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Personalized Health Care

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.

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Personalized Health Care

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  1. 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 Father of Modern Medicine

  2. Personalized Health Care Arpana Jain PGY 4 Resident Dept Of Surgery University of Kentucky Nov 9, 2011 An Equal Opportunity University

  3. Medical practices that are targeted to individuals based on their specific genetic code in order to provide a tailored approach. These practices use preventive, diagnostic, and therapeutic interventions that are based on genetic tests. US Dept of Health and Human Services www.hhs.gov An Equal Opportunity University

  4. Personalized Medicine is not new…. All Surgical procedures are individualized - no two cholecystectomies are identical Medical treatment is tailored based on the patient's family history, social circumstances, environment and behaviors of the individual

  5. Variation in Health care CANCER PATIENTS RECEIVING LIFE SUSTAINING PROCEDURE DURING THE LAST MONTH OF LIFE

  6. Dealing with medical practice variations: a proposal for action. “….reason for the variation phenomenon is the individualistic practice styles adopted by physicians…. … because of ambiguous or incomplete scientific evidence on the value of specific services (treatment). To resolve the controversies– and to improve the opportunity for informed judgment on their use– better information on the outcome of care is needed.” Wennberg JE.1984. PMID 6432667 An Equal Opportunity University

  7. Evidence Based Care • Based on epidemiological studies on large cohort • Framingham Heart Study • NSABP trial (National Surgical Adjuvant Breast and Bowel Project) • Cochrane reviews • Does not account for genetic variation within a population cohort- too general!

  8. Personalized Care • Provides ability to differentiate between variations in the biology of individual patients • Help to reach right diagnosis (diagnostics) • Provide effective treatment (therapeutics) – case of ACE -, B Blocker • Enable us to spot the disease even before symptoms appear (prevention) • Identify our own predisposition to disease (predictive medicine)

  9. Why I need to know this? “The great thing in this world is not so much where we stand, as in what direction we are moving” Oliver Wendell Holmes, 1809-1894 Physician, Poet and Writer

  10. Human genetic variation is what makes “personalization” of disease treatment and prevention both necessary and possible. • Genomic technology tools • Genome sequencing • Single nucleotide polymorphisms (SNPs) to analysis of genetic variation • Microarrays for gene expression analysis

  11. Genome Sequencing • Human Genome Project 1988-2003 - sequencing 3 billion base pairs and costing $3 billion • Genome of James Watson sequenced in 2007 with in 2 months and less than $1 million • Knome and Beijing Genomics Institute offer sequencing at a price of $350 000 • Goal is to achieve $1000 genome in near future

  12. Single Nucleotide Polymorphism (SNP) • DNA sequence variation occurring when a single nucleotide — A, T, C or G — in the genome differs between members of a biological species or paired chromosomes in an individual. • Only 1% of genome has significant variation across individuals • 10 million SNP exist • Efforts of SNP consortium and International HapMap Project – 3.1 million SNPs identified and can be used for population level studies for genetic association of diseases • Used for Genome Wide Association mapping

  13. Single Nucleotide Polymorphism (SNP ) Only 1% of human genome has variation across individuals SNP is a single base pair variant that appear in at least 1% of population Estimated 10 million SNPs exist and can be correlated with disease Efforts of SNP consortium and International HapMap Project – 3.1 million SNPs as well as tag SNPs for disease association www.genome.gov/GWAStudies

  14. Microarray • Assays the expression of thousands of genes in parallel • High-density arrays of DNA probes on silicon wafers are available • Once validated, the DNA probe chip serve as the basis for diagnostic tests suitable for use in the clinic.

  15. Biospecimen Banks Longitudinal population cohort banks - Group of individuals who are representative of a population but not necessarily a disease. Example Framingham Heart Study bank Clinical case/control banks- contain samples from studies in which a population group with a particular disease is compared to a demographically similar group that does not suffer from the disease Disease-specific biospecimen banks- Example NSABP biobank

  16. Biobank… • National Cancer Institute spends greater than $50 million yearly on banking samples from cancer patients • Office of Biorepositories and Biospecimen Research at NCI develops and implements standards for specimen collection, processing, and storage and promotes specimen and data sharing • Markey Biospecimen Core Program manages its data through caTissue Suite, database developed by the NCI. Data is housed on a secure server at the Kentucky Cancer Registry.

