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Automating the formalization of clinical
guidelines using information extraction:
an overview of recent lexical approaches

05 August 2011

Phil Gooch
Centre for Health Informatics
City University, London UK
Clinical guidelines

• Contain recommendations for best practice based on systematic
 reviews of clinical evidence, consensus statements and expert opinion.
• Goal is to reduce variation in medical care by promoting the most
 effective treatments, and to provide a means of quality control in clinical
 practice via audit
• Produced by a variety of organizations (e.g. NICE, RCP, SIGN) in a
 variety of document formats usually not conducive to use at the point of
 care.
Clinical decision support (CDS)

•   Aims to provide diagnostic and treatment recommendations and
    advice at the point of care, i.e. information tailored for the specific
    patient under consideration by the clinician during a consultation
•   CDS systems require a knowledge base (KB), usually derived from
    guidelines, consisting of declarative knowledge (penicillin is-a
    antibiotic) and procedural (if…then) rules, and some sort of electronic
    patient record system (EPR)
Computer-interpretable guidelines

•   Early systems ‘computerized’ guidelines by making them available ‘on
    the computer’, e.g. as HTML or PDF
     • Did not lead to improved guideline compliance or use!
•   To standardize the format of the knowledge-base, ease development
    of CDS, and to improve guideline use at the point of care, a number of
    formalisms for representing guidelines have been developed
Computer-interpretable guidelines (CIGs)

Rule-based: ‘if ... then’, e.g. Arden Syntax for individual clinical decisions
   LET Last_HgA1C BE READ LATEST {"HgA1C Value"};
   LET Diabetic_Patient BE READ LATEST {"Problem: Diabetes"};
   if Diabetic_Patient and Last_HgA1C Occurred not within past 6 months and Last_HgA1C is less
      than or equal 7
   then conclude true;

Document based, e.g. GEM, for complete guideline documents in XML
OO expression query languages e.g. GELLO:
 observation.code == ‘SBP’ AND observation.value > 140 AND assessment.code ==‘LVF’

Task-network models (TNM), e.g. GLIF, Asbru, PROforma, for workflow-like
 modelling of decisions over time
Formalization of guidelines into a CIG model

•     Declarative: Mapping clinical concepts in the guideline to terms within a
      controlled vocabulary (e.g. UMLS) or ‘virtual medical record’
•     Procedural: Identification and extraction of eligibility criteria, clinical
      actions (tests, treatment regimes, referrals), temporal constraints and
      if…then decision rules
•     Translation to a formal model, e.g. PROforma, GLIF, Asbru
•     Time-consuming, iterative, manual process as the guideline text tends to
      assume background knowledge, is incomplete or contains ambiguity and
      vague terms
Example CIG fragment (Asbru)

<plan name="Doxycycline : 100 mg orally twice a day for 7 days"
   plan_id="plan52769441">
      <cyclical_plan plan_id="plan5675512">
        <frequency value="12" unit="hour"/>
      </cyclical_plan>
      <duration>
        <min value="7" unit="day"/>
        <max value="7" unit="day"/>
      </duration>
   </plan>
Examples of vague guideline statements

Underspecification:
• Avoid the use of highly intensive management strategies to achieve
  an HbA1c level less than 6.5% (48 mmol/mol)

•   Monitor HbA1c every 2–6 months (according to individual need) until it
    is stable on unchanging treatment

Qualitative terms requiring mapping to numeric values or ranges:
• The moderate use of alcohol may increase HDL-cholesterol

•   If blood pressure remains uncontrolled on adequate doses of three
    drugs, consider adding a fourth and/or seeking expert advice
Information extraction for guideline formalization

• Helpful to automate
    • Knowledge base construction: text to formal model translation
    • Identification of opportunities for decision support: mapping
      guideline concepts and rules to concepts in the EPR
    • Measurement of guideline compliance
Information extraction approaches

•   Bottom-up: identification of individual clinical terms, temporal
    expressions, units of measure
     • Look-up lists, regular expressions
     • Shallow parsing to identify noun phrases
     • Terminology services: UMLS, MetaMap
     • Co-reference resolution: WordNet

•   Top-down: identification of guideline structure: preamble, eligibility,
    recommendations, ‘action’ sentences and rules
     • Shallow parsing to identify verb phrases
     • Ontologies for semantic relations, e.g. UMLS Semantic Network
     • Use of linguistic guideline patterns (see later)
Mapping text to UMLS concepts - problems

