SlideShare a Scribd company logo
2015	
  =	
  An	
  Inflec-on	
  Point	
  for	
  Genomics:	
  	
  
Shi:ing	
  the	
  Global	
  Care	
  Paradigm	
  
Hannes	
  Smarason	
  
	
  
Genome	
  Sequencing	
  |Personalized	
  Medicine	
  |	
  Transforming	
  Health	
  Care	
  
Diagnosing	
  Rare	
  Diseases:	
  Genomics	
  
Goes	
  Global,	
  Shi:s	
  Paradigm	
  
•  Rare	
  diseases	
  are	
  an	
  area	
  of	
  significant	
  advancement	
  for	
  
genomics,	
  driven	
  by	
  the	
  important	
  goal	
  of	
  reaching	
  all	
  people	
  
around	
  the	
  world,	
  no	
  maAer	
  where	
  they	
  live	
  
	
  
•  AcCve	
  programs	
  are	
  underway	
  in	
  many	
  populous	
  countries	
  
around	
  the	
  world,	
  and	
  WuXi	
  NextCODE	
  has	
  established	
  
collaboraCve	
  efforts	
  on	
  three	
  conCnents,	
  most	
  recently	
  
adding	
  Fudan	
  Children’s	
  Hospital	
  as	
  a	
  partner	
  in	
  its	
  efforts	
  to	
  
lead	
  whole	
  genome	
  diagnosCcs	
  for	
  rare	
  diseases	
  in	
  China	
  
Global	
  Genomics:	
  Bringing	
  an	
  End	
  
to	
  Diagnos-c	
  Odysseys	
  
•  Across	
  the	
  globe,	
  every	
  day	
  there	
  are	
  new	
  cases	
  of	
  children	
  with	
  “unknown”	
  
diseases.	
  
–  Approximately	
  80%	
  are	
  related	
  to	
  a	
  hereditary	
  geneCc	
  disorder.	
  
–  Children	
  with	
  rare	
  diseases	
  and	
  their	
  families	
  oWen	
  spend	
  years	
  undergoing	
  tesCng	
  and	
  
experimental	
  treatments	
  for	
  a	
  wide	
  range	
  of	
  diseases.	
  
–  These	
  “diagnosCc	
  odysseys”	
  are	
  usually	
  accompanied	
  by	
  a	
  very	
  high	
  financial	
  and	
  emoConal	
  
burden.	
  
•  Genomics	
  can	
  deliver	
  a	
  correct	
  and	
  precise	
  diagnosis	
  for	
  rare	
  diseases	
  that	
  have	
  
iden-fiable	
  gene-c	
  causes.	
  
	
  	
  
•  The	
  benefits	
  of	
  genomics	
  in	
  rare	
  diseases	
  –	
  to	
  individuals,	
  their	
  families,	
  and	
  their	
  
physicians	
  –	
  are	
  increasingly	
  making	
  a	
  difference	
  to	
  paCents.	
  	
  These	
  benefits	
  are	
  
being	
  scaled	
  globally,	
  as	
  leading	
  medical	
  centers	
  in	
  many	
  countries	
  are	
  using	
  
genomics	
  to	
  support	
  diagnosis	
  and	
  treatment	
  of	
  rare	
  diseases.	
  
	
  	
  
	
  
Global	
  Genomics	
  in	
  2015:	
  
Governments	
  as	
  Catalysts	
  
•  Around	
  the	
  globe,	
  governments	
  are:	
  
–  AcCvely	
  promoCng	
  widespread	
  uClizaCon	
  of	
  genomics;	
  
–  SupporCng	
  academic	
  research;	
  
–  Establishing	
  industry	
  guidelines;	
  and	
  	
  
–  Raising	
  public	
  awareness.	
  
	
  
•  The	
  increasing	
  efforts	
  of	
  officials	
  worldwide	
  to	
  engage	
  
with	
  and	
  support	
  the	
  private	
  sector’s	
  tremendous	
  
potenCal	
  is	
  helping	
  to	
  drive	
  the	
  successful	
  use	
  and	
  
applicaCon	
  of	
  genomics	
  worldwide.	
  
Global	
  Genomics	
  in	
  2015:	
  
Governments	
  as	
  Catalysts	
  
A	
  few	
  of	
  this	
  year’s	
  highlights	
  in	
  the	
  United	
  States	
  
•  President	
  Obama	
  made	
  precision	
  health	
  one	
  of	
  the	
  centerpieces	
  of	
  his	
  
State	
  of	
  the	
  Union	
  address	
  in	
  January.	
  Obama’s	
  administraCon	
  is	
  
requesCng	
  a	
  $215M	
  investment	
  in	
  a	
  Precision	
  Medicine	
  IniCaCve	
  with	
  
the	
  following	
  key	
  aAributes:	
  
–  CollecCon	
  and	
  analysis	
  of	
  genomic	
  data	
  from	
  a	
  million	
  or	
  more	
  volunteers;	
  
–  Expanded	
  research	
  into	
  the	
  geneCc	
  mutaCons	
  that	
  drive	
  cancer;	
  
–  Funding	
  to	
  maintain	
  databases	
  and	
  develop	
  industry	
  standards.	
  
–  Through	
  the	
  NaConal	
  InsCtutes	
  of	
  Health	
  and	
  the	
  NaConal	
  Cancer	
  InsCtute,	
  the	
  federal	
  
government	
  proposed	
  dozens	
  of	
  new	
  funding	
  opportuniCes	
  to	
  support	
  research	
  in	
  geneCc	
  
sequencing	
  and	
  analysis.	
  
	
  
Global	
  Genomics	
  in	
  2015:	
  
Governments	
  as	
  Catalysts	
  
And	
  a	
  few	
  of	
  this	
  year’s	
  highlights	
  worldwide:	
  
•  Germany	
  and	
  the	
  U.K.	
  expanded	
  eligibility	
  for	
  government-­‐funded	
  geneCc	
  tesCng	
  
for	
  breast	
  cancer	
  paCents.	
  
•  Israel	
  announced	
  its	
  intent	
  to	
  establish	
  a	
  government-­‐sponsored	
  geneCc	
  database.	
  
