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  <front>
    <journal-meta />
    <article-meta>
      <title-group>
        <article-title>Applications of OBI 'assay'</article-title>
      </title-group>
      <contrib-group>
        <contrib contrib-type="author">
          <string-name>Mark Jensen</string-name>
          <email>mpjensen@buffalo.edu</email>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Alexander P. Cox</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Jonathan P. Bona</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>William Duncan</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Patrick L. Ray</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Alexander D. Diehl</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <aff id="aff0">
          <label>0</label>
          <institution>The State University of New York at Buffalo Buffalo</institution>
          ,
          <addr-line>NY</addr-line>
          ,
          <country country="US">USA</country>
        </aff>
      </contrib-group>
      <pub-date>
        <year>2014</year>
      </pub-date>
      <fpage>96</fpage>
      <lpage>98</lpage>
      <abstract>
        <p>-We discuss the applicability of using the OBI assay paradigm for representing patient questionnaires, neuropsychological tests, and neurological exams, as well to annotate data generated from these assessments. We conclude that the specification for OBI 'assay' employs a broad enough notion of evaluation to allow for these uses. However, it would be preferable to introduce subclasses of OBI 'planned process' or OBI 'assay' that explicitly addresses these types of use cases and provides clear groupings for general types of assays.</p>
      </abstract>
      <kwd-group>
        <kwd>assay</kwd>
        <kwd>OBI</kwd>
        <kwd>questionnaire</kwd>
        <kwd>neuropsychological test</kwd>
        <kwd>neurological exam</kwd>
        <kwd>clinical history</kwd>
      </kwd-group>
    </article-meta>
  </front>
  <body>
    <sec id="sec-1">
      <title>I. BACKGROUND</title>
      <p>
        The Ontology for Biomedical Investigations (OBI) is an
integrated ontology for the description of biological and
clinical investigations [
        <xref ref-type="bibr" rid="ref1">1</xref>
        ]. OBI is a domain ontology that
provides a set of terms and relations to support precise
annotation and querying of the data generated in biomedical
investigations. It represents the design, types of analyses and
assays performed, specifications, and data generated, resulting
in classes such as ‘assay’, ‘plan specification’, and
‘measurement datum’. OBI defines ‘assay’ as “a planned
process with the objective to produce information about the
material entity that is the evaluant, by physically examining it
or its proxies” [
        <xref ref-type="bibr" rid="ref2">2</xref>
        ]. All assays have a specified output, an
information content entity, which is about the evaluant.
      </p>
    </sec>
    <sec id="sec-2">
      <title>Examples of usage are: “Assay the wavelength of light emitted</title>
      <p>by excited Neon atoms. Count of geese flying over a house.”</p>
    </sec>
    <sec id="sec-3">
      <title>Subclasses of OBI ‘assay’ include many laboratory-specific examples, such as ‘sequencing assay’ and ‘metabolite profiling’. However, other types include ‘performing a clinical assessment’, ‘age measurement assay’, and ‘handedness assay’.</title>
    </sec>
    <sec id="sec-4">
      <title>Several projects are underway which seek to represent and annotate data generated from different types of forms, questionnaires, and tests. Each of these uses-cases broaden the application of OBI ‘assay’ in one or more ways.</title>
      <p>
        Neuropsychological tests are used to assess cognitive
domains such as attention, visual-spatial ability, memory,
executive function, and language comprehension and
expression. In addition to representing the structure of these
neuropsychological tests, it is crucial to capture the cognitive
processes and functions that they evaluate as well as the data
they produce. The neuropsychological Testing Ontology (NPT)
utilizes OBI’s assay paradigm to represent these tests [
        <xref ref-type="bibr" rid="ref3">3</xref>
        ]. The
handedness assay was used as a starting point to model these
tests. However, difficulties have been encountered in relating
the assay process to the cognitive processes and functions
being evaluated. Also, cognitive functions, such as short-term
memory, cannot be the bearer of measureable qualities. The
solution in NPT is to connect a cognitive process to the
function it realizes in the assay process using a new
relationship between a data item and a function.
      </p>
    </sec>
    <sec id="sec-5">
      <title>The Multiple Sclerosis Patient Data Ontology (MSPD) has</title>
      <p>
        been developed to represent both clinical measures and patient
reported outcomes (PRO) associated with the New York State
Multiple Sclerosis Consortium (NYSMSC) patient data
registry [
        <xref ref-type="bibr" rid="ref4">4</xref>
        ]. A PRO is generally considered to be an assessment
of any aspect of a patient's health status that comes directly
from the patient and without any interpretation by a clinician
[
        <xref ref-type="bibr" rid="ref5">5</xref>
        ]. The data registry uses standardized forms addressing
demographic and clinical information, disease status and
progression. It also includes data pertaining to patients’
perception of their quality of life and wellbeing, which
includes assessment of physical and psychosocial impairment.
      </p>
    </sec>
    <sec id="sec-6">
      <title>During the enrollment process patients are asked to rate their</title>
      <p>perception of their own functional abilities and affective states.