• Identification of clinical terms is dependent on context:
- family history of congestive heart failure
- probable diagnosis of congestive heart failure
- no evidence of congestive heart failure
- patient does not have established cardiovascular disease


• Clearly just identifying the raw concepts congestive heart failure and
 cardiovascular disease and mapping them to UMLS terms is
 inadequate.
Mapping guideline text to UMLS concepts - problems

• Guideline documents are typically large (100 pages), in PDF or XML
 format
• Requires guideline text to be segmented to enable efficient processing
- How best to segment the text that maximizes contextual clinical concept
 identification?
Solutions: Text segmentation
• Customised phrase chunker to identify candidate terms:
 - Noun phrases (NP), prepositional phrases (PP), verb phrases (VP)
 - Neoclassical combining forms phrases (Token groups containing
   Latin/Greek prefixes, roots, suffixes)
 - Past-participle and gerund NPs:
   - 'results in increased blood pressure', 'fasting blood glucose'
 - List expansion:
   - 'mild, moderate and severe hypertension → mild hypertension,
      moderate hypertension and severe hypertension'
   - 'lowering of heart rate and blood pressure → lowering of heart
      rate and lowering of blood pressure'
 - Abbreviation expansion: 'waist circumference (WC)'
Solutions: GATE-MetaMap Server integration plugin

- Extracts clinical concepts, in context, from large guideline texts in
 multiple formats and encodings (PDF, XML, RTF, ASCII, UTF-8)
- Exchanges data/annotations with a MetaMap server
- Implements Unicode Normalization Forms for UTF-8 → ASCII
- Provides flexible text chunking options
- Optimises input data to MetaMap for mapping to UMLS concepts
- Integrates with other information extraction pipelines
GATE-MetaMap integration module
Guideline patterns

Serban et al. (2007), examples:

(med_context, target_group, recommendation_operator, med_action)

In the event of [pregnancy]med_context, [patients with diabetes]target_group
   [should]recommendation_op be[prescribed calcium channel blocker]med_action


(target_group, med_context, med_goal)

For [diabetic patients]target_group with [kidney damage]med_context the [blood
   pressure target is130/80]med_goal
Extracting guideline recommendations
Extracting guideline recommendations


… and rules from guideline text
Information extraction from patient data
Patient data: automatic spelling correction
Patient data: automatic spelling correction
Patient data: WordNet mappings for coreferencing

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Automating the formalization of clinical guidelines using information extraction