•  Japan	
  launched	
  an	
  IniCaCve	
  on	
  Rare	
  and	
  Undiagnosed	
  Diseases	
  to	
  provide	
  genomic	
  
analysis	
  and	
  expert	
  consultaCon	
  for	
  up	
  to	
  1,000	
  individuals	
  with	
  childhood	
  onset	
  of	
  
undiagnosed	
  condiCons.	
  
•  Through	
  Genomics	
  England,	
  the	
  U.K.	
  Department	
  of	
  Health	
  tapped	
  WuXi	
  NextCODE	
  
and	
  others	
  to	
  begin	
  interpretaCon	
  in	
  its	
  groundbreaking	
  100,000	
  Genomes	
  Project.	
  
•  WuXi	
  NextCODE	
  and	
  the	
  Sidra	
  Medical	
  and	
  Research	
  Center	
  partnered	
  to	
  power	
  
populaCon	
  genomics	
  and	
  precision	
  medicine	
  in	
  Qatar.	
  Our	
  partnership	
  will:	
  
–  Facilitate	
  clinical	
  diagnosCcs;	
  
–  Accelerate	
  research;	
  and	
  
–  Support	
  the	
  Qatar	
  Genome	
  Project.	
  
Global	
  Genomics:	
  	
  
Game-­‐Changing	
  Poten-al	
  
•  Large-­‐scale	
  populaCon	
  studies	
  are	
  an	
  essenCal	
  step	
  in	
  
harnessing	
  the	
  power	
  of	
  genomics	
  to:	
  
–  End	
  diagnosCc	
  odysseys	
  for	
  rare	
  diseases;	
  and	
  	
  
–  Improve	
  health	
  worldwide.	
  	
  	
  
•  Since	
  WuXi	
  NextCODE’s	
  foundaConal	
  heritage	
  as	
  part	
  of	
  
deCODE	
  GeneCcs’	
  landmark	
  analysis	
  of	
  Icelanders,	
  we	
  have	
  
always	
  developed	
  the	
  tools	
  to	
  help	
  translate	
  sequence	
  data	
  
into	
  precision	
  medicine	
  on	
  a	
  large	
  scale.	
  	
  	
  
–  In	
  our	
  work	
  with	
  Genomics	
  England,	
  our	
  collaboraCon	
  with	
  Fudan	
  Children’s	
  
Hospital	
  to	
  diagnose	
  rare	
  diseases	
  in	
  China,	
  and	
  our	
  partnership	
  with	
  Sidra,	
  
WuXi	
  NextCODE	
  is	
  leading	
  the	
  effort	
  to	
  realize	
  the	
  potenCal	
  of	
  	
  
genomics	
  on	
  a	
  truly	
  global	
  scale.	
  	
  

More Related Content

What's hot

Genomics: Shifting the Paradigm for Rare Diseases
Genomics: Shifting the Paradigm for Rare DiseasesGenomics: Shifting the Paradigm for Rare Diseases
Genomics: Shifting the Paradigm for Rare Diseases
Hannes Smárason
 
Lessons learned in scaling up
Lessons learned in scaling upLessons learned in scaling up
Lessons learned in scaling up
Warren Kibbe
 
Big data sharing
Big data sharingBig data sharing
Big data sharing
Warren Kibbe
 
CI4CC Cancer Informatics Perspectives
CI4CC Cancer Informatics PerspectivesCI4CC Cancer Informatics Perspectives
CI4CC Cancer Informatics Perspectives
Warren Kibbe
 
Frontiers of Predictive Oncology and Computing
Frontiers of Predictive Oncology and ComputingFrontiers of Predictive Oncology and Computing
Frontiers of Predictive Oncology and Computing
Warren Kibbe
 
Duke Industry Statistics Symposium - Real world evidence , EHRs and Cancer S...
Duke Industry Statistics Symposium -  Real world evidence , EHRs and Cancer S...Duke Industry Statistics Symposium -  Real world evidence , EHRs and Cancer S...
Duke Industry Statistics Symposium - Real world evidence , EHRs and Cancer S...
Warren Kibbe
 
Novellus DX
Novellus DXNovellus DX
Key Technologies for Genome Analysis
Key Technologies for Genome AnalysisKey Technologies for Genome Analysis
Key Technologies for Genome Analysis
Hannes Smárason
 
Paradigmshift in precision medicine
Paradigmshift in precision medicineParadigmshift in precision medicine
Paradigmshift in precision medicine
Alex Beer
 
VIVO Keynote
VIVO KeynoteVIVO Keynote
VIVO Keynote
Warren Kibbe
 
Why genomics needs telehealth to succeed - Lisa Alderson, Genome Medical - TFSS
Why genomics needs telehealth to succeed - Lisa Alderson, Genome Medical - TFSSWhy genomics needs telehealth to succeed - Lisa Alderson, Genome Medical - TFSS
Why genomics needs telehealth to succeed - Lisa Alderson, Genome Medical - TFSS
VSee
 
AHA SHAPE Symposium 2017 Dr. Greenland Presentation
AHA SHAPE Symposium 2017 Dr. Greenland PresentationAHA SHAPE Symposium 2017 Dr. Greenland Presentation
AHA SHAPE Symposium 2017 Dr. Greenland Presentation
Society for Heart Attack Prevention and Eradication
 
From Big Data to Precision Medicine
From Big Data to Precision Medicine From Big Data to Precision Medicine
From Big Data to Precision Medicine
Year of the X
 
Cadth 2015 c5 2. lacaze cadth symposium 2015 powerpoint
Cadth 2015 c5 2. lacaze cadth symposium 2015 powerpointCadth 2015 c5 2. lacaze cadth symposium 2015 powerpoint
Cadth 2015 c5 2. lacaze cadth symposium 2015 powerpoint
CADTH Symposium
 
ENAR 2020
ENAR 2020ENAR 2020
ENAR 2020
Warren Kibbe
 
Personalized Medicine with IBM-Watson: Future of Cancer care
Personalized Medicine with IBM-Watson: Future of Cancer carePersonalized Medicine with IBM-Watson: Future of Cancer care
Personalized Medicine with IBM-Watson: Future of Cancer care
jetweedy
 
