobas EGFR Mutation Test v2 contrived plasma samples cobas 4800 system EGFR exon 19 deletion, p.s7681, p.t790m, exon 20 insertion, p.l858r, and p.l861q mutations. Objectives : Identification of the target mutation Demonstrate linearity of copy numbers(or percentage mutation) to the SQI (Semi-Quantitative Index) value Demonstrate the concordance of SQI values across multiple testing sites

5 RING Trial cobas EGFR Test v2 Plasma Co-principal investigators Prof. Dr. E Dequeker Prof. Dr. N Normanno Prof. Dr. H van Krieken Study coordinator C. Keppens

6 RING Trial panel design Two 27 member panels 3 WT samples 24 samples with mutations HD plasma spiked with plasmid DNA Double EGFR mutations in 4 combinations Six target copies/ml Additional panel for ddpcr/ngs Cell-Line DNA Combination 1 Cell-Line DNA Combination 2 Cell-Line DNA Combination 3 Cell-Line DNA Combination 4 Exon 19 Del L858R S768I L861Q T790M T790M G719A Exon20 ins

7 Semi-Quantitative Index (SQI) Overview* Increase or decrease in the SQI value is reflective of a change in mutational load within a patient SQI value is only meaningful relative to a previous or future measurement in the same patient SQI value correlates to target mutation concentration in a fixed volume of plasma (2 ml) Cannot compare mutational load across patients Currently, no standard exists for quantifying EGFR-mutant ctdna concentration in plasma * Only available ex-us 7 Confidential Not for Distribution - Roche 24Feb2016

8 Semi-Quantitative Index (SQI) Clinical studies NGs vs. SQI: Ex19Del L858R T790M Copies/mL vs. SQI: Marchetti R=0.99 R=0.97 R=0.97 COPIES / ml COPIES / ml COPIES / ml Keppens ESMO 2016

9 RING Trial Concordance of SQI values Intra-laboratory Repeatability Average CV over all 14 test sites Intra-laboratory Reproducibility Average CV over 4 test repetitions is given CV s for p.(g719a) are higher compared to the rest Lower cp/ml lead to higher CV. Inter-laboratory CV s are higher compared to intralaboratory CV s

10 RING Trial Results Overall: 98.0% correct EGFR status 2.0% (52/2662) false-negatives 0.06% (6/9314) false-positives 0.8% of runs (12/1512) excluded due to protocol deviations, 0.2% (3/1512) technical failures (test level) LOD LOD Roche Oncology LSRs not available in the U.S. 14 June 2017 page 10 Roche Molecular Diagnostics 2015

11 RING Trial cobas EGFR Test v2 Plasma Conclustions: Robust Performance of the cobas EGFR Mutation Test v2 in plasma Within labs (repeatability) Between labs (reproducibility) No false positives for WT samples (specificity) Repeat testing for low SQI values may reduce the average variation. High correlation between Copies/mL and SQI allowing for sequential estimates of mutational load in an individual patient

12 Agenda cobas EGFR Mutation Test v2 Ring Trial SQI Semi Quantitative Index Inter-laboratory comparison LSR Avenio

13 The BRAF/NRAS and KRASv2 LSRs Now for FFPET and Plasma samples MUTATIONS DETECTED 1,2 MUTATION COVERAGE 3 BRAF/NRAS Mutation Test (LSR) 36 Mutations BRAF (11): V600E/E2/D/R/K, K601E, G466A/V, G469A/R/V NRAS (25): G12A/C/D/R/S/V, G13A/C/D/R/S/V, A18T, A59D/T, Q61Hc/Ht/K/L/P/R, K117Nc/Nt, A146T/V BRAF: 96% melanoma, 98% CRC NRAS: 96% melanoma, 97% CRC KRAS Mutation Test v2 (LSR) 28 Mutations KRAS (28): G12A/C/D/R/S/V, G13A/C/D/R/S/V, A59E/G/S/T, Q61E/Hc/Ht/K/L/P/R, K117Nc/Nt, A146P/T/V 99% in CRC, NSCLC, PDAC DNA INPUT 1,2 2mL Plasma 150ng DNA 150ng DNA SENSITIVITY 1,2 100 copies/ml for most common mutations 5% mutant FFPET DNA in a background of wild-type DNA 1% mutant FFPET DNA in a background of wild-type DNA 1 BRAF/NRAS Mutation Test (LSR) Package Insert For Life Science Research Only (LSR). Not for use in diagnostic procedures. 2 KRAS Mutation Test v2 (LSR) Package Insert 3 COSMIC Database v80 Roche Oncology LSRs not available in the U.S. Roche Molecular Diagnostics June 2017 page 13

14 Same LSR workflow. Now for plasma samples. Expanding flexibility of the LSR Testing Workflow to allow cfdna testing Plasma Samples Added Growth curve visibility Ct values provided Web-based data analysis 8 hours Sample-to-result possible within a single laboratory shift Roche Oncology LSRs not available in the U.S. Roche Molecular Diagnostics June 2017 page 14

15 Concordance of the SQI to % Mutation Strong correlation to percent mutation measured by NGS The Semi-Quantitative Index (SQI) is listed as Unit on the report for each Mutation The SQI unit is only provided for Mutation Positive results A series of Unit values provides trend information for the amount of circulating tumor DNA in the blood Increasing Unit trend indicates increase in the amount of circulating tumor DNA in the blood CLINICAL SAMPLE 1 CLINICAL SAMPLE 2 r 2 = r 2 = SQI SQI Source: Internal study assessing concordance of SQI and % Mutation from in-house MiSeq method using cfdna isolated from plasma of melanoma patients Roche Oncology LSRs not available in the U.S. Roche Molecular Diagnostics June 2017 page 15

