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Genomics:	
  
Big	
  Data	
  Leading	
  to	
  Big	
  Opportunities	
  
Hannes	
  Smarason
Genome	
  Sequencing	
  |Personalized	
  Medicine	
  |	
  Transforming	
  Health	
  Care
The	
  Big	
  Data	
  of	
  Genomics
• We	
  are	
  in	
  the	
  midst	
  of	
  an	
  explosion	
  of	
  ‘Big	
  Data’	
  in	
  a	
  variety	
  of	
  
human	
  endeavors:	
  
– Roughly	
  2.5	
  quintillion	
  bytes	
  of	
  data	
  are	
  generated	
  every	
  day;	
  and
– 90%	
  of	
  the	
  world’s	
  data	
  was	
  created	
  in	
  the	
  last	
  two	
  years.
• Genomics	
  has	
  become	
  a	
  major	
  source	
  of	
  the	
  growth	
  of	
  such	
  
big	
  data,	
  particularly	
  as	
  the	
  cost	
  of	
  sequencing	
  genomes	
  has	
  
plummeted
source:	
  http://www-­‐01.ibm.com/software/data/bigdata/what-­‐is-­‐big-­‐data.html
Genomics:	
  Driving	
  the	
  
Exponential	
  Growth	
  of	
  Big	
  Data
• The	
  raw	
  sequence	
  data	
  for	
  just	
  one	
  person’s	
  whole	
  genome	
  use	
  as	
  much	
  as	
  100GB	
  –
and	
  already	
  hundreds	
  of	
  thousands	
  of	
  individual	
  genomes	
  have	
  been	
  sequenced.	
  	
  
– With	
  more	
  than	
  2,500	
  high-­‐throughput	
  sequencing	
   instruments	
  currently	
  used	
  in	
  55	
  countries	
  across	
  the	
  
globe,	
  more	
  genomes	
  are	
  added	
  every	
  daya
– The	
  aggregate	
  amount	
  of	
  genomic	
  data	
  is	
  growing	
  explosively,	
  and	
  NGS	
  sequencing	
   data	
  are	
  estimated	
   to	
  
have	
  doubled	
  in	
  volume	
  annually	
  since	
  2007b
• Impressive	
  population-­‐wide	
  sequencing	
  efforts	
  are	
  leading	
  the	
  way,	
  from	
  100,000	
  
genomes	
  in	
  England,	
  Saudi	
  Arabia,	
  and	
  Iceland	
  to	
  350,000	
  in	
  Qatar	
  to	
  a	
  million	
  in	
  both	
  
China	
  and	
  the	
  U.S.	
  
• And	
  earlier	
  this	
  month,	
  the	
  CEO	
  of	
  the	
  Cleveland	
  Clinic	
  predicted	
  that	
  soon	
  children	
  will	
  
routinely	
  have	
  their	
  whole	
  genomes	
  sequenced	
  at	
  birth,	
  implying	
  a	
  near-­‐future	
  in	
  which	
  
10s	
  of	
  millions	
  of	
  new	
  genomes	
  are	
  sequenced	
  annually.c
• sources:	
  a
http://omicsmaps.com/;	
  b
http://www.genengnews.com/issue/toc/248/;	
  c
http://www.cnbc.com/2015/10/30/gene-­‐testing-­‐set-­‐for-­‐major-­‐breakthrough-­‐clinic-­‐ceo.html
Creating	
  Big	
  Data	
  is	
  
Just	
  the	
  Beginning
• Analysis	
  of	
  big	
  data	
  in	
  genomics	
  and	
  associated	
  informatics	
  is	
  
already	
  generating	
  significant	
  progress	
  in	
  cancer	
  care	
  and	
  the	
  
diagnosis	
  of	
  rare	
  diseases.	
  
• Yet	
  there	
  is	
  a	
  broad	
  consensus	
  that	
  a	
  ‘data	
  bottleneck’	
  is	
  
hampering	
  the	
  collaboration	
  and	
  discovery	
  that	
  could	
  
continue	
  to	
  revolutionize	
  heathcare.	
  
• In	
  order	
  to	
  use	
  genetic	
  information	
  to	
  prevent	
  or	
  treat	
  
disease,	
  researchers	
  and	
  physicians	
  need	
  resources	
  that:
– Draw	
  together	
  useful	
  data	
  from	
  disparate	
  sources;	
  
– Facilitate	
  analysis	
  and	
  collaboration;	
  and
– Improve	
  clinical	
  practice.	
  
Turning	
  Data	
  into	
  Resources
• The	
  power	
  of	
  genomic	
  analysis	
  needs	
  to	
  expand	
  outward:
– from	
  major	
  research	
  centers	
  and	
  hospitals	
  
– to	
  the	
  myriad	
  clinics	
  and	
  community	
  hospitals	
  where	
  many	
  patients	
  receive	
  care.	
  	
