Making  Progress  in  Genomics:  Reflections  and  Prospects  

Hannes  Smarason

Genome  Sequencing  |Personalized  Medicine  |  Transforming  Health  Care

Reflections  on  the  Past,  Prospects  for  the  Future

• The  annual  American  Society  of  Human  Genomics  Meeting  (ASHG  2016)  provides  an  excellent  opportunity  to:– Take  stock  of  our  accomplishments  over  the  last  few  years;  and  – Consider  what  we  can  achieve  in  the  years  ahead.

• Our  accomplishments  have  been  numerous  and  our  goals  are  ambitious,  yet  achievable.  At  WuXi  NextCODE,  we  perceive  exciting  opportunities  for  our  field.    As  we  move  toward  these  goals,  we  will  build  on  our  successes  and  harness  the  power  of  genomics  to  revolutionize  healthcare  and  improve  patient  outcomes.

What  We  Have  Achieved

In  recent  years  our  work  in  genomics  has  been  transforming  medicine  and  improving  patient  outcomes  in  numerous  ways.    Consider  these  five  highlights:

1. Improvements  in  Sequencing  Technology  and  Analytical  Tools– Dramatic  increases  in  sequencing  speed  and  efficiency  are  yielding  an  ever-­‐increasing  volume  

of  genomic  data.– Novel  methods  of  analysis,  like  the  powerful  genomics  platform  employed  here  at  WuXi  

NextCODE,  have  considerably  advanced  our  understanding  of  genetic  variations  and  their  clinical  significance.

2. Transformations  in  Cancer  Treatment– The  expanding  use  of  genomic  data  to  guide  treatment  decisions  in  oncology  is  dramatically  

changing  the  way  clinicians  approach  cancer  care.– Our  growing  understanding  of  genetic  predispositions  for  certain  cancers  is  helping  high-­‐risk  

individuals  make  informed  choices  about  preventive  care.

What  We  Have  Achieved  (Cont’d)

3. Progress  in  Rare  Disease– Genomics  has  brought  new  hope  to  families  struggling  with  rare  diseases.– Genomic  data  shortens  diagnostic  odysseys,  guides  treatment,  and  helps  patients,  families,  

and  researchers  build  communities.

4. Empowerment  of  Patients  and  Consumers– Patients  and  consumers  are  increasingly  informed  about  the  innovative  and  meaningful  ways  

in  which  genomic  data  can  guide  healthcare  decisions.– Successes  in  our  field  are  empowering  individuals  to  pursue  personalized  medicine  and  

generating  interest  in  direct-­‐to-­‐consumer  testing.

5. Innovations  in  Cloud-­‐Based  Analysis– The  vast  and  ever-­‐growing  quantity  of  genomic  data  and  related  information  has  sparked  new,  

cloud-­‐based  approaches  to  storage  and  analysis.– WuXi NextCODE’s Exchange is  at  the  forefront  of  the  accelerated  research  made  possible  by  

real-­‐time  collaboration  and  analysis  in  the  cloud.

What  We  Can  Achieve  Our  work  in  genomics  will  drive  meaningful  change  over  the  next  few  years.    Consider  these  five  areas  in  which  we  can  make  significant  progress:1. Effective  Communication  and  Collaboration

– Realizing   the  full  potential   of  big  data  and  cloud-­‐based   computing  will   require   new  efforts  to  dismantle   “data  silos.”    

– Recent   initiatives   in  cancer   research   signify  a  willingness   to  share  data  to  improve  patient  outcomes.

– We  encourage   researchers   and  clinicians   throughout   the   field  of  genomics   to  promote  communication   among  all   stakeholders.  

2. Policies  for  Research  with  Patient  Data  – Our  field  derives   its  greatest   power  from  careful   analysis  of  genomic   data,  and  access   to  data  is  

critical   to  effecting   meaningful   change   in  healthcare.– In  order   to  gather   this  game-­‐changing   data  – from  patients,   from  consumers,  and  from  

population-­‐wide   studies  – we  need   to  develop   and  embrace   policies   that  consider   the  ‘biorights’  of  patients.    

– We  believe   individuals   who  wish  to  contribute   information   for  research   should  have   the  opportunity   to  do  so,  and  encourage   all  parties   to  communicate   clearly   the  purposes  and  extent   of  data-­‐sharing.

What  We  Can  Achieve  (Cont’d)3. Integration  for  Clinical  Trials

– As  we  move   forward,  clinical   trials   will   increasingly:• Test  the  efficacy   of  treatments   tailored  to  specific   genetic   anomalies;   and• Use  genetic   information  to  screen  participants.

– The  use  of  genomics   in  clinical   trials  will   dramatically   accelerate   the  development   of  personalized  therapies   that  will   surely  improve  patient   outcomes.

4. Actionable  Information  from  Population-­‐Wide  Genomic  Studies– Analysis  of  the  data  we  are  collecting   around  the  world   is  an  essential   step  to  reshaping   healthcare  

practices   worldwide.– In  the  near   future  we  will   reap  significant   rewards   from  projects   that  gather  population-­‐wide   genomic  

information.    

5. Globalization  of  Genomic  Products:  ‘Think  Globally,  Act  Locally’– The  power  of  genomic   information   is  now  known  across   the  globe,  and  can  be  applied   in  a  multitude  

of  positive   ways.    – With  such  widespread   potential,   individual   countries  and  cultures   will   choose   to  advance  and  roll-­‐out  

genomics   in  their  own  distinct  ways  for  the  benefit  of  their   citizens.    – Companies   that  develop  genomic   products  will  need   to  adapt  and  design   their  products   for  use   in  

specific   markets.    – At  WuXi  NextCODE,   the   first  focus  of  our  product  portfolio   for  individual   patients/families

is  in  China,  where  we  are  delivering   three  offerings:  population-­‐optimized   diagnostics,  carrier   screening,   and  whole-­‐genomic   wellness   scans.

Building  on  the  Past,  Driving  the  Future• Recent  accomplishments  in  our  field  provide  a  solid  foundation  upon  which  we  can  

expand  the  data  and  analysis  necessary  for  meaningful  change  in  healthcare.• The  genomic  revolution  in  medicine  that  we  envisage  will  be  achieved  through  

applied  use  of  research  and  development  that  is:– Fueled  by  big  data,  including  data  provided  by  informed  consumers  and  patients  and  data  

derived  from  population-­‐wide  studies;  – Supported  by  clinical  trials  crafted  to  assess  the  safety  and  efficacy  of  treatments  tailored  

to  individual  characteristics;  and– Enabled  by  collaborative  work  and  effective  communication.  

• At  WuXi  NextCODE,  we  are  energized  by  the  prospects  for  genomics  in  the  years  to  come.    We  are  proud  to  be  at  the  cutting  edge,  providing  the  tools  and  resources  that  researchers  and  clinicians  need  to  harness  the  transformative  power  of  genomic  data.    And  we  are  confident  that  our  field  will  continue  to  drive  meaningful  changes  in  healthcare  that  improve  patient  outcomes.