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Healthcare Standards? What a Concept!
Tomasz Adamusiak MD PhD
@7omasz
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Tomasz Adamusiak MD PhD
• Chair AMIA Knowledge RepresentaEon and SemanEcs WG
• Past: postdoc at NLM, bioinformaEcian at EBI
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Conflict of interest disclosure
• Pre-‐sales and post-‐sales support for Thomson Reuters Data Fusion
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Learning ObjecEves
• Describe the Meaningful Use requirements and its data standards
• Recognize the value of structured clinical informaEon
• IdenEfy challenges in interoperability of clinical informaEon systems
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$30 880 000 000
Total payments for Medicare and Medicaid Electronic Health Record (EHR) IncenEve Programs (2011 -‐ July 2015)
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h_p://big.assets.huffingtonpost.com/2013_09_HealthCareCosts11.png
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US. health care system is the most expensive and underperforms on most dimensions of performance
AUS CAN FRA GER NETH NZ NOR SWE SWIZ UK US
OVERALL RANKING (2013) 4 10 9 5 5 7 7 3 2 1 11
Quality Care 2 9 8 7 5 4 11 10 3 1 5
Effective Care 4 7 9 6 5 2 11 10 8 1 3
Safe Care 3 10 2 6 7 9 11 5 4 1 7
Coordinated Care 4 8 9 10 5 2 7 11 3 1 6
Patient-Centered Care
5 8 10 7 3 6 11 9 2 1 4
Access 8 9 11 2 4 7 6 4 2 1 9
Cost-Related Problem 9 5 10 4 8 6 3 1 7 1 11
Timeliness of Care 6 11 10 4 2 7 8 9 1 3 5
Efficiency 4 10 8 9 7 3 4 2 6 1 11
Equity 5 9 7 4 8 10 6 1 2 2 11
Healthy Lives
4 8 1 7 5 9 6 2 3 10 11
Health Expenditures/Capita, 2011** $3,800 $4,522 $4,118 $4,495 $5,099 $3,182 $5,669 $3,925 $5,643 $3,405 $8,508
COUNTRY RANKINGS
Top 2*
Middle
Bottom 2*
EXHIBIT ES-1. OVERALL RANKING
Notes: * Includes ties. ** Expenditures shown in $US PPP (purchasing power parity); Australian $ data are from 2010.Source: Calculated by The Commonwealth Fund based on 2011 International Health Policy Survey of Sicker Adults; 2012 International Health Policy Survey of Primary Care Physicians; 2013 International Health Policy Survey; Commonwealth Fund National Scorecard 2011; World Health Organization; and Organization for Economic Cooperation and Development, OECD Health Data, 2013 (Paris: OECD, Nov. 2013).
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2004 à 2009 HITECH/ARRA à 2010 PPACA
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$30 880 000 000
Total payments for Medicare and Medicaid Electronic Health Record (EHR) IncenEve Programs (2011 -‐ July 2015)
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Meaningful Use: it paid to start early
h_p://www.cms.gov/RegulaEons-‐and-‐Guidance/LegislaEon/EHRIncenEvePrograms/Downloads/Beginners_Guide.pdf
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Each stage has its own set of requirements
Final rule, September 4, 2012
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Achieving Meaningful Use CerEficaEon is not straighiorward
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InformaEon exchange is at the heart of Meaningful Use
h_ps://www.cms.gov/RegulaEons-‐and-‐Guidance/LegislaEon/EHRIncenEvePrograms/Downloads/EHR_Medicaid_Guide_Remediated_2012.pdf
Stage 2
Core Measures: 12. Provide paEents with an electronic copy of their health informaEon, upon request 13. Provide clinical summaries for paEents for each office visit 14. Capability to exchange key clinical informa>on
Menu Measure: 8. The EP (…) should provide summary care record for each transiEon of care or referral
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“unstructured document” is explicitly prohibited in transiEon of care
Electronic Access
Clinical Summaries