  
• To	
  have	
  the	
  greatest	
  impact	
  on	
  the	
  broadest	
  population,	
  clinicians	
  
throughout	
  the	
  world’s	
  health	
  systems	
  need	
  access	
  to	
  the	
  big	
  data	
  
generated	
  by	
  DNA	
  sequencing,	
  even	
  – or	
  perhaps	
  especially	
  – if	
  they	
  
are	
  not	
  affiliated	
  with	
  research	
  institutions.	
  
• And	
  along	
  with	
  access,	
  they	
  need	
  tools	
  to	
  analyze	
  and	
  interpret	
  the	
  
data.
Answers	
  in	
  the	
  Cloud
• Key	
  medical	
  advancements	
  require	
  not	
  only	
  big	
  data,	
  but	
  also	
  tools	
  and	
  
resources	
  to	
  generate,	
  interpret,	
  and	
  share	
  analysis	
  of	
  millions	
  of	
  genomes.	
  	
  
• Cloud-­‐based	
  platforms	
  – such	
  as	
  WuXi NextCODE’s Exchange	
  – are	
  essential	
  
to	
  address	
  the	
  fundamental	
  big	
  data	
  challenge	
  of	
  genomics:	
  leveraging	
  
massive	
  datasets	
  to	
  improve	
  patient	
  care	
  in	
  the	
  clinic.	
  	
  
• Collaboration	
  in	
  the	
  cloud	
  works	
  to	
  dismantle	
  existing	
  ‘data	
  silos,’	
  genomic	
  
information	
  hosted	
  only	
  on	
  local	
  servers	
  and	
  analyzed	
  on	
  idiosyncratic,	
  
closed	
  platforms.	
  	
  
• The	
  WuXi NextCODE Exchange,	
  in	
  contrast,	
  is	
  a	
  browser-­‐based	
  hub	
  that:
– affords	
  secure,	
  seamless	
  collaboration	
  with	
  colleagues	
  around	
  the	
  world;	
  
– provides	
  access	
  to	
  NextCODE’s tools	
  for	
  making	
  the	
  critical	
  links	
  between	
  variation	
  in	
  the	
  
genome	
  and	
  disease	
  and	
  other	
  phenotypes;	
   and
– supports	
  analysis	
  with	
  harmonized	
  links	
  to	
  the	
  the	
  most	
  important	
  
public	
  reference	
  data.
The	
  Evolution	
  of	
  
Genomic	
  Analysis
• The	
  big	
  data	
  of	
  genomics	
  will	
  continue	
  to	
  expand,	
  and	
  our	
  approaches	
  to	
  
analyzing	
  genomic	
  data	
  need	
  to	
  continue	
  to	
  evolve	
  to	
  meet	
  the	
  growing	
  
demands	
  of	
  clinicians	
  and	
  researchers.	
  	
  
• At	
  WuXi NextCODE:
– We	
  are	
  building	
   upon	
  our	
  heritage	
  of	
  conducting	
  the	
  largest	
  analysis	
  of	
  
genomic	
  data	
  (deCODE’s path-­‐breaking	
  Icelandic	
  analysis)	
  by	
  assembling	
  an	
  
ever-­‐growing	
  database	
  of	
  human	
  genomes.	
  	
  
– We	
  are	
  committed	
  to	
  driving	
  the	
  movement	
  of	
  sequence	
  data	
  into	
  patient	
  
diagnosis	
  and	
  care	
  through	
   user-­‐friendly,	
   leading-­‐edge	
  analysis	
  and	
  informatics.	
  	
  
• I	
  am	
  confident	
  that	
  data	
  analysis	
  and	
  collaboration	
  in	
  the	
  cloud	
  will	
  
revolutionize	
  healthcare,	
  and	
  exceptionally	
  proud	
  that	
  WuXi NextCODE’s
Exchange	
  is	
  at	
  the	
  forefront	
  of	
  this	
  exciting	
  advancement.

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Genomics: Big Data Leading to Big Opportunities