  • 1. Automating the formalization of clinical guidelines using information extraction: an overview of recent lexical approaches 05 August 2011 Phil Gooch Centre for Health Informatics City University, London UK
  • 2. Clinical guidelines • Contain recommendations for best practice based on systematic reviews of clinical evidence, consensus statements and expert opinion. • Goal is to reduce variation in medical care by promoting the most effective treatments, and to provide a means of quality control in clinical practice via audit • Produced by a variety of organizations (e.g. NICE, RCP, SIGN) in a variety of document formats usually not conducive to use at the point of care.
  • 3. Clinical decision support (CDS) • Aims to provide diagnostic and treatment recommendations and advice at the point of care, i.e. information tailored for the specific patient under consideration by the clinician during a consultation • CDS systems require a knowledge base (KB), usually derived from guidelines, consisting of declarative knowledge (penicillin is-a antibiotic) and procedural (if…then) rules, and some sort of electronic patient record system (EPR)
  • 4. Computer-interpretable guidelines • Early systems ‘computerized’ guidelines by making them available ‘on the computer’, e.g. as HTML or PDF • Did not lead to improved guideline compliance or use! • To standardize the format of the knowledge-base, ease development of CDS, and to improve guideline use at the point of care, a number of formalisms for representing guidelines have been developed
  • 5. Computer-interpretable guidelines (CIGs) Rule-based: ‘if ... then’, e.g. Arden Syntax for individual clinical decisions LET Last_HgA1C BE READ LATEST {"HgA1C Value"}; LET Diabetic_Patient BE READ LATEST {"Problem: Diabetes"}; if Diabetic_Patient and Last_HgA1C Occurred not within past 6 months and Last_HgA1C is less than or equal 7 then conclude true; Document based, e.g. GEM, for complete guideline documents in XML OO expression query languages e.g. GELLO: observation.code == ‘SBP’ AND observation.value > 140 AND assessment.code ==‘LVF’ Task-network models (TNM), e.g. GLIF, Asbru, PROforma, for workflow-like modelling of decisions over time
  • 6. Formalization of guidelines into a CIG model • Declarative: Mapping clinical concepts in the guideline to terms within a controlled vocabulary (e.g. UMLS) or ‘virtual medical record’ • Procedural: Identification and extraction of eligibility criteria, clinical actions (tests, treatment regimes, referrals), temporal constraints and if…then decision rules • Translation to a formal model, e.g. PROforma, GLIF, Asbru • Time-consuming, iterative, manual process as the guideline text tends to assume background knowledge, is incomplete or contains ambiguity and vague terms
  • 7. Example CIG fragment (Asbru) <plan name="Doxycycline : 100 mg orally twice a day for 7 days" plan_id="plan52769441"> <cyclical_plan plan_id="plan5675512"> <frequency value="12" unit="hour"/> </cyclical_plan> <duration> <min value="7" unit="day"/> <max value="7" unit="day"/> </duration> </plan>
  • 8. Examples of vague guideline statements Underspecification: • Avoid the use of highly intensive management strategies to achieve an HbA1c level less than 6.5% (48 mmol/mol) • Monitor HbA1c every 2–6 months (according to individual need) until it is stable on unchanging treatment Qualitative terms requiring mapping to numeric values or ranges: • The moderate use of alcohol may increase HDL-cholesterol • If blood pressure remains uncontrolled on adequate doses of three drugs, consider adding a fourth and/or seeking expert advice
  • 9. Information extraction for guideline formalization • Helpful to automate • Knowledge base construction: text to formal model translation • Identification of opportunities for decision support: mapping guideline concepts and rules to concepts in the EPR • Measurement of guideline compliance
  • 10. Information extraction approaches • Bottom-up: identification of individual clinical terms, temporal expressions, units of measure • Look-up lists, regular expressions • Shallow parsing to identify noun phrases • Terminology services: UMLS, MetaMap • Co-reference resolution: WordNet • Top-down: identification of guideline structure: preamble, eligibility, recommendations, ‘action’ sentences and rules • Shallow parsing to identify verb phrases • Ontologies for semantic relations, e.g. UMLS Semantic Network • Use of linguistic guideline patterns (see later)
  • 11. Mapping text to UMLS concepts - problems • Identification of clinical terms is dependent on context: - family history of congestive heart failure - probable diagnosis of congestive heart failure - no evidence of congestive heart failure - patient does not have established cardiovascular disease • Clearly just identifying the raw concepts congestive heart failure and cardiovascular disease and mapping them to UMLS terms is inadequate.
  • 12. Mapping guideline text to UMLS concepts - problems • Guideline documents are typically large (100 pages), in PDF or XML format • Requires guideline text to be segmented to enable efficient processing - How best to segment the text that maximizes contextual clinical concept identification?
  • 13. Solutions: Text segmentation • Customised phrase chunker to identify candidate terms: - Noun phrases (NP), prepositional phrases (PP), verb phrases (VP) - Neoclassical combining forms phrases (Token groups containing Latin/Greek prefixes, roots, suffixes) - Past-participle and gerund NPs: - 'results in increased blood pressure', 'fasting blood glucose' - List expansion: - 'mild, moderate and severe hypertension → mild hypertension, moderate hypertension and severe hypertension' - 'lowering of heart rate and blood pressure → lowering of heart rate and lowering of blood pressure' - Abbreviation expansion: 'waist circumference (WC)'
  • 14. Solutions: GATE-MetaMap Server integration plugin - Extracts clinical concepts, in context, from large guideline texts in multiple formats and encodings (PDF, XML, RTF, ASCII, UTF-8) - Exchanges data/annotations with a MetaMap server - Implements Unicode Normalization Forms for UTF-8 → ASCII - Provides flexible text chunking options - Optimises input data to MetaMap for mapping to UMLS concepts - Integrates with other information extraction pipelines
  • 16. Guideline patterns Serban et al. (2007), examples: (med_context, target_group, recommendation_operator, med_action) In the event of [pregnancy]med_context, [patients with diabetes]target_group [should]recommendation_op be[prescribed calcium channel blocker]med_action (target_group, med_context, med_goal) For [diabetic patients]target_group with [kidney damage]med_context the [blood pressure target is130/80]med_goal
  • 18. Extracting guideline recommendations … and rules from guideline text
  • 20. Patient data: automatic spelling correction
  • 21. Patient data: automatic spelling correction
  • 22. Patient data: WordNet mappings for coreferencing