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Enabling the Future of Care Delivery: IT-Driven, Molecular Medicine   HIMSS Annual Conference February 27, 2007 Lyle Berko...
Our Ambitions “ To wrest from nature the secrets which have perplexed philosophers in all ages, to track to their sources ...
Agenda <ul><li>Background </li></ul><ul><li>The Great Integration </li></ul><ul><li>Implications and Future Thinking </li>...
The Promise Imagine when doctors can… <ul><li>Predict Disease  pre-symptomatically with simple testing </li></ul><ul><li>P...
Disease Burden Time Cost 1/reversibility Decision Support Tools:  Baseline Risk Preclinical Progression Disease  Initiatio...
Real World Examples <ul><li>Stable Genomics ( Inherited Genes ) </li></ul><ul><ul><li>BRCA 1 & 2  predictor of breast and ...
Evolving Applications <ul><li>Open Source Tools/Networks </li></ul>
The Great Integration Understand Apply
<ul><li>Genetic Banking </li></ul><ul><li>Clinical Collaboration </li></ul>NUGene Project  Understanding Genomics
NUGene: Data Flow & Privacy NUgene Database Coded Data Phenotypic Engine Encryption Decryption De-identification Process M...
Clinical Proteomics Initiative   Understanding Proteomics <ul><li>Background </li></ul><ul><ul><li>Joint initiative betwee...
Correlagen  Applying Genomics in the Real World <ul><li>Genes That Matter™  </li></ul><ul><li>Integrated Results Reporting...
Case Scenario #1 <ul><li>3yo male  </li></ul><ul><li>Acute lymphoblastic leukemia </li></ul><ul><li>Being treating with me...
Pharmacogenomic Alert Pharmacogenomic Alert This patient has a TMPT gene defect which indicates a high sensitivity to stan...
Case Scenario #2 <ul><li>32yo Female </li></ul><ul><li>New onset diabetes (non-ketotic) </li></ul><ul><li>Non-obese </li><...
Diagnostic Alert Dx Alert This patient fits the profile for MODY. Consider checking for MODY genetics [] Order MODY Geneti...
Treatment Alert  Treatment Alert Based on known genomic data and phenotype expression in this patient, the best treatment ...
Implications Things to start thinking about Personnel Storage Diagnose Treat Predict CDS
Impact on Other Players
The Future <ul><li>Technology Advancements </li></ul><ul><ul><li>The $1000 Complete Genome </li></ul></ul><ul><ul><li>BioM...
Resources <ul><li>The Human Genome Project :  www.genome.gov   </li></ul><ul><li>The NUGene Project :  www.NUGene.org   </...
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Genomics, Personalized Medicine and Electronic Medical Records

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We are now unlocking the secrets of health at a molecular level – which includes not only why some people get diseases, but also how to prevent or cure them. However, as Osler points out, knowing this information is only valuable in the context of making it available for the right patient at the right time.

This presentation provides a basic introduction to genomic or personalized medicine, and discusses how this information can and should be integrated into our electronic medical record systems.

These slides were originally presented at the HIMSS Annual Conference in February of 2007.

Published in: Health & Medicine, Technology
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Genomics, Personalized Medicine and Electronic Medical Records

