=Paper= {{Paper |id=Vol-1515/regular14 |storemode=property |title=Structured data acquisition with ontology-based web forms |pdfUrl=https://ceur-ws.org/Vol-1515/regular14.pdf |volume=Vol-1515 |dblpUrl=https://dblp.org/rec/conf/icbo/GoncalvesTNTM15 }} ==Structured data acquisition with ontology-based web forms== https://ceur-ws.org/Vol-1515/regular14.pdf
     Structured Data Acquisition with Ontology-Based Web Forms
                          Rafael S. Gonçalves∗, Samson W. Tu, Csongor I. Nyulas,
                                  Michael J. Tierney and Mark A. Musen
                                        Stanford Center for Biomedical Informatics Research
                                           Stanford University, Stanford, California, USA




ABSTRACT                                                                   descriptions of information to be collected, such as the severity of
   Structured data acquisition is a common, challenging task that          pain with a particular quality, and at a specific anatomical location.
is widely performed in the field of biomedicine. However, in some          The challenge is to model the assessment instruments and relate the
biomedical fields, such as clinical functional assessment, little effort   assessed data to a domain ontology with which one can formulate
has been done to structure functional assessment data in such a            meaningful queries.
way that it can be automatically employed in decision making (e.g.,           In this paper, we describe a solution for representing, acquiring
determining eligibility for disability benefits) based on conclusions      and querying assessment data that uses (1) domain ontologies and
derived from acquired data (e.g., assessment of impaired motor             standard terminologies to give formal descriptions of entities in our
function). In order to be able to apply such automatisms, we need          chosen domain, (2) an information model of assessment instruments
data structured in a way that can be exploited by automated deduction      to drive the generation of data-acquisition Web forms, and (3)
systems, for instance, in the Web Ontology Language (OWL); the             a data model for the acquired information that links the data to
de facto ontology language for the Web. The rise of OWL caused             the domain ontologies and standard terminologies. Such linkage
a paradigm shift in knowledge systems from frame-based to axiom-           makes it possible to query and aggregate the data using the logical
based. Because of the axiom-based nature of OWL, it is more                representation of the domain concepts in the ontologies.
difficult to acquire instance data based on OWL than it was based
on frames. In this paper we tackle the problem of generating Web           2     RELATED WORK
forms from OWL ontologies, and aggregating input gathered through
                                                                           In addition to the comparison with Protégé-Frames’ template-based
these forms as an ontology of “semantically-enriched” form data that
                                                                           instance acquisition method described in Section 1, we briefly
can be queried using an RDF query language, such as SPARQL.
                                                                           contrast our work with two other systems that are designed to use
The ontology-based structured data acquisition framework that we
                                                                           forms for acquiring structured data: the first targets the domain of
have developed is presented through its specific application to the
                                                                           patient assessment, which is similar to the work reported here, while
clinical functional assessment domain, with examples of how one can
                                                                           the second is a generic Web-based technology from which one can
perform desirable analyses of gathered data with simple queries.
                                                                           draw examples on how to arrive at a domain-independent solution.
                                                                              The clinical documentation system described in [6] uses a
1   INTRODUCTION                                                           template schema to allow a technology-savvy clinician to create
Ontology-based form generation and structured data acquisition             documentation templates that include the local structure of
was first pioneered almost 30 years ago. In the early 1990s,               subforms and potentially complex clinical descriptions consisting
Protégé-Frames used definitions of classes in an ontology to             of features and their values. The features and values are mapped
generate knowledge-acquisition forms, which could be used to               to a medical ontology, and the system automatically generates
acquire instances of the classes [2, 3]. With OWL as the preferred         ontological descriptions of the data elements based on the mappings.
modeling language for ontologies, class definitions are collections        Constrained by our goal to replicate existing forms, we took the
of description logic (DL) axioms, and can no longer be seen                opposite approach where we start with ontological descriptions
as templates for forms [9]. Unlike template-based knowledge                of the data elements, specify how they are used in assessment
representations, where what can be said about a class is defined           instruments as part of the description of instruments, and generate
by the slots of the class template, axiom-based representations do         Web forms for the acquisition of data. Having the freedom to design
not have this kind of locally scoped specification, and allow any          their documentation system, Horridge et al. avoided the laborious
axiom describing the same class to be added to the ontology, as            work of manually modeling the domain concepts.
long as the axiom does not lead to inconsistencies. Template-based            Semantic wikis extend regular wikis with semantic technologies,
knowledge representation systems use closed-world reasoning and            wherein each wiki article is an RDF resource, and an instance
have local constraints (e.g., cardinality of a slot for a particular       of some resource such as a class defined in the schema,1 which
class) that can be validated easily, while in an axiom-based system        can be asserted to have relations with other RDF resources. These
with the open-world assumption such local constraint checking is           relations are defined by the authors of wiki articles, which could
much more problematic. Furthermore, in our chosen application              be a challenging task to perform without previous knowledge of the
domain, assessment instruments have specific formats that do not           domain or the modeling. In a survey of semantic wikis featuring
lend themselves to be seen as representing instances of domain             OWL reasoning and SPARQL2 querying facilities [4], a user
ontology classes. Items in the instruments have potentially complex
                                                                           1   The typical kinds of schema accepted are OWL and RDFS.
∗ To whom correspondence should be addressed: rafaelsg@stanford.edu        2 http://www.w3.org/TR/rdf-sparql-query