InformaEon exchange in MU Stage 2
PaEents Referring provider
Receiving provider
Receiving provider
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Blue Bu_on Get It • Find out what kinds of health informaEon are available via
Blue Bu_on and which providers offer it . Check It • Get advice about what to look for in your health record,
and your right to correct it. Use It • Discover what you can do with your health informaEon and
ways to safeguard and protect your health informaEon
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Structured Summary of Care
Problem lists • SNOMED CT
MedicaEons • RxNorm
Laboratory tests • LOINC
Procedures • SNOMED CT • HCPCS + CPT-‐4 • CDT • ICD–10–PCS
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Consolidated CDA provides templates for care summaries
Medication Information ManufacturedProduct
Medication Activity SubstanceAdministration
Medication Supply Order ManufacturedProduct
Immunization SubstanceAdministration
By إإببنن االلببييططاارر own work - [Public domain], via Wikimedia Commons
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Only structured informaEon allowed in MU TransiEon of Care
<manufacturedProduct classCode="MANU"> <templateId root="2.16.840.1.113883.10.20.22.4.23"/> <manufacturedMaterial> <code code="310965" codeSystem="2.16.840.1.113883.6.88" codeSystemName="RxNorm" displayName="Ibuprofen 200 MG Oral Tablet"> </code> </manufacturedMaterial> </manufacturedProduct>
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Only structured informaEon allowed in MU TransiEon of Care
<manufacturedProduct classCode="MANU"> <templateId root="2.16.840.1.113883.10.20.22.4.23"/> <manufacturedMaterial> <code code="310965" codeSystem="2.16.840.1.113883.6.88" codeSystemName="RxNorm" displayName="Ibuprofen 200 MG Oral Tablet"> </code> </manufacturedMaterial> </manufacturedProduct>
MedicaEon InformaEon Template
RXCUI
Normalized Drug Name
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Fast Healthcare Interoperability Resources
• Aims to simplify implementaEon without sacrificing informaEon integrity
• Derived from HL7 RIM and other important content models
• Intended to address the most common (80%) interoperability needs of implementers
• Because v3 is hard
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Medical expert systems date back to the 1970s
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Knowledge acquisiEon bo_leneck
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Computer-‐Assisted Diagnosis à Clinical Decision Support
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CDS is difficult because computers do not understand text very well
HISTORY OF PRESENT INQUIRY: Mr. Smith is a 34-‐year old gentleman who presents at our branch to obtain a car loan secondary to growing maintenance costs of his current vehicle. He otherwise reports doing well. His past financial history is insignificant.
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{vitamin supplements, loEon, hand saniEzers} à
{baby-‐related products}
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Target isn't just predicEng pregnancies: expect more savvy data-‐mining tricks (Hill, K. 2012, February 24)
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Mining associaEons in Electronic Health Records
Diabetes mellitus
Yes No
Glucohemoglobin measurement
Yes 1509 5442
No 881 99
PosiEve associaEon
Background reference
EHR-‐based phenome wide associaEon study in pancreaEc cancer. Adamusiak T, Shimoyama M, AMIA Jt Summits Transl Sci Proc. 2014 Apr 7;2014:9-‐15
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Expansion + associaEon
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CPT-‐4 83036
ICD10 E08-‐E13
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What is in a paEent EHR?