USING EQUIST FOR BOTTLENECK ANALYSIS
USING EQUIST FOR BOTTLENECK ANALYSIS�USING EQUIST FOR BOTTLENECK ANALYSIS�
USING EQUIST FOR BOTTLENECK ANALYSIS
Dr. Adidja AMANI, MD MPH
 
Opportunities for computing in cancer research
Opportunities for computing in cancer researchOpportunities for computing in cancer research
Opportunities for computing in cancer research
Warren Kibbe
 
Caris Life Sciences Overview 2015
Caris Life Sciences Overview 2015Caris Life Sciences Overview 2015
Caris Life Sciences Overview 2015
Caris Life Sciences
 
Learning Health Systems
Learning Health SystemsLearning Health Systems

What's hot (20)

Genomics: Shifting the Paradigm for Rare Diseases
Genomics: Shifting the Paradigm for Rare DiseasesGenomics: Shifting the Paradigm for Rare Diseases
Genomics: Shifting the Paradigm for Rare Diseases
 
Lessons learned in scaling up
Lessons learned in scaling upLessons learned in scaling up
Lessons learned in scaling up
 
Big data sharing
Big data sharingBig data sharing
Big data sharing
 
CI4CC Cancer Informatics Perspectives
CI4CC Cancer Informatics PerspectivesCI4CC Cancer Informatics Perspectives
CI4CC Cancer Informatics Perspectives
 
Frontiers of Predictive Oncology and Computing
Frontiers of Predictive Oncology and ComputingFrontiers of Predictive Oncology and Computing
Frontiers of Predictive Oncology and Computing
 
Duke Industry Statistics Symposium - Real world evidence , EHRs and Cancer S...
Duke Industry Statistics Symposium -  Real world evidence , EHRs and Cancer S...Duke Industry Statistics Symposium -  Real world evidence , EHRs and Cancer S...
Duke Industry Statistics Symposium - Real world evidence , EHRs and Cancer S...
 
Novellus DX
Novellus DXNovellus DX
Novellus DX
 
Key Technologies for Genome Analysis
Key Technologies for Genome AnalysisKey Technologies for Genome Analysis
Key Technologies for Genome Analysis
 
Paradigmshift in precision medicine
Paradigmshift in precision medicineParadigmshift in precision medicine
Paradigmshift in precision medicine
 
VIVO Keynote
VIVO KeynoteVIVO Keynote
VIVO Keynote
 
Why genomics needs telehealth to succeed - Lisa Alderson, Genome Medical - TFSS
Why genomics needs telehealth to succeed - Lisa Alderson, Genome Medical - TFSSWhy genomics needs telehealth to succeed - Lisa Alderson, Genome Medical - TFSS
Why genomics needs telehealth to succeed - Lisa Alderson, Genome Medical - TFSS
 
AHA SHAPE Symposium 2017 Dr. Greenland Presentation
AHA SHAPE Symposium 2017 Dr. Greenland PresentationAHA SHAPE Symposium 2017 Dr. Greenland Presentation
AHA SHAPE Symposium 2017 Dr. Greenland Presentation
 
From Big Data to Precision Medicine
From Big Data to Precision Medicine From Big Data to Precision Medicine
From Big Data to Precision Medicine
 
Cadth 2015 c5 2. lacaze cadth symposium 2015 powerpoint
Cadth 2015 c5 2. lacaze cadth symposium 2015 powerpointCadth 2015 c5 2. lacaze cadth symposium 2015 powerpoint
Cadth 2015 c5 2. lacaze cadth symposium 2015 powerpoint
 
ENAR 2020
ENAR 2020ENAR 2020
ENAR 2020
 
Personalized Medicine with IBM-Watson: Future of Cancer care
Personalized Medicine with IBM-Watson: Future of Cancer carePersonalized Medicine with IBM-Watson: Future of Cancer care
Personalized Medicine with IBM-Watson: Future of Cancer care
 
USING EQUIST FOR BOTTLENECK ANALYSIS
USING EQUIST FOR BOTTLENECK ANALYSIS�USING EQUIST FOR BOTTLENECK ANALYSIS�
USING EQUIST FOR BOTTLENECK ANALYSIS
 
Opportunities for computing in cancer research
Opportunities for computing in cancer researchOpportunities for computing in cancer research
Opportunities for computing in cancer research
 
Caris Life Sciences Overview 2015
Caris Life Sciences Overview 2015Caris Life Sciences Overview 2015
Caris Life Sciences Overview 2015
 
Learning Health Systems
Learning Health SystemsLearning Health Systems
Learning Health Systems
 

Viewers also liked

Genome Big Data
Genome Big DataGenome Big Data
Genome Big Data
Adrian Baez-Ortega
 
Lightning fast genomics with Spark, Adam and Scala
Lightning fast genomics with Spark, Adam and ScalaLightning fast genomics with Spark, Adam and Scala
Lightning fast genomics with Spark, Adam and Scala
Andy Petrella
 
Challenges and Opportunities of Big Data Genomics
Challenges and Opportunities of Big Data GenomicsChallenges and Opportunities of Big Data Genomics
Challenges and Opportunities of Big Data Genomics
Yasin Memari
 
Plimmer® Capacitive Deionization at Idropan
Plimmer® Capacitive Deionization at IdropanPlimmer® Capacitive Deionization at Idropan
Plimmer® Capacitive Deionization at Idropan
IDROPAN DELL'ORTO DEPURATORI SRL
 
Fabricio Silva: Cloud Computing Technologies for Genomic Big Data Analysis
Fabricio  Silva: Cloud Computing Technologies for Genomic Big Data AnalysisFabricio  Silva: Cloud Computing Technologies for Genomic Big Data Analysis
Fabricio Silva: Cloud Computing Technologies for Genomic Big Data Analysis
Flávio Codeço Coelho
 
Visualizing the genome: Techniques for presenting genome data and annotations
Visualizing the genome: Techniques for presenting genome data and annotationsVisualizing the genome: Techniques for presenting genome data and annotations
Visualizing the genome: Techniques for presenting genome data and annotations
Ann Loraine
 