16 Sensitivity in Plasma Samples LOD copies/ml WILD-TYPE COPY BACKGROUND OF 160,000 COPIES 0.1% mutation 100 MUTANT COPIES/mL BRAF V600E V600K V600R G466A G469A G469R G469V NRAS G12A G12C G12D G12R G13A Q61Ha Q61K Q61L Q61P 2 ml 0.2% mutation 200 MUTANT COPIES/mL BRAF V600E2 V600D K601E G466V NRAS G12S G12V G13C G13D G13R G13S G13V A18T Q61Hb Q61R K117Nc Note: Select mutations were detected at higher levels of mutant copies. NRAS A59D, A59T, K117Nt, and A146V were detected at 200 mutant copies/ml in a wildtype background of 16,000 copies. NRAS A146T was detected at 500 mutant copies in a wild-type background of 16,000 copies. Roche Oncology LSRs not available in the U.S. Roche Molecular Diagnostics June 2017 page 16

17 Results Comparison of LSR to NGS Results show nearly 99% overall concordance to NGS Method Comparison: Study Design Summary of LSR Test Results 186 plasma samples collected cfdna isolated n = 128 n = 57 n = 1 wt LSR RESULT N % NMD % MUTANT % BRAF Mutant % V600E/E2/D % V600K 4 2.2% V600R 1 0.5% NRAS Mutant 8 4.3% Q61X 4 2.2% G12X 2 1.1% G13X 2 1.1% BRAF+NRAS Mutant 2 1.1% V600E/E2/D + N Q61X 2 1.1% TOTAL 186 LSR and MiSeq Method Correlation Summary same eluate used for both test methods BRAF/NRAS Mutation Test (LSR) In-House MiSeq Reference Method LSR MiSeq Positive Agreement: 48/50 (96.0%) Negative Agreement: 136/136 (100%) Overall Agreement: 184/186 (98.9%) Roche Oncology LSRs not available in the U.S. Roche Molecular Diagnostics June 2017 page 17

18 Multiplex Mix mutation and sample types EXISTING NEW! Sample Collection NA Isolation BRAF/NRAS FFPET KRAS v2 FFPET BRAF/NRAS PLASMA POS CTRL NEG CTRL sample 1 FFPET Or Plasma cobas DNA SP Kit sample 2 sample 3 sample 4 sample 5 sample 6 Roche Oncology LSRs not available in the U.S. Roche Molecular Diagnostics June 2017 page 18

19 Agenda cobas EGFR Mutation Test v2 Ring Trial SQI Semi Quantitative Index Inter-laboratory comparison LSR Avenio

20 AVENIO ctdna Analysis Kits Liquid biopsy somatic mutation tests INTENDED USE For Research Use Only RESEARCH SUBJECTS Subjects diagnosed with late stage solid tumors Focus on: Lung and Colorectal cancer; pan cancer applications (e.g., breast cancer) THROUGHPUT 16 samples (16 adapters) SOFTWARE User interface and report with secondary analysis (variant calls) SAMPLE TYPE ctdna from 4mL plasma MUTATION COVERAGE Includes multiple mutation types in one panel (SNV, CNV, fusions and indels) to allow for the detection of variants relevant in guidelines, clinical research selection, and longitudinal monitoring of tumor burden TECHNOLOGY/PLATFORM Illumina NextSeq* 500/550; manual assay *NEXTSEQ is a trademark of Illumina. The NextSeq 500/550 instruments and associated sequencing reagents are manufactured and sold by Illumina and are not supplied by Roche For Research Use Only. Not for use in diagnostic procedures. 20 Do Not Distribute 25 April 2017 page 20 Roche

21 Workflow Overview The AVENIO ctdna Analysis Kits provide labs with a comprehensive end-to-end solution Bringing together multiple technologies to simplify the workflow and improve turnaround time For Research Use Only. Not for use in diagnostic procedures. 21 Do Not Distribute 25 April 2017 page 21 Roche

22 Panel Overview A portfolio of liquid biopsy options provide flexibility to match the right panel to the right research goal Targeted Panel Expanded Panel Surveillance Panel Analyze genes in NCCN Guidelines Analyze genes targeted in clinical trials Analyze genes in longitudinal tracking Number of genes genes Size 81kb 192kb 198kb Mutation Classes SNVs, CNVs, Indels, Fusions Source: Data on file For Research Use Only. Not for use in diagnostic procedures. 22 Do Not Distribute 25 April 2017 page 22 Roche

