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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

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

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


Agenda

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


What is hitsp

What is HITSP?


Overview

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


Roles and responsibilities

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


Personalized healthcare

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


What is personalized healthcare

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


Personalized healthcare

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


Personalized healthcare

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


Background and introduction to the personalized health care phc use case

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.”


Background and introduction to the personalized health care phc use case1

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


Today prior to personalized healthcare

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


Tomorrow the vision of personalized healthcare

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


Tomorrow a framework for personalized healthcare

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


Hitsp is 08 personalized healthcare

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


Scenario one clinical assessment

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


Personalized healthcare

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


Scenario two testing reporting and clinical management

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


Requirements mapping to hitsp constructs information exchange requirements

Requirements Mapping to HITSP Constructs Information Exchange Requirements


Personalized healthcare

Requirements Mapping to HITSP Constructs Data Requirements


See hitsp website for more detail

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


Data sets for personalized medicine

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


Genetic data

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


Hitsp constructs

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


Hitsp security and privacy constructs safeguard exchange of personalized healthcare info

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


Personalized healthcare

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


Where they are used

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


Next steps where we are with is 08

Next Steps: Where we are with IS 08


Future enhancements

Future Enhancements

  • HITSP harmonization of:

    • Genomic lab orders and results

    • Genetic risk assessments


Sample references

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


Is08 personalized medicine benefits of implementation

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.


Personalized healthcare

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


Personalized healthcare

The 2009 Webinar Series

www.HITSP.org/webinars


How you can become involved

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


Join hitsp in developing a safe and secure health information network for the united states

Join HITSP in developing a safe and secure health information network for the United States.

Visit www.hitsp.orgor contact . . .

Michelle Deane, ANSI

[email protected]

Re: HITSP, its Board and Coordinating Committees

Jessica Kant, HIMSSTheresa Wisdom, HIMSS

[email protected]@himss.org

Re: HITSP Technical Committees


Personalized healthcare

Sponsor

Strategic Partners

www.HITSP.org


Personalized healthcare

Personalized Healthcare

Questions and Answers


Appendix

Appendix

Requirements Mapping to HITSP Constructs

IERs and DRS Mapped to HITSP Constructs

Use Case Requirements and Associated Standards Gaps


Requirements mapping to hitsp constructs information exchange requirements1

Requirements Mapping to HITSP Constructs Information Exchange Requirements


Personalized healthcare

Requirements Mapping to HITSP Constructs Data Requirements


Scenario 1 clinical assessment component data flow diagram

Scenario 1: Clinical Assessment Component Data Flow Diagram


Scenario 2 testing reporting and clinical management component data flow diagram

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


Requirements mapping to hitsp constructs constructs used

Requirements Mapping to HITSP Constructs Constructs Used


Personalized healthcare

Requirements Mapping to HITSP Constructs Constructs Used


Personalized healthcare

Requirements Mapping to HITSP Constructs Constructs Used


Iers and drs mapped to hitsp constructs

IERs and DRS mapped to HITSP Constructs

Info Exchange

Requirement

Data Requirement

HITSP Construct


Iers and drs mapped to hitsp constructs1

IERs and DRS mapped to HITSP Constructs

Underlying Infrastructure Constructs are NOT shown (e.g., T15, T16, T17, C19, TP20, TP30)


Iers and drs mapped to hitsp constructs2

IERs and DRS mapped to HITSP Constructs

Underlying Infrastructure Constructs are NOT shown (e.g., T15, T16, T17, C19, TP20, TP30)


Iers and drs mapped to hitsp constructs3

IERs and DRS mapped to HITSP Constructs

Underlying Infrastructure Constructs are NOT shown (e.g., T15, T16, T17, C19, TP20, TP30)


Iers and drs mapped to hitsp constructs4

IERs and DRS mapped to HITSP Constructs

Underlying Infrastructure Constructs are NOT shown (e.g., T15, T16, T17, C19, TP20, TP30)


Iers and drs mapped to hitsp constructs5

IERs and DRS mapped to HITSP Constructs

Underlying Infrastructure Constructs are NOT shown (e.g., T15, T16, T17, C19, TP20, TP30)


Iers and drs mapped to hitsp constructs6

IERs and DRS mapped to HITSP Constructs

Underlying Infrastructure Constructs are NOT shown (e.g., T15, T16, T17, C19, TP20, TP30)


Iers and drs mapped to hitsp constructs7

IERs and DRS mapped to HITSP Constructs

Underlying Infrastructure Constructs are NOT shown (e.g., T15, T16, T17, C19, TP20, TP30)


Iers and drs mapped to hitsp constructs8

IERs and DRS mapped to HITSP Constructs

Underlying Infrastructure Constructs are NOT shown (e.g., T15, T16, T17, C19, TP20, TP30)


Iers and drs mapped to hitsp constructs9

IERs and DRS mapped to HITSP Constructs

Underlying Infrastructure Constructs are NOT shown (e.g., T15, T16, T17, C19, TP20, TP30)


Use case requirements and associated standards gaps

Use Case Requirements and Associated Standards Gaps


Use case requirements and associated standards gaps1

Use Case Requirements and Associated Standards Gaps


Use case requirements and associated standards gaps2

Use Case Requirements and Associated Standards Gaps


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