Big Data & the networked future of Science (at Ignite Seattle 7)
Big Data & the networked future of Science (at Ignite Seattle 7)Big Data & the networked future of Science (at Ignite Seattle 7)
Big Data & the networked future of Science (at Ignite Seattle 7)
Deepak Singh
 
Bioinformatics & Genomics December Newsletter
Bioinformatics & Genomics December NewsletterBioinformatics & Genomics December Newsletter
Bioinformatics & Genomics December Newsletter
Kelly Wickham
 
Human Genome and Big Data Challenges
Human Genome and Big Data ChallengesHuman Genome and Big Data Challenges
Human Genome and Big Data Challenges
Philip Bourne
 
Interviewing - why some questions are off limits
Interviewing - why some questions are off limitsInterviewing - why some questions are off limits
Interviewing - why some questions are off limits
Ann Loraine
 
Festival of Genomics 2016 London: Analyze Genomes: Modeling and Executing Gen...
Festival of Genomics 2016 London: Analyze Genomes: Modeling and Executing Gen...Festival of Genomics 2016 London: Analyze Genomes: Modeling and Executing Gen...
Festival of Genomics 2016 London: Analyze Genomes: Modeling and Executing Gen...
Matthieu Schapranow
 
Daily Snapshot - 2nd March 2017
Daily Snapshot - 2nd March 2017Daily Snapshot - 2nd March 2017
Daily Snapshot - 2nd March 2017
Tracxn
 

Viewers also liked (12)

Genome Big Data
Genome Big DataGenome Big Data
Genome Big Data
 
Lightning fast genomics with Spark, Adam and Scala
Lightning fast genomics with Spark, Adam and ScalaLightning fast genomics with Spark, Adam and Scala
Lightning fast genomics with Spark, Adam and Scala
 
Challenges and Opportunities of Big Data Genomics
Challenges and Opportunities of Big Data GenomicsChallenges and Opportunities of Big Data Genomics
Challenges and Opportunities of Big Data Genomics
 
Plimmer® Capacitive Deionization at Idropan
Plimmer® Capacitive Deionization at IdropanPlimmer® Capacitive Deionization at Idropan
Plimmer® Capacitive Deionization at Idropan
 
Fabricio Silva: Cloud Computing Technologies for Genomic Big Data Analysis
Fabricio  Silva: Cloud Computing Technologies for Genomic Big Data AnalysisFabricio  Silva: Cloud Computing Technologies for Genomic Big Data Analysis
Fabricio Silva: Cloud Computing Technologies for Genomic Big Data Analysis
 
Visualizing the genome: Techniques for presenting genome data and annotations
Visualizing the genome: Techniques for presenting genome data and annotationsVisualizing the genome: Techniques for presenting genome data and annotations
Visualizing the genome: Techniques for presenting genome data and annotations
 
Big Data & the networked future of Science (at Ignite Seattle 7)
Big Data & the networked future of Science (at Ignite Seattle 7)Big Data & the networked future of Science (at Ignite Seattle 7)
Big Data & the networked future of Science (at Ignite Seattle 7)
 
Bioinformatics & Genomics December Newsletter
Bioinformatics & Genomics December NewsletterBioinformatics & Genomics December Newsletter
Bioinformatics & Genomics December Newsletter
 
Human Genome and Big Data Challenges
Human Genome and Big Data ChallengesHuman Genome and Big Data Challenges
Human Genome and Big Data Challenges
 
Interviewing - why some questions are off limits
Interviewing - why some questions are off limitsInterviewing - why some questions are off limits
Interviewing - why some questions are off limits
 
Festival of Genomics 2016 London: Analyze Genomes: Modeling and Executing Gen...
Festival of Genomics 2016 London: Analyze Genomes: Modeling and Executing Gen...Festival of Genomics 2016 London: Analyze Genomes: Modeling and Executing Gen...
Festival of Genomics 2016 London: Analyze Genomes: Modeling and Executing Gen...
 
Daily Snapshot - 2nd March 2017
Daily Snapshot - 2nd March 2017Daily Snapshot - 2nd March 2017
Daily Snapshot - 2nd March 2017
 

Similar to Hannes Smarason: 2015 = An Inflection Point in Genomics

Personalized Medicine: Are we there yet?
Personalized Medicine: Are we there yet?Personalized Medicine: Are we there yet?
Personalized Medicine: Are we there yet?
Reid Robison
 
Global Health in the 21st Century
Global Health in the 21st CenturyGlobal Health in the 21st Century
Global Health in the 21st Century
tombesam
 
Global goal setting: a pathway to results 2.5 x 2025
Global goal setting: a pathway to results 2.5 x 2025Global goal setting: a pathway to results 2.5 x 2025
Global goal setting: a pathway to results 2.5 x 2025
Fundación Mexicana para la Salud A.C.
 
ATTACHMENT REPORT PRESENTATION
ATTACHMENT REPORT PRESENTATIONATTACHMENT REPORT PRESENTATION
ATTACHMENT REPORT PRESENTATION
James Sengu
 
kuwait national newborn screening program
kuwait national newborn screening programkuwait national newborn screening program
kuwait national newborn screening program
Newborn Screening KW
 
Day 1: 9:15am-10:45am Panel Slides (Nov 18) Access to Innovation Conference
Day 1: 9:15am-10:45am Panel Slides (Nov 18) Access to Innovation ConferenceDay 1: 9:15am-10:45am Panel Slides (Nov 18) Access to Innovation Conference
Day 1: 9:15am-10:45am Panel Slides (Nov 18) Access to Innovation Conference
Canadian Organization for Rare Disorders
 
The scourge of PPH in Nigeria.pptx
The scourge of PPH in Nigeria.pptxThe scourge of PPH in Nigeria.pptx
The scourge of PPH in Nigeria.pptx
duumnwachukwu
 
Jay Onysko: Rare Disease Day 2016 Conference
Jay Onysko: Rare Disease Day 2016 Conference Jay Onysko: Rare Disease Day 2016 Conference
Jay Onysko: Rare Disease Day 2016 Conference
Canadian Organization for Rare Disorders
 
