TRANSFORMING GLOBAL GENETIC DATA INTO MEDICAL DECISIONS
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1 TRANSFORMING GLOBAL GENETIC DATA INTO MEDICAL DECISIONS
2 THE DOORS ARE OPEN: FEEL FREE TO COME IN
3 CENTOGENE UNLOCKS THE POWER OF GENETIC INSIGHTS TO IMPROVE THE QUALITY OF LIFE OF PATIENTS WITH GENETIC DISEASES. We achieve this through: Knowledge created by our worldwide diagnostic testing services incorporating unprecedented global diversity The world s leading, proprietary human genetic interpretation database, CentoMD Solutions for pharmaceutical companies developing life-changing orphan drugs Maintaining the highest levels of accreditation to assure the best quality in our processes We are dedicated to transforming the science of genetic information into solutions and hope for patients and their families.
4 HOW CENTOGENE WORKS Our goal is the rapid medical diagnosis of inherited diseases, provided at the earliest possible moment as we turn analytical information into actionable results for physicians, patients and pharmaceutical partners. Our commitment to the global medical community is an early and precise diagnosis for continuous improvement of therapeutic options for each individual patient. Our work does not end with the identification of the genetic mutation behind a particular disorder. We continuously improve our services. Over 60 medical experts, human geneticists and researchers work together with partners worldwide. 4
5 ALL OVER THE WORLD PHYSICIANS AND PATIENTS VALUE OUR EXPERTISE IN HUMAN GENETIC TESTING STRATEGIC PHARMACEUTICAL ALLIANCES IN THE ORPHAN DRUGS SECTOR DIAGNOSTIC INDUSTRY KNOWLEDGE DRIVEN PRODUCTS ➋ Offering worldwide innovative genetic testing service. Developing comprehensive databases and a unique Creating new solutions for pharmaceutical companies (screening programs, companion diagnostics, early identification programs). Developing of unique IP, focusing on big data for the early diagnosis and long term monitoring of patients. biobank of patients material. 5
6 Statistics PROVEN BY NUMBERS Have a look behind the scenes. Not all of a company s value can be discovered at first sight. Convincing numbers are found everywhere that underline CENTOGENE s leading position as a globally acting biotech company. 6
7 5 AFFILIATES GLOBAL 13 DIFFERENT TECHNOLOGICAL PLATFORMS EMPLOYEES FROM 42 COUNTRIES SAMPLES FROM MORE THAN ,200 COUNTRIES WORLDWIDE EMPLOYEES CONFIRMED CASES OF FABRY DISEASE 40, SAMPLES PROCESSED IN JANUARY-JUNE 2017 MILLION UNIQUE GENETIC VARIANTS RATED IN CentoMD MILLION ALLELES IDENTIFIED 7
8 OUR GLOBAL FOOTPRINT One accompaniment of growth and expansion at CENTOGENE is the inauguration of new affiliates. As a cosmopolitical company we have a strong international footprint. 8
9 GROWN UP IN JUST A FEW YEARS Protein biomarkers MLPA >180 NGS panels Oncogenetics 2006 Diagnostics in neurogenetic diseases CentoCard The logistic solution qpcr Whole exome sequencing Whole genome sequencing Microarrays Non-invasive prenatal testing Transcriptomics CentoMD The mutation database High throughput genomic facility Pharmacogenomics 9
10 GENETIC TESTING: EFFICIENT, RELIABLE AND REASONABLE CentoCard Dried blood spot (DBS) filtercards for patient sample collection and shipment. The simplest way to ship biological samples as easy as mailing a postcard making genetic testing available anywhere in the world. 2h 10
11 CentoCard IN DETAIL: CentoCard is easy to handle: samples are stable once they dry and can be mailed directly by regular post Samples collected on CentoCard are not sensitive over time or to temperature, nor are they considered biohazardous CentoCard is usable for every analysis and testing method, including whole exome and whole genome sequencing CentoPortal Your solution for smarter diagnostics. CentoPortal is the user-friendly, online ordering and tracking portal designed to assist you at every step of processing your patients samples. From online ordering and sample submission through to receipt of the final clinical diagnostic report, CentoPortal is designed to save time and reduce overall workload. CentoPortal 11
12 TGA GAT ACT CGA TCG TCA GCT AAG TAG CCG CentoMD CentoMD is the world s largest mutation database for rare diseases. This virtual encyclopedia of genetic, clinical and epidemiological information is based on analyzed and fully curated samples from over 115 countries. It enables you to increase your diagnostic know-how and cross-reference multiple ethnic backgrounds with gender/age-specific clinical symptoms. CentoMD 4.0 is going to transform the future of genetics. Revealing the cause of a disease has an immediate impact on the patient. Using all available information allows physicians to diagnose and treat hereditary diseases in a much more efficient, speedy and targeted manner. 12
13 58% 42% > 135,000 Analysed cases > 3,200 Associated phenotypes 58% CentoMD 42% published Ratio of newly detected vs. previously published clinically relevant and uncertain variants > 925 Million Identified alleles > 4,5 Million Unique variants CentoMD is evidence-based. Behind every reported variant there is a clinical case analyzed at CENTOGENE by following a highly standardized workflow with accredited quality. CentoMD 4.0 is your simple six-step solution. Search, select and filter through genes, transcripts, and variants and end up with a detailed description including all associated data tailored to your needs. With CentoMD, you now have a virtual encyclopedia of genetic information, allowing you to diagnose and treat rare diseases in a much more efficient, speedy and targeted manner. 13
