Genalice B.V. the Netherlands

High  Technology  use  in  Healthcare  Efficient  use  of  big  data  analysis  

Genalice B.V. the Netherlands

Genalice B.V. the Netherlands confiden8al  

NO  INFINITE  PROBABILITY  DRIVE  INSIDE   UP  TO  200X  FASTER  THAN  CONVENTIONAL  TOOLS  

WE  HAVE  ALWAYS  THOUGHT  THERE  WAS  SOMETHING  FUNDAMENTALLY  WRONG  WITH  DNA  MAPPING  

THE  END  OF  THE  BIG  BAM  THEORY  

Company  Overview  &    Product  Informa7on  GENALICE  MAP  

Management  Team  

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JOCKEYS  

Hans  Karten  CEO  /  CTO  

Senior  Development  Oracle    

11  patents  on  high  volume  &  ultra-­‐fast  data  processing  

 

Founder/co-owner  

Jos  Lunenberg  Chief  Business  Officer  Master  Degree  Molecular  

Biology  &  MBA  Interna8onal  Marke8ng  Health/

Life  Science    

Co-owner  

       

Bert  Reijmerink  Chief  Strategy  Officer  Senior  Business  Developer  IT  

 

Expert  in  effec8ve  reseller  &  distributor  models  

 

Founder/co-owner  

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Highly  mo7vated  and  passionate  workforce    

TEAM  

Currently: 12 FTE

Excellent  support  and  network  Scien8fic  Advisory  board  

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Prof.  Edwin  Cuppen  UMC  Utrecht  

Expert  on  (gen)omics  research  

 

Prof.  Gerrit  Meijer  VUmc  Amsterdam  

Expert  on  transla8onal  molecular  medicine  

 

Serial  Entrepreneur  &  Investor    

!Ronald!Brus,!MD! ! ! !!!!!!!!!!!!!!!!!Prof.!Dr.!Jan!Oosterveld! ! !!!!!!!!!!Michiel!Muller,!MSc!

Former  CEO  of  Crucell   Former  MT  Member  Royal  Philips    

Strategic  Advisory  Board  

Expert  on  growing  biotechnology  companies  towards  an  IPO  

 

Expert  on  leading  and  supervising  technology  companies  

 

Expert  on  managing  SMEs  to  success  in  different  markets  

 

ADVISORS  

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OUR  DREAM  TO  SAVE  LIVES    AND  IMPROVE  QUALITY  OF  LIFE  OF  PATIENTS  WITH  COMPLEX  DISEASES    

MISSION  

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THE  DRIVE  

One  Size  Does  Not  Fit  All  

At  the  brink  of  the  BIGGEST  change  in  medicine    Enabled  through  advances  in  DNA  digitaliza8on  and  by  powerful    

data  analysis  

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THE  VISION  

Adapted  from  “The  Crea8ve  Destruc8on  of  Medicine”  by  Eric  Topol,  MD    

Cell  Phone  Personal  Computer  

Internet  

Digital  Devices  

Sequencing  

Social    Networks  

The  Great  Inflec7on  of  Medicine  

Accelera.on  of  Technology  

                       

1970 1980 1990 2000 2010 2020

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THE  ROUTE  TO  SUCCESS  

Targeted  treatment    based  on  molecular  profiling  is  the  solu8on  

Pa7ents  with  same  condi7on  DNA  Profiling  Pa7ents  with  same  condi7on  

Good  responders  

No  responders  

Bad  side  effects  

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Adapted from Technology Review, May/June 2012, ‘Bases to Bytes’ by Mike Orcutt

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As  sequencing  costs  are  plumme7ng  Cost  per  human  genome  

January  2014:  Illumina  introduced  the  HiSeq  XTM  Ten  €1,000  human  genome  and  extreme  throughput  

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DNA  data  digitaliza7on  is  skyrocke7ng  Number  of  sequenced  full  human  genomes  is  exploding  

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THE  MOMENTUM  

Adapted from Technology Review, May/June 2012, ‘Bases to Bytes’ by Mike Orcutt

High-­‐throughput  sequencing  goes  global  2,558  machines  in  920  centers  (an  average  of  2.8  machines  per  center)  

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High  volume  NGS  ini7a7ves  

▲  Illumina’s  launch  of  the  HiSeq  X  Ten  (10K/yr)  ▲  Update  reference  to  GRCh38  ▲  Genomics  England  (100K)  ▲  Million  Human  Genomes  Project  (China,  BGI)  ▲  Saudi  Human  Genome  Project  (100K)  ▲  Qatar  genome  (#  unknown)  ▲  Several  high  volume  US  based  ini8a8ves:  

-  100K  Foodborne  Pathogen  Genome  Project  -  Personal  Genome  Project  (100K)  -  The  Regeneron-­‐Geisinger  Gene8c  Research  Collabora8on  (100K)    -  Pediatric  Cancer  Genome  Project  (600)  -  NHGRI  Genome  Sequencing  Program    

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THE  MOMENTUM  

NGS  data  processing  &  analysis  workflow  GENALICE  product  proposi8ons  

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OUR  SOLUTIONS  

GENALICE MAP

GENALICE LINK

Downstream  analysis  

Individual NGS data analyses

Clinical  Decision    Support  

Preprocessing  Next  

Genera7on    Sequencing  

 

