1 Electronic Medical Records and Genomics: Possibilities, Realities, Ethical Issues to Consider Daniel Masys, M.D. Affiliate Professor Biomedical and Health Informatics University of Washington, Seattle
2 Possibilities: the world of personalized health and healthcare
3 The Human Genome Project: Draft sequence completed 2000 $3,000,000, years
4 The Vision Molecular and clinical biomarkers for health conditions individuals either have or are susceptible to Includes traditional healthcare history, physical findings, diagnostic imaging, standard clinical laboratories Increasingly: large volumes of molecular data Structural genomics: DNA in residence (~22,000 genes) Functional genomics: genes switched on (1 2% active) Proteomics (400,000 proteins from 22,000 genes)
5 The Vision, cont d Pharmacogenomics The right dose of the right drug for the right patient at the right time Drug development: Avoid drugs likely to cause side effects Re investigate backburner drugs Develop entirely new drugs targeting fundamental disease processes "Here's my sequence... New Yorker, 2000
6 The Genome Sequence is at hand so? The good news is that we have the human genome. The bad news is it s just a parts list
8 Realities 2012 Electronic Medical Records have already proven themselves to be a essential bidirectional channel for DNA enabled healthcare and for advancing health sciences
9 Example of current operational genomic EMR system: Vanderbilt PREDICT project Pharmacogenomic Resource for Enhanced Decisions In Care and Treatment. Go live date: September 2010 literature Guidance: Professional societies, FDA Replicate DNA association effect in local biobank Evidence review by P&T subcommittee implementation Prospective Genotyping: (e.g. Illumina ADME panel) Drug genotype pair in EMR Other genotypes outside EMR Point of care decision support Follow outcomes Is dose changed? Are outcomes affected? What do patients think?
10 As seen by providers at the moment of prescribing:
11 Electronic Medical Record genomic data as viewed by providers
12 Genomic data as viewed by patients
14 EMR data is advancing genomic health science: PheWAS: PHEnome Wide Association Studies GWAS: pick a phenotype interrogate the set of all genetic polymorphisms for association PheWAS: pick a genotype interrogate the set of all phenotypes (diseases) as recorded in EMR rs log(p-value) Prostatitis Crohn's disease
15 Alzheimer s Carotid artery disease Statin related myopathy Low HDL Cataracts Type II diabetes Asthma Group Health and UW, Seattle Mayo Clinic Marshfield Clinic Northwestern Geisinger Mt. Sinai Vanderbilt Myocardial infarction Peripheral vascular disease Coordinating center QRS duration
16 Realities of 2012 Our ability to acquire person specific DNA data far exceeds our understanding of its meaning Genetic data conclusively explains the basis for only a tiny set of the diseases of humans and responses to therapy As a result DNA data acquired now will likely need to be re interpreted many times over in the future as DNA science unfolds
17 General observations about clinical genomics Genomic data is the current poster child for complexity in healthcare No practitioner can absorb and remember more than a tiny fraction of the knowledge base of human variation Therefore, computerized clinical decision support is the only effective way to insert genomic variation based guidance into clinical care
18 Current state of EMR and decision support infrastructure Only 1.5% of US hospitals have full adoption of a comprehensive EMR* Only 17% of hospitals have computerized provider order entry (point for decision support alerts and reminders)* *Jha AK, Blumenthal D, et al. N Engl J Med Apr 16;360(16):
19 Issues to consider 1. Is it ethical to allow healthcare providers to continue to practice without a systems infrastructure for decision support?
20 The Need for Computerized Patient Specific Decision Support Facts per Decision Proteomics and other effector molecules Functional Genetics: Gene expression profiles Decisions by clinical phenotype i.e., traditional health care 10 Structural Genetics: e.g. SNPs, haplotypes Human Cognitive Capacity
21 Issues to consider 1. Is it ethical to allow healthcare providers to continue to practice without a systems infrastructure for decision support? 2. Is it ethical to discard person specific DNA data that currently has uncertain or unknown significance?
22 Most common current method for delivery of genotyping into clinical operations (discards DNA data obtained that has no demonstrated clinical relevance)
23 Issues to consider 1. Is it ethical to allow healthcare providers to continue to practice without a systems infrastructure for decision support? 2. Is it ethical to discard person specific DNA data that currently has uncertain or unknown significance? 3. How does genomic consent differ from standard consent for healthcare services?
24 How do terms of consent change When a person lacks basic genetic health literacy? When a health condition does not currently exist but may in the future? Treatable vs. (currently) non treatable conditions When a health condition has implications only for one s offspring, not self And the literacy and health preferences of one s heirs is different than one s own For incidental findings vs. disease specific testing?
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