Ccih2019 usaid-mnch-benjamin
Ccih2019 usaid-mnch-benjaminCcih2019 usaid-mnch-benjamin
Making long term family planning methods accessible to rural communities to r...
Making long term family planning methods accessible to rural communities to r...Making long term family planning methods accessible to rural communities to r...
Making long term family planning methods accessible to rural communities to r...
John Bako
 
Making long term family planning methods accessible to rural communities to r...
Making long term family planning methods accessible to rural communities to r...Making long term family planning methods accessible to rural communities to r...
Making long term family planning methods accessible to rural communities to r...
John Bako
 
Kuwait national newborn screening program october pediatric conference
Kuwait national newborn screening program october pediatric conferenceKuwait national newborn screening program october pediatric conference
Kuwait national newborn screening program october pediatric conference
DrMayAlRushood
 
Dimitra Dubrow - Maurice Blackburn Lawyers
Dimitra Dubrow - Maurice Blackburn LawyersDimitra Dubrow - Maurice Blackburn Lawyers
Dimitra Dubrow - Maurice Blackburn Lawyers
Informa Australia
 
Introduction to GIRHL_AB 021616
Introduction to GIRHL_AB 021616Introduction to GIRHL_AB 021616
Introduction to GIRHL_AB 021616
Beth Sterrett
 
La mascota program presentation for pogo
La mascota program presentation for pogoLa mascota program presentation for pogo
La mascota program presentation for pogo
HospitalLaMascota
 
DOH-PROGRAMS.pdf
DOH-PROGRAMS.pdfDOH-PROGRAMS.pdf
DOH-PROGRAMS.pdf
KheyaGwynRabago
 
NATIONAL AIDS CONTROL PROGRAMME(NACP) PPT BY KRITIKA.pptx
NATIONAL AIDS CONTROL PROGRAMME(NACP) PPT BY KRITIKA.pptxNATIONAL AIDS CONTROL PROGRAMME(NACP) PPT BY KRITIKA.pptx
NATIONAL AIDS CONTROL PROGRAMME(NACP) PPT BY KRITIKA.pptx
KritikaDhawan9
 
manajemen rumah sakit 2
manajemen rumah sakit 2manajemen rumah sakit 2
manajemen rumah sakit 2
rsd kol abundjani
 
Dr. Benjamin Park - Antimicrobial Resistance in Humans and the Global Health ...
Dr. Benjamin Park - Antimicrobial Resistance in Humans and the Global Health ...Dr. Benjamin Park - Antimicrobial Resistance in Humans and the Global Health ...
Dr. Benjamin Park - Antimicrobial Resistance in Humans and the Global Health ...
John Blue
 
Weitzman ECHO: Connecting Vulnerable Populations with Resource to Support Sel...
Weitzman ECHO: Connecting Vulnerable Populations with Resource to Support Sel...Weitzman ECHO: Connecting Vulnerable Populations with Resource to Support Sel...
Weitzman ECHO: Connecting Vulnerable Populations with Resource to Support Sel...
CHC Connecticut
 

Similar to Hannes Smarason: 2015 = An Inflection Point in Genomics (20)

Personalized Medicine: Are we there yet?
Personalized Medicine: Are we there yet?Personalized Medicine: Are we there yet?
Personalized Medicine: Are we there yet?
 
Global Health in the 21st Century
Global Health in the 21st CenturyGlobal Health in the 21st Century
Global Health in the 21st Century
 
Global goal setting: a pathway to results 2.5 x 2025
Global goal setting: a pathway to results 2.5 x 2025Global goal setting: a pathway to results 2.5 x 2025
Global goal setting: a pathway to results 2.5 x 2025
 
ATTACHMENT REPORT PRESENTATION
ATTACHMENT REPORT PRESENTATIONATTACHMENT REPORT PRESENTATION
ATTACHMENT REPORT PRESENTATION
 
kuwait national newborn screening program
kuwait national newborn screening programkuwait national newborn screening program
kuwait national newborn screening program
 
Day 1: 9:15am-10:45am Panel Slides (Nov 18) Access to Innovation Conference
Day 1: 9:15am-10:45am Panel Slides (Nov 18) Access to Innovation ConferenceDay 1: 9:15am-10:45am Panel Slides (Nov 18) Access to Innovation Conference
Day 1: 9:15am-10:45am Panel Slides (Nov 18) Access to Innovation Conference
 
The scourge of PPH in Nigeria.pptx
The scourge of PPH in Nigeria.pptxThe scourge of PPH in Nigeria.pptx
The scourge of PPH in Nigeria.pptx
 
Jay Onysko: Rare Disease Day 2016 Conference
Jay Onysko: Rare Disease Day 2016 Conference Jay Onysko: Rare Disease Day 2016 Conference
Jay Onysko: Rare Disease Day 2016 Conference
 
Ccih2019 usaid-mnch-benjamin
Ccih2019 usaid-mnch-benjaminCcih2019 usaid-mnch-benjamin
Ccih2019 usaid-mnch-benjamin
 
Making long term family planning methods accessible to rural communities to r...
Making long term family planning methods accessible to rural communities to r...Making long term family planning methods accessible to rural communities to r...
Making long term family planning methods accessible to rural communities to r...
 
Making long term family planning methods accessible to rural communities to r...
Making long term family planning methods accessible to rural communities to r...Making long term family planning methods accessible to rural communities to r...
Making long term family planning methods accessible to rural communities to r...
 
