New York, NY 10013 New York Genome Center Receives NYS

New  York  Genome  Center  Receives  NYS  Approval  to  Perform  Clinical  Exome  Sequencing  Test   First  LDT  from  the  Center  Will  Provide  Insight  for  Diagnostic  Odyssey  Cases     NEW  YORK,  March  30,  2015   –  The  New  York  Genome  Center  (NYGC)  has  received  approval  from   the  New  York  State  Department  of  Health  to  offer  clinical  whole  exome  sequencing  for   individuals  with  constitutional  disorders.  This  is  the  first  laboratory-­‐developed  test,  or  LDT,  from   the  Center  to  be  cleared  for  clinical  diagnostic  use.       The  test  is  intended  for  children  or  adult  patients  with  an  undiagnosed  condition  that  suggests   an  underlying  genetic  cause.  In  many  cases,  patients  referred  for  exome  sequencing  have  been   subjected  to  previous  genetic  testing  that  is  not  as  comprehensive  as  whole  exome  sequencing   and  the  molecular  cause  of  their  condition  has  not  been  able  to  be  identified.  “Many  of  the   patients  we  hope  to  help  have  been  on  what  the  field  refers  to  as  a   d iagnostic  odyssey.  They   have  gone  from  one  doctor  or  hospital  to  another,  trying  to  figure  out  what  is  causing  their   symptoms,”  said  Vaidehi  Jobanputra,  Ph.D.,  FACMG,  Director  of  Molecular  Diagnostics  at  the   New  York  Genome  Center,  who  led  the  work  to  develop  the  new  test.       Under  the  plan  now  approved  by  the  State,  the  Center  will  offer  clinical  diagnostic  exome   sequencing  for  affected  children  and  their  parents,  a  method  known  as  trio  testing.  Analyzing   sequencing  data  in  the  context  of  family  relationships  increases   t he  likelihood  of  identifying   genetic  variants  that  may  be  contributing  to  symptoms  observed  in  the  child.  The  laboratory  will   also  accept  affected  or  unaffected  relatives  to  provide  additional  context  and  help  guide   interpretation  on  a  case-­‐by-­‐case  basis.  The  clinical  exome  test  is  also  available  for  adult  patients.     Physicians  in  New  York  State  will  now  be  able  to  order  the  test  on  behalf  of  their  patients.   Typically,  clinical  exome  sequencing  can  take  up  to  12-­‐14  weeks,  but  Dr.  Jobanputra  hopes  to   return  most  results  within  6-­‐8  weeks.  This  rapid  turnaround  time  is  realistic  for  the  Center   because  it  uses  an  automated  analysis  pipeline  to  ensure  that  each  case  is  handled  not  only   rapidly  but  also  carefully,  precisely  and  systematically.       The  test  was  validated  using  Agilent  exome  capture  reagents  to  prepare  samples  for  sequencing   on  the  Illumina  HiSeq2500  platform.  In  addition  to  variants  associated  with  the  reported  clinical   phenotype,  the  laboratory  will  report  secondary  findings  in  medically  actionable  genes  as  per   the  American  College  of  Medical  Genetics  and  Genomics  (ACMG)  guidelines.  Patients  will  have   the  option  to  opt  out  of  these  findings  on  the  informed  consent  that  must  accompany  each  test   request.  Patients  also  will  be  able  to  opt  in  to  learning  their  carrier  status  for  autosomal   recessive  conditions  in  genes  recommended  by  the  ACMG  and  the  American  Congress  of   Obstetricians  and  Gynecologists  (ACOG)  for  reproductive  carrier  screening.    "This  allows  NYGC  to   bring  state  of  the  art  medical  care—which  today  includes  genomic  sequencing—to  patients   throughout  New  York,"  said  Robert  Darnell,  MD,  PhD,  President  and  Scientific  Director  of   NYGC.    “Integration  of  this  capability  with  the  research  and  clinical  needs  of  our  partner   institutions  will  enable  us,  together,  to  better  identify  genetic  variants  and  thereby  advise   doctors  how  to  more  specifically  treat  the  root  cause  of  what  makes  patients  sick."        

New York Genome Center | 101 Avenue of the Americas | New York, NY 10013

 

      The  laboratory  is  preparing  to  submit  additional  LDTs,  including  a  whole  exome  sequencing  test   for  cancer,  a  whole  genome  sequencing  test  for  genetic  disorders  and  a  whole  genome   sequencing  test  for  cancer.       About  the  New  York  Genome  Center   The  New  York  Genome  Center  (NYGC)  is  an  independent  nonprofit  at  the  forefront  of   transforming  biomedical  research  and  clinical  care  with  the  mission  of  saving  lives.  As  a   consortium  of  renowned  academic,  medical  and  industry  leaders  across  the  globe,  NYGC  focuses   on  translating  genomic  research  into  clinical  solutions  for  serious  disease.  Our  member   organizations  and  partners  are  united  in  this  unprecedented  collaboration  of  technology,   science,  and  medicine.  We  harness  the  power  of  innovation  and  discoveries  to  improve  people’s   lives  -­‐  ethically,  equitably,  and  urgently.  Member  institutions  include:  Albert  Einstein  College  of   Medicine,  American  Museum  of  Natural  History,  Cold  Spring  Harbor  Laboratory,  Columbia   University  College  of  Physicians  and  Surgeons,  Cornell  University/Weill  Cornell  Medical  College,   Hospital  for  Special  Surgery,  The  Jackson  Laboratory,   M emorial  Sloan  Kettering  Cancer  Center,   Icahn  School  of  Medicine  at  Mount  Sinai,  NewYork-­‐Presbyterian  Hospital,  The  New  York  Stem   Cell  Foundation,  New  York  University,  North  Shore-­‐LIJ,  The  Rockefeller  University,  Roswell  Park   Cancer  Institute,  Stony  Brook  University  and  IBM.  For  more  information,  visit:   www.nygenome.org.     Website:  www.nygenome.org   Facebook:  facebook.com/nygenome   Twitter:  @nygenome     Media  Contacts:   Sara  Ghazaii   (646)  977-­‐7070   [email protected]      

New York Genome Center | 101 Avenue of the Americas | New York, NY 10013