Popula'on-­‐Scale  Research  Efforts  Enabled  by  Progress  in  Sequencing  

Hannes  Smarason    Genome  Sequencing  |Personalized  Medicine  |  Transforming  Health  Care  

The  ability  to  sequence  whole  genomes  quickly  and  economically  is  driving  interest  in  popula?on-­‐scale  sequencing  efforts  that  can  reveal  meaningful  insights  on  a  much  more  systema?c  basis  than  previous  approaches.    

Ini'a'ves  Around  the  World  •  A  range  of  large  ini?a?ves  announced  recently  are  prime  

examples  of  the  trend  in  popula?on  sequencing  –  Industry  programs  by  Regeneron  and  Human  Longevity  –  The  100,000  Genomes  Project  by  Genomics  England  

•  Perhaps  beOer  than  any  other  effort  since  the  founding  of  deCODE  gene?cs  in  Iceland,  the  establishment  of  a  high-­‐throughput  Genomics  Center  at  Sidra  Medical  and  Research  Center  in  Qatar  embodies  the  movement  toward  these  types  of  popula?on  studies  

Popula'on  Mapping  in  Qatar  

•  The  eventual  project  goal:  sequence  the  en?re  Qatari  popula?on  of  some  300,000  people    

•  The  Sidra  facility  will  help  advance  gene?c  mapping  projects  –  Plans  to  create  an  Arab  consensus  genome  to  obtain  a  beOer  understanding  of  gene?c  variants  that  influence  health  across  Arab  popula?ons  

•  Center  will  also  focus  on  uncovering  the  causes  of  rare  gene?c  diseases  

Significant  Insights  to  be  Gained  

•  The  significant  insights  that  can  be  gained  from  popula?on-­‐scale  studies,  based  on  the  knowledge  of  gene?c  varia?on  and  disease  causa?on,  will  help  to  enable  a  new  reality  of  personalized  medicine  and  treatment.    

•  This  is  where  efficient,  powerful  and  industrial-­‐scale  analysis  will  become  cri?cal.    

•  NextCODE’s  analy?cs  and  interpreta?on  systems  have  already  been  tested  at  such  scale,  as  they  are  based  on  the  world’s  first  and  largest  popula?on  genomics  effort  –  that  of  deCODE.  

Proper  Analysis  is  Cri'cal  

Our  systems  will  be  useful  tools  to  efficiently  deliver  insights  based  on  the  vast  amount  of  data  that  will  be  generated  by  these  major  popula?on-­‐based  efforts  to  improve  the  state  of  global  healthcare.