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Personalized Healthcare

Personalized Healthcare. Using genetics and family history to enhance targeted diagnosis and treatment. Date: February 12, 2009 | 2:00 – 3:30 pm (Eastern) Presenters: Allen Hobbs, Ph.D., Stephen Hufnagel, Ph.D., Keith Boone and Michael Glickman. Learning Objectives.

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Personalized Healthcare

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  1. Personalized Healthcare Using genetics and family history to enhance targeted diagnosis and treatment Date: February 12, 2009 | 2:00 – 3:30 pm (Eastern) Presenters: Allen Hobbs, Ph.D., Stephen Hufnagel, Ph.D.,Keith Boone and Michael Glickman

  2. Learning Objectives • Explore the concept of personalized healthcare • genetics and family history information can provide more targeted diagnosis and therapy • Examine the initiation of personalized healthcare • “Genomics and Personalized Medicine Act of 2006” introduced to the Senate by Barack Obama • Personalized Healthcare Use Case by the American Health Information Community • Discover how the requirements of the Personalized Healthcare Use Case map to HITSP constructs • Learn how family and genetic history are communicated between healthcare IT systems, and how this information can support genetic risk assessment

  3. Agenda • What is HITSP • What is Personalized Healthcare? • Personalized Healthcare Scenarios: (1) Clinical Assessment (2) Genetic Testing, Reporting and Clinical Management • Data Requirements and Constructs: Genetic Data, Personal and Family History, Risk Analysis and Decision Support • Next Steps • Conclusion • Questions and Answers

  4. What is HITSP?

  5. HITSP is a volunteer-driven, consensus-based organization that is funded through a contract from the Department of Health and Human Services The Panel brings together experts from across the healthcare community from consumers to doctors, nurses, and hospitals; from those who develop healthcare IT products to those who use them; and from thegovernment agencies who monitor the U.S. healthcare system to those organizations that are actually writing healthcare IT standards. Overview

  6. Roles and Responsibilities Harmonizes and recommends the technical standards that are necessary to assure the interoperability of electronic health records Creates HITSP-recommended Interoperability Specifications (IS) that specify how and what standards should be used for a particular Use Case/Value Case Supports deployment and implementation of these IS Works with Standards Development Organizations (SDOs) to identify gaps and maintain, revise or develop new standards as required to support the IS

  7. Each HITSP Interoperability Specification defines a set of “constructs” that: specify how to integrate and constrain selected standards to meet the business needs of a Use/Value Case; and define a Roadmap to use emerging standards and to harmonize overlapping standards when resolved. In essence, a HITSP IS represents a suite of documents that integrate and constrain existing standards to satisfy a Use Case Personalized Healthcare Interoperability Specification (IS08) Deliverables and Mode of Operation

  8. What is Personalized Healthcare? Personalized healthcare enables providers to customize treatment and management plans for individuals based on their unique genetic makeup Personalized healthcare focuses on the exchange of genomic/genetic test information, family medical history and the use of analytical tools in the EHR to support clinical decision-making

  9. Steve’s story . . . current situation Patient is a 27-year-old man who had a brain tumor removed as a child • I’m worried that without a complete personal and family medical history on file, my doctors will miss seeing a trend in my progress • My grandfather struggles with diabetes and my grandmother died from her thyroid condition • My doctor said that genetic/genomic test information may uncover disease predisposition, and can help determine which medication would be more effective • I support the availability of genetic information, but I’m concerned that my personal data is shared in a safe, secure way

  10. Steve’s story . . . future • Steve’s health information can be seamlessly and securely exchanged between and among diverse systems • The seamless and secure exchange of information will allow Steve to: • create a personal health record to access his personal health information and grant access to his various providers • exchange clinically useful genetic/genomic test information • exchange personal and family health history • access results, conditions, allergies, and diagnosis codes in layperson terms • Steve’s provider can access analytical tools and electronic health records (EHRs) to support clinical decision-making

  11. Background and Introduction to the Personalized Health Care (PHC) Use Case A Clear, Highly Visible and Compelling Use Case • Michael O. Leavitt, Secretary of the Department of Health and Human Servicesstated at the American Health Information Community (AHIC) meeting on September 12, 2006: …genomics will play an increasingly larger role in medicine, and now is the time to figure out how best to incorporate genetic information into e-health records, before multiple nonstandard approaches take hold.”

