IT Infrastructure Required to Scale Personalized Medicine
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Copyright 2008 – Partners HealthCare – All Rights Reserved IT Infrastructure Required to Scale Personalized Medicine Sandy Aronson Executive Director of Information Technology Harvard Medical School – Partners HealthCare Center for Genetics and Genomics
Transcript of IT Infrastructure Required to Scale Personalized Medicine
Copyright 2008 – Partners HealthCare – All Rights Reserved
IT Infrastructure Required to Scale Personalized Medicine
Sandy AronsonExecutive Director of Information Technology
Harvard Medical School – Partners HealthCareCenter for Genetics and Genomics
Copyright 2008 – Partners HealthCare – All Rights Reserved
Our Goal
To build information infrastructure that improves patient care by enabling clinicians to effectively leverage increasing amounts of
genetic and genomic data
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Genetics in Current Clinical Practice
Clinician IdentifiesClinical Concern
Specific GeneticTest Ordered
Clinician Reviews Report and Applies Content to Clinical
DecisionsMedical Professional Writes Report Interpreting Result
Targeted Genetic/Genomic Test
Conducted
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Cost of DNA Sequencing
Cost / Base Pair
1995
1998
2005
2010
20150.0000001
0.000001
0.00001
0.0001
0.001
0.01
0.1
1
$1,000 Genome
Data adopted from:
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1 or 2 GeneSequencing Test
App
roximate Num
bers of Structured Re
sults Per Test
0‐10
10‐100
100‐
1,000
1,000‐
10,000
10,000
‐100,000
100,000‐
1,000,000
1,000,000‐
10,000,000
Evolution of Genomic Technologies
10‐15 GeneSequencing Test
High DensityGenotyping Chip
Whole GenomeSequencing
Assum
es Deltas from
Referen
ce Seq
uences Stored for Sequ
encing
Tests
In Clinical Use Today
Not in Clinical Use Today
Targeted Genotyping Test
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Broad Spectrum Genotyping Model (Not Current Clinical Practice)
Broad Spectrum Test Ordered
for General Use
Large Portions(or all of)
Patient’s DNASequenced / Genotyped
Hundreds of Thousands to
Millions of Variations for Each Patient
Stored ina Repository
Repository Routinely Accessed to Understand
Implications of Patient’s Genome
Will be Challengingto Properly Support
in the Clinic
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14.7 MinutesThe Medium Amount of Time a Clinician Has to Spend with Each of Their Patients
(Middleton KR, Hing E. National Hospital Ambulatory Medical Care Survey: 2004 outpatient department summary. Adv Data. Jun 23 2006(373):1-27. )
4 – 5 MillionEstimated Number of Differences Between
Each Person’s DNA and a Universal Reference Sequence
(Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, et al. (2007) The diploid genome sequence of an individual human. PLoS Biol 5(10): e254. doi:10.1371/journal.pbio.0050254)
9,582OMIM Entries Either Added or Updated in 2007
(OMIM Website)
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Genomic Contributions to Clinical Decision Making
What Genetic Variations Are Present in this Patient?
What is the Significance ofthe Variants Identified
Genetically Informed Decision Making Process
RarelyChanges
OftenChanges
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Supporting the Current Clinical Model
Gateway for Integrated Genomics-Proteomics Applications and Data (GIGPAD)
Manages physical aspects of the testing process.
Genomic VariantInterpretation Engine (GVIE) and GeneInsight
Manage interpretation of test results
Manages storage and security of structured genetic/genomic test resultsClinical Security
Context
Physician
Molecular Diagnostic Laboratory
Genetic / Genomic Testing
Testing Platform
Bioinformatics
Geneticist / Genetic Counselor
Electronic Medical Record
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GeneInsight - DNA Variant Knowledgebase
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GVIE
11
Variants Identified In Patients
GVIE
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EHR
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CDSS
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Support ClinicalDecision Making
Support Clinician Access to Genetic Information
Support Clinical Laboratory Effectiveness
Support Research Laboratory Effectiveness
Support Geneticist Workflow
IT Support for the Clinical Practice of Genetic/Genomic Based Personalized Medicine
Today’s Leading Edge
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Information is Dispersed
What Genetic Variations Are Present in this Patient?
What is the Significance ofthe Variants Identified?
Genetically Informed Decision Making Process
RarelyChanges
OftenChanges
ProviderLab
ExternalLab
ConsumerGenetic
CompanyLabs National
DatabasesClinicalOrgs
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The Many to Many Problem
Provider
Provider
Provider
Provider
Provider
Provider
Lab
Lab
Lab
ClinicianOrg
ClinicianOrg
NationalDB
Infeasible
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The Hub Concept
Provider
Provider
Provider
Provider
Provider
Provider
Lab
Lab
LabKnowledge and Data
Transfer Hub ClinicianOrg
ClinicianOrg
NationalDB
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GeneInsight Vision
ProviderEHRs PHRs Pharmacy
Systems
GeneInsightPublic Data
LaboratoryData
LaboratoryData
Conditionally Accessible
Private
ProfessionalOrganization
OtherData Source
