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Personalized Medicine: Current and Future Perspectives Patricia Deverka, MD, MBe Duke University, Institute for Genome Sci...
Background <ul><li>Pat Deverka </li></ul><ul><ul><li>Fellow at Duke’s Center for Genome Ethics, Law and Policy </li></ul><...
Personalized Medicine <ul><li>What is It:  definitions </li></ul><ul><li>What are some examples </li></ul><ul><li>What are...
What Is It? <ul><li>Personalized health care is a broad term for interventions that are targeted to individuals based on t...
Personalized Medicine:  Vision  vs.  Reality <ul><li>Disruptive developments in science and technology </li></ul><ul><li>C...
Tools Needed for Prediction and Personalized Care Disease Burden Time Cost 1/reversibility Decision Support Tools:  Baseli...
Prospective Health Care Risk Assessment and Decision Support Tools Personal Lifestyle Plan Disease Management Risk Modific...
What are some examples? Dosing of warfarin VKOR/CYP2C9 Guide prescribing/ adjust dose of ~25% of commonly used drugs CYP2D...
The Leading Edge: Pharmacogenomics  (PGx ) <ul><li>Using an individual’s genetic profile to predict response to certain dr...
Key distinctions between PGx testing  and traditional genetic testing <ul><li>Disease predisposition testing often does no...
Key Stakeholder Positions
Private Payers <ul><li>Poor understanding of genomics; </li></ul><ul><li>Poor and inconsistent technology assessment </li>...
Payer perspective: what will be the impact of pharmacogenomics on total healthcare costs? <ul><li>Decreased healthcare cos...
Providers, Physicians <ul><li>Lack of genetics literacy </li></ul><ul><li>Intensifying payer pressures for evidence-based ...
Developers of Bio-Pharmaceutical Products and Services <ul><li>Need to make the business case payers won’t make for them; ...
Government <ul><li>Need for proactive policy </li></ul><ul><li>Lead IT and standardization </li></ul><ul><li>CMS to jawbon...
Consumers <ul><li>First, distinguish between those who are sick and everyone else; very differing views; both to be respec...
Emerging ethical, legal, policy  ( ELP) issues
ELP concerns in clinical research <ul><li>Informed consent in the era of DNA banking </li></ul><ul><li>Privacy and confide...
PGx research requires creation of biorepositories linking genotypic and phenotypic information <ul><ul><li>Informed consen...
ELP issues in clinical practice <ul><li>Marketplace introduction of PGx testing without adequate validation </li></ul><ul>...
Rapid and unmanaged introduction of genetic tests into marketplace <ul><li>Inappropriately induces demand for services </l...
When might direct consumer access to PGx testing be permissible? <ul><li>When tests meet appropriate standards of analytic...
What Are the Major Policy Issues? <ul><li>Costs, overall, and specialty drugs---constraints on research </li></ul><ul><li>...
What Does it Mean for You?  <ul><li>Your experience, however painful, becomes the experience of everybody </li></ul><ul><l...
PM requires coordination across multiple stakeholders Producers Consumers PGX Diagnostic Companies Government & Universiti...
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Personalized Medicine: Current and Future Perspectives Personalized Medicine: Current and Future Perspectives

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Transcript of "Personalized Medicine: Current and Future Perspectives Personalized Medicine: Current and Future Perspectives"

  1. 1. Personalized Medicine: Current and Future Perspectives Patricia Deverka, MD, MBe Duke University, Institute for Genome Sciences and Policy Rick J. Carlson, JD University of Washington
  2. 2. Background <ul><li>Pat Deverka </li></ul><ul><ul><li>Fellow at Duke’s Center for Genome Ethics, Law and Policy </li></ul></ul><ul><ul><li>Member of PMC </li></ul></ul><ul><ul><li>Preventive Medicine, outcomes research, health economics research, bioethics </li></ul></ul><ul><ul><li>Industry experience </li></ul></ul><ul><li>Rick Carlson </li></ul><ul><li>-- Clinical Professor, Department of Health Services, Affiliate Professor, Department of Pharmacy, School of Public Health, University of Washington </li></ul><ul><li>--Advisor, Public Policy, UW Genomics Research Projects; </li></ul><ul><li>--Advisor on Stakeholder positions, CDC, HRSA, NHGRI </li></ul><ul><li>--35 years, Health Care industry experience </li></ul>
  3. 3. Personalized Medicine <ul><li>What is It: definitions </li></ul><ul><li>What are some examples </li></ul><ul><li>What are the key issues confronting health care system stakeholders </li></ul><ul><li>What are the major policy issues </li></ul><ul><li>What does it mean for you </li></ul>