Kuwait national newborn screening program october pediatric conference
Kuwait national newborn screening program october pediatric conferenceKuwait national newborn screening program october pediatric conference
Kuwait national newborn screening program october pediatric conference
 
Dimitra Dubrow - Maurice Blackburn Lawyers
Dimitra Dubrow - Maurice Blackburn LawyersDimitra Dubrow - Maurice Blackburn Lawyers
Dimitra Dubrow - Maurice Blackburn Lawyers
 
Introduction to GIRHL_AB 021616
Introduction to GIRHL_AB 021616Introduction to GIRHL_AB 021616
Introduction to GIRHL_AB 021616
 
La mascota program presentation for pogo
La mascota program presentation for pogoLa mascota program presentation for pogo
La mascota program presentation for pogo
 
DOH-PROGRAMS.pdf
DOH-PROGRAMS.pdfDOH-PROGRAMS.pdf
DOH-PROGRAMS.pdf
 
NATIONAL AIDS CONTROL PROGRAMME(NACP) PPT BY KRITIKA.pptx
NATIONAL AIDS CONTROL PROGRAMME(NACP) PPT BY KRITIKA.pptxNATIONAL AIDS CONTROL PROGRAMME(NACP) PPT BY KRITIKA.pptx
NATIONAL AIDS CONTROL PROGRAMME(NACP) PPT BY KRITIKA.pptx
 
manajemen rumah sakit 2
manajemen rumah sakit 2manajemen rumah sakit 2
manajemen rumah sakit 2
 
Dr. Benjamin Park - Antimicrobial Resistance in Humans and the Global Health ...
Dr. Benjamin Park - Antimicrobial Resistance in Humans and the Global Health ...Dr. Benjamin Park - Antimicrobial Resistance in Humans and the Global Health ...
Dr. Benjamin Park - Antimicrobial Resistance in Humans and the Global Health ...
 
Weitzman ECHO: Connecting Vulnerable Populations with Resource to Support Sel...
Weitzman ECHO: Connecting Vulnerable Populations with Resource to Support Sel...Weitzman ECHO: Connecting Vulnerable Populations with Resource to Support Sel...
Weitzman ECHO: Connecting Vulnerable Populations with Resource to Support Sel...
 

Recently uploaded

Efficacy of Avartana Sneha in Ayurveda
Efficacy of Avartana Sneha in AyurvedaEfficacy of Avartana Sneha in Ayurveda
Efficacy of Avartana Sneha in Ayurveda
Dr. Jyothirmai Paindla
 
Promoting Wellbeing - Applied Social Psychology - Psychology SuperNotes
Promoting Wellbeing - Applied Social Psychology - Psychology SuperNotesPromoting Wellbeing - Applied Social Psychology - Psychology SuperNotes
Promoting Wellbeing - Applied Social Psychology - Psychology SuperNotes
PsychoTech Services
 
Top Travel Vaccinations in Manchester
Top Travel Vaccinations in ManchesterTop Travel Vaccinations in Manchester
Top Travel Vaccinations in Manchester
NX Healthcare
 
K CỔ TỬ CUNG.pdf tự ghi chép, chữ hơi xấu
K CỔ TỬ CUNG.pdf tự ghi chép, chữ hơi xấuK CỔ TỬ CUNG.pdf tự ghi chép, chữ hơi xấu
K CỔ TỬ CUNG.pdf tự ghi chép, chữ hơi xấu
HongBiThi1
 
Ear and its clinical correlations By Dr. Rabia Inam Gandapore.pptx
Ear and its clinical correlations By Dr. Rabia Inam Gandapore.pptxEar and its clinical correlations By Dr. Rabia Inam Gandapore.pptx
Ear and its clinical correlations By Dr. Rabia Inam Gandapore.pptx
Dr. Rabia Inam Gandapore
 
Complementary feeding in infant IAP PROTOCOLS
Complementary feeding in infant IAP PROTOCOLSComplementary feeding in infant IAP PROTOCOLS
Complementary feeding in infant IAP PROTOCOLS
chiranthgowda16
 
Adhd Medication Shortage Uk - trinexpharmacy.com
Adhd Medication Shortage Uk - trinexpharmacy.comAdhd Medication Shortage Uk - trinexpharmacy.com
Adhd Medication Shortage Uk - trinexpharmacy.com
reignlana06
 
Medical Quiz ( Online Quiz for API Meet 2024 ).pdf
Medical Quiz ( Online Quiz for API Meet 2024 ).pdfMedical Quiz ( Online Quiz for API Meet 2024 ).pdf
Medical Quiz ( Online Quiz for API Meet 2024 ).pdf
Jim Jacob Roy
 
CHEMOTHERAPY_RDP_CHAPTER 1_ANTI TB DRUGS.pdf
CHEMOTHERAPY_RDP_CHAPTER 1_ANTI TB DRUGS.pdfCHEMOTHERAPY_RDP_CHAPTER 1_ANTI TB DRUGS.pdf
CHEMOTHERAPY_RDP_CHAPTER 1_ANTI TB DRUGS.pdf
rishi2789
 
Abortion PG Seminar Power point presentation
Abortion PG Seminar Power point presentationAbortion PG Seminar Power point presentation
Abortion PG Seminar Power point presentation
AksshayaRajanbabu
 
pathology MCQS introduction to pathology general pathology
pathology MCQS introduction to pathology general pathologypathology MCQS introduction to pathology general pathology
pathology MCQS introduction to pathology general pathology
ZayedKhan38
 
Local Advanced Lung Cancer: Artificial Intelligence, Synergetics, Complex Sys...
Local Advanced Lung Cancer: Artificial Intelligence, Synergetics, Complex Sys...Local Advanced Lung Cancer: Artificial Intelligence, Synergetics, Complex Sys...
Local Advanced Lung Cancer: Artificial Intelligence, Synergetics, Complex Sys...
Oleg Kshivets
 
Journal Article Review on Rasamanikya
Journal Article Review on RasamanikyaJournal Article Review on Rasamanikya
Journal Article Review on Rasamanikya
Dr. Jyothirmai Paindla
 
CHEMOTHERAPY_RDP_CHAPTER 2 _LEPROSY.pdf1
CHEMOTHERAPY_RDP_CHAPTER 2 _LEPROSY.pdf1CHEMOTHERAPY_RDP_CHAPTER 2 _LEPROSY.pdf1
CHEMOTHERAPY_RDP_CHAPTER 2 _LEPROSY.pdf1
rishi2789
 
Cardiac Assessment for B.sc Nursing Student.pdf
Cardiac Assessment for B.sc Nursing Student.pdfCardiac Assessment for B.sc Nursing Student.pdf
Cardiac Assessment for B.sc Nursing Student.pdf
shivalingatalekar1
 
