Genomics:  Shi-ing  the  Paradigm  for  Rare  Diseases  

Hannes  Smarason    Genome  Sequencing  |Personalized  Medicine  |  Transforming  Health  Care  

Genomics  Holds  Huge  Poten<al  Value  for  Rare  Disease  Diagnosis  

•  There  are  more  than  7,000  rare  diseases    •  Rare  diseases  can  be  chronic,  progressive,  debilita<ng,  disabling,  severe,  and  life-­‐threatening  

 •  Rare  diseases  affect  nearly  1  in  10  people  

Rare  Diseases  Trigger    “Diagnos<c  Odysseys”  

•  When  a  pa<ent  presents  with  unusual  symptoms,  a  costly  scramble  begins  to  diagnose  the  disease  

 •  Pa<ents  and  their  families  are  subjected  to  test  a-er  

test  while  being  handed  from  one  doctor  to  another,  frequently  necessita<ng  travel  to  medical  centers  far  from  home  

 •  Too  o-en,  this  odyssey  yields  no  clear  diagnosis    

or—worse—misdiagnosis      

Genomics  Offers  a    Game-­‐Changing  Solu<on  •  Approximately  80%  of  rare  diseases  are  thought  to  have  gene<c  origins,  according  to  US  NIH      

•  Genomic  sequencing,  interpreta<on,  and  analysis  decipher  the  gene<c  evidence  of  rare  diseases      

•  Diagnoses  informed  by  genomics  are  bringing  an  end  to  diagnos<c  odysseys  

Bloomberg  BusinessWeek  Ar<cle  Highlights  Great  Examples    Jackie  Smith,  age  35    •  From  the  age  of  3,  doctors  could  not  find  a  diagnosis  to  account  for  Jackie’s  weak  limbs  and  turned-­‐

in  ankles.  •  Jackie’s  parents  were  once  told  to  “enjoy  her  while  they  could”  because  her  disease  “probably  

would  kill  her  before  she  was  old  enough  to  drive.”  •  Last  February,  using  genomic  interpreta<on  and  analyses  from  WuXi  NextCODE,  Claritas  Genomics  

defini<vely—and  in  less  than  three  weeks—iden<fied  her  condi<on  as  centronuclear  myopathy,  a  condi<on  that  primarily  affects  skeletal  muscles  

 Dus<n  Bennec,  age  24  •  Dus<n  would  tremble  and  jerk  for  hours  or  days  at  a  <me  and  has  been  developmentally  delayed  

since  childhood  •  Incorrect  diagnosis  le-  family  challenged,  frustrated  •  A  Mayo  Clinic  genomic-­‐based  analysis  showed  he  suffers  from  episodic  ataxia  type  I,  a  neurological  

disease  characterized  by  hours-­‐long  acacks  with  no  clear  trigger  

Source:  Cortez,  Michelle    “Si#ing  DNA  Databases  for  the  Right  Diagnosis”,  September  10,  2015,  Bloomberg  BusinessWeek.  

Genomics  Brings  Help,  Value  to  Rare  Disease  Care    

•  Correct  diagnosis  with  geneCc  precision  can  end  costly,  frustraCng  diagnosCc  odyssey,  helping  paCents  and  adding  value  to  the  health  care  system  broadly      

•  As  powerfully  expressed  in  Bloomberg  BusinessWeek:    While  there  isn’t  yet  a  cure,  Smith  is  par?cipa?ng  in  research  that  may  one  day  lead  to  treatments  or  more  suppor?ve  care.  “Just  being  connected  feels  good.  I  felt  alone  for  a  long  ?me,”  she  says.  “And  I  want  to  do  it  for  the  bigger  picture,  too.  Not  just  for  myself,  but  so  I  can  be  counted.”    

Source:  Cortez,  Michelle    “Si#ing  DNA  Databases  for  the  Right  Diagnosis”,  September  10,  2015,  Bloomberg  BusinessWeek.