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/;  chttp://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’sExchange  is  at  the  forefront  of  this  exciting  advancement.