Genomics:  Forging  Patient-­‐Centric  Communities

Hannes  Smarason

Genome  Sequencing  |Personalized  Medicine  |  Transforming  Health  Care

Genomics  and  the  Evolution  of  Patient-­‐Centric  Communities• In  recent  years,  genomics  has  become  a  foundation  for  virtual  patient-­‐centric  

communities.    These  are  communities  built  on  the  Internet  and  through  social  media  that:– Connect  people  touched  by  a  disease  or  disorder;  and– Reach  out  to  broad  populations  affected  by  rare  diseases.

• Patient-­‐centric  communities  develop  resources  and  advice  for  patients  and  families  – and  increasingly  collaborate  with  clinicians  and  researchers.  

• Consider  two  examples:– RareConnect is  an  online  platform  that  connects  patients,  caregivers,  clinicians,  and  

researchers  in  more  than  eighty  disease-­‐specific  communities.    – PatientsLikeMe has  activities  that  encompass  more  than  400,000  members  with  over  

2,500  conditions.    • Many  of  these  diseases  and  conditions  are  identified  by  genetic  abnormalities  or  

characteristics.    Participants  in  RareConnect,  PatientsLikeMe,  and  similar  sites  are  drawn  in  part  to  the  ways  in  which  genomics  can  contribute  to  an  accurate  diagnosis,  a  novel  treatment,  and  ultimately  a  cure.  

Genomics  Provides  Essential  Elements  for  Strong  Communities  • As  we  learn  more  about  the  genetic  variations  that  contribute  to  diverse  

conditions,  virtual  communities  that  are  fueled  by  genomics  are  increasingly  useful  resources  for  patients,  caregivers,  clinicians,  and  researchers.

• Genomics  serves  the  goals  of  patient-­‐centric  communities  by:– Linking  patients  and  caregivers  to  each  other;  and– Connecting  patients  to  research  initiatives  that  use  genetic  sequencing  to  diagnose  conditions  

and  guide  treatment.

• Patient-­‐centric  communities  break  down  the  barriers  of  isolation  and  uncertainty  that  can  compromise  care.    Virtual  communities  provide  information  and  support  that  links  patients  and  caregivers  worldwide.    Incorporating  genomic  information  expands  this  influence  by  forging  essential  connections  to  clinicians  and  researchers.

• The  expanded  role  of  genomics  in  creating  and  strengthening  patient-­‐centric  communities  improves patient  outcomes  today,  while  influencing research  for  better  therapies  tomorrow.

Genomics  and  Patient-­‐Centric  Communities:  Rare  Diseases• The  use  of  genomics  to  build  communities  has  been  especially  important  for  rare  diseases.

• An  excellent  article  in  The  Atlantic tells  the  story  of  one  young  woman  whose  experience  illustrates  this  phenomenon.    A  genomic  study  identified  the  genetic  mutation  that  underlies  Lilly  Grossman’s  movement  disorder.    The  information  provided  by  genomics  became  the  foundation  of  a  virtual  community:    – Lilly's  case  has  acted  as  a  magnet  for  others  with  the  same  mutation.  Families  with  the  same  problem  read  about  

Lilly’s  case  and  contacted  the  Grossmans.  Doctors  and  geneticists   looked  at  their  own  patients  and  saw  a  new  explanation  behind  puzzling  symptoms.  Before,  there  were   isolated  pockets  of  people  around  the  world,  dealing  with  their  own  problems,  alone  for  all  they  knew.  Now,   there’s   a  community.

• For  families  like  the  Grossmans,  genomics  provides  the  vital  link,  the  piece  of  information  that  identifies  individuals  with  similar  experiences  – the  community  of  people  who  understand.    Patient-­‐centric  communities  are  one  way  in  which  the  increasing  availability  of  cost-­‐effective  genetic  sequencing  is  transforming  patient  experiences,  shortening  diagnostic  odysseys,  and  improving  clinical  care.

Source:  Ed  Yong,  “How  Genome  Sequencing  Creates  Communities  Around  Rare  Disorders,”  September  21,  2015,  The  Atlantic.  

Genomics  and  Patient-­‐Centric  Communities:  Advocacy  and  Fund-­‐Raising

• Many  patient-­‐centric  communities  are  critical  for  advocacy  and  fundraising.    Parent  Project  Muscular  Dystrophy (PPMD),  for  instance,  has  demonstrated  how  parents  and  caregivers  can  effect  meaningful  change,  raising  both  awareness  and  financial  resources  – and  even  being  a  leading  voice  in  support  of  FDA  approval  of  therapeutics.

• The  intersection  of  genomics  and  social  media  increasingly  drives  progress,  too.  The  Charlotte  &  Gwyneth  Gray  Foundation,  for  example,  has  raised  an  estimated  $3.5  million  to  support  CLN6-­‐Batten  disease  research  – through  a  crowdfunding  initiative  launched  less  than  a  year  ago.

• And  coalitions  of  patient-­‐centric  communities  can  achieve  significant  advances  through  the  power  of  numbers.  Thus  Genetic  Alliance,  a  network  of  more  than  10,000  organizations,  was  a  key  player  in  passage  of  the  Genetic  Information  Nondiscrimination  Act  and  in  development  of  the  National  Patient-­‐Centered  Clinical  Research  Network.

Genomics  and  Patient-­‐Centric  Communities:  Research  Initiatives

• Patient-­‐centric  communities  facilitate  connections  between  patients  and  researchers  – connections  that  become  more  powerful  through  genomics.    Communities  and  genomics  together  power  numerous  initiatives  that  run  the  gamut  from  efforts  to  identify  a  handful  of  individuals  with  rare  diseases  to  projects  that  aim  to  enroll  thousands  of  participants.    Some  examples:    

– The  University  of  Washington   recently   launched  MyGene2,   a  site  where   families   with   rare  conditions  can  publicly   post  their   stories,  establishing   connections   not  only  with  those  who  share  similar   stories  but  also  with  clinicians   and  researchers.    

– 23andMe has  partnered   with  a  number  of  Parkinson’s  community   groups  on  a  project   to  gather  genetic   data  from  more  than  11,000  individuals.  

– And  the  Simons  Foundation  Autism  Research   Initiative (SFARI)  has  launched   SPARK,  a  project   to  collect  genomic   information   from  50,000  people  with  autism  and  their   families.    At  WuXi  NextCODE we  are  delighted   to  participate   in  this  endeavor  by  providing   direct  online   access to  the  data.

Genomics:  The  Nexus  Between  Evidenced-­‐Based  Medicine  and  the  Empowered  Patient

• Genomics  plays  a  critical  role  in  the  evolution  of  patient-­‐centric  communities  and  promotes  their  collaborations  with  clinicians  and  researchers.    

• Through  voluntary  contributions  of  personal  knowledge  – and  genomic  data  –participants  in  patient  communities  are  expanding  the  impact  of  genomics  on  medicine.    

• The  growing  power  of  virtual  communities  is  facilitating  numerous  initiatives  to  improve  patient  outcomes  through  improved  diagnosis,  optimized  standards  of  care,  and  new  directions  for  promising  research.

• From  rare  diseases  to  disorders  that  affect  millions,  all  stakeholders  increasingly  use  genomics  to  translate  individual  experiences  and  expertise  into  meaningful  improvements  in  the  lives  of  patients  and  their  caregivers.    

• At  WuXi  NextCODEwe  are  proud  to  advance  the  role  of  genomics  not  only  in  patient  care  but  also  in  the  evolution  of  strong,  effective  patient-­‐centric  communities.