transforming global genetic decisions...clinical diagnostics practice and research. at centogene, we...
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TRANSFORMINGGLOBAL GENETIC DATA INTO MEDICAL DECISIONS
THE DOORSARE OPEN:FEEL FREE
TO COME IN
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.
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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.
HOW CENTOGENE WORKS
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Developing of unique IP, focusing on big data for the early diagnosis and long term monitoring of patients.
Creating new solutions for pharmaceutical companies (screening programs, companion diagnostics, early identification programs).
➋Offering worldwide innovative genetic testing service.
Developing comprehensive databases and a unique biobank of patients‘ material.
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KNOWLEDGE DRIVENPRODUCTS
INDUSTRY
DIAGNOSTIC
ALL OVER THE WORLD PHYSICIANS AND
PATIENTS VALUE OUR EXPERTISE IN HUMAN
GENETIC TESTING
STRATEGIC PHARMACEUTICAL ALLIANCES IN THE ORPHAN DRUGS
SECTOR
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Statistics
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.
PROVEN BY NUMBERS
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EMPLOYEES CONFIRMED CASES OF FABRY DISEASE
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4,200
40,000
42DIFFERENT TECHNOLOGICAL PLATFORMS
EMPLOYEES FROM
COUNTRIES
115 280SAMPLES FROM MORE THAN
COUNTRIES WORLDWIDE
AFFILIATES GLOBAL
SAMPLES PROCESSED IN JANUARY-JUNE 2017
4.5 925MILLION UNIQUE GENETIC VARIANTS RATED IN CentoMD®
MILLION ALLELES IDENTIFIED
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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.
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2006Diagnostics in neurogenetic diseases
qPCR Whole exome sequencing
Oncogenetics
>180 NGS panelsProtein biomarkers
2016+
Pharmacogenomics
Whole genome sequencing
CentoMD®The mutation database
Non-invasive prenatal testingMicroarrays Transcriptomics
High throughput genomic facility
CentoCard® The logistic solution
MLPA
GROWN UP IN JUST A FEW YEARS
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✔›2h
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›
››
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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.
GENETIC TESTING: EFFICIENT,
RELIABLE AND REASONABLE
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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
2h
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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.
CentoCard® IN DETAIL:
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TGA
TAG
ACT
TCG
GCT
CCGAAG
TCA
CGA
GAT
TGA
TAG
ACT
TCG
GCT
CCGAAG
TCA
CGA
GAT
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.
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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.
Associated phenotypes> 3,200
Analysed cases> 135,000
Unique variants> 4,5 Million
Identified alleles> 925 Million
Ratio of newly detected vs. previously published clinically relevant and uncertain variants
58% CentoMD®
58% 42%
42% published
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)
WES is especially recommended for patients with: › Heterogeneous phenotypes › Complex and unclear phenotypes
WHEN IS WES RECOMMENDED?
CentoXome® - HIGHEST QUALITY STANDARDS
› About 97-98% of coding regions are covered reliably › Includes validation of the sequencing results and an
extended clinical report
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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.
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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%
DIAGNOSTICREPORT
✚
$ $
$
?No answers?
✚ ✚
Answers!
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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
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Biomarker
Enabling diagnosis, prediction and therapy monitoring.
CENTOGENE’s biomarkers Novel mass-spectrometry (MS) basedbiomarkers for LSDs
››› ›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
››› ›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®
EARLYDETECTION
DISEASE RISK ASSESSMENT
DIAGNOSTIC CLASSIFICATION FOR
TREATMENT INITIATION
MONITORING TREATMENT
EFFECTIVENESS
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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: www.clinicaltrials.gov
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
FABRY DISEASE
FARBER DISEASE
CYSTIC FIBROSIS
BLOOD PLASMADBS
Exam
ples
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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.
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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.
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.
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ACTIONS SPEAKLOUDER THAN
WORDS
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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.
[email protected]+49 (0)381 203 652 - 222
CLIA #99D2049715
V2en
g_Au
gust
2017
[email protected]+49 (0)381 203 652 - 222+49 (0)381 203 652 - 119
PLEASE VISIT OUR WEBSITE FOR MORE INFORMATION:
www.centogene.com
CONTACT DETAILS:
CENTOGENE AGDoreen NiemannSchillingallee 6818057 Rostock Germany