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Gonçalves et al



evaluation of a chosen semantic wiki implementation concluded that         International Classification of Functioning, Disability and Health
authoring instance data in such a way is cumbersome, even with             (ICF),4 developed by the World Health Organization (WHO), and
users that were familiar with ontologies. A good solution to this          other reference terminologies such as SNOMED CT.5
would be exploiting the relations defined in the schema to provide
“wiki article templates” whose form input fields derive from those         Imports structure The modeling tasks of this project involve
relations, thus making it easier to author semantic wiki articles.         describing different domain areas, leading us to create separate
                                                                           ontology files that can be re-used independently. In our specific
                                                                           application we use the full import closure as depicted in Figure 1.
3   APPLICATION DOMAIN
Clinical functional assessment provides the application motivation                                  Form specification
                                                                              Instance data
for our work. Functional assessment is the evaluation of an                                            form 1
                                                                                form data                 form 2               datamodel
individual’s ability to perform body functions (e.g., flexing a joint)
                                                                                                           form n
and defined tasks (e.g., walking a specific distance). It is necessary                                                                          Legend

for evaluating disabilities for rehabilitation, for social security                                                                        domain-independent


payment, or for decisions to retain or discharge service members                                                                             domain-specific

                                                                                 criteria           CFA                  ICF
who may be injured on duty. Despite its importance, it is not usually                                                                      application-specific

                                                                              Querying and                                                    owl : imports
supported by electronic health record (EHR) systems [1]. These                classification
                                                                                                     Functional assessment

