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1 Molecular Enabling Personalized Diagnostics Medicine- Targeted Sequencing: NGS-based solutions Silvia Dorn Roel Reinders- Andreas Diplas Friday,
2 Company Overview Founded in April 2011 Development and production of diagnostic assays Infrastructure Niel-Belgium (1,250 m2) Personnel (60 FTEs) Capital injection February 2013: 5.5 million Multiplicom 2015 CONFIDENTIAL More than 120 laboratories using our assays 2
3 Mission To develop, manufacture & sell innovative molecular diagnostics, that enable personalized medicine. Multiplicom CONFIDENTIAL
4 Offering IVD-class kits 4
5 MASTR technology Multiplex Amplification of Specific Targets for Resequencing 5
6 MASTR Workflow: Platform agnostic Multiplex PCR Barcode and adaptor incorporation 454 MIDs MID for Illumina MiSeq Short Read Amplification MID for Ion PGM System MPS run 6
7 A complete CE-IVD offer with data analysis for SNV and/or CNV Unique data analysis offer: BRCA MASTR Dx SNV + CNV Data analysis offer: BRCA MASTR Dx SNV only (v.4.1.2) 90% CNV detection Sophia Data Driven Medicine Added value % CNV All CNV 7 BRCA MAQ (RUO)
8 MASTR development process Aim: CE-Label Aim: CE label 8
9 MASTR key advantages Links into all bench top sequencing platforms No need to buy expensive equipment low barrier to entry Standard PCR based workflow: one protocol for all evolution, no revolution Efficient use of personnel and MPS resources overall significant cost reduction Enables faster TAT (turn around time) at lower overall cost Beneficial for patients All assays are quality controlled throughout assay process CE/IVD label less internal validation 9
10 MASTR criteria for clinical diagnostics Analysis of all coding regions with > 99,9% sensitivity Determination of SNPs Challenges with GC-rich region Pseudogenes Repeats (CNV): avoiding additional MLPA technique Uniformity of amplicons across samples 99,7% amplicons > 0,2 mean coverage (BRCA MASTR) Robust assay 100% precision is our aim (BRCA MASTR: 3 labs, 6 runs) Validated assays => CE marking Co-development with diagnostics expert labs 10
11 Gene panels (large or small)? Multiplicom CONFIDENTIAL
12 Human Genetics Germline assays Cancer Genetics Breast & Ovarian BRCA MASTR DX BRCA HP BRCA MAQ BRCA Hereditary Cancer MASTR Plus Colorectal HNPCC MASTR HNPCC HP FAP MASTR FAP HP Genetics Disorders Mucoviscidosis CFTR MASTR DX CFTR HP Inflammatory FMF MASTR Dx Muscular dystrophy DMD MASTR Diabetes MODY MASTR Eye diseases STARGARDT MASTR rpmastr Plus Kidney disorders ALPORT MASTR PKD MASTR Plus Cardio Disorders Hypertrophic cardiomyopathy HCM MASTR Hypercholesterolemia ADH MASTR Arrhythmias PED MASTR Plus Connective tissue MARFAN MASTR Bleeding disorder BLEDIS MASTR Plus 12
13 Human Genetics Germline assays Cancer Genetics Breast & Ovarian BRCA MASTR DX BRCA HP BRCA MAQ BRCA Hereditary Cancer MASTR Plus Colorectal HNPCC MASTR HNPCC HP FAP MASTR FAP HP Genetics Disorders Mucoviscidosis CFTR MASTR DX CFTR HP Inflammatory FMF MASTR Dx Muscular dystrophy DMD MASTR Diabetes MODY MASTR Eye diseases STARGARDT MASTR rpmastr Plus Kidney disorders ALPORT MASTR PKD MASTR Plus Cardio Disorders Hypertrophic cardiomyopathy HCM MASTR Hypercholesterolemia ADH MASTR Arrhythmias PED MASTR Plus Connective tissue MARFAN MASTR Bleeding disorder BLEDIS MASTR Plus 13
14 Hereditary Cancer MASTR Plus ATM BRIPI MEN1 MUTYH RAD50 XRCC2 BARD1 CDH1 MLH1 NBN RAD51C BRCA1 CHEK2 MRE11A PALB2 RAD51D BRCA2 EPCAM MSH2 PMS2 STK11 BLM FAM175 MSH6 PTEN TP53 Penetrance: HIGH LOW TBD Germline mutations assay related to several types of cancer SNV + CNV Core Genes: BRCA1/ BRCA2, CHEK2, PALB2, RAD51C, RAD51D, ATM, TP53, CDH1, NBN. 14
15
16 Onco Genetics Understanding the purpose of testing Tumor Molecular Profiling s goal: To develop a cancer treatment plan tailored (personalized) to the patient s needs by: Identify blueprint of each patient s tumor Choose most effective cancer treatment Discover potentially beneficial treatment options that may not have been considered in an initial treatment plan Multiplicom CONFIDENTIAL
17 Onco Genetics Overcoming challenges by creating new opportunities Sample limitations Clinical relevance of mutation test Quality assurance High turnaround time Implementation Cross lab validation Quality control test for assessment of DNA quality Liquid biopsy (CTC) Targeted therapies with approved specific companion diagnostic test Integrated genetic profiling Standardization 17
18 Understanding Treatment Options 18
19 Liquid biopsy Clinical Significance: Quantification of circulating tumor DNA (ctdna) when tumor tissue is difficult to obtain. 19
20 Multiplicom CONFIDENTIAL
21 Our approach to Molecular Diagnostics tumor molecular profiling
22 Onco Genetics SOMATIC ASSAYS CONTENTS TARGETS STATUS EGFR MASTR GIST MASTR BRCA Tumor MASTR Plus SOMATIC 1 MASTR v2 SOMATIC 2 MASTR Plus EGFR Hot spots exons RUO KIT 9,11,13,14,15,16,17 PDGFR 8, 10, 12, 14, 18 BRCA1, BBRCA2 NRAS, KRAS, BRAF-ex15 (Option BRAF full exon) PTEN, EGFR, PIK3CA, ERBB2, PIK3R1 Hot spots exons Full exon coverage Full exon coverage Full exon coverage RUO RUO RUO CE-IVD 2015 RUO QC-plex DNA-QC multiplex for FFPE 1 PCR mix, Taq RUO CLL MASTR Plus TP53, NOTCH1, SF3B1, BIRC3, ATM, XPO1, MYD88, F8XW7, POT1 Full exon coverage RUO 22
23 SOMATIC 3 MASTR Plus 26 cancer related genes AKT1 DDR2 FGFR3 IDH2 NRAS STK11 ALK EGFR H3F3A KIT PDGFRA BRAF ERBB2 HIST1H3B KRAS PIK1R1 CDKN2A ERBB4 HRAS MEK1 PIK3CA CTNNB1 FGFR2 IDH1 MET PTEN SOMATIC 1 SOMATIC 2 GIST SNV + CNA Estimated Product Launch: Q
24 Press release 24
25 Whatareyour Challenges? Needs? Questions? 25
26 Follow us on:
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