Future Trends: Translational Informatics

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Future Trends Translational Informatics

• James J. Cimino
• Chief, Laboratory for Informatics Development
• Mark O. Hatfield Clinical Research Center
• National Institutes of Health
• Institute for e-Health Policy, January 12, 2011

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Genetics 101
DNA
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The Genomic Timeline
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Translational Research
The application of research findings in one
domain of study to another, (usually broader)
domain.
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The Roles of Informatics
Clinical Knowledge
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Promise of Translational Informatics

• Diseases predicted by genes
• Effectiveness of prevention
• Diseases indicated by activation
• Appropriate testing
• Drug dose, toxicity and interactions
• Drug effectiveness

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Case Study

• Patient with liver cancer and chest pain
• Physician suspects pulmonary embolism
• What is the best, least invasive test?
• Will warfarin work to prevent further emboli?
• What is the warfarin dose for this patient?
• Will warfarin interact with other medications?

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How does the nose form?
Ontogeny

• Definitely genetic
• Not a big protein!
• 5 types of tissue
• Billions of cells
• Coordination in time and space
• How many genes?
• How many variants?

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Genomics of a Single Disease
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Why is this so hard?
Other Genes
Pathways
Replication
Translation
Amino Acids
DNA
Proteins
DNA
RNA
Transcription
Folding
Structures
Environment Factors

• 3 billion base pairs in the human genome
• 100 trillion cells in the human body

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Types of Translational Informatics

• Locating genetic sequences
• Identifying genetic mutations
• Tracking gene activation
• Modeling protein folding
• Simulating biologic pathways
• Drug discovery
• Personalized medicine

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The NIH and Translational Informatics

• GenBank

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The NIH and Translational Informatics

• GenBank
• Over 100 million sequences (100 billion bases)

• Genome-Wide Association Studies (GWAS)

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The NIH and Translational Informatics

• GenBank
• Over 100 million sequences (100 billion bases)
• Genome-Wide Association Studies (GWAS)
• study disease-specific genetic differences

• Database of Phenome and Genome (dbGAP)

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The NIH and Translational Informatics

• GenBank
• Over 100 million sequences (100 billion bases)
• Genome-Wide Association Studies (GWAS)
• study disease-specific genetic differences
• Database of Phenome and Genome (dbGAP)
• archive of genotype-phenotype studies

• Entrez

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The NIH and Translational Informatics

• GenBank
• Over 100 million sequences (100 billion bases)
• Genome-Wide Association Studies (GWAS)
• study disease-specific genetic differences
• Database of Phenome and Genome (dbGAP)
• archive of genotype-phenotype studies
• Entrez
• Cross-resource search tool for translational
  queries

• ClinSeq

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The NIH and Translational Informatics

• GenBank
• Over 100 million sequences (100 billion bases)
• Genome-Wide Association Studies (GWAS)
• study disease-specific genetic differences
• Database of Phenome and Genome (dbGAP)
• archive of genotype-phenotype studies
• Entrez
• Cross-resource search tool for translational
  queries
• ClinSeq
• Complete sequencing of 1000 individuals

• Biomedical Translational Research Information
  System (BTRIS)

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The NIH and Translational Informatics

• GenBank
• Over 100 million sequences (100 billion bases)
• Genome-Wide Association Studies (GWAS)
• study disease-specific genetic differences
• Database of Phenome and Genome (dbGAP)
• archive of genotype-phenotype studies
• Entrez
• Cross-resource search tool for translational
  queries
• ClinSeq
• Complete sequencing of 1000 individuals
• Biomedical Translational Research Information
  System (BTRIS)
• reusing clinical research data (1.5 billion rows
  of data)

• Infobuttons

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The NIH and Translational Informatics

• GenBank
• Over 100 million sequences (100 billion bases)
• Genome-Wide Association Studies (GWAS)
• study disease-specific genetic differences
• Database of Phenome and Genome (dbGAP)
• archive of genotype-phenotype studies
• Entrez
• Cross-resource search tool for translational
  queries
• ClinSeq
• Complete sequencing of 1000 individuals
• Biomedical Translational Research Information
  System (BTRIS)
• reusing clinical research data (1.5 billion rows
  of data)
• Infobuttons
• delivering translational knowledge to the point
  of care

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Now What?

• This biology stuff is complicated
• Translational research is about applying findings
  from one domain to another domain
• Translational informatics is the key to
  communicating data and knowledge between domains
• Translational informatics research is a new field
• We still need
• Informatics research support (NCTR? NCTI? NIBI?)
• Training (extramural and intramural)
• Support for collaborative efforts (CTSAs)
• Centralization of resources for efficiency and
  equity