Physical demands in sports - WCSPT Oslo 2024
Physical demands in sports - WCSPT Oslo 2024Physical demands in sports - WCSPT Oslo 2024
Physical demands in sports - WCSPT Oslo 2024
Torstein Dalen-Lorentsen
 
All info about Diabetes and how to control it.
 All info about Diabetes and how to control it. All info about Diabetes and how to control it.
All info about Diabetes and how to control it.
Gokuldas Hospital
 
Netter's Atlas of Human Anatomy 7.ed.pdf
Netter's Atlas of Human Anatomy 7.ed.pdfNetter's Atlas of Human Anatomy 7.ed.pdf
Netter's Atlas of Human Anatomy 7.ed.pdf
BrissaOrtiz3
 
Does Over-Masturbation Contribute to Chronic Prostatitis.pptx
Does Over-Masturbation Contribute to Chronic Prostatitis.pptxDoes Over-Masturbation Contribute to Chronic Prostatitis.pptx
Does Over-Masturbation Contribute to Chronic Prostatitis.pptx
walterHu5
 
Aortic Association CBL Pilot April 19 – 20 Bern
Aortic Association CBL Pilot April 19 – 20 BernAortic Association CBL Pilot April 19 – 20 Bern
Aortic Association CBL Pilot April 19 – 20 Bern
suvadeepdas911
 

Recently uploaded (20)

Efficacy of Avartana Sneha in Ayurveda
Efficacy of Avartana Sneha in AyurvedaEfficacy of Avartana Sneha in Ayurveda
Efficacy of Avartana Sneha in Ayurveda
 
Promoting Wellbeing - Applied Social Psychology - Psychology SuperNotes
Promoting Wellbeing - Applied Social Psychology - Psychology SuperNotesPromoting Wellbeing - Applied Social Psychology - Psychology SuperNotes
Promoting Wellbeing - Applied Social Psychology - Psychology SuperNotes
 
Top Travel Vaccinations in Manchester
Top Travel Vaccinations in ManchesterTop Travel Vaccinations in Manchester
Top Travel Vaccinations in Manchester
 
K CỔ TỬ CUNG.pdf tự ghi chép, chữ hơi xấu
K CỔ TỬ CUNG.pdf tự ghi chép, chữ hơi xấuK CỔ TỬ CUNG.pdf tự ghi chép, chữ hơi xấu
K CỔ TỬ CUNG.pdf tự ghi chép, chữ hơi xấu
 
Ear and its clinical correlations By Dr. Rabia Inam Gandapore.pptx
Ear and its clinical correlations By Dr. Rabia Inam Gandapore.pptxEar and its clinical correlations By Dr. Rabia Inam Gandapore.pptx
Ear and its clinical correlations By Dr. Rabia Inam Gandapore.pptx
 
Complementary feeding in infant IAP PROTOCOLS
Complementary feeding in infant IAP PROTOCOLSComplementary feeding in infant IAP PROTOCOLS
Complementary feeding in infant IAP PROTOCOLS
 
Adhd Medication Shortage Uk - trinexpharmacy.com
Adhd Medication Shortage Uk - trinexpharmacy.comAdhd Medication Shortage Uk - trinexpharmacy.com
Adhd Medication Shortage Uk - trinexpharmacy.com
 
Medical Quiz ( Online Quiz for API Meet 2024 ).pdf
Medical Quiz ( Online Quiz for API Meet 2024 ).pdfMedical Quiz ( Online Quiz for API Meet 2024 ).pdf
Medical Quiz ( Online Quiz for API Meet 2024 ).pdf
 
CHEMOTHERAPY_RDP_CHAPTER 1_ANTI TB DRUGS.pdf
CHEMOTHERAPY_RDP_CHAPTER 1_ANTI TB DRUGS.pdfCHEMOTHERAPY_RDP_CHAPTER 1_ANTI TB DRUGS.pdf
CHEMOTHERAPY_RDP_CHAPTER 1_ANTI TB DRUGS.pdf
 
Abortion PG Seminar Power point presentation
Abortion PG Seminar Power point presentationAbortion PG Seminar Power point presentation
Abortion PG Seminar Power point presentation
 
pathology MCQS introduction to pathology general pathology
pathology MCQS introduction to pathology general pathologypathology MCQS introduction to pathology general pathology
pathology MCQS introduction to pathology general pathology
 
Local Advanced Lung Cancer: Artificial Intelligence, Synergetics, Complex Sys...
Local Advanced Lung Cancer: Artificial Intelligence, Synergetics, Complex Sys...Local Advanced Lung Cancer: Artificial Intelligence, Synergetics, Complex Sys...
Local Advanced Lung Cancer: Artificial Intelligence, Synergetics, Complex Sys...
 
Journal Article Review on Rasamanikya
Journal Article Review on RasamanikyaJournal Article Review on Rasamanikya
Journal Article Review on Rasamanikya
 
CHEMOTHERAPY_RDP_CHAPTER 2 _LEPROSY.pdf1
CHEMOTHERAPY_RDP_CHAPTER 2 _LEPROSY.pdf1CHEMOTHERAPY_RDP_CHAPTER 2 _LEPROSY.pdf1
CHEMOTHERAPY_RDP_CHAPTER 2 _LEPROSY.pdf1
 
Cardiac Assessment for B.sc Nursing Student.pdf
Cardiac Assessment for B.sc Nursing Student.pdfCardiac Assessment for B.sc Nursing Student.pdf
Cardiac Assessment for B.sc Nursing Student.pdf
 
Physical demands in sports - WCSPT Oslo 2024
Physical demands in sports - WCSPT Oslo 2024Physical demands in sports - WCSPT Oslo 2024
Physical demands in sports - WCSPT Oslo 2024
 
All info about Diabetes and how to control it.
 All info about Diabetes and how to control it. All info about Diabetes and how to control it.
All info about Diabetes and how to control it.
 