assessments are often documented using assessment instruments
                                                                           Fig. 1: Imports structure and role separation of ontologies developed
(e.g., check-lists and validated questionnaires) such as Karnofsky
                                                                           for, or included as part of our modeling solution. Form specifications
Performance Status [11]. Too frequently the data derived from using
                                                                           use terms from the datamodel ontology (e.g., to create question
these instruments are saved as either blobs or non-standard data
                                                                           instances) as well as from domain-specific ontologies (e.g., CFA).
elements. While a standard such as LOINC R (Logical Observation
Identifiers Names and Codes) defines the syntactic structures of              The ontology marked as Instance data in Figure 1 is the
assessment instruments as a hierarchy of panels with questions that        collection of data assertions from form submissions, possibly from
have coded answers [10], it does not relate the semantic content           different forms. The ontologies represented in Form specification
of the questions and answers to standard terminologies and data            are specifications of different forms; in our case, we use a single
models that allow meaningful querying and aggregation of acquired          ontology that specifies two closely-related forms. The content of
data.                                                                      the above-mentioned ontologies is application-specific, that is, the
   In our application scenario we use, as exemplars, the                   way the data is represented is directly derived from the way in
U.S. Department of Veterans Affairs (VA) Disability Benefits               which forms are modeled (for different assessment instruments).
Questionnaires (DBQs). DBQs are used to evaluate service                   However, resulting data still conform to the generic information
members’ disabilities and to determine the benefits for which              models specified in the datamodel ontology. In this way, there is
they are eligible. We start off with these DBQs as our initial             a separation of the Form specification ontologies (Abox axioms)
form specifications, and design an ontology-based method for               from the Functional assessment ontologies that model the functional
Web form generation and structured data acquisition, subsequently          assessment domain and data models (mostly Tbox axioms). In
exemplifying how one would go about exploiting such data for               Querying and classification we use a domain-specific ontology to
immediate or post facto analyses.                                          apply SWRL rules,6 and define complex OWL classes to facilitate
                                                                           querying in SPARQL and in OWL.
4   MODELING
                                                                           ICF ICF is a multi-purpose classification that, together with
In order to capture the semantic distinctions that are needed
                                                                           the International Classification of Diseases (ICD),7 is a reference
in functional assessment, we developed a Clinical Functional
                                                                           classification in the WHO Family of International Classifications
Assessment (CFA) ontology that models the concepts and
                                                                           (WHO–FIC). It provides a standard language and conceptual basis
relationships that occur in functional assessment instruments. We
                                                                           for the definition and measurement of functions and disability.
developed information models for such instruments and for data
                                                                           However, unlike ICD codes that represent possible disease or
captured in the instruments. We will show how the CFA ontology
                                                                           injuries, coding different health and health-related states requires
and information models inform the generation of data-acquisition
                                                                           that ICF codes (e.g., “d4501” - walking long distance) be used
forms and how the resulting data can be queried and aggregated.
                                                                           in conjunction with component-specific qualifiers (e.g., a 0 to
Our goal was to develop a set of light-weight ontologies and
                                                                           4 scale to encode the range of impairment). Such a complex
models with minimal ontological commitments, and postponing
                                                                           coding scheme makes it difficult to transform data derived from
alignment with possible upper-level ontologies to the future.
                                                                           assessment instruments into the ICF format. Nevertheless, ICF
Existing ontologies, such as the Information Artifact Ontology
                                                                           provides a reference conceptual basis for the definition and
(IAO),3 do not provide a modeling of forms and questions that we
                                                                           measurement of functions and disability, thus justifying its usage in
could reuse. Furthermore, what we need is an information model
                                                                           descriptions of functional assessment results, despite its limitations
that states, for example, that the structure of a “question” includes
a specific text, not an ontology that models parts of information
                                                                           4 http://www.who.int/classifications/icf/en
artifacts as ontological entities (e.g., modeling the text of a question
as an instance of “textual entity” class). Our ontologies reference the    5 http://www.ihtsdo.org/snomed-ct
                                                                           6 http://www.w3.org/Submission/SWRL

3 https://code.google.com/p/information-artifact-ontology                  7 http://www.who.int/classifications/icd/en




2                            Copyright c 2015 for this paper by its authors. Copying permitted for private and academic purposes
as a formal ontology [7]. To reference ICF concepts in our                 Datamodel The datamodel ontology is a generic, context-free
modeling of functional assessment descriptors, we use a version            representation of a form (e.g., it models elements such as questions
of ICF available from the National Center of Biomedical Ontology           and sections) and the data generated from a form (e.g., a string value
(NCBO) BioPortal repository [8], that is represented in OWL.               from a text area, or values from an enumerated value set). Figure 3
                                                                           summarizes key aspects of our modeling: elements of a form are
CFA The Clinical Functional Assessment (CFA) ontology models               asserted as subclasses of FormStructure, such as Form, Section
concepts and relationships that allow us to give formal descriptions       and Question. Each kind of FormStructure generates some kind of
of the findings, assessments, and measurements embodied in                 Data; every form submission generates an instance of FormData,
clinical functional assessment instruments. The ontology is divided        which references (via the hasComponent property) all instances of
into three main branches: (1) Finding: the result of an observation        Data generated in the process of parsing form answers. Specific
or judgement, (2) Value that defines collections of possible               sections such as SubjectInfoSection collect information pertaining
qualifiers and values for findings, and (3) SubjectMatterOntology          to a subject, and these details are aggregated in an instance of
that provides internally defined domain concepts that either are not       SubjectInformation. An answer to an instance of Question gives rise
available from standard terminologies or are references to standard        to an instance of Observation with a hasValue property assertion
terms that need to be organized into taxonomies. The Finding               to the IRI of the selected answer. An instance of Observation will
class is further subdivided into Assessment (those findings that have      be inferred to have an outgoing hasFocus property assertion if the
non-numeric result) and Measurement (those findings that have              Question instance it derives from encodes some kind of semantic
numeric results). We also define FunctionalFinding (a subclass of          description of the question’s meaning via the isAbout relation. Each
Finding) and FunctionalAssessment (a subclass of Assessment). In           instance of Question specifies a set of possible (answer) values via
general, a functional assessment will have some assessed function          a hasPossibleValue relation to a subclass of Value.
that can be related to an ICF body function or activity (possibly as
an exact match, specialization, or generalization), some assessed           FormStructure                                                                                      Data

