Sequencing)output)

IT)processing)throughput)

Human)exper6se)

Genomic(sequencing(

Puta0ve(muta0ons(

Proteins(or(epigene0cs(

Func0on(

Clinical(effect(

Sequencing(output(

IT(processing(throughput(

Human(exper0se(

Genome&assembly&

Computa0onal&comparison&

and&annota0on&

Visualiza0on&

Experimental&planning&and&data&collec0on&

Desktop&integra0on,&and&So>ware&as&a&Service&(SaaC)&

Sequencing&output&

IT&processing&throughput&

Human&exper0se&

Genomic&sequencing&

Puta0ve&muta0ons&

Proteins&or&epigene0cs&

Func0on&

Clinical&effect&

Integrate(medical(condi/on(with(informa/on(on(gene/c(varia/on,(and(protein(func/on.( Provide(through(a(user:friendly(

query(and(visualiza/on(interface.(

Data$

Raw$sequence$

Informa+on$

Assembled$and$annotated$

data$

Knowledge$

Informa5on$applied$to$par5cular$purpose$

©  2013  Winton  Gibbons    

To  iden2fy  leverage  |  pressure  points—presen2ng  both  opportuni2es  and  problems—the  NGS  clinical  transla2on  process  should  be  viewed  as  analogous  to  a  manufacturing  plant.      For  opportuni2es  or  leverage  points,  follow  the  work  in  process  (WIP).  Where  there  is  too  much,  new  capacity  is  required  downstream  to  convert  it  into  useful  informa2on.  This  is  oMen  through  new  soMware,  but  can  be  through  new  instrumenta2on,  or  even  clinical  data.    At  any  2me,  there  will  be  over  and  under  capacity  for  various  stages,  e.g.,  too  much  raw  sequence  data  |  too  few  assembled  genomes  |  fewer  clinical  databases  |  yet  fewer  transla2onally  trained  doctors  |  insufficient  integra2on  among  gene2cs,  drugs  and  regulatory.    Different  vendors  and  users  will  likely  be  honed  for  various  steps  in  the  process,  not  fully  integrated.  Some  may  choose  to  integrate,  but  that  is  likely  best  done  through  acquisi2on  of  the  best-­‐of-­‐breed.    The  balance  will  not  always  stay  the  same.  It  is  likely  there  will  yet  be  an  oversupply  (not  just  overproduc2on)  of  sequencing  capacity.  Sequencer  and  reagent  growth  might  stall.  Clinical  databases  will  catch  up  for  some  condi2ons,  and  not  for  others.  For  some  medical  special2es,  use  of  gene2cs  will  come  before  it  does  for  others.  Regulatory  and  reimbursement  will  lag  always.  

Gene$c  Tests  related  to  Cancer  

2006   2011  new   2013  new   Total  

21  

81  

66  

178  

Breast  20  

Colorectal  9  

Hematologic  4  

Lung  4  

Prostate  4  

Genitourinary  3  

Ovarian  2  

Mul2ple  8  

Other  12  

Recent  

Knowledge  Informa$on  Data  

Screening  

Latent  Diagnosis  

Staging  Treatment  planning   Prognosis  

Monitoring  

Data  source:  Surveys,  AHRQ    

-­‐60%   -­‐40%   -­‐20%   0%   20%   40%   60%  

Prognosis  for  metastasis  

Prognosis  for  progression  

Treatment  monitoring  

Prognosis  for  recurrence  

Staging  

Treatment  planning  

Screening  

Latent  /  early  Dx  

Diagnosis  

Assay  Uses  for  which  Doctors  S$ll  Want  the  Most  Improvement