Correlation with other domains

&  

GENALICE CHECK

Next-­‐Genera7on  Sequencing  data  processing    GENALICE  MAP  components  

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OUR  SOLUTIONS  

Pre-­‐processing  

Components Alignment Variant calling Annotation

Description Mapping individual reads on right position

Statistical correction of detected variants

Variant qualification and association with existing knowledge

Processing time: Current ±32 hours ±18 hours few minutes

MAP ±22 min ±5 min few minutes

Becer  quality  in  a  direct  comparison  to  widely  used  tool  

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PERFORMANCE  

Sample   BWA  concordant  (%)  

GENALICE  MAP  concordant  (%)   Difference  (%)  

20_GTGGCC   92.4   94.2   +1.8  

21_GTTTCG   78.0   84.6   +6.6  

22_CGTACG   94.8   95.3   +0.5  

23_GAGTGG   93.5   94.5   +1.0  

25_ACTGAT   94.8   95.2   +0.4  

27_ATTCCT   94.7   95.2   +0.5  

Stellar  alignment  performance  I    Significant  speed  gain*    

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PERFORMANCE  

* Exact performance is related to the distance between the reference and the specific sample

Stor

age

redu

ctio

n (fo

ld c

hang

e)

Human1000 genomes

Cultivatedtomato

Wildtomato

0

25

50

75

100

100x

71x

15x

Stellar  alignment  performance  II    Spectacular  storage  space  reduc8on*    

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PERFORMANCE  

Valida7on  &  tes7monial  

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PERFORMANCE  

Center Species Status Method

KeyGene Plant Completed (+) PoC study

Erasmus MC Human Completed (+) PoC study

Oxford BRC Human Completed (+) PoC study

Direct  access  to  the  clinic  GENALICE  CHECK  

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OUR  SOLUTIONS  

Clinical  Decision  Support  

Clinical Application

Digital molecular

diagnosis

Product  configura7ons  Scalable  &  cost-­‐effec7ve  turn-­‐key  solu7ons  

▲  MAP  server  (alignment  &  variant  calling)  ▲  ADMIN  server  (workflow  management)  ▲  INSPECT  (real-­‐8me  monitoring)  

▲  Reduced  output  format  (GAR)  ▲  GAR  to  SAM/BAM  converter  

▲  Storage  on  board  (incl.  SSDs)  ▲  Embedded  database    ▲  Graphical  User  Interface  ▲  High  level  security  ▲  GAR  toolbox  for  real-­‐8me  use  in  

downstream  analysis  tools  

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PRODUCT  PROPOSITION  

#HGE37 = Human Genome Equivalents with an average of 37x coverage sequenced *Each MAP server only contains a dual standard INTEL XEON Processor E5-2620

 Market  Poten7al  

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Sales    

29% CAGR

NGS Alignment

18-21% CAGR

Sequencing 12%

CAGR

Molecular Diagnostics

“One of the key challenges in the market is data integration and downstream analysis”. (Frost & Sullivan)

21-26% CAGR

Bioinformatics

(McKinsey)

Clinical drug development opportunity (complex diseases only) • 3,752 (of which 1,408 industry sponsored) phase III-IV trials ongoing • Whole Genome Sequencing potential of 720,400 in total • Annual GENALICE MAP potential of 129M (alignment & VC only)

Time  

THE  MARKET  

9.1B in 2018

6.6B in 2016

65B in 2018

Compe77ve  environment  MAP  A  crowded  &  scacered  market  space…  

▲  Open  source  tools  

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Software Hardware

Open Source

Commercial

Complementary

▲  Commercial  specific  hardware  solu7ons  

▲  Sooware  solu7ons/suites  ▲  Consultancy  services  ▲  Turnkey  appliances  

▲  Sooware  suites  included  in  NGS  machines  by  its  vendors  

Cloud enabled

FPGA accelerated

▲  Cloud  services  ▲  Cloud  plaporm  

Compe77ve  environment  MAP  …with  many  players  

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Software Hardware

Open Source

Commercial

Complementary

Cloud enabled

FPGA accelerated

BowTie2, BWA

Compe77ve  environment  MAP  …but  also  one  with  significant  room  for  improvement  

Speed  

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Format  (C/E)  Accuracy  

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Crowded & scattered market

Standardization & one/two winners

Typical  innova7on  adap7on  curve  of  new  technologies  

THE  NATURAL  SELECTION  

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Catalysts:  ▲  Superior  product  ▲  Market  condi8ons  ▲  Influence  at  right  level  ▲  Sufficient  resources  

Innova7on  adap7on  curve  in  our  market  

THE  NATURAL  SELECTION  

Crowded & scattered market

NGS  data  needs  to  show  its  clinical  value    

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2017

Clinical proof

No clinical proof

THE  CSF  

What  do  we  need  

▲  Influence  –  Backing  -­‐  Body  

▲  Space  to  excel  

▲  Funding  to  accelerate  and  win:  •  Series  A  round  investments  completed  •  First  mee8ngs  for  series  B  round  (VC)  investments  held  •  Interested  in  a  bridge  to  series  B  

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NEXT  STEPS  

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Global  Launch  

42andMoore  –  serng  new  unofficial  WR  

▲  Sta8s8cs  •  42  full  human  genomes  in  17  hours  and  38  minutes  •  42  full  tomato  genomes  in  6  hours  and  8  minutes  •  CPU%:  43.90%  •  Speed:  90.96  Megabases/second  •  Input:  17,227GB  •  Output:  327GB