23 14 June

24 Roche Diagnostic Oncology Portfolio 1) BRAIN/CNS IHC: GFAP, ACTH, S100, Synaptophysin, LH, NSE, NF, NSE 2) THYROID IHC: BRAF IA: Tg, Calcitonin PCR: BRAF 3) BREAST IHC/ISH: HER2, ER, PR, Ki-67 IA: CA15-3 PCR: PIK3CA (RUO)* 4) UPPER GI 1 IHC/ISH: HER2 (CE-IVD) IA: CA19-9, CA72-4, AFP ) HEAD & NECK IHC: CINtec Histology, HPV (CE-IVD) 8) SKIN IHC: Triple Melanoma Cocktail, MITF, S-100 IA: S100 PCR: BRAF 9) LUNG IHC: ALK, TTF-1, Napsin A, CD 5/6, p63, etc. IA: progrp, NSE, CEA, SCC, CYFRA 21-1 PCR: EGFR, KRAS 10) BLOOD 3 IHC: B-Cell/T-Cell Lymphoma Markers PCR: BCR-ABL 5) KIDNEY IHC: EMA, PAX8, RCC 11) COLORECTAL IHC: CDX2, CK20, CK7, MMR, BRAF V600E IA: CEA, CA19-9 PCR: KRAS 6) GYNECOLOGICAL 2 IHC: CINtec PLUS & CINtec Histology IA: CA125, HE4, CA72-4, SCC PCR: HPV 12) BLADDER IHC: SMA, CK 20, p53, CK 7, Uroplakin III IA: CYFRA Includes esophagus, liver, pancreas, stomach *RUO = research use only 2 Includes cervical, ovarian, uterine 3 Includes leukemia, lymphoma, myeloma 14 June 2017 page 24 Roche Oncology LSRs not available in the U.S. Roche Molecular Diagnostics ) PROSTATE IHC: Basal Cell Cocktail, p63, ERG IA: PSA, fpsa IHC = immunohistochemistry ISH = in situ hybridization IA = immunoassay PCR = polymerase chain reaction

AVENIO family of NGS oncology assays ctdna and Tumor Tissue Analysis Kits

AVENIO family of NGS oncology assays ctdna and Tumor Tissue Analysis Kits AVENIO family of NGS oncology assays ctdna and Tumor Tissue Analysis Kits Accelerating clinical research Next-generation sequencing (NGS) has the ability to interrogate many different genes and detect

More information

AVENIO ctdna Analysis Kits The complete NGS liquid biopsy solution EMPOWER YOUR LAB

AVENIO ctdna Analysis Kits The complete NGS liquid biopsy solution EMPOWER YOUR LAB Analysis Kits The complete NGS liquid biopsy solution EMPOWER YOUR LAB Analysis Kits Next-generation performance in liquid biopsies 2 Accelerating clinical research From liquid biopsy to next-generation

More information

Personalized Healthcare Update

Personalized 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 information

Liquid biopsy: the experience of real life case studies

Liquid 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 information

QIAGEN Complete Solutions for Liquid Biopsy Molecular Testing

QIAGEN 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 information

Transform genomic data into real-life results

Transform 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 information

MET skipping mutation, EGFR

MET skipping mutation, EGFR New NSCLC biomarkers in clinical research: detection of MET skipping mutation, EGFR T790M, and other important biomarkers Fernando López-Ríos Laboratorio de Dianas Terapéuticas Hospital Universitario HM

More information

Liquid biopsy in lung cancer: The EGFR paradigm

Liquid biopsy in lung cancer: The EGFR paradigm Liquid biopsy in lung cancer: The EGFR paradigm Lynette M. Sholl, M.D. Brigham and Women s Hospital Dana Farber Cancer Institute Department of Pathology Boston, MA Disclosure of Relevant Financial Relationships

More information

MUTATION TEST CE IVD. ctnras-braf FEATURES

MUTATION TEST CE IVD. ctnras-braf FEATURES ctnras-braf CE IVD TECHNICAL SHEET IDYLLA ctnras-braf MUTATION TEST The Idylla ctnras-braf Mutation Test, performed on the Biocartis Idylla System, is an in vitro diagnostic test for the qualitative detection

More information

See how you can guide the path her cancer takes

See how you can guide the path her cancer takes See how you can guide the path her cancer takes The need for improved diagnostics At the advanced edge of oncology, rapid access to accurate data on disease state is vital. Current technologies such as

More information

Transforming Oncology With Precision Medicine Solutions. Company Overview January 2017

Transforming Oncology With Precision Medicine Solutions. Company Overview January 2017 Transforming Oncology With Precision Medicine Solutions Company Overview January 2017 FORWARD-LOOKING STATEMENTS Statements in this presentation about the Company's expectations, applications of its technology,

More information

NGS ONCOPANELS: FDA S PERSPECTIVE

NGS ONCOPANELS: FDA S PERSPECTIVE NGS ONCOPANELS: FDA S PERSPECTIVE CBA Workshop: Biomarker and Application in Drug Development August 11, 2018 Rockville, MD You Li, Ph.D. Division of Molecular Genetics and Pathology Food and Drug Administration

More information

Liquid Biopsy Applications on the Idylla Fully Integrated Sample-to-Result MDx System

Liquid Biopsy Applications on the Idylla Fully Integrated Sample-to-Result MDx System Liquid Biopsy Applications on the Idylla Fully Integrated Sample-to-Result MDx System Erwin Sablon, Head of R&D, Biocartis NV World CDx, Boston, September 10 th 2015 0 About Biocartis Innovative molecular

More information

Y L L NOTHING BUT THIS. NOTHING IS SIMPLE IN ONCOLOGY.

