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Using Electronic Medical Records to advance genomic medicine
Published on Jul 21, 20141679 Views
Personalized medicine offers the promise of improved diagnosis and for more effective, patient-specific therapies. Typically, such studies have been pursued using research cohorts. At Vanderbilt, we
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Chapter list
Using Electronic Medical Records to advance genomic medicine00:00
The vision00:00
How will this vision actually start to be tested and become reality?00:33
EHR feeds both discovery and implementation01:03
Vanderbilt BioVU: an Opt-Out DNA Biobank01:57
Vanderbilt BioVU: an Opt-Out DNA Biobank02:47
The Synthetic Derivative: updated regularly03:11
Synthetic Derivative03:54
BioVU as a resource for discovery05:17
What we learned - Finding phenotypes in the EMR06:33
The emerge network08:00
Hypothyroidism08:30
Hypothyroidism: “No-Genotyping” GWAS09:29
eMERGE GWAS completed09:42
Extreme Phenotypes: LDL values in BioVU10:13
Large scale GWAS for drug response discovery: the VESPA project11:23
Clopidogrel 2-oxoclopidogrel12:17
Predicting Warfarin Dose13:19
Two in-progress GWAS of Drug-ADEs from the EHR13:56
The genome-wide association study14:26
PheWAS of “all” NHGRI GWAS Catalog SNPs14:52
Replications of NHGRI GWAS associations via PheWAS15:12
PheWAS of all GWAS “hits”15:57
PheWAS of all GWAS “hits”16:40
Using PheWAS to refine understanding of GWAS: normal cardiac conduction17:04
What happens in the “heart healthy” population?17:34
The challenge of implementation18:06
A Case for Prospective Genotyping18:59
Genotype DB19:56
Clinical Decision Support within E-Prescribing20:52
Testing for clopidogrel efficacy21:13
Multiplexed testing for pharmacogenetic variants21:35
Multiplexed Genetic Testing can reduce testing too21:45
Initial analysis of Rx rates by CYP2C1922:12
PREDICT: Cost to Patient Clopidogrel vs. Alternatives22:45
eMERGE-PGx –Overall Goal23:16
Personalized medicine – not a new idea24:11
Thank you24:34