  1. 1. Enabling the Future of Care Delivery: IT-Driven, Molecular Medicine HIMSS Annual Conference February 27, 2007 Lyle Berkowitz, MD Keith Strier, JD, PAHM
  2. 2. Our Ambitions “ To wrest from nature the secrets which have perplexed philosophers in all ages, to track to their sources the causes of disease, to correlate the vast stores of knowledge, that they may be quickly available for the prevention and cure of disease — these are our ambitions.” — Sir William Osler (1849 – 1919)
  3. 3. Agenda <ul><li>Background </li></ul><ul><li>The Great Integration </li></ul><ul><li>Implications and Future Thinking </li></ul>
  4. 4. The Promise Imagine when doctors can… <ul><li>Predict Disease pre-symptomatically with simple testing </li></ul><ul><li>Prevent Disease by identifying risks, early interventions </li></ul><ul><li>Diagnose Conditions less invasively, more accurately </li></ul><ul><li>Select Drugs that maximize benefits and minimize risks </li></ul><ul><li>Calibrate Treatments to heighten efficacy and recovery </li></ul><ul><li>Treat/Cure Disease using our own genes </li></ul>
  5. 5. Disease Burden Time Cost 1/reversibility Decision Support Tools: Baseline Risk Preclinical Progression Disease Initiation and Progression Assess Risk Refine Assessment Predict Diagnose Track Progression Predict Events Inform Therapeutics Sources of New Biomarkers: Stable Genomics: Single Nucleotide Polymorphisms Haplotype Mapping Gene Sequencing Dynamic Genomics: Gene Expression Proteomics Metabolomics Molecular Imaging Therapeutic Decision Support Source: “Personalized Medicine: Current and Future Perspectives,” Patricia Deverka, MD, Duke University, Institute for Genome Sciences and Policy; and Rick J. Carlson, JD, University of Washington Changing Paradigm of Care Typical Current Intervention Earliest Clinical Detection Earliest Molecular Detection Initiating Events Baseline Risk
  6. 6. Real World Examples <ul><li>Stable Genomics ( Inherited Genes ) </li></ul><ul><ul><li>BRCA 1 & 2 predictor of breast and ovarian cancer risks </li></ul></ul><ul><ul><li>LDLR and APOB predictor of developing early coronary artery disease </li></ul></ul><ul><ul><li>MODY 1-6 predictor of MODY diabetes; subtypes affect treatment choice </li></ul></ul><ul><ul><li>CYP2D6/C19 Main cytochrome P450 genes that affects drug metabolism  dosing </li></ul></ul><ul><ul><li>CYP2C9/VKORC1 variants in these cP450 genes affect warfarin metabolism </li></ul></ul><ul><ul><li>TPMT guides adjustment of Purinethol dosing in Acute Leukemia patients </li></ul></ul><ul><li>Dynamic Genomics ( Gene Expression, Biomarkers …) </li></ul><ul><ul><li>Estrogen Receptor predicts response to Tamoxifen in breast cancer </li></ul></ul><ul><ul><li>HER-2 Receptor predicts response to Herceptin in breast cancer </li></ul></ul><ul><ul><li>PSA predicts risk of prostate cancer </li></ul></ul><ul><ul><li>Cholesterol predicts risk of heart disease and strokes </li></ul></ul><ul><ul><li>HIV Genotyping to guide selection of therapy </li></ul></ul><ul><ul><li>PET Scans to diagnose and help manage treatment options for various cancers </li></ul></ul>
  7. 7. Evolving Applications <ul><li>Open Source Tools/Networks </li></ul>
  8. 8. The Great Integration Understand Apply
  9. 9. <ul><li>Genetic Banking </li></ul><ul><li>Clinical Collaboration </li></ul>NUGene Project Understanding Genomics
  10. 10. NUGene: Data Flow & Privacy NUgene Database Coded Data Phenotypic Engine Encryption Decryption De-identification Process Medical Record Participant Enrollment Materials Patient Identifiers NOTIS Phenotypic Data Warehouse