Y L L NOTHING BUT THIS. NOTHING IS SIMPLE IN ONCOLOGY. ID Y L L NOTHING BUT THIS. A NOTHING IS SIMPLE IN ONCOLOGY. WHAT DOES IDYLLA TM M E AN FOR CANCER PATIENTS? High Precision Diagnostics for Personalized Medicine RAPID TREATMENT INITIATION 1 Test results

More information

EGFR ctdna Testing. Andrew Wallace 21/09/2015 Genomic Diagnostics Laboratory St. Mary s Hospital, Manchester

EGFR ctdna Testing. Andrew Wallace 21/09/2015 Genomic Diagnostics Laboratory St. Mary s Hospital, Manchester EGFR ctdna Testing Andrew Wallace 21/09/2015 Genomic Diagnostics Laboratory St. Mary s Hospital, Manchester ctdna & EGFR Testing in NSCLC EGFR ctdna testing Non-invasive - patients too sick/biopsy or cytology

More information

Enabling Personalized

Enabling 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 information

PRECISION INSIGHTS. Liquid GPS. Blood-based tumor profiling and quantitative monitoring. Reveal more with cfdna + cfrna.

PRECISION INSIGHTS. Liquid GPS. Blood-based tumor profiling and quantitative monitoring. Reveal more with cfdna + cfrna. PRECISION INSIGHTS Liquid GPS Blood-based tumor profiling and quantitative monitoring Reveal more with cfdna + cfrna www.nanthealth.com Why Blood-Based Tumor Profiling? Although tissue-based molecular

More information

Molecular 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 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 information

Lukas Bubendorf Pathologie. Liquid biopsies

Lukas Bubendorf Pathologie. Liquid biopsies Lukas Bubendorf Pathologie Liquid biopsies Liquid biopsies 1. Circulating cell-free tumor-dna (ctdna) 2. Circulating tumor cells (CTC) Source: Sysmex CTCs ctdna ctrna exosomes Quantification Protein RNA

More information

Next Generation Sequencing in Clinical Practice: Impact on Therapeutic Decision Making

Next 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 information

Frequency(%) 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(%) 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 information

NGS IN ONCOLOGY: FDA S PERSPECTIVE

NGS IN ONCOLOGY: FDA S PERSPECTIVE NGS IN ONCOLOGY: FDA S PERSPECTIVE ASQ Biomed/Biotech SIG Event April 26, 2018 Gaithersburg, MD You Li, Ph.D. Division of Molecular Genetics and Pathology Food and Drug Administration (FDA) Center for

More information

Personalised Healthcare (PHC) with Foundation Medicine (FMI) Fatma Elçin KINIKLI, FMI Turkey, Science Leader

Personalised Healthcare (PHC) with Foundation Medicine (FMI) Fatma Elçin KINIKLI, FMI Turkey, Science Leader Personalised Healthcare (PHC) with Foundation Medicine (FMI) Fatma Elçin KINIKLI, FMI Turkey, Science Leader Agenda PHC Approach Provides Better Patient Outcome FMI offers Comprehensive Genomic Profiling,

More information

Overview of the ESP Lung and Colon EQA schemes with a focus on Dutch laboratories

Overview of the ESP Lung and Colon EQA schemes with a focus on Dutch laboratories Overview of the ESP Lung and Colon EQA schemes with a focus on Dutch laboratories Dr. Nils t Hart University Medical Center Groningen, The Netherlands Drs. Cleo Keppens Catholic University of Leuven, Belgium

More information

Accel-Amplicon Panels

Accel-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 information

Urinary ctdna Platform for Diagnosis and Cancer Treatment Monitoring. Summit August 19,2015

Urinary ctdna Platform for Diagnosis and Cancer Treatment Monitoring. Summit August 19,2015 Urinary ctdna Platform for Diagnosis and Cancer Treatment Monitoring Mark G. Erlander, Ph.D., CSO CHI Next Generation Summit August 19,2015 Circulating Tumor DNA (ctdna) Tumor cells Main Advantages of

More information

The OncoBEAM Platform: The Use of a High Sensitive Technology for Liquid Biopsies in Clinical Practice

The OncoBEAM Platform: The Use of a High Sensitive Technology for Liquid Biopsies in Clinical Practice The OncoBEAM Platform: The Use of a High Sensitive Technology for Liquid Biopsies in Clinical Practice Sysmex Inostics Dr. Friederike Lehmann Head of CRO Marketing Sysmex Corporation Kobe 2 Sysmex Corporation

More information

SureSelect Cancer All-In-One Custom and Catalog NGS Assays

SureSelect 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 information

La biopsia liquida dei tumori: il viaggio. Paola Gazzaniga Liquid Biopsy Unit Dept. Molecular Medicine Sapienza University of Rome

La biopsia liquida dei tumori: il viaggio. Paola Gazzaniga Liquid Biopsy Unit Dept. Molecular Medicine Sapienza University of Rome La biopsia liquida dei tumori: il viaggio Paola Gazzaniga Liquid Biopsy Unit Dept. Molecular Medicine Sapienza University of Rome Must Know Necessary Travel Tips There is lack of drugs to treat all the

More information

Next generation diagnostics Bringing high-throughput sequencing into clinical application

Next 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 information

NGS in tissue and liquid biopsy

NGS in tissue and liquid biopsy NGS in tissue and liquid biopsy Ana Vivancos, PhD Referencias So, why NGS in the clinics? 2000 Sanger Sequencing (1977-) 2016 NGS (2006-) ABIPrism (Applied Biosystems) Up to 2304 per day (96 sequences

More information

Clinical Utility of Droplet ddpcr, moving to diagnostics. Koen De Gelas, PhD, CRIG ddpcr mini symposium, 15/05/2018