  12. Background and Introduction to the Personalized Health Care (PHC) Use Case 109th Congress • Genomics and Personalized Medicine Act of 2006Introduced by Senator Obama to improve access to and appropriate utilization of valid reliable and accurate molecular genetic tests 110th Congress • Genetic Information Nondiscrimination Act of 2008Prohibits discrimination on the basis of genetic information with respect to health insurance and employment

  13. Today – Prior to Personalized Healthcare Visit your Doctor with Illness Symptom-based Diagnosis (In-vitro Diagnostics, Anatomical Imaging) Broad Based Populations Generic Treatment, Cost-centric Recover or Revisit

  14. Tomorrow – The Vision of Personalized Healthcare Diagnostic systems and genetic information are integrated 1 2 Treatment(s) become targeted 3 Optimal treatment of disease is individualized 4 Standards of care become patient centric

  15. Tomorrow – A Framework for Personalized Healthcare Personalized Health Care Integration into Clinical Practice Intervention Development + Review Health Information Technology Expansion of the Science Base Standards of care become patient centric in EHR/PHR Demonstrate evidence-based medicine to assure approaches work for patients and providers Identifying regulatory structure (e.g. FDA) supporting adoption of targeted drugs and diagnostics Aggregating biomedical knowledge and adoption of interoperable HIT as a supportive foundation Adapted from DHHS: “PHC, Opportunities, Pathways, Resources” 2007

  16. HITSP IS 08: Personalized Healthcare The Personalized Healthcare Interoperability Specification focuses on the exchange of clinically useful genetic/genomic test information, personal and family health history, and the use of analytical tools in electronic health records (EHRs) to support clinical decision-making. Enabling clinical decisions and therapies to be more targeted to the individual, their genetics, and personal/family history

  17. Scenario One: Clinical Assessment The Clinician’s Perspective(physicians and other clinicians that conduct clinical assessment, clinical management and evaluation activities) gathering of a patient’s personal and family history information diagnostic planning genetic/genomic test ordering result interpretation The Consumer Perspective(patients, caregivers, patient advocates, family members, etc) reports family health information requests genetic/genomic tests and results

  18. My Family Health Portraita tool from the U.S. Surgeon General

  19. Scenario Two: Testing, Reporting and Clinical Management The Testing Laboratory Perspective performs the tests, analyzes the test data using genetic/genomic databases and repositories, and interprets the data considers other personal and family health information by performing a risk assessment develops a patient report including fully structured results (and interpretation) transmits the report back to the authorized providers The Clinician Perspective determines appropriate preventive action, treatment protocol, messaging, and clinical interpretation of test results using decision support tools

  20. Requirements Mapping to HITSP Constructs Information Exchange Requirements

  21. Requirements Mapping to HITSP Constructs Data Requirements

  22. See HITSP website for more detail For detailed list of the following, download this PowerPoint from http://www.hitsp.org/archived_webinars_09.aspx • Requirements Mapping to HITSP Constructs • IERs and DRS Mapped to HITSP Constructs • Use Case Requirements and Associated Standards Gaps

  23. Data Sets for Personalized Medicine • Demographic Data • Name, Identifiers, Age, Gender, Race, Ethnicity • Personal Medical History • Disorders, Age of Onset, Environmental Exposures, Treatments, Social History • Personal Genetic Data • Genetic Test Results, Genetic Status, Risk Analysis • Family Medical History • Pedigree, Disorders, Age of Onset/Death/Cause of Death • Family Genetic Data • Genetic Test Results, Genetic Status, Risk Analysis

  24. Genetic Data • Reason for the Test • Genetic Condition Status/Risk/Carrier • Medication Effectiveness/Metabolization/Toxicity • Type of Specimen • Germline – Containing genes you were born with • Somatic – Containing genes mutated after birth • Prenatal – Containing genes of a fetus • Genetic Region of Interest • Gene Name – Human Genome Name Committee (HGNC) • Genetic Variant – Human Genome Variation Society (HGVS) • Interpretations

  25. HITSP Constructs C28 – Emergency Care Summary Document C32 – Summary Documents Using CCD * C48 – Encounter Document C84 – Consult and History and Physical Note C83 – CDA Content Modules * C80 – Clinical Document and Message Vocabulary * TP13 – Manage Sharing of Documents T31 – Document Reliable Interchange T33 – Transfer of Documents on Media C90 – Clinical Genomic Decision Support * T81 – Retrieval of Medical Knowledge * * Key constructs for IS 08

  26. HITSP Security and Privacy Constructs Safeguard Exchange of Personalized Healthcare Info • T17 – Secured Communication Channel • TP13 – Manage Sharing of Documents • TP20 – Access Control • TP30 – Manage Consent Directive • C19 – Entity Identity Assertion • C26 – Non-repudiation of Origin • T15 – Security Audit Trail • T16 – Consistent Time For more information about how HITSP addresses security and privacy, refer to the August 2008 Security and Privacy Webinar at http://www.hitsp.org/archived_webinars.aspx

