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<article xmlns:xlink="http://www.w3.org/1999/xlink">
  <front>
    <journal-meta />
    <article-meta>
      <title-group>
        <article-title>Explainable Classification of Medical Documents Through a Text-to-Text Transformer</article-title>
      </title-group>
      <contrib-group>
        <contrib contrib-type="author">
          <string-name>Mihai Horia Popescu</string-name>
          <email>mihaihoria.popescu@uniud.it</email>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Kevin Roitero</string-name>
          <email>kevin.roitero@uniud.it</email>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Vincenzo Della Mea</string-name>
          <email>vincenzo.dellamea@uniud.it</email>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <aff id="aff0">
          <label>0</label>
          <institution>Dept. of Mathematics</institution>
          ,
          <addr-line>Computer Science and Physics</addr-line>
          ,
          <institution>University of Udine</institution>
          ,
          <addr-line>Udine</addr-line>
          ,
          <country country="IT">Italy</country>
        </aff>
      </contrib-group>
      <abstract>
        <p>Death certificates are important medical records which are collected for the purpose of public healthcare and statistics by multiple organizations around the globe. Due to their importance, those certificates are compiled by experienced medical practitioner according to a standard defined by the World Health Organization including rules to select an underlying cause of death (UCOD). For this reason, the coding of death certificates is a slow and costly process. To overcome these issues, the scientific community proposed deep learning approaches to perform such a task. Despite those systems achieve high accuracy scores (close to 1), their complexity makes the obscure to the final user, making it unfeasible the adoption as a decision support system.</p>
      </abstract>
      <kwd-group>
        <kwd>deep learning</kwd>
        <kwd>XAI</kwd>
        <kwd>automated coding</kwd>
        <kwd>medical documentation</kwd>
        <kwd>generative model</kwd>
      </kwd-group>
    </article-meta>
  </front>
  <body>
    <sec id="sec-1">
      <title>1. Introduction</title>
      <p>
        Traditionally, natural language processing (NLP) applications have been built on techniques that
are natively explainable. Such techniques are generally referred to as “white box” techniques,
and are mainly implemented using rule-based heuristics, decision trees, hidden Markov models,
etc. [
        <xref ref-type="bibr" rid="ref1">1</xref>
        ]. Recent advances in Deep Learning (DL), a “black box” machine learning technique, have
dramatically improved Neural Network (NNs) accuracy and increasingly gained interest from
stakeholders. As a result, DL became the dominant approach in NLP and have seen wide adoption
in a large amount of applications [
        <xref ref-type="bibr" rid="ref2 ref3">2, 3</xref>
        ]. Such a popularity of DL based approaches have been
pursued by focusing merely on efectiveness on such a systems and thus resulting in efective
models lacking of interpretability. Hence, concerns have been raised on the adoption of such
black box methodologies in specific sensitive applications such as healthcare, decision making,
and finance, in which settings it is fundamental to rely on interpretable models [
        <xref ref-type="bibr" rid="ref4 ref5">4, 5</xref>
        ]. As a result,
for sensitive domains and real-world decision-making systems, the mere efectiveness of the
system is not enough; those systems also need to support the reliability of the produced result and
It
(V. Della Mea)
thus provide a feedback e.g., in the form of a confidence score or a human-readable explanation
to inform the final user if the produced result is likely to be correct and/or trustworthy or
to explain the rationale behind the model decisions [
        <xref ref-type="bibr" rid="ref6">6</xref>
        ]. For these reasons, in recent times
we observed an increase of interest from the community to develop and improve methods
for the interpretability of DL models, especially towards the generation of human-readable
explanations generated using explainable artificial intelligence (XAI) models [
        <xref ref-type="bibr" rid="ref1 ref3 ref7">1, 3, 7</xref>
        ].
      </p>
      <p>
        Recently, many works have been developed to produce natural language explanations for DL
systems [
        <xref ref-type="bibr" rid="ref8 ref9">8, 9</xref>
        ]. While diverse approaches that can be used to generate explanation exist, most of
these methods can be categorized as producing post-hoc explanations. Such kind of techniques
target models that are not interpretable by design and are used to enhance the interpretability
of the underlying model choices [
        <xref ref-type="bibr" rid="ref7">7</xref>
        ].