Clinical Utility of Droplet ddpcr, moving to diagnostics. Koen De Gelas, PhD, CRIG ddpcr mini symposium, 15/05/2018 1 Clinical Utility of Droplet ddpcr, moving to diagnostics 2 Koen De Gelas, PhD, CRIG ddpcr mini symposium, 15/05/2018 Disclaimer Disclaimer: all consumables, instruments, applications and software covered

More information

See how you can guide the path her cancer takes

See how you can guide the path her cancer takes See how you can guide the path her cancer takes 1 Idylla : easy, rapid and accurate molecular medicine for every patient Paola Valente Strategic Marketing Biocartis 6th meeting on external quality assessment

More information

ctbraf Mutation Assay

ctbraf Mutation Assay The first and only fully automated liquid biopsy assay ctbraf Idylla ctbraf Mutation Assay The easiest solution to implement liquid biopsy testing The potential of liquid biopsy The use of liquid biopsies

More information

Introduction to liquid biopsy in a Specialized Cancer Center

Introduction to liquid biopsy in a Specialized Cancer Center Introduction to liquid biopsy in a Specialized Cancer Center Dr. Antonio Cubillo Head, Medical OncologyDepartment HM-CIOCC In collaboration with OUTLINE Need Liquid Biopsy: Definition and techniques Sensitivity

More information

CDx in oncology Prof. Christophe Le Tourneau, MD, PhD FEAM Geneva September 27, 2018

CDx 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 information

Applications of IHC. Determination of the primary site in metastatic tumors of unknown origin

Applications of IHC. Determination of the primary site in metastatic tumors of unknown origin Applications of IHC Determination of the primary site in metastatic tumors of unknown origin Classification of tumors that appear 'undifferentiated' by standard light microscopy Precise classification

More information

The clinically challenging entity of liver metastasis from tumors of unknown primary

The clinically challenging entity of liver metastasis from tumors of unknown primary The clinically challenging entity of liver metastasis from tumors of unknown primary Xuchen Zhang, MD, PhD Associate Professor of Pathology Department of Pathology Yale University School of Medicine Liver

More information

La biopsia liquida. Aldo Scarpa. Anatomia Patologica e ARC-NET Centro di Ricerca Applicata sul Cancro

La biopsia liquida. Aldo Scarpa. Anatomia Patologica e ARC-NET Centro di Ricerca Applicata sul Cancro La biopsia liquida Aldo Scarpa Anatomia Patologica e ARC-NET Centro di Ricerca Applicata sul Cancro Azienda Ospedaliera Universitaria Integrata di Verona Obstacles to precision oncology Genomic heterogeneity

More information

Performance Characteristics BRCA MASTR Plus Dx

Performance Characteristics BRCA MASTR Plus Dx Performance Characteristics BRCA MASTR Plus Dx with drmid Dx for Illumina NGS systems Manufacturer Multiplicom N.V. Galileïlaan 18 2845 Niel Belgium Table of Contents 1. Workflow... 4 2. Performance Characteristics

More information

Supplementary Online Content

Supplementary 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 information

Illumina Trusight Myeloid Panel validation A R FHAN R A FIQ

Illumina Trusight Myeloid Panel validation A R FHAN R A FIQ Illumina Trusight Myeloid Panel validation A R FHAN R A FIQ G E NETIC T E CHNOLOGIST MEDICAL G E NETICS, CARDIFF To Cover Background to the project Choice of panel Validation process Genes on panel, Protocol

More information

Regulatory Landscape for Precision Medicine

Regulatory 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 information

Tissue or Liquid Biopsy? ~For Diagnosis, Monitoring and Early detection of Resistance~

Tissue or Liquid Biopsy? ~For Diagnosis, Monitoring and Early detection of Resistance~ 16 th Dec. 2016. ESMO Preceptorship Program Non-Small-Cell Lung Cancer @Singapore Tissue or Liquid Biopsy? ~For Diagnosis, Monitoring and Early detection of Resistance~ Research Institute for Disease of

More information

5 th July 2016 ACGS Dr Michelle Wood Laboratory Genetics, Cardiff

5 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 information

Fluxion Biosciences and Swift Biosciences Somatic variant detection from liquid biopsy samples using targeted NGS

Fluxion Biosciences and Swift Biosciences Somatic variant detection from liquid biopsy samples using targeted NGS APPLICATION NOTE Fluxion Biosciences and Swift Biosciences OVERVIEW This application note describes a robust method for detecting somatic mutations from liquid biopsy samples by combining circulating tumor

More information

Advances in Pathology and molecular biology of lung cancer. Lukas Bubendorf Pathologie

Advances in Pathology and molecular biology of lung cancer. Lukas Bubendorf Pathologie Advances in Pathology and molecular biology of lung cancer Lukas Bubendorf Pathologie Agenda The revolution of predictive markers Liquid biopsies PD-L1 Molecular subtypes (non-squamous NSCLC) Tsao AS et

More information

Supplementary Tables. Supplementary Figures

Supplementary Tables. Supplementary Figures Supplementary Files for Zehir, Benayed et al. Mutational Landscape of Metastatic Cancer Revealed from Prospective Clinical Sequencing of 10,000 Patients Supplementary Tables Supplementary Table 1: Sample