A difficulty in using the assay framework has been in
reconciling what qualifies as a physical examination and
subsequent evaluation. An output of a survey in which a patient
is asked to make a judgment about his or her perceived
limitation in a particular limb or visual acuity may indeed
qualify in this case as a sort of post-hoc physical exam which
allows the evaluant to also be the evaluator. The OBI
‘selfreported handedness assessment’ supports the application of
‘assay’ to cases where a patient self-evaluates outside the
context of a direct physical exam.</p>
    </sec>
    <sec id="sec-7">
      <title>However, it is less clear how questionnaires and forms that</title>
      <p>obtain basic demographic data fit within OBI’s account of
assays. A patient responding to questions such as date of birth,
marital status, insurance provider, etc. pushes one to reconsider
what is being evaluated, especially since no physical
examination is involved.</p>
      <p>
        A related project is the development of an ontology-based
medical history module to extend a legacy clinical information
management system. This module collects, structures, and
stores data using OBO Foundry ontologies and semantic web
technology. Part of this work involves the development of an
ontological model for health history questionnaires, each
consisting of a series of questions to be answered by the patient
during a medical history interview session. While many
question answers that make up a patient's clinical history are
clearly about the patient’s body or are the result of some
physical examination of the patient, others do not seem to fit
the OBI assay framework. Family history questions are
problematic in this regard. So are questions about the existence
of a previous diagnosis, such as “Has a doctor ever told you
that you had a myocardial infarction or heart attack?” [
        <xref ref-type="bibr" rid="ref6">6</xref>
        ]. The
planned process of soliciting an answer to this question is
intended to produce information about physical entities (the
patient; her heart) as well as information about related entities
such as diagnoses. However, asking and answering this
question and recording the answer does not directly involve a
physical examination. An answer of “yes” to this question most
likely indicates that a previous assay resulted in the original
diagnosis; however it is much more difficult to argue for any
connection between an answer of “No” (or “I'm not sure”) and
any sort of physical examination.
      </p>
    </sec>
    <sec id="sec-8">
      <title>II. CONCLUSION</title>
      <p>As it is currently defined, OBI ‘assay’ allows for a broad
interpretation of what it means to physically examine or
evaluate a patient. While neuropsychological tests and clinical
exams can be made to fit within the assay framework,
modification is required. Subjects being asked to evaluate
aspects of their own bodily functioning or cognitive and
affective status provides another challenge for understanding
and implementing OBI ‘assay’, yet this ontological class can
still provide a plausible solution. However, questionnaires,
demographic information, and factual tests with no interpretive
or summary outputs go beyond what can be accomplished
using OBI ‘assay’. As a result, they raise interesting questions
about what modifications or additions to OBI are required.</p>
      <p>Our poster details the discussed uses of OBI ‘assay’ and
summarizes the difficulties encountered. We offer alternatives
and suggest the inclusion of a general set of assay and planned
process types which will aid in recognizing distinctions
between the various assessment strategies. Our hope is that this
work will promote development in OBI and assist others who
are using the assay paradigm in OBI.
The Ontology for Biomedical Investigations (OBI) is an
integrated ontology for the description of biological and
clinical investigations. It represents the design, types of
analyses and assays performed, specifications, and data
generated during an investigation. Thus, it provides classes
such as assay, plan specification, and measurement
datum. An assay is a planned process which produces
information about an evaluant. Examples of assays include:
assay the wavelength of light emitted by excited neon
atoms” and “count the number of geese flying over a
house. Subclasses of OBI assay include
laboratoryspecific examples, such as sequencing assay and
metabolite profiling . However, other types include
performing a clinical assessment , age measurement
assay, and handedness assay . Several projects at the
University at Buffalo seek to represent and annotate data
generated from different types of questionnaires, forms, and
tests. Each of these provide a use case that broadens the
current application of OBI assay in one or more ways,
possibly stretching its applicability.</p>
      <p>OBI Assay!
The class ‘assay’ is central to OBI’s purpose and utility. The
paradigm for representing assays involves several key
components that relate to the assay class, as shown below.
The evaluant role specifies the mode of participation in the
assay for the entity under study. The measurement data
item represents information derived from executing an
assay. The assay objective specifies the goal of the assay.
Each of these is essential to representing and differentiating
subtypes of assay.
OBI ‘assay’ has many subclasses. Among these, the ‘analyte assay’
classes represents “classic” laboratory assays in which a substance
with an analyte role is detected in a mixture, which bears the
evaluant role. Other OBI assays omit naming of the analyte and its
role, but follow a similar design pattern, where the evaluant role is
reserved for the entity under study.</p>
      <p>A key question is whether the material entity bearing the evaluant
role can be a sentient creature, a person, who may be assayed via
observation or direct questioning to yield information that is about
non-material aspects of that person. A precedent for this in OBI is
the ‘handedness assay’ and its subclasses, which represent assays
about the handedness of a person.</p>
    </sec>
  </body>
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