harmacogenomics and Personalized Medici Michael D. Kane, PhD sociate Professor, University Faculty Scholar, Graduate Education Ch Department of Computer and Information Technology College of Technology & Lead Genomic Scientist, Bindley Bioscience Center at Discovery Park Purdue University West Lafayette, Indiana 47907 bioinformatics.tech.purdue.edu Industry Positions: er: Genomic Guidance, LLC (Personalized Medicine, Information Management) er: Broadband Antenna Tracking Systems, Inc (Wireless Communications Technol ndustry Positions: er & President: Nucleico, LLC (Gene Expression Profiling, Microarrays) D: Genomic Solutions, Inc (Biotechnology Instrumentation and Software, Micro cientist: Pfizer Pharmaceuticals (Molecular Technologies Group) ic Advisor and Co-Inventor: Sensigen Diagnostics (Clinical HPV Detection)
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Pharmacogenomics and Personalized Medicine Michael D. Kane, PhD Associate Professor, University Faculty Scholar, Graduate Education Chair Department of.
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Pharmacogenomics and Personalized MedicineMichael D. Kane, PhD
Associate Professor, University Faculty Scholar, Graduate Education ChairDepartment of Computer and Information Technology
College of Technology&
Lead Genomic Scientist, Bindley Bioscience Center at Discovery ParkPurdue University
West Lafayette, Indiana 47907
bioinformatics.tech.purdue.edu
Current Industry Positions:Co-Founder: Genomic Guidance, LLC (Personalized Medicine, Information Management)Co-Founder: Broadband Antenna Tracking Systems, Inc (Wireless Communications Technology)
Former Industry Positions:Co-Founder & President: Nucleico, LLC (Gene Expression Profiling, Microarrays)VP of R&D: Genomic Solutions, Inc (Biotechnology Instrumentation and Software, Microarrays)Senior Scientist: Pfizer Pharmaceuticals (Molecular Technologies Group)Scientific Advisor and Co-Inventor: Sensigen Diagnostics (Clinical HPV Detection)
Yeast Genome Human Genome Onion Genome Lily Genome1.2 x 107 BP 3.3 x 109 BP 15 x 109 BP 90 x 109 BP(1/275x Human) (1x) (5x Human) (27x Human)
Single Nucleotide Polymorphisms (SNPs) are simple changes (or differences) in the DNA sequence that appear to have little or no impact on human health. They represent 90% of all human genetic variations.
Genetically similar to a mutation, but distinct in that a SNP is not causal to a clinical disease or disorder (or at least not yet causally linked, and not really applicable to ages >40 yrs old).
Across the human genome we average approximately 1 SNP for every 300 base pairs of DNA (over one million known SNPs that occur at a frequency of 1% or higher in the world population).
Important Consideration: Inheritance
The appearance of deleterious mutations during evolution tend to NOT be inherited for obvious reasons, at least those that affect growth, reproduction and viability.
…and our modern existence is the result of millions of years of tolerated (and occasionally beneficial) changes in our genome, which is most often evident in what we can and cannot eat or consume (think: evolutionary pressure & natural selection)
Monomethyl Hydrazine (in “False” Morel Mushrooms) Tylenol: Acetaminophen (Cats?)(many examples of “toxins” in nature, many of themare presumably synthesized to prevent consumptionor predation of the host plant or organism)
Introduction to PharmacoGenomics
Modern drug discovery & development falls outside the tolerances & toxicity that have resulted from evolution, because most of these compounds have NEVER been seen in nature.
More than 770,000 patients die or sustain serious injury every year in the U.S. from Adverse Drug Reactions (ADRs).
ADRs are therefore the 4th leading cause of death in the United States and are one of the leading, preventable public health issues today.
ADRs cost each hospital approximately $5.6 million per year.
In terms of total health care dollars, ADRs cost the U.S. health care system between $1.5 and $5.4 billion per year.
SNPs have been purposed to account for 24% of all ADRs.
Adverse Drug Reactions
The Pharmacogenomics of WarfarinWhen you ingest a drug, the drug is absorbed into the circulatory system and is distributed throughout the body.
The drug is then available to carry out its intended ‘mechanism of action’ (MOA). In the case of WARFARIN, it inhibits Vitamin K Epoxide Reductase Complex 1 (VKORC1), and reduces blood clotting. It is the largest selling anticoagulant in the world, and the leading case in support of Personalized Medicine”.
Subsequently, the body has the ability to eliminate the drug from the body through “drug metabolism”, which is primarily carried out in the liver. WARFARIN is metabolized primarily by the oxidative liver enzyme CYP2C9, which basically adds an oxygen group to the WARFARIN structure thereby inactivating its MOA and increasing its likelihood of elimination from the body via the kidneys (urine).
For this reason, drug tests that utilize urine a sample source often look for the “metabolite” of the drug in the urine, rather than the ingested drug.
IMPORTANT: If you are prescribed WARFARIN, you have a condition that generates potentially life-threatening blood clots. If you are dosed with too much WARFARIN you could die from complications due to internal bleeding, yet if you are dosed with too little WARFARIN you may be in danger of serious consequences due to circulating embolism.
Go to www.genescription.com
Genescription is a free, online training program in Personalized Medicine for instructors and healthcare professionals.(developed through a grant from Microsoft External Research)
From: Kane, et al. Drug Safety Assurance through Clinical Genotyping: Near-Term Considerations for a System-Wide Implementation of Personalized Medicine.Personalized Medicine 5(4): 387-397 (2008)
Examples of Clinically-Relevant SNPs
Evidence suggests that Healthcare will be a primary influence on the US economy for the next 50 years.
The “Workforce 2015: Strategy Trumps Shortage” describes how hospitals face the overlapping challenges of attracting and retaining replacements for retiring workers, expanding its workforce to care for an aging population, the greater demand for information technology professionals while coping with significant changes in healthcare delivery.
The “Global Healthcare Information Technology (2009 - 2014)” report states that the current healthcare information technology market is estimated to be $53.8 billion.
Where do YOU see professional, commercial, and entrepreneurial opportunities in this emerging area of healthcare?
From: Kane, et al. Drug Safety Assurance through Clinical Genotyping: Near-Term Considerations for a System-Wide Implementation of Personalized Medicine.Personalized Medicine 5(4): 387-397 (2008)
Clinical Genotyping Workflow in Healthcare
From: Kane, et al. Drug Safety Assurance through Clinical Genotyping: Near-Term Considerations for a System-Wide Implementation of Personalized Medicine.Personalized Medicine 5(4): 387-397 (2008)
Clinical Genotyping Workflow in Healthcare
Considerations for Clinical Genotyping Data Management and User Interface Design and Content in Healthcare
From: Kane, et al. Drug Safety Assurance through Clinical Genotyping: Near-Term Considerations for a System-Wide Implementation of Personalized Medicine.Personalized Medicine 5(4): 387-397 (2008)