attribute, such as severity, that specifies the dimension of the
function being assessed, and optionally some anatomical location                         Form                               generates                             FormData
of the assessment. Both findings and functions can be modified by                      hasSection                                                               hasComponent

qualifiers that further refine these entities. For example, a functional
assessment may be made in the context of using assistive devices,                       Section                             generates                             Metadata

and a function being assessed may have some temporal component                                       SubjectInfoSection                    SubjectInformation




                                                                                                                               generates
(e.g., constant or intermittent pain). ICF being an imported ontology                                EvaluatorInfoSection                  EvaluatorInformation
for CFA, all ICF categories, such as body structure, body function,
                                                                                                     CertificationSection                      Certification
activities and participation, and environmental factors are available
                                                                                       hasQuestion                                                              hasComponent
for formalizing descriptions of functional assessments. For other
standard terminologies such as SNOMED CT, ICD, and LOINC,                              Question                             generates                           Observation
instead of importing them as ontologies, we make references to them
                                                                                     hasPossibleValue     isAbout                               hasFocus           hasValue
through an ExternallyCodedValue that specifies the terminology
source and code. Queries that reference these codes require the                          Value                DataElementDescription                       DataElementValue
availability of terminology services that relate these codes to other
terms in the referenced terminologies.                                      Fig. 3: Excerpt of the datamodel ontology classes and relations.
   The modeling of Finding is exemplified as follows, based on
the “Back (Thoracolumbar Spine) Conditions” DBQ that we use
as one of our exemplar assessment instruments; in the question on          Form The Form ontology contains the set of individuals that
the severity of constant pain caused by radiculopathy on the right         are necessary to produce forms. While the technology we have
lower extremity, we define a subclass of FunctionalAssessment that         developed is completely generic, we use as exemplars the U.S.
has the assessed attribute ‘severity’, the assessed function ‘icf:b2801    Department of Veterans Affairs (VA) DBQs, which we modeled
Pain in body part’ that is qualified by a temporal quality ‘Constant’,     in an ontology named DBQ. This ontology contains instances
and has anatomical location ‘icf:s750. structure of lower extremity’       of Question, Section, Form and other elements defined in the
with laterality ‘Right’. Figure 2 illustrates the modeling of this         datamodel ontology (shown in Figure 3). Not only does this
assessment. With the modeling of the dimensions of assessment              ontology rely on datamodel (for form structuring purposes), it also
instrument questions, we can make queries on, and aggregate data           relies on functional assessment classes and individuals given in the
collected through the instruments, as will be shown in Section 6.          CFA ontology, for example, values of a scale of severity of pain
                                                                           that should be presented as answer options to users reporting on the
                                                                           severity of constant pain in the lower extremity.


                                                                           Criteria The criteria ontology contains SWRL rules to enrich the
                                                                           domain representation (e.g., if a Question instance has an isAbout
                                                                           relation with some instance i, then the Observation data instance
                                                                           that represents the answer to that question will get a hasFocus
                                                                           property filler i), as well as defined classes used to better support
Fig. 2: Modeling of “severity of constant pain caused by                   querying, which we describe in more detail in Section 6.
radiculopathy in the lower right extremity”.