Netter's Atlas of Human Anatomy 7.ed.pdf
Netter's Atlas of Human Anatomy 7.ed.pdfNetter's Atlas of Human Anatomy 7.ed.pdf
Netter's Atlas of Human Anatomy 7.ed.pdf
 
Does Over-Masturbation Contribute to Chronic Prostatitis.pptx
Does Over-Masturbation Contribute to Chronic Prostatitis.pptxDoes Over-Masturbation Contribute to Chronic Prostatitis.pptx
Does Over-Masturbation Contribute to Chronic Prostatitis.pptx
 
Aortic Association CBL Pilot April 19 – 20 Bern
Aortic Association CBL Pilot April 19 – 20 BernAortic Association CBL Pilot April 19 – 20 Bern
Aortic Association CBL Pilot April 19 – 20 Bern
 

Hannes Smarason: 2015 = An Inflection Point in Genomics

  • 1. 2015  =  An  Inflec-on  Point  for  Genomics:     Shi:ing  the  Global  Care  Paradigm   Hannes  Smarason     Genome  Sequencing  |Personalized  Medicine  |  Transforming  Health  Care  
  • 2. Diagnosing  Rare  Diseases:  Genomics   Goes  Global,  Shi:s  Paradigm   •  Rare  diseases  are  an  area  of  significant  advancement  for   genomics,  driven  by  the  important  goal  of  reaching  all  people   around  the  world,  no  maAer  where  they  live     •  AcCve  programs  are  underway  in  many  populous  countries   around  the  world,  and  WuXi  NextCODE  has  established   collaboraCve  efforts  on  three  conCnents,  most  recently   adding  Fudan  Children’s  Hospital  as  a  partner  in  its  efforts  to   lead  whole  genome  diagnosCcs  for  rare  diseases  in  China  
  • 3. Global  Genomics:  Bringing  an  End   to  Diagnos-c  Odysseys   •  Across  the  globe,  every  day  there  are  new  cases  of  children  with  “unknown”   diseases.   –  Approximately  80%  are  related  to  a  hereditary  geneCc  disorder.   –  Children  with  rare  diseases  and  their  families  oWen  spend  years  undergoing  tesCng  and   experimental  treatments  for  a  wide  range  of  diseases.   –  These  “diagnosCc  odysseys”  are  usually  accompanied  by  a  very  high  financial  and  emoConal   burden.   •  Genomics  can  deliver  a  correct  and  precise  diagnosis  for  rare  diseases  that  have   iden-fiable  gene-c  causes.       •  The  benefits  of  genomics  in  rare  diseases  –  to  individuals,  their  families,  and  their   physicians  –  are  increasingly  making  a  difference  to  paCents.    These  benefits  are   being  scaled  globally,  as  leading  medical  centers  in  many  countries  are  using   genomics  to  support  diagnosis  and  treatment  of  rare  diseases.        
  • 4. Global  Genomics  in  2015:   Governments  as  Catalysts   •  Around  the  globe,  governments  are:   –  AcCvely  promoCng  widespread  uClizaCon  of  genomics;   –  SupporCng  academic  research;   –  Establishing  industry  guidelines;  and     –  Raising  public  awareness.     •  The  increasing  efforts  of  officials  worldwide  to  engage   with  and  support  the  private  sector’s  tremendous   potenCal  is  helping  to  drive  the  successful  use  and   applicaCon  of  genomics  worldwide.  
  • 5. Global  Genomics  in  2015:   Governments  as  Catalysts   A  few  of  this  year’s  highlights  in  the  United  States   •  President  Obama  made  precision  health  one  of  the  centerpieces  of  his   State  of  the  Union  address  in  January.  Obama’s  administraCon  is   requesCng  a  $215M  investment  in  a  Precision  Medicine  IniCaCve  with   the  following  key  aAributes:   –  CollecCon  and  analysis  of  genomic  data  from  a  million  or  more  volunteers;   –  Expanded  research  into  the  geneCc  mutaCons  that  drive  cancer;   –  Funding  to  maintain  databases  and  develop  industry  standards.   –  Through  the  NaConal  InsCtutes  of  Health  and  the  NaConal  Cancer  InsCtute,  the  federal   government  proposed  dozens  of  new  funding  opportuniCes  to  support  research  in  geneCc   sequencing  and  analysis.    
  • 6. Global  Genomics  in  2015:   Governments  as  Catalysts   And  a  few  of  this  year’s  highlights  worldwide:   •  Germany  and  the  U.K.  expanded  eligibility  for  government-­‐funded  geneCc  tesCng   for  breast  cancer  paCents.   •  Israel  announced  its  intent  to  establish  a  government-­‐sponsored  geneCc  database.   •  Japan  launched  an  IniCaCve  on  Rare  and  Undiagnosed  Diseases  to  provide  genomic   analysis  and  expert  consultaCon  for  up  to  1,000  individuals  with  childhood  onset  of   undiagnosed  condiCons.   •  Through  Genomics  England,  the  U.K.  Department  of  Health  tapped  WuXi  NextCODE   and  others  to  begin  interpretaCon  in  its  groundbreaking  100,000  Genomes  Project.   •  WuXi  NextCODE  and  the  Sidra  Medical  and  Research  Center  partnered  to  power   populaCon  genomics  and  precision  medicine  in  Qatar.  Our  partnership  will:   –  Facilitate  clinical  diagnosCcs;   –  Accelerate  research;  and   –  Support  the  Qatar  Genome  Project.  
  • 7. Global  Genomics:     Game-­‐Changing  Poten-al   •  Large-­‐scale  populaCon  studies  are  an  essenCal  step  in   harnessing  the  power  of  genomics  to:   –  End  diagnosCc  odysseys  for  rare  diseases;  and     –  Improve  health  worldwide.       •  Since  WuXi  NextCODE’s  foundaConal  heritage  as  part  of   deCODE  GeneCcs’  landmark  analysis  of  Icelanders,  we  have   always  developed  the  tools  to  help  translate  sequence  data   into  precision  medicine  on  a  large  scale.       –  In  our  work  with  Genomics  England,  our  collaboraCon  with  Fudan  Children’s   Hospital  to  diagnose  rare  diseases  in  China,  and  our  partnership  with  Sidra,   WuXi  NextCODE  is  leading  the  effort  to  realize  the  potenCal  of     genomics  on  a  truly  global  scale.