14 CentoXome For certain patients the combination of symptoms does not allow the clinician to pinpoint a potential diagnosis. Therefore, ordering genetic testing becomes complex and might involve a stepwise diagnostic strategy, which often significantly increases costs. Furthermore, a delayed diagnosis may have a dramatic impact on the patient s quality of life. KEY BENEFITS OF WHOLE EXOME SEQUENCING (WES) A cost-effective, one-step solution by sequencing the entire protein coding region of an individual s DNA (includes about 85% of all known disease causing mutations) WHEN IS WES RECOMMENDED? WES is especially recommended for patients with: Heterogeneous phenotypes Complex and unclear phenotypes CentoXome - HIGHEST QUALITY STANDARDS About 97-98% of coding regions are covered reliably Includes validation of the sequencing results and an extended clinical report 14
15 CentoGenome A comprehensive view of patients genetic data. Existing research and diagnosis of especially rare genetic diseases have been heavily biased towards mutations in coding regions of the gene - but this covers only 1% of a patient s entire genome. WGS identifies any changes in a patient s DNA by sequencing the entire coding and non-coding regions of the genome. It provides detailed information on the thousands of genes involved in normal growth and development and all of the silent genome regions simultaneously. CentoGenome brings conclusive diagnostic answers in the fastest, most reliable way: HETEROGENEOUS GENETIC DISORDER CONVENTIONAL GENETIC TESTING (Single gene sequencing, gene panel sequencing, CNVs testing, exome sequencing ) $ $ $ CentoGenome 28% DIAGNOSTIC REPORT? No answers? Answers! TEST METHOD DESCRIPTION LIKELIHOOD OF DETECTING A SPECIFIC MUTATION* INFORMATION CONTENT WHOLE EXOME SEQUENCING ANALYZES THE CODING PART OF THOUSANDS OF GENES SIMULTANEOUSLY >93.2% ~60 MB WHOLE GENOME SEQUENCING ANALYZES THE WHOLE GENOME >97.6% ~3.2 GB *within the targeted region 15
16 EARLY DETECTION MONITORING TREATMENT EFFECTIVENESS DISEASE RISK ASSESSMENT DIAGNOSTIC CLASSIFICATION FOR TREATMENT INITIATION Biomarker Enabling diagnosis, prediction and therapy monitoring. CENTOGENE s biomarkers Easy to be analyzed using DBS (dried blood spots) technology Linked to clinical manifestation Quantify easily and reliably in clinical samples Reflect realistically the burden of the disease Elucidate the molecular pathogenesis of the disease Reflect the therapeutic measure outcomes Novel mass-spectrometry (MS) based biomarkers for LSDs Proven world-class expertise in the identification of new biomarkers, validated in epidemiological clinical trials Established MS-based proprietary biomarker tests for Gaucher, Niemann-Pick type A/B and C, Fabry, Farber and Cystic Fibrosis Optimized and facilitated sample logistics with our CE labeled filtercards, CentoCard 16
17 BLOOD PLASMA DBS m/z ANALYTICAL VALIDATION Mass spectrometry CLINICAL VALIDATION Healthy controls, carriers, affected patients CLINICAL APPLICATION Prognosis, diagnosis, therapy GAUCHER DISEASE NIEMANN PICK TYPE A/B AND C DISEASE Examples FABRY DISEASE FARBER DISEASE CYSTIC FIBROSIS Benefits of CENTOGENE s biomarkers Analytical superiority Simplified logistics and analysis in blood, plasma, and DBS (CentoCard ) High sensitivity and specificity Clinical superiority Shortest TAT Interpretation by scientific and medical experts For more details: 17
18 CentoAcademy CentoAcademy is CENTOGENE s educational workshop series. Via lecture, seminar and hands-on multi-day courses, clinical scientists and physicians all over the world are given the opportunity to learn about: Cutting-edge diagnostic technologies Global best practices Research innovations Services Sharing our knowledge with our partners in personal seminars and workshops is the best basis for a good understanding of complex technological workflows. 18
19 CentoWebinar Wherever you are, connect with us live, or whenever it suits you, listen to topics of your interest in clinical diagnostics practice and research. At CENTOGENE, we established a free webinars series (live and on demand) on key developments in clinical diagnostics as well as giving insights into the latest research findings in the field of rare disease. Benefit from our renowned speakers and let us support you with daily routine implementation. 19
20 ACTIONS SPEAK LOUDER THAN WORDS CENTOGENE S SOCIAL RESPONSIBILITY CENTOGENE recognizes its social obligation and is undertaking active and initiates or supports projects for an early engagement and integrated communication with all people dealing with rare diseases. 20
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22 WE ANSWER ALL YOUR QUESTIONS We are continuously improving our services to meet the needs of our partners. Please do not hesitate to send us your inquiry, your feedback or your comments. We guarantee a reply to your inquiry within 24 hours maximum. All information are confidential and not transferable to a third party. We want to thank you for your time and most importantly your feedback. dmqc@centogene.com +49 (0)
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24 PLEASE VISIT OUR WEBSITE FOR MORE INFORMATION: CONTACT DETAILS: CENTOGENE AG Doreen Niemann Schillingallee Rostock Germany +49 (0) (0) CLIA #99D V2eng_August2017
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