      </p>
      <p>
        In this paper we propose a methodology able to generate a human readable explanation for
the predictions produced by a model designed in the context of select the underlying cause
of death from death certificates with, which achieves very high accuracy scores (close to 1)
[
        <xref ref-type="bibr" rid="ref10 ref11 ref12">10, 11, 12</xref>
        ], but it is not being adopted in practice due to its lack of interoperability.
      </p>
    </sec>
    <sec id="sec-2">
      <title>2. Background and Related Work</title>
      <p>
        In general, XAI approaches can be categorized from diferent perspectives: local versus global
[
        <xref ref-type="bibr" rid="ref13">13</xref>
        ], transparent models versus post-hoc explainability [
        <xref ref-type="bibr" rid="ref7">7</xref>
        ], based on XAI goals (such as
trustworthiness, causality, transferability, etc.) [
        <xref ref-type="bibr" rid="ref7">7</xref>
        ]. Our work is based on local and post-hoc explainability,
given that from the exlanations generated it is possible only to understand the reason for the
predicted UCOD. We have identified two major goals that the users may desire and which those
explanations can support;trustworthiness and informativeness.
      </p>
      <p>
        Diferent approaches to enhance interpretability exists in the literature. Ribeiro et al. [ 14]
studied the explainability of a model’s predictions using feature importance-based explanations.
Other approaches, such as the one proposed by Camburu et al. [15], first generate a free-form
natural language explanation, then use such an explanations to infer the classification prediction.
Similarly, Brand et al. [16, 17] shown that one can jointly predict and generate an explanation
for classifying the veracity of statements. From a diferent perspective, some other works used
the confidence of the model as a reliability measure for the correctness of the predictions by
computing a calibrated confidence score [
        <xref ref-type="bibr" rid="ref6">6</xref>
        ]. Finally, other works such as the one proposed by
Agarwal et al. [18] leveraged alternative measures like the variance of gradients to measure
model reliability and instance dificulty.
      </p>
    </sec>
    <sec id="sec-3">
      <title>3. Data</title>
      <sec id="sec-3-1">
        <title>3.1. The Death Certificate</title>
        <p>The death certificate is the main source of mortality data. Such data is supposed to be collected
in compliance with the standard death certificate format defined in [ 19] and [20].</p>
        <p>The death certificate contains: administrative details, a part called Frame A, and a part called
Frame B. Frame A is used to record the sequence of events leading directly to death, and may
contain conditions that do not belong to the sequence but their presence contributed to death.
Conversely, Frame B contains additional health conditions, such as previous surgery, mode
of death, or place of occurrence. It should be noted that while Frame A contains the textual
expression of conditions as filled by physicians, their corresponding ICD-10 codes are generally
provided by experts coders. The coded version of the certificate is the format used for the
selection of the UCOD.</p>
        <p>The UCOD is the most important information extracted from mortality data, and it is used
for statistical comparison and public health data. It is defined as ’(a) the disease or injury which
initiated the train of morbid events leading directly to death, or (b) the circumstances of the accident
or violence which produced the fatal injury’ [19]. The UCOD is selected according to the coding
rules defined in the reference guide. The chosen code is usually one of the conditions present
in the chains reported by the certifying doctor in Frame A.</p>
      </sec>
      <sec id="sec-3-2">
        <title>3.2. Generation of Ground Truth Explanations</title>
        <p>The system used for the generation of the gold explanations is called DORIS [21], a prototype
rule-based system for mortality coding-based ICD-10 and ICD-11. Those rules can be subdivided
into 2 categories; selection and modification rules. Currently, the system fully supports 18 out
of 38 selection rules, and about 95% of the modification rules. The remaining rules are only
partially implemented. The system was evaluated on datasets for both ICD-10 and ICD-11.