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Gonçalves et al



5   OWL-BASED DATA ACQUISITION                                             question type (e.g., radio, checkbox, dropdown, horizontal
Our approach to data acquisition in OWL requires two components:           checkbox, etc), question-list layout (vertical or inline) and
firstly, an OWL representation (in the form of one or more                 recurrence; one can specify that a collection of questions should
ontologies) of the form structures (questions, sections, etc), and         be repeated any given number of times. Some more complex
descriptions of those structures’ meanings, and, secondly, the view        options include overriding the default (alphabetic) order of
component that is given by an XML file specifying user-interface           answer options, and triggering sub-questions when a specific
aspects. So, in order to use our method, a user will have to model         answer is selected. These two features are exemplified in
questions and their descriptions in OWL, and then specify the layout       Figure 4: this question is configured with an attribute/value
and content of the resulting form in XML.                                  pair: showSubquestionsForAnswer=“cfa:Yes” on the question XML
   We implemented our form generation and data acquisition tool in         element, so that answering ‘Yes’ triggers the sub-questions of
Java, using the OWL API v4.0.1,8 and its source code is publicly           that question. In Figure 4, under ‘Right lower extremity’, we
available on GitHub.9 The tool implementation and configuration            have a question with a list of answer options derived from
details are omitted here due to lack of space, but can be found in the     an enumerated value set, which would ordinarily be ordered
GitHub project wiki. The tool takes as input a user-defined XML            alphabetically. However, ‘None’ would then appear between
configuration file, generates a form, and outputs form answers in          ‘Moderate’ and ‘Severe’, thus interrupting a severity scale. So
CSV, RDF and OWL formats. The configuration file should contain            we added: optionOrder=“3;*” to the question element, which
a pointer to the ontology specifying the form, as well as its imports.     states that the would-be third option (alphabetically) should appear
The two major stages in the service are form generation and form           first, and the remaining (the “*” wild character stands for “all
input handling, as described below.                                        unmentioned options”) should be presented in default order.

(1) Form generation – Steps to produce a form:
    (a) Process XML configuration, gathering form layout
        information, IRIs and bindings to ontology entities
    (b) Extract from the input ontology all relevant information
        pertaining to each form element:
        (b.1) Text to be displayed (e.g., section header, question text)
        (b.2) Options and their text, where applicable
        (b.3) The focus of each question
    (c) Generate the appropriate HTML and JavaScript code
(2) Form input handling – Once the form is filled in and submitted:
    (a) Process answer data and create appropriate individuals             Fig. 4: The user interface of the form generated for the DBQ
    (b) Produce a partonomy of the individuals created in (2.a) that       question corresponding to radiculopathy pain modeled in Figure 2.
        mirrors the layout structure given in the configuration               The key output of the data acquisition tool is the OWL ontology,
    (c) Return the (structured) answers to the user in a chosen format     as it provides us with “semantically enriched” form data that can be
  The user-defined XML configuration (1.a) specifies: input and            used for aggregation and querying. The resulting data individuals
output information of the tool, bindings to ontology entities, and         are structured in OWL (via hasComponent relations) similarly to
layout of form elements. The key XML elements are:                         how the form is structured in the configuration, that is, if question
                                                                           Q is configured as having two sub-questions, then the Observation
input: contains an ontology child element, and optionally a child          individual generated by Q will have two outgoing hasComponent
  element named imports                                                    relations to the instances of Observation generated by the two sub-
     ◦ ontology: absolute path or URL to the form specification            questions of Q.
       ontology (e.g., DBQ ontology)
                                                                           6   DATA ANALYSIS
    ◦ imports: contains ontology child elements, which have an
       attribute iri, giving the IRI of the imported ontology              One of the authors (Michael J. Tierney), who is a physician from
output: contains the following child elements                              the VA Palo Alto Healthcare System, validated the generated
    ◦ file: defines, via a title attribute, the title of the form.         OWL-based versions of the DBQ forms, and filled in the “Back
       Optionally, a path can be specified within the file element         (Thoracolumbar Spine) Conditions” DBQ with 5 complete sets of
       where the HTML form file should be serialized                       sample data. The data gathered are stored in a graph database with
                                                                           support for SPARQL 1.1 querying and OWL 2 reasoning.
    ◦ cssStyle: the CSS style class to be used in the output HTML
                                                                              Since our data are both structured and semantically enriched, we
bindings: defines mappings to ontology entities, such as what data
                                                                           are able to query the observations using SPARQL, classify them
  property is used to state the text of a question, or section headings
                                                                           into criteria representing powerful OWL expressions, or manipulate
form: defines the layout and behaviors of the form
                                                                           them using SWRL. For example, Code Snippet 1 presents a simple
  There is a wide range of versatility when configuring forms,             SPARQL query that returns all instances of Observation where a
such as: multiple levels of sub-questions, form element numbering,         patient presented signs or symptoms due to radiculopathy. It is worth
                                                                           observing that this query is formulated in such a way that it is
                                                                           independent of the assessment instrument, including the particular
8 http://owlapi.sourceforge.net
                                                                           formulation of the question, but rather uses the appropriate focus
9 http://github.com/protegeproject/facsimile                               individual from our CFA ontology.