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0% 10% 20% 30% 40% 50% 60% 70%
Other
Labs
MedicaEons
Procedures
Problems
Concepts (7k) ObservaEons (2M)
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Hierarchical expansion: all DVT terms in ICD-‐10-‐CM
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Child Concepts
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Caveat: flat hierarchy results in disconnected clinical contexts
Find paEents with tuberculosis? • 010-‐018.99 TUBERCULOSIS • 137 Late effects of tuberculosis • 647.3 Tuberculosis complicaEng pregnancy childbirth or the puerperium
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More difficult in SNOMED CT
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MulEple inheritance
Child Concepts
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Gap between clinical and billing terminology standards
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In pursuit of a single language
Pieter Brueghel the Elder (1526/1530–1569) [Public domain], via Wikimedia Commons
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IntegraEng terminologies with Unified Medical Language System
Donald A.B. Lindberg, M.D
Clinical Terminologies
UMLS
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UMLS
Exanthema C0015230
SNOMED CT
ICD-‐10-‐CM
UMLS establishes equivalence mappings across biomedical terminologies
SNOMED CT
rash NOSICD-10:R21
Cutaneous eruptionSCT:112625008
EruptionSCT:1806006
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UMLS
Exanthema C0015230
SNOMED CT
ICD-‐10-‐CM
UMLS establishes equivalence mappings across biomedical terminologies
SNOMED CT
Cutaneous eruptionSCT:112625008
rash NOSICD-10:R21Eruption
SCT:1806006
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Expansion in UMLS across MU sources
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Diabetes mellitus without menEon of complicaEon, type II or unspecified type, not stated as uncontrolled
ICD-‐9
ICD-‐10
SNOMED CT
NDF-‐RT
SituaEon with explicit context
Metabolic diseases
roots:
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Ontological six degrees of Kevin Bacon
Acute myocardial infarcEon
Myocardial ischemia
Vascular Diseases
Disorder of so� Essue
Collagen Diseases
ConnecEve Tissue Diseases
Epidermal and dermal condiEons
Skin and subcutaneous Essue disorders
Dermatologic disorders
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Open issue: reconciling lab orders with results
Clinical Laboratory
Hemoglobin A1c/�Hemoglobin
.total in Blood by HPLC LOINC:17856-‐6
Hemoglobin; glycosylated (A1C)
CPT-‐4:83036
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ExtracEng geneEc informaEon out of EHR is a major challenge
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• PLEASE INFORM **NAME[ZZZ] OF MTHFR MUTATION.
• WE WILL NEED ADDITIONAL TESTING: FOR NOW, FOLATE, SAME, MTHFR.
• MARGINAL PLACENTA PREVIA MTHFR MUTATION, HETERO X 2 C677T AND A1298C
• UTI COMPLICATING PREGNANCY HOMOZYGOUS FOR C677T POLYMORPHISM OF MTHFR 1 COPY OF MTHFR MUTATION A1298C DETECTED
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LOINC is complex
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1 result
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LOINC is an ideal candidate for DL because of its composiEonal structure
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Part Type Part Name Component Crea>nine Property MCnc Time Pt System Ser/Plas Scale Qn
2160-‐0 CreaEnine [Mass/�volume] in Serum or Plasma
(has_component some Crea>nine) and (has_property some MCnc) and (has_5me_aspect some Pt ) and (has_system some Ser/Plas) and (has_scale some Qn)
Code:
Parts:
DL defini>on:
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Used SNOMED CT to enrich LOINC hierarchy
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Urine
78014005
Body fluid 32457005
Body Fluids C0005889
Urine C0042036
owl:EquivalentTo
owl:EquivalentTo
ISA
Body fluid LP30504-‐2
Urine LP7681-‐2
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MulEaxial Inferred
OBS Glucose
OBS Glucose| Urine
Separated codes and parts and defined corresponding observaEons
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Protein & Glucose panel in Urine by
Test strip
Glucose
Glucose | Urine Urine
≡
≡
Glucose in 10 hour Urine
Glucose in Urine by Test
strip
≡
≡
≡
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1. Created logical definiEons 2. Classified the ontology with a reasoner
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OBS Glucose | Urine
≡
Glucose in 10 hour Urine
≡ has_component some Glucose and has_property some Arbitrary Concentra5on and has_Eme_aspect some Point in 5me (spot) and has_system some Urine and has_scale some Ord and has_method some Test strip
has_component some Glucose and has_system some Urine DL definiEon
DL definiEon
Inferred
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Query expansion with subsumpEon reasoning
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DL: 189 results
Sugars /sugar
metabolism
Carbohydrates
Carbohydrates | Urine
16550-‐6
Glucose
Glucose | Urine
2350-‐7
Carbohydrates
Carbohydrates | Urine
Glucose | Urine
2350-‐7
Fructose | Urine 16550-‐6
1 result
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9 006 conc
epts
693 256 co
nnecEons
Quality assurance in LOINC using descripEon logic PMID:23304386
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SNOMED CT as possible universal language of healthcare
• Updated Technology Preview of the LOINC-‐SNOMED CT CooperaEve Project – September 2015 15k LOINC – SNOMED CT expressions h_p://www.nlm.nih.gov/research/umls/licensedcontent/snomedciiles.html
• Integration with ICD-11 h_p://www.ncbi.nlm.nih.gov/pubmed/23920573
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COST?
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$1.3 trillion
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Thank You