DORIS is unable to code 8.2% of the total certificates and has an accuracy of 78% for ICD-10
[21].</p>
        <p>The explanation generated by DORIS describes the coding instructions used to reach the
selection of the UCOD and the conditions on which the rule is applied. In Table 1 we have
presented two cases of explanations used by DORIS for two coding instructions and the associated
description used in the reference guide. To select the UCOD multiple coding instructions may
be used, as a result the explanations are concatenated.</p>
      </sec>
      <sec id="sec-3-3">
        <title>3.3. Data Source and Preparation</title>
        <p>
          The death certificates data files were collected from the U.S. National Center for Health Statistics
(NCHS)1. The dataset contains a total of 12, 919, 268 records for the years 2014–2017 including
administrative data, coded conditions for frames A and B, and the UCOD that we used as ground
truth. From the full dataset, we extracted 510, 000 records for which the rule-based system
presented in the Section 3.2 was able to correctly select the UCOD. The data then have been
pre-processed to select only the data needed for our experiment. For this task, we choose to use
the sex and age features from the administrative data and conditions from the Frame A. The
dataset has been split into three smaller parts using randomization and stratified sampling by
target UCOD. For the train set, we have selected 400, 000 records, 100, 000 records for the test
set, and the remaining 10, 000 certificates for the validation set. The dataset contains the same
records, dataset split, and reverse coding format used for the NLP model used for the selection
of the underlying cause of death using reverse coding as proposed by Della Mea et al. [
          <xref ref-type="bibr" rid="ref10">10</xref>
          ] and
detailed in the following.
        </p>
        <sec id="sec-3-3-1">
          <title>1https://www.cdc.gov/nchs/data_access/vitalstatsonline.htm</title>
          <p>As input, the model proposed takes the version encoded as text of the certificates. Since the
certificates do not have the original textual conditions present, we had to reverse the work done
by coders because it brings the certificate back to text. The certificate encoded as text needs to
encode both administrative data and conditions. The administrative data were put in an explicit
form (e.g., Female, 39y old). Each line is encoded with the title entity, while for multiple codes
per line, the titles are merged using ”or” expression and the entire line go between parentheses.
The sequence of lines then is concatenated with the expression “due to”, where Part 2 if present,
is concatenated using “in the context of” between the last line of Part 1 and Part 2.</p>
        </sec>
      </sec>
    </sec>
    <sec id="sec-4">
      <title>4. Methods</title>
      <sec id="sec-4-1">
        <title>4.1. Generating Explanations</title>
        <p>We develop and train our models by relying on both the PyTorch2 and HuggingFace3 frameworks.
The experiments have been carried put on a Linux server equipped with 16x Intel(R) Core(TM)
i7-10700 CPU @ 2.90GHz, 70GB of RAM, and 2x Nvidia Geforce RTX 3090 GPUs. We make the
trained model available to the community.4</p>
        <p>T5 [22] is a transformer based model trained on a mixture of both supervised and unsupervised
tasks (i.e., summarization, translation, etc.) [22, Appendix Section]. In this work, we rely on the
T5-base model5, which is a 220 million parameters model composed of an encoder-decoder stack
involving 12 blocks, each of those implementing a self-attention mechanism, an encoder-decoder
attention one, and a feed forward network.</p>
        <p>Many available transformer-based architectures leverage separate transformer models for
either discriminative (e.g., classification) or generative (e.g., text-generation) tasks. As opposed
to this approach, we take inspiration from E-BART [16, 17], a model designed in the context</p>
        <sec id="sec-4-1-1">
          <title>2https://pytorch.org/ 3https://huggingface.co/ 4To request access to the model, send an email to the paper authors. 5https://huggingface.co/t5-base</title>
          <p>Bidirectional Encoder
(BERT)
Explanation Logits</p>
          <p>Gold Explanation</p>
          <p>UCOD
Predicted [SEP] Gold Explanation</p>
          <p>(shifted)
Explanation
t=1
A
t=2
B</p>
          <p>Beam Search
t=3
C
t=n-1</p>
          <p>B
t=n</p>
          <p>EOS
Autoregressive Encoder-Decoder</p>
          <p>(T5)
UCOD
Predicted [SEP]</p>
          <p>A</p>
          <p>B</p>
          <p>C</p>
          <p>E
of misinformation and veracity assessment to perform a discriminative task (i.e., classify the
truthfulness of statements) and a generative one (i.e., generate a human-readable explanation
for the former step) at the same time. In a similar fashion, we develop a model which is capable
of classifying the UCOD of a certificate and generate a human-readable explanation for such a
task. The model training and inference phases are detailed in the following, and summarized in
model loss is computed by considering the conventional multi-class cross-entropy loss function,
where the number of classes is equal to the size of the vocabulary, defined as
ℒ = −</p>
          <p>| |
1
∑</p>
          <p>∑ 
 =1 =1

 log( ̂ )


where  is the batch and  the batch size, | | is the vocabulary size,  is the true token to be
predicted be the model, and  ̂ is the output probability distribution over the vocabulary at each
time-step.</p>
          <p>During the inference step, the model generates the text by leveraging beam search, thus
generating the explanation token-by-token by feeding the input tokens via the cross-attention
layers to the decoder, and then auto-regressively generating the decoder output. To optimize
the generation process, we set the early stopping parameter to the value of true so that the beam