More information

Enterprise Interest Thermo Fisher Scientific / Employee

Enterprise Interest Thermo Fisher Scientific / Employee Enterprise Interest Thermo Fisher Scientific / Employee A next-generation sequencing assay to estimate tumor mutation load from FFPE research samples Fiona Hyland. Director of R&D, Bioinformatics Clinical

More information

ECMC cfdna consensus meeting

ECMC cfdna consensus meeting ECMC cfdna consensus meeting State of the art for cfdna technologies 24 th November 2014 Applications of ctdna analysis for drug development Potential of ctdna analysis to: Identify the right patients

More information

1. Q: What has changed from the draft recommendations posted for public comment in November/December 2011?

1. Q: What has changed from the draft recommendations posted for public comment in November/December 2011? Frequently Asked Questions (FAQs) in regard to Molecular Testing Guideline for Selection of Lung Cancer Patients for EGFR and ALK Tyrosine Kinase Inhibitors 1. Q: What has changed from the draft recommendations

More information

KEY FINDINGS 1. Potential Clinical Benefit in Non-Small Cell Lung Cancer with Gefitinib, Erlotinib, Afatinib due to EGFR E746_A750del. 2. Potential Cl

KEY FINDINGS 1. Potential Clinical Benefit in Non-Small Cell Lung Cancer with Gefitinib, Erlotinib, Afatinib due to EGFR E746_A750del. 2. Potential Cl PATIENT INFO SAMPLE REFERING PHYSICIAN COPY TO (if different from ordering) Name: John Smith Date Collected: 10/23/2016 Name: Oncologist, M.D. Name: Pathologist, M.D. DOB: 04/22/1937 Date Received: 10/24/2016

More information

Personalised 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 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 information

Corporate Medical Policy

Corporate 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 information

Molecular Testing in Lung Cancer

Molecular Testing in Lung Cancer Molecular Testing in Lung Cancer Pimpin Incharoen, M.D. Assistant Professor, Thoracic Pathology Department of Pathology, Ramathibodi Hospital Genetic alterations in lung cancer Source: Khono et al, Trans

More information

How close are we to standardised extended RAS gene mutation testing? The UK NEQAS experience

How close are we to standardised extended RAS gene mutation testing? The UK NEQAS experience How close are we to standardised extended RAS gene mutation testing? The UK NEQAS experience Dr Susan D. Richman, Dr Jennifer Fairley, Dr Rachel Butler, Dr Zandra C. Deans Overview Introduction to UK NEQAS

More information

Circulating Tumor DNA in GIST and its Implications on Treatment

Circulating Tumor DNA in GIST and its Implications on Treatment Circulating Tumor DNA in GIST and its Implications on Treatment October 2 nd 2017 Dr. Ciara Kelly Assistant Attending Physician Sarcoma Medical Oncology Service Objectives Background Liquid biopsy & ctdna

More information

Cell-free tumor DNA for cancer monitoring

Cell-free tumor DNA for cancer monitoring Learning objectives Cell-free tumor DNA for cancer monitoring Christina Lockwood, PhD, DABCC, DABMGG Department of Laboratory Medicine 1. Define circulating, cell-free tumor DNA (ctdna) 2. Understand the

More information

MEDICAL 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 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 information

Characterisation 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 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 information

A complete next-generation sequencing workfl ow for circulating cell-free DNA isolation and analysis

A complete next-generation sequencing workfl ow for circulating cell-free DNA isolation and analysis APPLICATION NOTE Cell-Free DNA Isolation Kit A complete next-generation sequencing workfl ow for circulating cell-free DNA isolation and analysis Abstract Circulating cell-free DNA (cfdna) has been shown

More information

The OncoBEAM RAS liquid biopsy experience in real-world clinical practice Frederick S. Jones, Ph.D., Global Director, Medical Scientific

The OncoBEAM RAS liquid biopsy experience in real-world clinical practice Frederick S. Jones, Ph.D., Global Director, Medical Scientific The OncoBEAM RAS liquid biopsy experience in real-world clinical practice Frederick S. Jones, Ph.D., Global Director, Medical Scientific Affairs,Sysmex 2 OncoBEAM liquid biopsy: circulating tumor DNA (ctdna)

More information

Somatic cancer applications of NGS in in vitro Diagnostics.

Somatic cancer applications of NGS in in vitro Diagnostics. Somatic cancer applications of NGS in in vitro Diagnostics. Nitin Udar PhD In Vitro Diagnsotics Division Illumina, Inc. 2013 Illumina, Inc. All rights reserved. Illumina, IlluminaDx, BaseSpace, BeadArray,

More information

Tumor Markers & Cytopathology

Tumor Markers & Cytopathology Tumor Markers & Cytopathology Objectives: After learning, student should be able to 1. Describe the basic concepts of tumor markers and Asst. Prof. Prasit Suwannalert, Ph.D. (Email: prasit.suw@mahidol.ac.th)

More information

Comprehensive genomic profiling for various solid tumors

Comprehensive 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 information

HSL-Advanced Diagnostics 2018 / 19 Test & Service List

HSL-Advanced Diagnostics 2018 / 19 Test & Service List HSL-Advanced Diagnostics 2018 / 19 Test & Service List 2018/19 TEST & SERVICE LIST Haematoxylin & Eosin H&E H&E per slide Routine Immunohistochemistry Immunohistochemical demonstration of an antigen in

More information

Identification of BRAF mutations in melanoma lesions with the Roche z480 instrument