  17. Biobank … Played central role in Genomic Health’s Oncotype Dx testing service to predict the risk of recurrence in early stage breast cancer patients . Genomic Health refined its gene list and conducted two major validating clinical studies of the test entirely on tissues banked by the NSABP A similar opportunity now exists to refine prognosis and redirect treatment in early stage lung cancer and a CALGB (Cancer and Leukemia Group B) sponsored clinical trial (30506, NCT00863512) developed to use an expression signature to randomize patients to surgical treatment with or without adjuvant chemotherapy

  18. Information technology tools • Fully interoperable, standardized electronic medical records serve as a platform for research into the correlation of genomic markers with clinical phenomena. • Clinical decision support tools integrated with medical records are essential for easy access to new diagnostic tests as well as resources for the interpretation of test results. • NCI initiated the Cancer Bioinformatics Information Grid (caBIG) to standardize data formats for genomic and phenotypic data captured in cancer research • KHIE architecture meets national standards to ensure interoperability across various health systems and connectivity to the National Health Information Network (NHIN)

  19. Economics • Reimbursement from Insurers • Cost saving with avoiding ineffective treatment and adverse effects and prevention of disease • Large scale investment for R and D • Federal grants – Tax payer money • Non profit organization • Venture Capital- 98 percent of the venture capital invested in healthcare has been devoted to biotechnology and medical devices. • Genomic Health invested over $100 million in the clinical development and marketing of the Oncotype Dx test • Now priced at $3 460, it has an operating margin of over 60%

  20. Model for development of personalized medicine World J Surg (2009)

  21. Personalized Surgery • Breast Cancer • BRAC1 and 2: Risk assessment of future Breast cancer and ovarian cancer • Oncotype Dx: Risk of recurrence, decision support tool for adjuvant therapy • Her2nu and Transtuzumab (Herceptin) – theranostics • Pancreatic cancer • microRNA (diagnosis), HSP27 (prognosis), Kras (efficacy of chemo-Gemcetabine), • TNF erade (immune therapy) • GI Stromal tumor- • c Kit and Imatinib (Gleevac) – theranostics • Colorectal cancer • FAP testing, MMP2 (prognosis), micro satellite instability (response to 5FU), • Response Dx Assay and ColoPrint

  22. Personalized Surgery… • Lung cancer • ERCC1 ,RRM1, EGFR(tailored chemo) • Response Dx (prediction of treatment response) • Ki67 , PIP3K/mTOR – early detection , marker of dysplasia • Cardiovascular • 9p21 as risk for CAD • Pharmacogenetics of warfarin, clopidogrel, anti hypertensive therapy, lipid lowering therapy • Cyt 2C19- 3 times risk of stent thrombosis

  23. Personalized Surgery…. • Trauma • GG ADRB2 genotype of autonomic receptors: 3-fold decrease in mortality odds • APOE-e4:TBI prognosis • Inflammation-wound healing • Biomarkers to predict wound healing • Molecular risk maps for IBD • Transplant • Pharmacogenetics of Tacrolimus • Complement associated SNP ( in addition of HLA matching)

  24. Ethics and Privacy • Genetic Information Nondiscrimination Act (GINA) 2008 – Protects against discrimination based on genetic information when it comes to health insurance and employment • Informed consent process that authorizes testing of deidentified samples for genetic characteristics not anticipated at the time of collection • Technology for encryption, password protection, audit trails, and specific access codes for establishing and maintaining the data

  25. Education and Training • Personalized Medicine at Academic Medical Centers – • Duke Personalized Medicine • Charles R. Bronfman Institute for Personalized Medicine - Mt Sinai, NY • Partners HealthCare Center for Personalized Genetic Medicine – Harvard • Center for Personalized Health Care - Ohio State University • Graduate and Doctoral programs - The Department of Microbiology, Immunology and Molecular Genetics at University of Kentucky

  26. Education … • CME- American College of Surgeons clinical congress 2011- Scientific program • Targeted therapies • Biomarkers/Genetic Determinants of Disease and Outcomes • Critical Care : The Biology of Inflammation • Pay attention to Grand Rounds !

  27. Personalized Medicine at UK • Clinical - • Treatment protocols and Clinical trials • Treatment decision tools • Genetic counseling • Research • Bio banking- Biospecimen Core Program • UK Advanced Genetic Technologies Center • Markey Cancer Center • Ovarian and Lung Cancer Biomarkers; Proteomics and sEGFR • Genomic DNA Array analysis of oncogenic signaling pathways • MicroRNA expression and responses to chemotherapy • TNFerade Biologic with-5-FU and Radiation Therapy for Advanced Pancreatic Cancer

  28. Future.. In coming years we will strengthen Evidence Based care and find ways to deliver best standards in care. We will also be moving towards new molecular based understanding of health and disease. When these two vectors meet, we will develop ways to deliver the care that works best on average but at the same time develop new tools for identifying best care for individual patient.

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