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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
2
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(set3up
Fragmentation
Tagmentation
End(repair(and(A3tailing
Clean3up
Ligation
PCR
Hybridization
Pull3down
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
5
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
6
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
7
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
10
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!
11
Tero-Pekka Alastalo, President
+1 650 285 8564
tpa@blueprintgenetics.com
953 Indiana Street, QB3@953
CA 94107 San Francisco

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Tero-Pekka Alastalo - Blueprint Genetics - Stanford Engineering - Jan 4 2016

  • 1. Tero-Pekka Alastalo, MD, PhD President, Chief Medical Officer European Entrepreneurship & Innovation Stanford School of Engineering 4 Jan 2016 http://blueprintgenetics.com
  • 2. •  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 2 Stanford University Oligonucleotid- selective sequencing OS-Seq™ Nature Biotechnology 2011
  • 3. 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
  • 4. 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(set3up Fragmentation Tagmentation End(repair(and(A3tailing Clean3up Ligation PCR Hybridization Pull3down 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
  • 5. A Top Product with Lowest COGS 5 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
  • 6. Our Process 6 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
  • 7. Solving the Problems 7 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
  • 8. 142 Hospitals in 18 Countries
  • 9. 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
  • 10. We Are in a Unique Position For Growth in an Exploding Market 10 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
  • 11. THANK YOU! 11 Tero-Pekka Alastalo, President +1 650 285 8564 tpa@blueprintgenetics.com 953 Indiana Street, QB3@953 CA 94107 San Francisco