Identification of BRAF mutations in melanoma lesions with the Roche z480 instrument Identification of BRAF mutations in melanoma lesions with the Roche z480 instrument Márta Széll IAP, Siófok May 14, 2012 Multifactorial skin diseses: much more frequent then genodermatoses exhibit familial

More information

Out-Patient Billing CPT Codes

Out-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 information

Dr Yvonne Wallis Consultant Clinical Scientist West Midlands Regional Genetics Laboratory

Dr 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 information

Evolution of Pathology

Evolution 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 information

Individualized Cancer Therapy: Chemotherapy Resistance Testing before Therapy

Individualized 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 information

Patient Leader Education Summit. Precision Medicine: Today and Tomorrow March 31, 2017

Patient 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 information

Disruptive innovation in molecular diagnostics. Hilde Windels CEO Biocartis 25 March 2017

Disruptive innovation in molecular diagnostics. Hilde Windels CEO Biocartis 25 March 2017 Disruptive innovation in molecular diagnostics Hilde Windels CEO Biocartis 25 March 2017 1 One of the key innovations in healthcare in the last decade PERSONALISED MEDICINE or HIGH PRECISION MEDICINE From

More information

6/12/2018. Disclosures. Clinical Genomics The CLIA Lab Perspective. Outline. COH HopeSeq Heme Panels

6/12/2018. Disclosures. Clinical Genomics The CLIA Lab Perspective. Outline. COH HopeSeq Heme Panels Clinical Genomics The CLIA Lab Perspective Disclosures Raju K. Pillai, M.D. Hematopathologist / Molecular Pathologist Director, Pathology Bioinformatics City of Hope National Medical Center, Duarte, CA

More information

Select analysis on the next pages. Sample request and sending address see last page. Institut für Pathologie und Molekularpathologie

Select analysis on the next pages. Sample request and sending address see last page. Institut für Pathologie und Molekularpathologie Diagnostic Tumor Genome Analysis Schmelzbergstrasse 12 8091 Zürich Tel.: (+41) 044 255 3929 Fax.: (+41) 044 255 4416 Client (address, telephone number): ngs.pathologie@usz.ch www.pathologie.usz.ch Sample-Nr:

More information

LUNG CANCER. pathology & molecular biology. Izidor Kern University Clinic Golnik, Slovenia

LUNG CANCER. pathology & molecular biology. Izidor Kern University Clinic Golnik, Slovenia LUNG CANCER pathology & molecular biology Izidor Kern University Clinic Golnik, Slovenia 1 Pathology and epidemiology Small biopsy & cytology SCLC 14% NSCC NOS 4% 70% 60% 50% 63% 62% 61% 62% 59% 54% 51%

More information

Implementation 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 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 information

Schedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK

Schedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK UCL-Advanced Diagnostics 1st Floor, Rockefeller Building 21 University Street London WC1E 6JJ Contact: David Allen Tel: +44 (0)20 7679 6912

More information

New molecular targets in lung cancer therapy

New molecular targets in lung cancer therapy New molecular targets in lung cancer therapy Giuseppe Pelosi Pathology Division, Science & Technology Park, IRCCS Multimedica, Milan Milan - Italy Advanced lung cancer (IIIB IV) Subtyping Oncogene addiction

More information

Future directions of Liquid Biopsy in monitoring of melanoma patients

Future directions of Liquid Biopsy in monitoring of melanoma patients Future directions of Liquid Biopsy in monitoring of melanoma patients Verena Haselmann, MD PhD Institute for Clinical Chemistry University of Mannheim, Germany verena.haselmann@umm.de Circulating tumor

More information

Vertical Magnetic Separation of Circulating Tumor Cells and Somatic Genomic-Alteration Analysis in Lung Cancer Patients

Vertical Magnetic Separation of Circulating Tumor Cells and Somatic Genomic-Alteration Analysis in Lung Cancer Patients Vertical Magnetic Separation of Circulating Cells and Somatic Genomic-Alteration Analysis in Lung Cancer Patients Chang Eun Yoo 1,2#, Jong-Myeon Park 3#, Hui-Sung Moon 1,2, Je-Gun Joung 2, Dae-Soon Son

More information

NCCN Non-Small Cell Lung Cancer V Meeting June 15, 2018

NCCN Non-Small Cell Lung Cancer V Meeting June 15, 2018 Guideline Page and Request Illumina Inc. requesting to replace Testing should be conducted as part of broad molecular profiling with Consider NGS-based assays that include EGFR, ALK, ROS1, and BRAF as

More information

Liquid Biopsy. Jesus Garcia-Foncillas MD PhD. Director

Liquid Biopsy. Jesus Garcia-Foncillas MD PhD. Director Liquid Biopsy Jesus Garcia-Foncillas MD PhD Director Main issues about liquid biopsies New paradigm: Precision Medicine Heterogeneity & Dynamics Surrogate mirror for the tumor CTCs in colon cancer ctdna:

More information

Introduction of an NGS gene panel into the Haemato-Oncology MPN service

Introduction of an NGS gene panel into the Haemato-Oncology MPN service Introduction of an NGS gene panel into the Haemato-Oncology MPN service Dr. Anna Skowronska, Dr Jane Bryon, Dr Samuel Clokie, Dr Yvonne Wallis and Professor Mike Griffiths West Midlands Regional Genetics

