Breaking the Code

Information Technology, Information Technology, Genomics, and the Genomics, and the

Journey Toward Journey Toward Personalized MedicinePersonalized Medicine

Personalized Medicine Is

• A Lifetime Medical Record• Coordination of Care • A Personal Genomic Record

My Medical Record

• National Standard Format - Continuity of Care Document

• Human Readable and Computable• http://geekdoctor.blogspot.com/

2008/01/personalized_medicine.html

Implantable RFID TagImplanted Medical Records via RFID

New Personal Health Record Products

• Google• Microsoft• Revolution Health• Dossia• AHIP

2006 2007 Use Cases 2009 and Beyond

Consumer Empowerment

Use Case

· Registration· Medication

History

AHIC Priorities and Use Case Roadmap

Consumer Access to

Clinical Information

· Access to Clinical Data

· Provider Permissions

· PHR Transfer

Medication Management

· Medication Reconciliation

· Ambulatory Prescriptions

· Contra-indications

EHR Use Case

· Laboratory Result Reporting

Emergency Responder

EHR

· On-Site Care· Emergency Care· Definitive Care· Provider

Authentication and Authorization

Remote Consultation

· Structured email

· Reminders· On-line

Consultation

Referrals and Transfer of Care

· Referrals· Problem Lists· Transfer of Care

Personalized Healthcare

· to be developed

2008 Possible Use Cases

CE 3.0 Administrative features CE 3.1 Appointment schedulingCE 3.2 Demographic profileCE 3.3 Editing account profileCE 3.4 Insurance eligibility & claimsCE 3.5 Financial recordkeeping & managementCE 4.0 Reminders (examples)CE 4.1 Annual check-ups CE 4.2 Cancer screening—mammogramsCE 4.3 Cancer screening—colonoscopiesCE 4.4 Immunizations CE 6.0 Summaries of healthcare encountersCE 6.1 Dates of servicesCE 6.3 Procedure codesCE 7.0 Educational informationCE 7.1 Evidence based health information CE 8.0 Decision supportCE 8.1 Shared decision makingCE 8.2 Communications preferencesCE 9.0 Patient health outcomesCE 9.1 Adverse eventsCE 9.2 Medical errorsCE 9.3 Patient reported health outcomesCC 3.0 Glucose monitoringCC 4.0 SpirometeryCC 5.0 AnticoagulationCC 7.0 Fall/motion monitoringCC 11.0 Lesion assessmentCC 12.0 Remote monitoring for chronic conditionsCC 13.0 HIT use in specific populationsCC 15.0 Product and services certificationCC 16.1 State licensure constraintsCC 18.0 Patient identification for authorization and authenticationEHR 5.0 Clinical/encounter notesEHR 6.0 Anatomic pathology resultsEHR 8.0 Radiology reportsEHR 12.0 Machine readable and interoperable EHR 12.1 Encounter notesEHR 12.2 Radiology reportsEHR 12.3 Lab results

Q 3.1 Clinical decision support Q 5.0 Clinical decision supportQ 6.0 Expanded inpatient quality measuresQ 7.0 Expanded ambulatory quality measuresBIO 1.2 Clinical symptomology BIO 1.3 Integration with EHRsBIO 1.4 Health alerting (HA)/email alerts BIO 2.1 Collaborative discussionsBIO 2.2 Web pagesBIO 3.2 ChemoprophylaxisBIO 3.3 TreatmentBIO 3.4 Isolation/quarantineBIO 3.6.2 Disease registryBIO 4.0 Adverse event reportingBIO 4.1 Devices, drugs, biologic BIO 5.0 Nosocomial infectionsBIO 5.1 Medication errorsBIO 5.1.1 Ordering/ prescribing/dispensing BIO 5.1.2 Drug-drug, drug-allergy interaction decision supportBIO 5.1.3 Linkage to FDA structured product labeling database results BIO 10.0 Public health information network (PHIN) can be leveraged BIO 14.0 National notifiable disease conditions have been identifiedAHIC 1.0 Labs, medications, allergies, immunizationsAHIC 2.0 Secure messaging/online consultationAHIC 3.0 Bi-directional communicationsAHIC 4.0 Adverse event reportingAHIC 5.0 Case reporting AHIC 6.0 Clinical decision support systemsAHIC 7.0 Identification/authentication AHIC 8.0 Problem listsAHIC 9.0 Clinical encounter notesAHIC 10.0 Family history/social factorsAHIC 11.0 Vitals signsAHIC 12.0 Population health/conditionsAHIC 13.0 Minimum data setAHIC 14.0 Confidentiality, privacy, & security of patient data