  4. 4. What Is It? <ul><li>Personalized health care is a broad term for interventions that are targeted to individuals based on their risk in order to provide a more coherent and focused approach to health care. Personalized health care includes preventive, diagnostic, and therapeutic interventions, with risk defined through genetics as well as clinical and family histories.* </li></ul><ul><li>More technology-focused definition relies on use of molecular testing to define risk, e.g., genetics, genomics, proteomics, metabolomics, etc. </li></ul><ul><li>Goals include greater effectiveness and efficiency of health care delivery as well as improved health outcomes and quality of life </li></ul>*Kathyrn Phillips, UCSF
  5. 5. Personalized Medicine: Vision vs. Reality <ul><li>Disruptive developments in science and technology </li></ul><ul><li>Convergence of molecular biology, genetics, advanced technology, bioinformatics, broadband </li></ul><ul><li>“ Team science” </li></ul><ul><li>Transformational changes in medicine </li></ul><ul><ul><li>Molecular-based products and services </li></ul></ul><ul><ul><li>Shift towards prevention </li></ul></ul><ul><ul><li>Reclassification of disease </li></ul></ul><ul><ul><li>Integration and coordination </li></ul></ul><ul><ul><li>IT solutions; Interoperability </li></ul></ul><ul><ul><li>Consumer-centered </li></ul></ul><ul><ul><li>Premise that knowledge will change behavior </li></ul></ul><ul><li>Huge public & private investments in R&D </li></ul><ul><li>Health as a national asset </li></ul><ul><li>Ethical, legal and policy issues addressed in parallel with the science </li></ul><ul><li>Healthcare delivery focused on “sick care” </li></ul><ul><ul><li>Standardization for quality improvement </li></ul></ul><ul><li>Fragmented, lack of coordination </li></ul><ul><li>Costs growing and unsustainable </li></ul><ul><ul><li>Pressures of expensive new technologies </li></ul></ul><ul><ul><li>Aging population in search of new services </li></ul></ul><ul><ul><li>Millions of Americans under- or uninsured </li></ul></ul><ul><ul><li>Employer-based system tenuous </li></ul></ul><ul><ul><li>No evidence of healthier citizenry </li></ul></ul><ul><li>Inefficient use of information </li></ul><ul><ul><li>Lack of IT investment, connectivity </li></ul></ul><ul><li>Evidence base for medicine inadequate </li></ul><ul><ul><li>Continuing debate about role of cost-effectiveness </li></ul></ul><ul><li>Huge provider knowledge gaps re genomics </li></ul><ul><li>Complicated regulatory framework </li></ul><ul><li>Reimbursement hurdles and uncertainties </li></ul><ul><li>Powerful stakeholders in current system resist change </li></ul>
  6. 6. Tools Needed for Prediction and Personalized Care Disease Burden Time Cost 1/reversibility Decision Support Tools: Baseline Risk Preclinical Progression Disease Initiation and Progression Assess Risk Refine Assessment Predict/Diagnose Monitor Progression Predict Events Inform Therapeutics Sources of New Biomarkers: Stable Genomics: Single Nucleotide Polymorphisms (SNPs) Haplotype Mapping Gene Sequencing Dynamic Genomics: Gene Expression Proteomics Metabolomics Molecular Imaging Therapeutic Decision Support Typical Current Intervention Earliest Clinical Detection Earliest Molecular Detection Initiating Events Baseline Risk
  7. 7. Prospective Health Care Risk Assessment and Decision Support Tools Personal Lifestyle Plan Disease Management Risk Modification Disease Burden Time Low Risk High Risk Early Chronic Cost 1/reversibility Personalized Health Plan Late Chronic Participating Population
  8. 8. What are some examples? Dosing of warfarin VKOR/CYP2C9 Guide prescribing/ adjust dose of ~25% of commonly used drugs CYP2D6/CYP2D19 Avoid use of chemotherapy in breast CA patients with low risk of recurrence Transcriptional profile – 21 genes Breast and ovarian cancer inherited risk, prophylactic tamoxifen and surgery BRCA1/2 Select Herceptin (trastuzumab) for breast cancer Her-2/neu receptor Application Biomarker
  9. 9. The Leading Edge: Pharmacogenomics (PGx ) <ul><li>Using an individual’s genetic profile to predict response to certain drugs </li></ul><ul><li>Clinical goal is to enable better drug treatment decisions and safer medical care </li></ul><ul><li>Pharmaceutical industry goal is to develop more predictable and more effective drugs </li></ul><ul><li>Genetic tests already in use to predict patient response to therapy in the fields of cancer and infectious disease </li></ul><ul><li>PGx has the potential to revolutionize how drugs are developed and prescribed in the future </li></ul><ul><li>Faces fewest hurdles to clinical integration because does not require major healthcare delivery system redesign </li></ul>