  • 1. Genomics:   Big  Data  Leading  to  Big  Opportunities   Hannes  Smarason Genome  Sequencing  |Personalized  Medicine  |  Transforming  Health  Care
  • 2. The  Big  Data  of  Genomics • We  are  in  the  midst  of  an  explosion  of  ‘Big  Data’  in  a  variety  of   human  endeavors:   – Roughly  2.5  quintillion  bytes  of  data  are  generated  every  day;  and – 90%  of  the  world’s  data  was  created  in  the  last  two  years. • Genomics  has  become  a  major  source  of  the  growth  of  such   big  data,  particularly  as  the  cost  of  sequencing  genomes  has   plummeted source:  http://www-­‐01.ibm.com/software/data/bigdata/what-­‐is-­‐big-­‐data.html
  • 3. Genomics:  Driving  the   Exponential  Growth  of  Big  Data • The  raw  sequence  data  for  just  one  person’s  whole  genome  use  as  much  as  100GB  – and  already  hundreds  of  thousands  of  individual  genomes  have  been  sequenced.     – With  more  than  2,500  high-­‐throughput  sequencing   instruments  currently  used  in  55  countries  across  the   globe,  more  genomes  are  added  every  daya – The  aggregate  amount  of  genomic  data  is  growing  explosively,  and  NGS  sequencing   data  are  estimated   to   have  doubled  in  volume  annually  since  2007b • Impressive  population-­‐wide  sequencing  efforts  are  leading  the  way,  from  100,000   genomes  in  England,  Saudi  Arabia,  and  Iceland  to  350,000  in  Qatar  to  a  million  in  both   China  and  the  U.S.   • And  earlier  this  month,  the  CEO  of  the  Cleveland  Clinic  predicted  that  soon  children  will   routinely  have  their  whole  genomes  sequenced  at  birth,  implying  a  near-­‐future  in  which   10s  of  millions  of  new  genomes  are  sequenced  annually.c • sources:  a http://omicsmaps.com/;  b http://www.genengnews.com/issue/toc/248/;  c http://www.cnbc.com/2015/10/30/gene-­‐testing-­‐set-­‐for-­‐major-­‐breakthrough-­‐clinic-­‐ceo.html
  • 4. Creating  Big  Data  is   Just  the  Beginning • Analysis  of  big  data  in  genomics  and  associated  informatics  is   already  generating  significant  progress  in  cancer  care  and  the   diagnosis  of  rare  diseases.   • Yet  there  is  a  broad  consensus  that  a  ‘data  bottleneck’  is   hampering  the  collaboration  and  discovery  that  could   continue  to  revolutionize  heathcare.   • In  order  to  use  genetic  information  to  prevent  or  treat   disease,  researchers  and  physicians  need  resources  that: – Draw  together  useful  data  from  disparate  sources;   – Facilitate  analysis  and  collaboration;  and – Improve  clinical  practice.  
  • 5. Turning  Data  into  Resources • The  power  of  genomic  analysis  needs  to  expand  outward: – from  major  research  centers  and  hospitals   – to  the  myriad  clinics  and  community  hospitals  where  many  patients  receive  care.     • To  have  the  greatest  impact  on  the  broadest  population,  clinicians   throughout  the  world’s  health  systems  need  access  to  the  big  data   generated  by  DNA  sequencing,  even  – or  perhaps  especially  – if  they   are  not  affiliated  with  research  institutions.   • And  along  with  access,  they  need  tools  to  analyze  and  interpret  the   data.
  • 6. Answers  in  the  Cloud • Key  medical  advancements  require  not  only  big  data,  but  also  tools  and   resources  to  generate,  interpret,  and  share  analysis  of  millions  of  genomes.     • Cloud-­‐based  platforms  – such  as  WuXi NextCODE’s Exchange  – are  essential   to  address  the  fundamental  big  data  challenge  of  genomics:  leveraging   massive  datasets  to  improve  patient  care  in  the  clinic.     • Collaboration  in  the  cloud  works  to  dismantle  existing  ‘data  silos,’  genomic   information  hosted  only  on  local  servers  and  analyzed  on  idiosyncratic,   closed  platforms.     • The  WuXi NextCODE Exchange,  in  contrast,  is  a  browser-­‐based  hub  that: – affords  secure,  seamless  collaboration  with  colleagues  around  the  world;   – provides  access  to  NextCODE’s tools  for  making  the  critical  links  between  variation  in  the   genome  and  disease  and  other  phenotypes;   and – supports  analysis  with  harmonized  links  to  the  the  most  important   public  reference  data.
  • 7. The  Evolution  of   Genomic  Analysis • The  big  data  of  genomics  will  continue  to  expand,  and  our  approaches  to   analyzing  genomic  data  need  to  continue  to  evolve  to  meet  the  growing   demands  of  clinicians  and  researchers.     • At  WuXi NextCODE: – We  are  building   upon  our  heritage  of  conducting  the  largest  analysis  of   genomic  data  (deCODE’s path-­‐breaking  Icelandic  analysis)  by  assembling  an   ever-­‐growing  database  of  human  genomes.     – We  are  committed  to  driving  the  movement  of  sequence  data  into  patient   diagnosis  and  care  through   user-­‐friendly,   leading-­‐edge  analysis  and  informatics.     • I  am  confident  that  data  analysis  and  collaboration  in  the  cloud  will   revolutionize  healthcare,  and  exceptionally  proud  that  WuXi NextCODE’s Exchange  is  at  the  forefront  of  this  exciting  advancement.