  27. Information Flows Provider EHR ClinicalKnowledge Banks Patient CentricKnowledge Banks Personal, Family and Genetic History Personal, Family and Genetic History Patient PHR Provider EHR Personal, Family and Genetic History Lab Results LabInformationSystem Personal, Family and Genetic History and Lab Results Family and Genetic History Genetic Risk Analysis Family Member PHR EHR = Electronic Health Record PHR = Personal Health Record

  28. Where they are used Provider EHR ClinicalKnowledge Banks Patient CentricKnowledge Banks Medical KnowledgeT81 Personal, Family and Genetic HistoryC28/C32/C48/C84C83/C80TP13/T31/T33 Medical KnowledgeT81 Patient PHR Provider EHR Lab ResultsT14/C35/C36TP13/T31/T33/C35/C37 C28/C32/C48/C84C83/C80TP13/T31/T33 AndT14/C35/C36C35/C37 LabInformationSystem Family and Genetic HistoryC32C83/C80TP13/T31/T33 Personal, Family and Genetic History and Lab Results Genetic Risk Analysis Family Member PHR EHR = Electronic Health Record PHR = Personal Health Record

  29. Next Steps: Where we are with IS 08

  30. Future Enhancements • HITSP harmonization of: • Genomic lab orders and results • Genetic risk assessments

  31. Understanding Genetics http://motorcycleguy.blogspot.com/2008/07/understanding-genetics.html Reporting Genetic Test Results http://motorcycleguy.blogspot.com/2008/07/reporting-genetic-test-results.html HL7 Clinical Document Architecture http://www.hl7.org/Library/standards_non1.htm#CDA (Nonmembers) http://www.hl7.org/Library/standards_mem1.cfm#CDA (Members only) IHE Patient Care Coordination Technical Framework http://wiki.ihe.net/index.php?title=Family_History_Organizer Human Genome Variation Society http://www.hgvs.org/ Human Gene Nomenclature Committee http://www.genenames.org/ Sample References

  32. IS08 – Personalized MedicineBenefits of Implementation . . . IS08 enables an integrated approach to personalized medicine that: supports and offers interoperability for information exchange among consumers, providers, and researchers; enables an evidence-based approach to personalized medicine; and minimizes the negative effects of less targeted treatment.

  33. Steve’s story . . . accomplished • Steve’s health information can be seamlessly and securely exchanged between and among diverse systems • The seamless and secure exchange of information will allow Steve to: • create a personal health record to access his personal health information and grant access to his various providers • exchange clinically useful genetic/genomic test information • exchange personal and family health history • access results, conditions, allergies, and diagnosis codes in layperson terms • Steve’s provider can access analytical tools and electronic health records (EHRs) to support clinical decision-making

  34. The 2009 Webinar Series www.HITSP.org/webinars  

  35. Use or specify HITSP Interoperability Specifications in your HIT efforts and in your Requests for Proposals (RFPs) Ask for CCHIT certification Leverage Health Information Exchanges to promote HITSP specifications to make connections easier in the future Ask . . . Is there a HITSP standard we could be using? Get involved in HITSP . . . Help shape the standards How YOU can become involved

  36. Join HITSP in developing a safe and secure health information network for the United States. Visit www.hitsp.orgor contact . . . Michelle Deane, ANSI mmaasdeane@ansi.org Re: HITSP, its Board and Coordinating Committees Jessica Kant, HIMSS Theresa Wisdom, HIMSS jkant@himss.orgtwisdom@himss.org Re: HITSP Technical Committees

  37. Sponsor Strategic Partners www.HITSP.org

  38. Personalized Healthcare Questions and Answers

  39. Appendix Requirements Mapping to HITSP Constructs IERs and DRS Mapped to HITSP Constructs Use Case Requirements and Associated Standards Gaps

  40. Requirements Mapping to HITSP Constructs Information Exchange Requirements

  41. Requirements Mapping to HITSP Constructs Data Requirements

  42. Scenario 1: Clinical Assessment Component Data Flow Diagram

  43. Scenario 2: Testing, Reporting and Clinical Management Component Data Flow Diagram

  44. Requirements Mapping to HITSP Constructs Constructs Used

  45. Requirements Mapping to HITSP Constructs Constructs Used

  46. Requirements Mapping to HITSP Constructs Constructs Used

  47. IERs and DRS mapped to HITSP Constructs Info Exchange Requirement Data Requirement HITSP Construct

  48. IERs and DRS mapped to HITSP Constructs Underlying Infrastructure Constructs are NOT shown (e.g., T15, T16, T17, C19, TP20, TP30)

  49. IERs and DRS mapped to HITSP Constructs Underlying Infrastructure Constructs are NOT shown (e.g., T15, T16, T17, C19, TP20, TP30)

  50. IERs and DRS mapped to HITSP Constructs Underlying Infrastructure Constructs are NOT shown (e.g., T15, T16, T17, C19, TP20, TP30)

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