  10. 10. Key distinctions between PGx testing and traditional genetic testing <ul><li>Disease predisposition testing often does not have an obvious treatment </li></ul><ul><li>For PGx testing, an FDA approved drug is the treatment - goal is an adjustment in what managed care is already covering </li></ul><ul><li>Less likely to create new consumer demand for services </li></ul><ul><li>PGx more likely to be cost-effective in short-term as the treatments and alternatives are known </li></ul><ul><li>If PGx testing has adequate +/- predictive value, may be unethical to prescribe without testing </li></ul>
  11. 11. Key Stakeholder Positions
  12. 12. Private Payers <ul><li>Poor understanding of genomics; </li></ul><ul><li>Poor and inconsistent technology assessment </li></ul><ul><li>Apprehensive about specialty drug prices </li></ul><ul><li>Most don’t see the business case yet </li></ul><ul><li>Assessing proportional value for diagnostic health information </li></ul><ul><li>More prepared for PGx than predictive testing </li></ul>
  13. 13. Payer perspective: what will be the impact of pharmacogenomics on total healthcare costs? <ul><li>Decreased healthcare costs </li></ul><ul><li>Avoid use of expensive drugs in non-responders </li></ul><ul><li>Save patients avoidable adverse effects </li></ul><ul><li>Improve compliance </li></ul><ul><li>Improved health outcomes </li></ul><ul><li>System cost offsets </li></ul><ul><li>Increased healthcare costs </li></ul><ul><li>Higher drug prices </li></ul><ul><li>Expanded patient populations for drugs </li></ul><ul><li>Enforcement of privacy safeguards </li></ul><ul><li>Extended patent protection </li></ul><ul><li>Diagnostic tests required </li></ul>
  14. 14. Providers, Physicians <ul><li>Lack of genetics literacy </li></ul><ul><li>Intensifying payer pressures for evidence-based practice and the lag in Genomics R&D </li></ul><ul><li>Lack of IT designed for docs, “how to deliver” genomics; specialization or primary care </li></ul><ul><li>The problematic economics of personalized medicine; will reimbursement match the time it takes to target? </li></ul>
  15. 15. Developers of Bio-Pharmaceutical Products and Services <ul><li>Need to make the business case payers won’t make for them; </li></ul><ul><li>Quantifying the value of information; </li></ul><ul><li>Work out relationships between Rx and DX; </li></ul><ul><li>Participate vigorously in policy for technology assessment and regulatory model development. </li></ul>
  16. 16. Government <ul><li>Need for proactive policy </li></ul><ul><li>Lead IT and standardization </li></ul><ul><li>CMS to jawbone; fix the FDA </li></ul><ul><li>Proportionate funding for “translational” work </li></ul><ul><li>Keep pushing IT and align IP with genomics agenda </li></ul><ul><li>Facilitate early bioethics dialog </li></ul>
  17. 17. Consumers <ul><li>First, distinguish between those who are sick and everyone else; very differing views; both to be respected </li></ul><ul><li>Beginning to “think” genetics </li></ul><ul><li>Need for trusted information, access and choice </li></ul><ul><li>Fears of exploitation, aggravation of existing disparities, and job and health care discrimination </li></ul><ul><li>Bio-engineering soon? </li></ul>
  18. 18. Emerging ethical, legal, policy ( ELP) issues
  19. 19. ELP concerns in clinical research <ul><li>Informed consent in the era of DNA banking </li></ul><ul><li>Privacy and confidentiality concerns </li></ul><ul><ul><li>Degree of anonymization is critical </li></ul></ul><ul><ul><li>Procedures to limit unauthorized disclosures </li></ul></ul><ul><ul><li>Potential for discrimination </li></ul></ul><ul><li>Harms to families or groups </li></ul><ul><ul><li>Collateral information </li></ul></ul><ul><ul><li>Race-related information </li></ul></ul><ul><li>Stratification </li></ul><ul><ul><li>Orphan subgroups </li></ul></ul><ul><ul><li>Genetically homogenous groups resulting in less safety data </li></ul></ul><ul><li>Incentive structure </li></ul><ul><ul><li>IP issues </li></ul></ul><ul><ul><li>Focus by pharmaceutical companies on new drugs, rather than marketed drugs (branded and generic) </li></ul></ul>