AHIC 15.0 Data access/data controlAHIC 16.0 Data aggregationAHIC 17.0 Infrastructure areas missingAHIC 17.1 Security, network, repositoriesAHIC 18.0 Vital measurementsAHIC19.0 Text documentsAHIC 21.0 Health literacy (multilingual support)AHIC 23.0 Advance directive/living willsAHIC 24.0 Social/family historyAHIC 26.0 Medication historyAHIC 27.0 E-prescribingAHIC 28.0 Standardization of device interfacesAHIC 29.0 Care plans/clinical flowsheetsAHIC 30.0 Provider listAHIC 31.0 Adverse eventsAHIC 32.0 Nosocomial infectionsAHIC 33.0 Clinical data storage for surveillanceAHIC 34.0 Case reporting AHIC 35.0 Bi-directional communicationsAHIC 36.0 Lab resultsAHIC 37.0 Anatomic pathology resultsAHIC 38.0 Radiology reportsAHIC 39.0 Social historyAHIC 40.0 Procedure reportsAHIC 41.0 MedicationsAHIC 43.0 DentalAHIC 44.0 Workflow integrationAHIC 45.0 Int’l public health collaborationAHIC 46.0 Legal liability & regulatory barriersAHIC 47.0 Consumer consentCCHITCCHIT 1.0 Patient safetyCCHIT 2.0 Transfer of careHITSP 1.1.4 Text reportsHITSP 1.1.5 Numeric resultsHITSP 1.1.7 ImagesHITSP 1.2 HIPAA covered entities HITSP 1.2.1 X12 Claims attachment

HITSP 2.0 Secondary uses of dataHITSP 2.1 Clinical researchHITSP 2.2 Clinical trialsHITSP 2.3 Population healthHITSP 3.0 Quality/control measurementsHITSP 3.1 Consistency across usesHITSP 4.0 Clinical device dataHITSP 4.1 GlucometersHITSP 4.2 MonitorsHITSP 4.2 Smart pumpHITSP 5.0 Cross use case work on security (standards)HITSP 5.3 Authentication models to support chain of trust data exchanges

Quality

· Hospital Measurement and Reporting

· Clinician Measurement and Reporting

· Feedback to Clinicians

BiosurveillanceUse Case

· Visit· Utilization· Clinical Data· Lab and

Radiology

Public HealthCase Reporting

· Case Reporting· Bidirectional

Communication· Labs

ResponseManagement

· Resource Identification

· Vaccine· EHR Data

RemoteMonitoring

· Remote Monitoring of Vital Signs and Labs (Glucose)

National Standards for Healthcare Information Exchange

First step – Blood, skin, oral swabs

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500,000 base pairs analysed on an Affymetrix device

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10

Probe Set ID Chromosome Physical Position Strand dbSNP RS IDSNP_A-1780520 20 47874178 + rs16994928SNP_A-1780618 4 104894961 + rs233978SNP_A-1780632 14 51975831 + rs2249922SNP_A-1780654 1 21039991 - rs7553394SNP_A-4192495 16 56554433 + rs17821448SNP_A-4192498 12 2591398 - rs216008SNP_A-1780732 7 102547747 - rs12540583SNP_A-1780848 3 4691811 - rs2306877SNP_A-1780985 18 32432188 + rs3859360SNP_A-1781022 11 77691705 + rs10899467SNP_A-1781076 14 86783793 - rs1682558SNP_A-1781249 22 19338167 + rs635095SNP_A-1781276 4 66428616 + rs7683949SNP_A-1781302 5 53642052 - rs35941SNP_A-1781510 16 76983363 + rs7192626SNP_A-4192564 9 12511826 + rs16929097SNP_A-1781614 5 22436938 - rs16895132SNP_A-1781633 11 5109837 + rs2472530SNP_A-1781764 18 64214239 - rs12327228SNP_A-1781829 16 6722280 + rs4525489SNP_A-1781832 16 6722304 + rs10492838SNP_A-1781982 10 66106365 - rs2438996SNP_A-1782155 9 102132428 + rs10819760SNP_A-1782305 15 20351272 - rs8031642SNP_A-1782891 4 169929466 - rs7680120SNP_A-1782949 10 55075252 - rs17696599SNP_A-4192675 22 20871057 - rs5995616SNP_A-1783398 8 15317330 - rs4831722SNP_A-1783496 11 77954925 - rs10751296

Full Sequencing of 60 million base pairs

DIY

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Shendure, Porreca et al., Science 309: 1729-3220:31

Preparing my Genome for Analysis

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My Genome-Wide Association Studies

• Coronary Artery Disease – Increased Risk

• Diabetes Type 2 – Average Risk• Rheumatoid Arthritis – Average Risk

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The PGP 10 and next steps toward Personalized Medicine

• Standardized medical records• All phenotypic information• 3D photographs• All sequences and interpretations• National Standards for Genome data

sharing and protection• Scale to 100,000 patients

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Summary

• Technologies to sequence the human genome will be available and affordable in 2008

• The standards to securely exchange genomic data will be available in 2008

• The science associating genomes and disease therapy is evolving rapidly. Personalized medicine is here!