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Bringing	
  Together	
  Core	
  Technologies	
  
Unlocks	
  Genomic	
  Data	
  to	
  Improve	
  
Healthcare	
  
Hannes	
  Smarason	
  
	
  
Genome	
  Sequencing	
  |Personalized	
  Medicine	
  |	
  Transforming	
  Health	
  Care	
  
Clinical	
  Use	
  of	
  Genome	
  
Sequencing	
  Rapidly	
  Expanding	
  
The	
  adop9on	
  of	
  genome	
  sequencing	
  technology	
  is	
  
rapidly	
  expanding	
  as	
  medical	
  centers	
  around	
  the	
  world	
  
embrace	
  its	
  u9lity	
  in	
  informing	
  healthcare	
  decisions—
an	
  emerging	
  reality	
  of	
  personalized	
  medicine.	
  
Expansion	
  Driven	
  by	
  Technology	
  
•  There	
  are	
  three	
  important	
  areas	
  of	
  technology	
  that	
  are	
  
driving	
  the	
  use	
  of	
  genomic	
  data	
  in	
  healthcare:	
  	
  genome	
  
sequencing,	
  genomic	
  analysis	
  tools,	
  and	
  database	
  storage.	
  	
  	
  
•  The	
  first	
  of	
  these	
  –	
  genome	
  sequencing	
  –	
  has	
  advanced	
  to	
  the	
  
point	
  that	
  it	
  is	
  more	
  widely	
  accessible,	
  with	
  the	
  cost	
  of	
  
sequencing	
  at	
  nearly	
  $1,000	
  or	
  less.	
  	
  	
  
•  This	
  lower	
  cost	
  of	
  genome	
  sequencing	
  has	
  reached	
  a	
  cri9cal	
  
milestone	
  to	
  enable	
  the	
  use	
  of	
  sequencing	
  as	
  a	
  mass-­‐market	
  
product	
  for	
  medical	
  care.	
  
	
  
Expansion	
  Driven	
  by	
  Technology	
  
•  The	
  second	
  and	
  third	
  core	
  
genomic	
  technologies	
  –	
  
genomic	
  analysis	
  tools	
  and	
  
database	
  storage	
  –	
  are	
  in	
  
the	
  midst	
  of	
  evolu9on.	
  	
  	
  
•  Their	
  progress	
  and	
  
integra9on	
  are	
  cri9cal	
  for	
  
the	
  next	
  stage	
  of	
  adop9on	
  of	
  
genomic	
  data	
  into	
  health	
  
care.	
  	
  	
  
AnalyEcs	
  Central	
  to	
  Progress	
  
•  Genomic	
  Analysis	
  Tools:	
  	
  
–  Since	
  the	
  human	
  genome	
  was	
  first	
  sequenced	
  more	
  than	
  a	
  decade	
  
ago,	
  an	
  increasingly	
  robust	
  body	
  of	
  research	
  has	
  showcased	
  the	
  
links	
  between	
  muta9ons	
  iden9fied	
  in	
  the	
  genome	
  and	
  disease	
  risk.	
  	
  
–  Informa9cs	
  tools	
  have	
  been	
  developed	
  by	
  medical	
  centers	
  and	
  
genomics	
  companies	
  to	
  apply	
  to	
  whole-­‐genome	
  samples.	
  	
  
–  Increasingly,	
  these	
  genome	
  analysis	
  tools	
  will	
  need	
  to	
  adapt	
  to	
  the	
  
steady	
  pace	
  of	
  new	
  genomic	
  linkages	
  to	
  disease	
  and	
  to	
  operate	
  at	
  
a	
  level	
  approaching	
  “big	
  data.”	
  
Database	
  Storage	
  EssenEal	
  to	
  
Inform	
  Decision	
  Making	
  
•  Database	
  Storage	
  for	
  Human	
  Genomes:	
  	
  
–  There	
  are	
  a	
  growing	
  number	
  of	
  robust	
  databases	
  of	
  human	
  
genomes,	
  including	
  data	
  for	
  healthy	
  people	
  or	
  those	
  with	
  certain	
  
diseases.	
  	
  	
  
–  When	
  properly	
  analyzed,	
  these	
  databases	
  offer	
  the	
  poten9al	
  to	
  
provide	
  the	
  medical	
  community	
  with	
  a	
  reference	
  library	
  against	
  
which	
  to	
  compare	
  gene9c	
  data.	
  	
  
–  Large-­‐scale,	
  high-­‐quality	
  databases	
  are	
  an	
  essen9al	
  element	
  to	
  
cross-­‐reference	
  a	
  pa9ent	
  genome	
  to	
  guide	
  more	
  informed	
  medical	
  
decisions.	
  
Combined	
  Leading	
  Technologies	
  Will	
  
Accelerate	
  Progress	
  	
  
•  Recently,	
  two	
  leading	
  genomics	
  companies,	
  WuXi	
  and	
  
NextCODE	
  Health,	
  have	
  
combined	
  their	
  technology	
  capabili9es	
  in	
  these	
  two	
  areas.	
  	
  	
  
–  WuXi	
  has	
  industry-­‐leading	
  capabili9es	
  to	
  analyze,	
  store	
  and	
  manage	
  the	
  
vast	
  amounts	
  of	
  genomic	
  data.	
  	
  	
  
–  NextCODE	
  Health	
  brings	
  a	
  leading-­‐edge	
  system	
  for	
  sequence-­‐based	
  
clinical	
  diagnos9c	
  applica9ons	
  and	
  genome	
  analysis.	
  	
