Top Banner
TRANSFORMING GLOBAL GENETIC DATA INTO MEDICAL DECISIONS
24

TRANSFORMING GLOBAL GENETIC DECISIONS...clinical diagnostics practice and research. At CENTOGENE, we established a free webinars series (live and on demand) on key developments in

Jun 05, 2020

Download

Documents

dariahiddleston
Welcome message from author
This document is posted to help you gain knowledge. Please leave a comment to let me know what you think about it! Share it to your friends and learn new things together.
Transcript
Page 1: TRANSFORMING GLOBAL GENETIC DECISIONS...clinical diagnostics practice and research. At CENTOGENE, we established a free webinars series (live and on demand) on key developments in

TRANSFORMINGGLOBAL GENETIC DATA INTO MEDICAL DECISIONS

Page 2: TRANSFORMING GLOBAL GENETIC DECISIONS...clinical diagnostics practice and research. At CENTOGENE, we established a free webinars series (live and on demand) on key developments in

THE DOORSARE OPEN:FEEL FREE

TO COME IN

Page 3: TRANSFORMING GLOBAL GENETIC DECISIONS...clinical diagnostics practice and research. At CENTOGENE, we established a free webinars series (live and on demand) on key developments 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.

Page 4: TRANSFORMING GLOBAL GENETIC DECISIONS...clinical diagnostics practice and research. At CENTOGENE, we established a free webinars series (live and on demand) on key developments in

4

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

Page 5: TRANSFORMING GLOBAL GENETIC DECISIONS...clinical diagnostics practice and research. At CENTOGENE, we established a free webinars series (live and on demand) on key developments in

5

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.

1 2 3

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

Page 6: TRANSFORMING GLOBAL GENETIC DECISIONS...clinical diagnostics practice and research. At CENTOGENE, we established a free webinars series (live and on demand) on key developments in

6

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

Page 7: TRANSFORMING GLOBAL GENETIC DECISIONS...clinical diagnostics practice and research. At CENTOGENE, we established a free webinars series (live and on demand) on key developments in

7

5

EMPLOYEES CONFIRMED CASES OF FABRY DISEASE

13

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

Page 8: TRANSFORMING GLOBAL GENETIC DECISIONS...clinical diagnostics practice and research. At CENTOGENE, we established a free webinars series (live and on demand) on key developments in

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.

Page 9: TRANSFORMING GLOBAL GENETIC DECISIONS...clinical diagnostics practice and research. At CENTOGENE, we established a free webinars series (live and on demand) on key developments in

9

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

Page 10: TRANSFORMING GLOBAL GENETIC DECISIONS...clinical diagnostics practice and research. At CENTOGENE, we established a free webinars series (live and on demand) on key developments in

10

✔›2h

›››

››

››

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

Page 11: TRANSFORMING GLOBAL GENETIC DECISIONS...clinical diagnostics practice and research. At CENTOGENE, we established a free webinars series (live and on demand) on key developments in

11

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

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:

Page 12: TRANSFORMING GLOBAL GENETIC DECISIONS...clinical diagnostics practice and research. At CENTOGENE, we established a free webinars series (live and on demand) on key developments in

12

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.

Page 13: TRANSFORMING GLOBAL GENETIC DECISIONS...clinical diagnostics practice and research. At CENTOGENE, we established a free webinars series (live and on demand) on key developments in

13

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

Page 14: TRANSFORMING GLOBAL GENETIC DECISIONS...clinical diagnostics practice and research. At CENTOGENE, we established a free webinars series (live and on demand) on key developments in

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

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.

Page 15: TRANSFORMING GLOBAL GENETIC DECISIONS...clinical diagnostics practice and research. At CENTOGENE, we established a free webinars series (live and on demand) on key developments in

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%

DIAGNOSTICREPORT

$ $

$

?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

Page 16: TRANSFORMING GLOBAL GENETIC DECISIONS...clinical diagnostics practice and research. At CENTOGENE, we established a free webinars series (live and on demand) on key developments in

16

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

Page 17: TRANSFORMING GLOBAL GENETIC DECISIONS...clinical diagnostics practice and research. At CENTOGENE, we established a free webinars series (live and on demand) on key developments in

17

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

Page 18: TRANSFORMING GLOBAL GENETIC DECISIONS...clinical diagnostics practice and research. At CENTOGENE, we established a free webinars series (live and on demand) on key developments in

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.

Page 19: TRANSFORMING GLOBAL GENETIC DECISIONS...clinical diagnostics practice and research. At CENTOGENE, we established a free webinars series (live and on demand) on key developments in

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.

Page 20: TRANSFORMING GLOBAL GENETIC DECISIONS...clinical diagnostics practice and research. At CENTOGENE, we established a free webinars series (live and on demand) on key developments in

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

ACTIONS SPEAKLOUDER THAN

WORDS

Page 21: TRANSFORMING GLOBAL GENETIC DECISIONS...clinical diagnostics practice and research. At CENTOGENE, we established a free webinars series (live and on demand) on key developments in
Page 22: TRANSFORMING GLOBAL GENETIC DECISIONS...clinical diagnostics practice and research. At CENTOGENE, we established a free webinars series (live and on demand) on key developments in

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.

[email protected]+49 (0)381 203 652 - 222

Page 23: TRANSFORMING GLOBAL GENETIC DECISIONS...clinical diagnostics practice and research. At CENTOGENE, we established a free webinars series (live and on demand) on key developments in
Page 24: TRANSFORMING GLOBAL GENETIC DECISIONS...clinical diagnostics practice and research. At CENTOGENE, we established a free webinars series (live and on demand) on key developments in

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