  11. 11. Clinical Proteomics Initiative Understanding Proteomics <ul><li>Background </li></ul><ul><ul><li>Joint initiative between the NCI and the FDA </li></ul></ul><ul><ul><li>Correlate protein and gene expression patterns </li></ul></ul><ul><ul><ul><li>Early detection and cancer screening </li></ul></ul></ul><ul><ul><ul><li>Establish therapeutic response endpoints </li></ul></ul></ul><ul><ul><ul><li>Monitor drug toxicity during treatment </li></ul></ul></ul><ul><li>Ovarian Cancer Project </li></ul><ul><ul><li>Phase 1: Identify diagnostic patterns </li></ul></ul><ul><ul><li>Phase 2: Confirm diagnostic ability </li></ul></ul><ul><ul><li>Phase 3: Test in real world </li></ul></ul>
  12. 12. Correlagen Applying Genomics in the Real World <ul><li>Genes That Matter™ </li></ul><ul><li>Integrated Results Reporting </li></ul><ul><li>Examples </li></ul><ul><ul><li>Maturity-Onset Diabetes of the Young (MODY) </li></ul></ul><ul><ul><li>Early-Onset Coronary Heart Disease </li></ul></ul><ul><ul><li>Severe Combined Immunodeficiency (SCID) </li></ul></ul>
  13. 13. Case Scenario #1 <ul><li>3yo male </li></ul><ul><li>Acute lymphoblastic leukemia </li></ul><ul><li>Being treating with mercaptopurine </li></ul>How do you currently manage this scenario? How will you manage this in the world of molecular medicine integrated with EMRs?
  14. 14. Pharmacogenomic Alert Pharmacogenomic Alert This patient has a TMPT gene defect which indicates a high sensitivity to standard doses of mercaptopurine. [] Cancel Drug Order [] Lower the standard dose (75mg/m2) by 85% to a modified dose (11.25 mg/m2) [] Ignore this Alert
  15. 15. Case Scenario #2 <ul><li>32yo Female </li></ul><ul><li>New onset diabetes (non-ketotic) </li></ul><ul><li>Non-obese </li></ul>How do you currently manage this scenario? How will you manage this in the world of molecular medicine integrated with EMRs?
  16. 16. Diagnostic Alert Dx Alert This patient fits the profile for MODY. Consider checking for MODY genetics [] Order MODY Genetic Screen [] Ignore Alert [] Learn more about MODY
  17. 17. Treatment Alert Treatment Alert Based on known genomic data and phenotype expression in this patient, the best treatment for their Type 1 MODY diabetes is to start with a sulfanurea. [] Change Order to a Sulfanurea [] Ignore Alert
  18. 18. Implications Things to start thinking about Personnel Storage Diagnose Treat Predict CDS
  19. 19. Impact on Other Players
  20. 20. The Future <ul><li>Technology Advancements </li></ul><ul><ul><li>The $1000 Complete Genome </li></ul></ul><ul><ul><li>BioMarker Testing: POC/Continuous </li></ul></ul><ul><ul><li>Superior Molecular Imaging </li></ul></ul><ul><li>Ethical, Financial and Regulatory Issues </li></ul><ul><ul><li>Who should get these tests </li></ul></ul><ul><ul><li>Who should pay for these tests </li></ul></ul><ul><ul><li>How should this data be stored </li></ul></ul><ul><ul><li>How will this data be used </li></ul></ul>Better, Faster, Cheaper
  21. 21. Resources <ul><li>The Human Genome Project : www.genome.gov </li></ul><ul><li>The NUGene Project : www.NUGene.org </li></ul><ul><li>Clinical Proteomics Project : http://proteomics.cancer.gov </li></ul><ul><li>The FDA and Genomics: www.fda.gov/cder/genomics </li></ul><ul><li>The CDC and Genomics: www.cdc.gov/genomics/default.htm </li></ul><ul><li>NIH & Pharmacogenetics : www.nigms.nih.gov/Initiatives/PGRN </li></ul><ul><li>Non-Profit Organizations </li></ul><ul><ul><li>http://bioitalliance.org </li></ul></ul><ul><ul><li>http://www.personalizedmedicinecoalition.org </li></ul></ul><ul><li>News and Updates </li></ul><ul><ul><li>http://www.ageofpersonalizedmedicine.org </li></ul></ul><ul><ul><li>http://www.genomenewsnetwork.org/ </li></ul></ul>
  22. 22. Thank You

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