generation is stopped when all beam hypotheses reach the EOS token. Experimentally, we found
that such generation procedure is suitable for the task, and generates relevant explanations for
each input string, thus we found no need to implement constrained search techniques or try
alternatives to beam search. For the same reason, we always select the output sequence with
the highest likelihood as computed by the model.</p>
        </sec>
      </sec>
      <sec id="sec-4-2">
        <title>4.2. Metrics</title>
        <p>We evaluate the generated summaries using the Rouge score [23], a recall-oriented measure
designed to compare a generated textual summary to an ideal one, usually generated by a human
[24, 25]. More in detail, Rouge-N denoted an n-gram metric between a candidate summary and
the reference summary. In this work we consider Rouge–1 (uni-gram based metric), Rouge–2
(bi-gram based), and Rouge–L, that is computed by considering the Longest Common
Subsequence (LCS). More in detail, Rouge precision is defined as the number of overlapping n-grams
between the candidate and the reference summary divided by the number of n-grams in the
candidate summary, Rouge recall is defined as the number of overlapping n-grams between
the candidate and the reference summary divided by the number of n-grams in the reference
summary, and Rouge F1 is the harmonic mean of precision and recall.</p>
      </sec>
    </sec>
    <sec id="sec-5">
      <title>5. Results and Discussion</title>
      <p>Table 2 shows the Rouge scores for the considered datasets. As we can see, we have reached an
overall score near to 1 for all the evaluated n-grams. Each has a high score of precision and recall
and F1 values. The recall shows that in almost all cases the n-grams in the gold explanation
are also present in the generated explanation, while the precision shows that almost all the
n-grams in the generated explanations are present in the reference explanation. Comparing the
n-grams proposed, the bi-grams (Rogue-2 score) has the lowest F1 score with a value of 0.9981.</p>
      <p>Since the overall scores are very high, most of the generated explanations have a perfect
match with the gold explanation. For the remaining cases we also perform a qualitative analysis
of the generated explanations, by comparing them to the rule-based system, considering the
structure of the rule, the conditions involved and terminology. Table 3 shows the certificate, as
well as the gold and generated explanation for a sample of the instance present in the datasets.
As we can see from the table, the explanation generated is not fully correct. In particular, the
error occurs in both cases on the obvious cases selection, where multiple causes are obvious
causes of the TUC, but the generated description was not able to identify one. In the first case
the explanation lead to an error for the selection of the UCOD, while in the second did not
influence the final result. In all the cases where the description was incorrect, we have noticed
that the terminology used was always consistent. The rules structure was correctly applied, and
the conditions used were always consistent with those of the certificate. The errors were mainly
for SP6 obvious causes and M1 special instructions, where categories were not recognized as
part of the rule. While those cases are not recognized, is most likely that they were not part of
the training set.</p>
    </sec>
    <sec id="sec-6">
      <title>6. Conclusions</title>
      <p>We have presented a system that is able to enhance the interpretability of a classification model
by generating explanations using as reference a rule-based system. The model was not only
able to generate appropriate explanations consistently (about 0.998 F1 score), but it was able to
correctly learn and use the structure of the rules and their terminology. The proposed model has
the ability to predict the UCOD, since the last sentence always specifies the category suggested;
this feature is very important since the rule-based system used to learn the explanations do not
reach the same accuracy of the classification model, and the suggested UCOD of the explanation
can be used to crosscheck the classification model UCOD to understand when the explanation is
likely to be incorrect. Some limitations of this preliminary experiment comes from the dataset
used. In fact, for this experiment, we have used a dataset as big as the preliminary evaluation of
the classification model, while the certificates used needed to be encoded as text as a reverse
encoding from coded conditions. Those limitations come from a lack of certificates with natural
textual conditions, which were still suficient to evaluate the feasibility of this approach.</p>
      <p>
        This paper opens for plenty of future work. More in detail, for future experimentation and
evaluation, we plan to retrieve and use a dataset with original textual conditions, that is where
plain text is available natively. Furthermore, we plan to evaluate and compare the generated
explanations with the death certificates for which DORIS fails, that is where DORIS is not able
to correctly predict the underlying cause of death; extrapolating from the results discussed in
this paper, we expect those explanation to be well structured, with an incorrect rule applied,
but this needs to be proven with further experimentation. We also plan to use an extend the
dataset for the training and evaluation phases by employing the full dataset used by the model
that selects the UCOD [
        <xref ref-type="bibr" rid="ref11">11</xref>
        ], also by including the cases originated after 2017, where recent cases
of COVID-19 may have changed the data distribution and patterns. Finally, we plan to extend
the training dataset for generating the explanations with hand written explanations generated
by trained experts to be able to compare and support cases where DORIS is not able to correctly
identify the UCOD.
