tero-pekka alastalo - blueprint genetics - stanford engineering - jan 4 2016
TRANSCRIPT
Tero-Pekka Alastalo, MD, PhD President, Chief Medical Officer
European Entrepreneurship & Innovation
Stanford School of Engineering 4 Jan 2016
http://blueprintgenetics.com
• We are a genetic diagnostics company founded in Helsinki, Finland • Proprietary NGS sequencing method, OS-Seq, developed at
Stanford University by a Finnish DNA biologists Samuel Myllykangas, published in Nature Biotechnology
• OS-Seq represents the most effective targeted sequencing technology in the market – developed for medical applications
Background
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Stanford University Oligonucleotid-selective
sequencing OS-Seq™
Nature Biotechnology 2011
OS-SeqTM Technology �hybrid selection and enrichment on flow cell
SEQUENCING �LIBRARY
RANDOM SHEARING
Day 1
TARGET ENRICHMENT
and SEQUENCING
SEQUENCING LIBRARY
Target enrichment on flow cell
Sequencing on Illumina system
Sequencing library
Oligonucleotide library
PREPARATION
Capture of genomic targets in situ Flow cell Fully integrated target enrichment and sequencing
PROCESSING SEQUENCING
Days 1 - 3
Illumina(TruSight BpG(OS3Seq BpG(PCR3free(OS3Seq
Manual&steps 15 7 5
Hands0on&time 4h&45min 1h&45min 1h&15min
Total&time 52h 5h&45&min 4h
Illumina(TruSight
BpG(OS3Seq
BpG(PCR3free(OS3Seq
Reaction(set3upFragmentationTagmentationEnd(repair(and(A3tailingClean3upLigationPCRHybridizationPull3down
DAY$2 DAY$3DAY$1
• OS-Seq has 63% (with PCR) or 74% (PCR-free) faster hands-on time • OS-Seq has 89% (with PCR) or 92% (PCR-free) faster total time
Workflow�
A Top Product with Lowest COGS
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Developed in Stanford and published in
Nature, our OS-Seq method
provides extreme efficiency for sequencing
World’s first IBM Watson-platform
for inherited disorders takes
the clinical interpretation of data to a next
level
We have industry’s lowest
COGS
>60% SAVINGS**
60-80% LESS LAB WORK**
** Compared to Illumina TruSight
High reliability data with 99-100%
coverage
Our Process
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A physician sends us a
sample
We sequence the DNA with
our cost efficient �OS-Seq method
yielding high coverage
We interpret the the data clinically
with our IBM Watson based big
data platform
We send a report online and get a payment
SAMPLE SEQUENCING ANALYSIS REPORT
Solving the Problems
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Customers are frustrated:
Solving all of these problems is a revolution:
Difficult to communicate with testing laboratory
High non-transparent pricing; Unclear billing policies
Turnaround times are too long
Diagnostic yield is poor, too many
false negatives due to small panels and
low sequencing coverage
We focus highly on clinical specialties, our geneticists provide clinical support
in the report
Due to extremely low production cost we are able to lead price development and
have an aggressive �Max-out-of-pocket policy
We run a turnaround time of 3 weeks, not several months
We have the best diagnostic yield in the market due to comprehensive panels and high sequencing coverage
Fast lead time
21 DAYS
Coverage
100%
Starting at
$1500
Gapless panels fully cover target genes
Genetic diagnostics with unbeatable turn-around
time
New technology and innovations allow remarkable cost-
efficiency
142 Hospitals in 18 Countries
Over 4000 disease with known molecular genetic background, >36 million patients in Europe
Cancer diagnostics and targeted treatment
Pharmacogenomics – essential tool for todays’s drug development
Genetics Is Changing Medicine
We Are in a Unique Position For Growth in an Exploding Market
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NGS in inherited disorders grows to a
$1.5Bn market by 2020*
$308m in 2015
Inherited disorders is a large healthcare problem, affecting 5% of population and driving healthcare costs. We have the best product and the lowest production cost.
Inherited disorder diagnostics is a huge
growth market with 38% CAGR for the next five
years
* Source: BCC Research, BIO126B Next-Gen Sequencing - Emerging Clinical Applications and Global Markets
THANK YOU!
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Tero-Pekka Alastalo, President +1 650 285 8564 [email protected] 953 Indiana Street, QB3@953 CA 94107 San Francisco