4                            Copyright c 2015 for this paper by its authors. Copying permitted for private and academic purposes
Code Snippet 1 SPARQL query for retrieving all observations of
radicular pain due to radiculopathy.                                   The modeling contributions include (1) CFA: a clinical functional
                                                                       assessment domain ontology that allows defining questions being
SELECT ?obs WHERE {
  ?obs a datamodel:Observation .                                       asked in an assessment instrument in terms of a rich ontology that
  ?obs datamodel:isDerivedFrom ?q .                                    integrates standard terminologies such as ICF and SNOMED CT,
  ?q a datamodel:Question .                                            and which provides the means for making detailed or aggregate
  ?q cfa:isAbout                                                       queries on acquired data, and (2) datamodel: an information model
     cfa:signs_or_symptoms_due_to_radiculopathy .
  ?obs cfa:hasValue cfa:Yes }
                                                                       that allows the specification of generic assessment forms and the
                                                                       format of structured data acquired through the instruments.
                                                                          We have designed our output model to support the acquisition
                                                                       of structured data through Web forms, and for the potential to
  In order to query for all observations of severe pain anywhere in    integrate the data inside EHRs. It is straightforward to transform
the lower extremity, one could formulate an OWL DL query such as       the data we capture as instances of Observation, Certification,
that given in Code Snippet 2.                                          EvaluatorInformation, and SubjectInformation into, for example,
                                                                       Health Level Seven (HL7) Reference Information Model (RIM)
Code Snippet 2 OWL DL query for retrieving all observations of         standard compliant data [5]. Finally, we have shown that the
severe pain anywhere in the lower extremity.                           problem of structured data acquisition can be suitably tackled
datamodel:Observation and                                              using OWL; our solution, though applied to the clinical functional
cfa:hasValue value cfa:severe and
cfa:hasFocus some (cfa:Assessment and
                                                                       assessment domain for the context of this paper, is entirely generic,
    (cfa:hasAssessedFunction some                                      and can easily be applied to an arbitrary domain.
        (cfa:isExactMatchOf some
            ’icf:b2801. Pain in body part’)) and
    (cfa:hasAnatomicalLocation some                                    ACKNOWLEDGMENTS
        ’icf:s750. Structure of lower extremity’))                     This work is supported in part by contract W81XWH-13-2-0010
                                                                       from the U.S. Department of Defense, and grants GM086587 and
   In response to the query in Code Snippet 2, a DL reasoner uses      GM103316 from the U.S. National Institutes of Health (NIH).
the semantic descriptions of the observation foci, which are derived
from the questions’ isAbout property, to aggregate answers for         REFERENCES
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modeling of forms and questions is consistent with the format of         (2009). BioPortal: ontologies and integrated data resources at the
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answer to a specific question means.                                     models. In Proc. of K-CAP-13.
   We presented our modeling of functional assessments and             [10] Vreeman, D. J., McDonald, C. J., and Huff, S. M. (2010).
assessment instruments, and demonstrated (1) how to generate             Representing patient assessments in LOINC R . In Proc. of AMIA.
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