  20. 20. PGx research requires creation of biorepositories linking genotypic and phenotypic information <ul><ul><li>Informed consent framework adapting to unique aspects of biorepositories </li></ul></ul><ul><ul><li>Shift in emphasis from protecting subjects from physical harms to primarily informational harms </li></ul></ul><ul><ul><li>Consent to all unspecified future research studies (blanket consent) may not be considered sufficient to meet the standards of informed consent </li></ul></ul><ul><ul><ul><li>Difficulties associated with reconsent procedures </li></ul></ul></ul><ul><ul><li>Exclusive focus on the individual research subject is arbitrary from an ethical standpoint </li></ul></ul><ul><ul><li>Recognition of potential for group harms, even with anonymized samples </li></ul></ul><ul><ul><li>Debate over the importance of research participants having some measure of control over the research done with their stored tissue </li></ul></ul><ul><ul><li>Narrow criteria for recontact and disclosure of results </li></ul></ul><ul><ul><ul><li>Do investigators have a duty to contact participants years after a study is completed? </li></ul></ul></ul><ul><ul><li>Separation of informed consent for collection and storage of tissue samples for PGx testing from participation in clinical trials </li></ul></ul>
  21. 21. ELP issues in clinical practice <ul><li>Marketplace introduction of PGx testing without adequate validation </li></ul><ul><ul><li>Lack appropriate regulatory framework </li></ul></ul><ul><ul><li>Failure to define a clinically and economically relevant evidence base for PGx tests and test-drug combinations </li></ul></ul><ul><li>Suboptimal access to and use of PGx testing </li></ul><ul><ul><li>Professional and payer knowledge gaps about genetics </li></ul></ul><ul><ul><li>Defining physician obligations to offer a PGx test and obligations to follow PGx test results </li></ul></ul><ul><li>Liability </li></ul><ul><ul><li>Physicians, pharmacists, pharmaceutical companies </li></ul></ul><ul><li>Testing without adequate consent </li></ul><ul><li>Inappropriate uses of PGx testing as a result of direct marketing (DTC advertising) </li></ul><ul><li>Secondary information conveyed by PGx results that may produce psychosocial harms </li></ul><ul><ul><li>Likelihood of other diseases; Progression of current disease </li></ul></ul><ul><ul><li>Unsolicited information about family members </li></ul></ul><ul><li>Discriminatory uses of PGx information by third parties </li></ul><ul><ul><li>Insurers/Employers - based on belief that disease cannot be adequately treated given currently available therapies or based on knowledge of disease predisposition </li></ul></ul><ul><li>Higher drug costs leading to barriers to access </li></ul>
  22. 22. Rapid and unmanaged introduction of genetic tests into marketplace <ul><li>Inappropriately induces demand for services </li></ul><ul><li>Hype </li></ul><ul><ul><li>Reinforces notion of genetic determinism and essentialism </li></ul></ul><ul><li>Predictive values of PGx tests may be too low to be clinically useful </li></ul><ul><ul><li>Shift public and private resources away from more effective ways of improving public health </li></ul></ul><ul><li>Lack of information about PGx tests may lead to real harms to patients by physicians and payers </li></ul><ul><ul><li>Inaccurate test results </li></ul></ul><ul><ul><li>Poor counseling from physicians (unable to accurately interpret test results) </li></ul></ul><ul><ul><li>Coverage policies that are not justified by the science </li></ul></ul>
  23. 23. When might direct consumer access to PGx testing be permissible? <ul><li>When tests meet appropriate standards of analytic and clinical validity and results are conveyed in an accurate and understandable manner </li></ul><ul><li>When test contains information about response to over-the-counter drugs, dietary regimens, etc </li></ul><ul><li>When individual has insurance coverage for the drug, but not the corresponding PGx test </li></ul><ul><li>When individuals are concerned about stigmatization or discrimination </li></ul><ul><li>DISSENTING OPINION: None of the above. </li></ul>
  24. 24. What Are the Major Policy Issues? <ul><li>Costs, overall, and specialty drugs---constraints on research </li></ul><ul><li>Regulatory reform </li></ul><ul><li>Access and equity concerns </li></ul><ul><li>The uses of genetic information </li></ul><ul><li>Setting levels for regulation and evidence for public payment </li></ul><ul><li>Provider and consumer literacy </li></ul><ul><li>Significant bioethical issues. </li></ul>
  25. 25. What Does it Mean for You? <ul><li>Your experience, however painful, becomes the experience of everybody </li></ul><ul><li>The economics of health care services suppress basic public research $$$’s </li></ul><ul><li>An orphan disease for everyone; managed care must solve the coverage challenge of allocating resources in an era of specialty drugs </li></ul>
  26. 26. PM requires coordination across multiple stakeholders Producers Consumers PGX Diagnostic Companies Government & Universities Biopharmaceutical Co’s Genetics Companies (data miners, technology co’s, etc. Patients and HC consumers Healthcare Professionals Managed Care Payers Ethicists, Legislators
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