More information

Current Status of Biomarkers (including DNA Tumor Markers and Immunohistochemistry in the Laboratory Diagnosis of Tumors)

Current Status of Biomarkers (including DNA Tumor Markers and Immunohistochemistry in the Laboratory Diagnosis of Tumors) Current Status of Biomarkers (including DNA Tumor Markers and Immunohistochemistry in the Laboratory Diagnosis of Tumors) Kael Mikesell, DO McKay-Dee Hospital May 14, 2015 Outline Update to DNA Testing

More information

Corporate Medical Policy

Corporate 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 information

Cancer Gene Panels. Dr. Andreas Scherer. Dr. Andreas Scherer President and CEO Golden Helix, Inc. Twitter: andreasscherer

Cancer Gene Panels. Dr. Andreas Scherer. Dr. Andreas Scherer President and CEO Golden Helix, Inc. Twitter: andreasscherer Cancer Gene Panels Dr. Andreas Scherer Dr. Andreas Scherer President and CEO Golden Helix, Inc. scherer@goldenhelix.com Twitter: andreasscherer About Golden Helix - Founded in 1998 - Main outside investor:

More information

Diagnostic with alternative sample types (liquid biopsy)

Diagnostic with alternative sample types (liquid biopsy) MOLECULAR DIAGNOSTICS OF EGFR AND T790M MUTATIONS CHALLENGES AND SOLUTIONS Diagnostic with alternative sample types (liquid biopsy) James CH Yang, MD, PhD Director, Professor, Graduate Institute of Oncology

More information

Qué hemos aprendido hasta hoy? What have we learned so far?

Qué hemos aprendido hasta hoy? What have we learned so far? Qué hemos aprendido hasta hoy? What have we learned so far? Luís Costa Hospital de Santa Maria & Instituto de Medicina Molecular Faculdade de Medicina de Lisboa Disclosures Research Grants: Amgen; Novartis;

More information

Agenda. What is a Liquid Biopsy? Biocept technology. Concordance With Tissue. Clinical Applications. Billing and Reimbursement.

Agenda. What is a Liquid Biopsy? Biocept technology. Concordance With Tissue. Clinical Applications. Billing and Reimbursement. Agenda What is a Liquid Biopsy? Biocept technology Concordance With Tissue Clinical Applications Billing and Reimbursement Recap & Questions 1 Targets of Tumor Found in Liquid Biopsy 1 Eric Topol, Professor

More information

CLIA Laboratory Testing of Urinary BRAF V600E DNA mutations: Application in the Management of Patients with Histiocytic Diseases

CLIA Laboratory Testing of Urinary BRAF V600E DNA mutations: Application in the Management of Patients with Histiocytic Diseases CLIA Laboratory Testing of Urinary BRAF V600E DNA mutations: Application in the Management of Patients with Histiocytic Diseases Adriana Muniz 1, Mariko Matsutani 1, Karena Kosco 1, John Spinosa 1, Cecile

More information

AmoyDx TM BRAF V600E Mutation Detection Kit

AmoyDx TM BRAF V600E Mutation Detection Kit AmoyDx TM BRAF V600E Mutation Detection Kit Detection of V600E mutation in the BRAF oncogene Instructions For Use Instructions Version: B3.1 Date of Revision: April 2012 Store at -20±2 o C 1/5 Background

More information

Diagnostics Division. Daniel O Day COO Roche Diagnostics

Diagnostics Division. Daniel O Day COO Roche Diagnostics 1 This presentation contains certain forward-looking statements. These forward-looking statements may be identified by words such as believes, expects, anticipates, projects, intends, should, seeks, estimates,

More information

Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment with Targeted Tyrosine Kinase Inhibitors

Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment with Targeted Tyrosine Kinase Inhibitors Q: How is the strength of recommendation determined in the new molecular testing guideline? A: The strength of recommendation is determined by the strength of the available data (evidence). Strong Recommendation:

More information

SALSA MLPA probemix P315-B1 EGFR

SALSA MLPA probemix P315-B1 EGFR SALSA MLPA probemix P315-B1 EGFR Lot B1-0215 and B1-0112. As compared to the previous A1 version (lot 0208), two mutation-specific probes for the EGFR mutations L858R and T709M as well as one additional

More information

QA in Predic+ve Molecular Pathology. Anders Edsjö Uppsala

QA in Predic+ve Molecular Pathology. Anders Edsjö Uppsala QA in Predic+ve Molecular Pathology Anders Edsjö Uppsala 2012-09- 25 QA in Predic+ve Molecular Pathology Why? What? How? Results Future? Predic+ve Molecular Pathology Predictive Molecular Pathology - Need

More information

Development of Circulating Tumor DNA

Development of Circulating Tumor DNA Development of Circulating Tumor DNA Title of presentation Arial Bold 30pt in White Biomarkers Secondary title 22pt using Arial Next in White Generation Sequencing Brian Dougherty PhD, MBA Translational

More information

Giorgio V. Scagliotti Università di Torino Dipartimento di Oncologia

Giorgio 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 information

Diagnostic test Suggested website label Description Hospitals available

Diagnostic test Suggested website label Description Hospitals available Diagnostic test Suggested website label Description Hospitals available Abbott Molecular Inc, PATHVYSION HER-2 DNA Probe Kit (FISH) PathVysion kit A diagnostic tool used to determine whether a particular

More information

I. Diagnosis of the cancer type in CUP

I. 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 information