2015  =  An  Inflec-on  Point  for  Genomics:    Shi:ing  the  Global  Care  Paradigm  

Hannes  Smarason    Genome  Sequencing  |Personalized  Medicine  |  Transforming  Health  Care  

Diagnosing  Rare  Diseases:  Genomics  Goes  Global,  Shi:s  Paradigm  

•  Rare  diseases  are  an  area  of  significant  advancement  for  genomics,  driven  by  the  important  goal  of  reaching  all  people  around  the  world,  no  maAer  where  they  live    

•  AcCve  programs  are  underway  in  many  populous  countries  around  the  world,  and  WuXi  NextCODE  has  established  collaboraCve  efforts  on  three  conCnents,  most  recently  adding  Fudan  Children’s  Hospital  as  a  partner  in  its  efforts  to  lead  whole  genome  diagnosCcs  for  rare  diseases  in  China  

Global  Genomics:  Bringing  an  End  to  Diagnos-c  Odysseys  

•  Across  the  globe,  every  day  there  are  new  cases  of  children  with  “unknown”  diseases.  –  Approximately  80%  are  related  to  a  hereditary  geneCc  disorder.  –  Children  with  rare  diseases  and  their  families  oWen  spend  years  undergoing  tesCng  and  

experimental  treatments  for  a  wide  range  of  diseases.  –  These  “diagnosCc  odysseys”  are  usually  accompanied  by  a  very  high  financial  and  emoConal  

burden.  

•  Genomics  can  deliver  a  correct  and  precise  diagnosis  for  rare  diseases  that  have  iden-fiable  gene-c  causes.  

   •  The  benefits  of  genomics  in  rare  diseases  –  to  individuals,  their  families,  and  their  

physicians  –  are  increasingly  making  a  difference  to  paCents.    These  benefits  are  being  scaled  globally,  as  leading  medical  centers  in  many  countries  are  using  genomics  to  support  diagnosis  and  treatment  of  rare  diseases.  

     

Global  Genomics  in  2015:  Governments  as  Catalysts  •  Around  the  globe,  governments  are:  

–  AcCvely  promoCng  widespread  uClizaCon  of  genomics;  –  SupporCng  academic  research;  –  Establishing  industry  guidelines;  and    –  Raising  public  awareness.    

•  The  increasing  efforts  of  officials  worldwide  to  engage  with  and  support  the  private  sector’s  tremendous  potenCal  is  helping  to  drive  the  successful  use  and  applicaCon  of  genomics  worldwide.  

Global  Genomics  in  2015:  Governments  as  Catalysts  

A  few  of  this  year’s  highlights  in  the  United  States  •  President  Obama  made  precision  health  one  of  the  centerpieces  of  his  

State  of  the  Union  address  in  January.  Obama’s  administraCon  is  requesCng  a  $215M  investment  in  a  Precision  Medicine  IniCaCve  with  the  following  key  aAributes:  –  CollecCon  and  analysis  of  genomic  data  from  a  million  or  more  volunteers;  –  Expanded  research  into  the  geneCc  mutaCons  that  drive  cancer;  –  Funding  to  maintain  databases  and  develop  industry  standards.  –  Through  the  NaConal  InsCtutes  of  Health  and  the  NaConal  Cancer  InsCtute,  the  federal  

government  proposed  dozens  of  new  funding  opportuniCes  to  support  research  in  geneCc  sequencing  and  analysis.  

 

Global  Genomics  in  2015:  Governments  as  Catalysts  And  a  few  of  this  year’s  highlights  worldwide:  •  Germany  and  the  U.K.  expanded  eligibility  for  government-­‐funded  geneCc  tesCng  

for  breast  cancer  paCents.  •  Israel  announced  its  intent  to  establish  a  government-­‐sponsored  geneCc  database.  •  Japan  launched  an  IniCaCve  on  Rare  and  Undiagnosed  Diseases  to  provide  genomic  

analysis  and  expert  consultaCon  for  up  to  1,000  individuals  with  childhood  onset  of  undiagnosed  condiCons.  

•  Through  Genomics  England,  the  U.K.  Department  of  Health  tapped  WuXi  NextCODE  and  others  to  begin  interpretaCon  in  its  groundbreaking  100,000  Genomes  Project.  

•  WuXi  NextCODE  and  the  Sidra  Medical  and  Research  Center  partnered  to  power  populaCon  genomics  and  precision  medicine  in  Qatar.  Our  partnership  will:  –  Facilitate  clinical  diagnosCcs;  –  Accelerate  research;  and  –  Support  the  Qatar  Genome  Project.  

Global  Genomics:    Game-­‐Changing  Poten-al  •  Large-­‐scale  populaCon  studies  are  an  essenCal  step  in  

harnessing  the  power  of  genomics  to:  –  End  diagnosCc  odysseys  for  rare  diseases;  and    –  Improve  health  worldwide.      

•  Since  WuXi  NextCODE’s  foundaConal  heritage  as  part  of  deCODE  GeneCcs’  landmark  analysis  of  Icelanders,  we  have  always  developed  the  tools  to  help  translate  sequence  data  into  precision  medicine  on  a  large  scale.      –  In  our  work  with  Genomics  England,  our  collaboraCon  with  Fudan  Children’s  

Hospital  to  diagnose  rare  diseases  in  China,  and  our  partnership  with  Sidra,  WuXi  NextCODE  is  leading  the  effort  to  realize  the  potenCal  of    genomics  on  a  truly  global  scale.