  	
  
•  The	
  combina9on	
  of	
  WuXi’s	
  founda9onal	
  genomic	
  database	
  
storage	
  and	
  management	
  and	
  NextCODE’s	
  sophis9cated	
  
genome	
  analysis	
  tools	
  will	
  integrated	
  the	
  key	
  components	
  that	
  
are	
  most	
  rapidly	
  evolving	
  to	
  apply	
  genomics	
  to	
  medical	
  care.	
  	
  	
  
OpportuniEes	
  Lie	
  on	
  the	
  Horizon	
  
•  Ini9a9ves	
  like	
  this	
  in	
  the	
  advance	
  the	
  state-­‐of-­‐the-­‐art	
  in	
  
genomic	
  analysis	
  and	
  database	
  storage	
  brings	
  us	
  to	
  the	
  
heart	
  of	
  helping	
  the	
  world	
  to	
  fully	
  harness	
  personalized	
  
medicine,	
  and	
  to	
  providing	
  tools	
  directly	
  to	
  doctors	
  to	
  
provide	
  beer	
  diagnos9cs	
  and	
  treatments	
  to	
  pa9ents.	
  
•  The	
  progress	
  to	
  date	
  has	
  been	
  amazing.	
  Yet	
  the	
  
opportuni9es	
  ahead	
  are	
  even	
  more	
  extraordinary	
  to	
  
improve	
  the	
  speed,	
  accuracy,	
  and	
  accessibility	
  of	
  genomic	
  
informa9on	
  to	
  improve	
  human	
  health.	
  

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Hannes smarason next code-wuxi combined technologies

  • 1. Bringing  Together  Core  Technologies   Unlocks  Genomic  Data  to  Improve   Healthcare   Hannes  Smarason     Genome  Sequencing  |Personalized  Medicine  |  Transforming  Health  Care  
  • 2. Clinical  Use  of  Genome   Sequencing  Rapidly  Expanding   The  adop9on  of  genome  sequencing  technology  is   rapidly  expanding  as  medical  centers  around  the  world   embrace  its  u9lity  in  informing  healthcare  decisions— an  emerging  reality  of  personalized  medicine.  
  • 3. Expansion  Driven  by  Technology   •  There  are  three  important  areas  of  technology  that  are   driving  the  use  of  genomic  data  in  healthcare:    genome   sequencing,  genomic  analysis  tools,  and  database  storage.       •  The  first  of  these  –  genome  sequencing  –  has  advanced  to  the   point  that  it  is  more  widely  accessible,  with  the  cost  of   sequencing  at  nearly  $1,000  or  less.       •  This  lower  cost  of  genome  sequencing  has  reached  a  cri9cal   milestone  to  enable  the  use  of  sequencing  as  a  mass-­‐market   product  for  medical  care.    
  • 4. Expansion  Driven  by  Technology   •  The  second  and  third  core   genomic  technologies  –   genomic  analysis  tools  and   database  storage  –  are  in   the  midst  of  evolu9on.       •  Their  progress  and   integra9on  are  cri9cal  for   the  next  stage  of  adop9on  of   genomic  data  into  health   care.      
  • 5. AnalyEcs  Central  to  Progress   •  Genomic  Analysis  Tools:     –  Since  the  human  genome  was  first  sequenced  more  than  a  decade   ago,  an  increasingly  robust  body  of  research  has  showcased  the   links  between  muta9ons  iden9fied  in  the  genome  and  disease  risk.     –  Informa9cs  tools  have  been  developed  by  medical  centers  and   genomics  companies  to  apply  to  whole-­‐genome  samples.     –  Increasingly,  these  genome  analysis  tools  will  need  to  adapt  to  the   steady  pace  of  new  genomic  linkages  to  disease  and  to  operate  at   a  level  approaching  “big  data.”  
  • 6. Database  Storage  EssenEal  to   Inform  Decision  Making   •  Database  Storage  for  Human  Genomes:     –  There  are  a  growing  number  of  robust  databases  of  human   genomes,  including  data  for  healthy  people  or  those  with  certain   diseases.       –  When  properly  analyzed,  these  databases  offer  the  poten9al  to   provide  the  medical  community  with  a  reference  library  against   which  to  compare  gene9c  data.     –  Large-­‐scale,  high-­‐quality  databases  are  an  essen9al  element  to   cross-­‐reference  a  pa9ent  genome  to  guide  more  informed  medical   decisions.  
  • 7. Combined  Leading  Technologies  Will   Accelerate  Progress     •  Recently,  two  leading  genomics  companies,  WuXi  and   NextCODE  Health,  have   combined  their  technology  capabili9es  in  these  two  areas.       –  WuXi  has  industry-­‐leading  capabili9es  to  analyze,  store  and  manage  the   vast  amounts  of  genomic  data.       –  NextCODE  Health  brings  a  leading-­‐edge  system  for  sequence-­‐based   clinical  diagnos9c  applica9ons  and  genome  analysis.       •  The  combina9on  of  WuXi’s  founda9onal  genomic  database   storage  and  management  and  NextCODE’s  sophis9cated   genome  analysis  tools  will  integrated  the  key  components  that   are  most  rapidly  evolving  to  apply  genomics  to  medical  care.      
  • 8. OpportuniEes  Lie  on  the  Horizon   •  Ini9a9ves  like  this  in  the  advance  the  state-­‐of-­‐the-­‐art  in   genomic  analysis  and  database  storage  brings  us  to  the   heart  of  helping  the  world  to  fully  harness  personalized   medicine,  and  to  providing  tools  directly  to  doctors  to   provide  beer  diagnos9cs  and  treatments  to  pa9ents.   •  The  progress  to  date  has  been  amazing.  Yet  the   opportuni9es  ahead  are  even  more  extraordinary  to   improve  the  speed,  accuracy,  and  accessibility  of  genomic   informa9on  to  improve  human  health.