Male, 69y old: Cardiac
arrest, unspecified due
to Atherosclerotic heart
disease due to Essential
(primary) hypertension
in the context of
(Respiratory failure,
unspecified or Subarachnoid
haemorrhage,
unspecified or Subdural
haemorrhage
(acute)(nontraumatic) or Epilepsy,
unspecified or Immobility).
code: I251
Male, 54y old:
Cardiomegaly due to
Atherosclerotic heart
disease due to Myocarditis,
unspecified due to
Generalized and unspecified
atherosclerosis in the
context of
Atherosclerotic cardiovascular
disease, so described.
code: I251
      </p>
      <p>Explanation</p>
      <p>Generated Explanation
Unspecified dementia is the first Unspecified dementia is the
condition reported on the single first condition reported on the
used line, which is selected as single used line, which is selected
the new tentative starting point. as the new tentative starting
Other specified degenerative dis- point. Alzheimer disease,
uneases of nervous system,Alzheimer specified,Cerebrovascular disease,
disease, unspecified,Cerebrovascu- unspecified (HIV) is an obvious
lar disease, unspecified (HIV) is an cause of the current TUC
Unspeciobvious cause of the current TUC fied dementia (Infectious Diseases).</p>
      <p>Unspecified dementia (Infectious Alzheimer disease, unspecified is
Diseases). Other specified degen- the underlying cause of death.
erative diseases of nervous system
is the underlying cause of death.</p>
      <p>Essential (primary) hypertension
present on last used line causes
all the conditions reported on the
lines above, which is selected as the
new tentative starting point (TUC).</p>
      <p>Special instruction apply where
Essential (primary) hypertension is
with mention of Atherosclerotic
heart disease,Subarachnoid
haemorrhage, unspecified,Nontraumatic
subdural haemorrhage.
Atherosclerotic heart disease is selected using
priority order. Atherosclerotic heart
disease is the underlying cause of
death.</p>
      <p>Essential (primary) hypertension
present on last used line causes
all the conditions reported on the
lines above, which is selected as
the new tentative starting point
(TUC). Special instruction apply
where Essential (primary)
hypertension is with mention of
Atherosclerotic heart disease,Nontraumatic
subdural haemorrhage.
Atherosclerotic heart disease is selected using
priority order. Atherosclerotic heart
disease is the underlying cause of
death.</p>
      <p>Generalized and unspecified Generalized and unspecified
atherosclerosis present on last atherosclerosis present on last
used line causes all the conditions used line causes all the conditions
reported on the lines above, which reported on the lines above, which
is selected as the new tentative is selected as the new tentative
starting point (TUC). Special in- starting point (TUC). Special
instruction apply where Generalized struction apply where Generalized
and unspecified atherosclerosis is and unspecified atherosclerosis is
with mention of Atherosclerotic with mention of Atherosclerotic
heart disease,Myocarditis, unspeci- heart disease,Atherosclerotic
carfied,Atherosclerotic cardiovascular diovascular disease, so described.
disease, so described. Myocarditis, Atherosclerotic heart disease
unspecified is selected using prior- is selected using priority order.
ity order. Special instruction apply Atherosclerotic heart disease is the
where Myocarditis, unspecified is underlying cause of death.
with mention of Atherosclerotic
heart disease,Atherosclerotic
cardiovascular disease, so described.</p>
      <p>Atherosclerotic heart disease
is selected using priority order.</p>
      <p>Atherosclerotic heart disease is the
underlying cause of death.
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//doi.org/10.1145/3236009. doi:10.1145/3236009.
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