TSP CMC 14604
TSP CMC 14604
DOI:10.32604/cmc.2021.014604
Review
1
Lovely Professional University, Jalandhar, 144411, India
2
Department of Information Systems, Faculty of Computing and Information Technology in Rabigh,
King Abdulaziz University, Jeddah, 21589, Saudi Arabia
3
Software Department, Sejong University, Seoul, 05006, Korea
4
Department of Information and Communication Engineering, Yeungnam University, Gyeongsan, 38541, Korea
5
Department of Computing and Mathematics, Manchester Metropolitan University, Manchester, M15 6BH, UK
*
Corresponding Author: Oh-Young Song. Email: [email protected]
Received: 02 October 2020; Accepted: 20 October 2020
1 Introduction
Diagnosis is a way to classify medicines that are fundamental to how a medicine performs
its part in society. It is central to the medical system. It organizes disease: defining care choices,
This work is licensed under a Creative Commons Attribution 4.0 International License,
which permits unrestricted use, distribution, and reproduction in any medium, provided
the original work is properly cited.
108 CMC, 2021, vol.67, no.1
forecasting results, and offering an informative mechanism [1]. Appropriate and effective treatment
usually involves a thorough diagnosis. The accompanying improvements in diagnostic testing and
imaging have certainly improved the entire process of diagnosis. But the human method of sci-
entific judgment leading to correct diagnosis remains key to superior quality and healthy medical
services even in this era of rapid technical transition [2]. However, the diagnostic error that harms
patient does happen frequently. Generally, multiple factors give rise to diagnostic errors, usually
including both perceptual and system-related causes. Certain common factors involve misjudging
the significance of observations, misinterpretation, errors originating from heuristics usage, and
errors in judgment, particularly when diagnostic hypotheses are developed and assessed [3–5].
Since treatment options are becoming efficient and expensive, the health and financial risk of
misdiagnosing an easily curable illness is significantly greater. Thus, there is a loss in improved
patient care [6].
These diagnostic errors could be minimized using techniques like fuzzy logic [7], or machine
learning (ML) and thus could improve healthcare services. The kind of analytics a clinician can
get using ML, at the time of patient treatment, can provide them with more knowledge and, thus,
better care [8]. ML tackles the concern of how these systems can be designed that develop with
experience continuously. It is known as one of the fastest-growing technical disciplines of today,
standing at the junction of computing and analytics and at the heart of artificial intelligence (AI)
and data science [9]. Till today, the primary winners of the 21st-century boom in the development
of big data, ML, and data science are markets that have been able to obtain such data and employ
the workers needed to turn their products. The algorithms built in and around these markets
provide considerable potential around improving research in medical and clinical care, particularly
provided that clinicians are widely using electronic health records (EHR). Diagnosis and outcome
estimation are two fields that gain from the use of ML techniques in the healthcare sector [10].
ML can not only handle varying raw data combinations and apply context weighting but also
measure the predictive capacity of any possible combination of factors for determining diagnostic
and prognostic components [11]. For example, assisting clinicians for ‘second opinion,’ as based
on clinical data, ML models can diagnose aphasia speech type [12], urinary tract infection [13],
or even predicting breast cancer [14], among others. The capability to process large data sets far
beyond limits of human abilities, and then to efficiently process that data into clinical knowledge
that enables doctors to prepare and deliver treatment, eventually leading to improved results,
lower medical costs, and enhanced patient satisfaction. ML has the capability and is currently
behind the creation of guidelines for precision medicines, treatment counsel, and disease diagno-
sis [8]. Utilization of these capabilities of ML can even be seen in healthcare internet of things
(H-IoT); to analyze and process massive amount of healthcare data generated through sen-
sors [15]. Therefore, extensive research in the context of treatment for specific diseases has been
conducted for its usefulness. Hence, the main aim of this paper is to analyze the experiments in
which ML approaches are used in relation to different medical fields and diseases to determine
their pattern and usefulness in the diagnosis of disease, through a systematic analysis. Tab. 1
represents the uniqueness of our paper using comparative analysis with other published review
papers in the medical domain. This paper provides in-depth analysis and results of the use of ML
in disease diagnosis. This research paper provides detailed analysis, covering all the major medical
domains to the best of our knowledge.
CMC, 2021, vol.67, no.1 109
Table 1: Comparative analysis with other published review articles in medical domain
Article Year Data types Technologies Medical Classification and In-depth analysis
considered considered domains summarization of of reviewed
considered existing work articles
• Imaging • Machine • Cardiology • Publication year • Frequency of
• Tabular learning • Critical care • Authors published articles
• Dermatology • Type of articles over the past years
• Endocrinology • Research objective • Distribution of
• Gastroenterology • Inputs and outputs academic papers by
• Hepatology • Problem and journal and
• Infectious research gaps conference type
• Nephrology • Findings and • Distribution of
• Neurology results papers by database
• Oncology providers
• Ophthalmology • Distribution of
• Pediatrics ML methods
• Periodontology applied in
• Pulmonology published articles
• Rheumatology • Distribution of
• Urology ML based on
• Vascular surgery clinical aspects
• Virology.
[16] 2019 X × × × ×
[17] 2020 × X × × ×
[18] 2017 X X × × ×
[19] 2020 X X × × ×
This article X X X X X
clinical, demographic, imaging, speech, patient historical data, or even heart sound [21–23]. The
next step involves processing. In this, the data is prepared, i.e., missing values, dimensionality
reduction, dealing with noisy data, and so on is made in this step [24,25]. Next, the target variable
and the predictors are identified. This data is then fed to one of the models for training. Once
the model is trained, it is then used for diagnosis.
2 Research Methodology
Methodology, in which the author finds relevant studies, selects and investigates those studies,
analyzes the data, and summarizes the findings to reach precise conclusions, is called systematic
review [37,38]. The use of evidence from dependable research to make healthcare decisions facili-
tates the use of best practices with lesser mistakes for clinical decision making. Hence, systematic
reviews, as well as clinical practice, are considered as the finest source of evidence [39]. The
following section includes literature search, study selection, and eligible papers, and extraction and
analyzation of data.
These databases were: IEEE, PubMed, Science Direct, SciPub, Springer Link, and Web of
Science. The articles searched were from the year 2015 up to now. Phrases and keywords such as
“disease diagnosis,” “disease diagnosis using machine learning,” “Chronic kidney diagnosis using
machine learning,” “Parkinson diagnosis using machine learning,” etc. were used to find relevant
articles. The articles were filtered based on relevancy and publication date. From our eligible
papers selected, the frequency and number of articles published by publishers are shown in Tab. 3.
Accordingly, with 22.73% Elsevier had the highest number of publications. BMC, Hindawi, IEEE,
Public Library of Science, and Springer stood second with 6.82% of publications. Nature was
ranked third with 4.55% of publications. In comparison, the rest of the publishers ranked fourth
with 2.27% of publications each.
Language, time and article qualities were considered for eligible papers. Thus we selected
papers written only in the English language and published from the year 2015 up to now. Our
research was focused on including all kinds of medical disciplines. However, diseases related to
animals and plants were excluded from it. According to our inclusion criteria, articles using
methods and techniques that improved the accuracy of disease diagnosis were included.
3 Results
The following section represents the findings and results of the analysis and synthesis of the
included articles. This result, which is the outcome of a systematic study of the papers, shows the
efficiency of applying ML in disease diagnosis. In the following section, the impact of ML and
its use in different medical disciplines is studied.
40% were published in the year 2019. Hence, it is evident that researchers are showing interest in
applying ML techniques in disease diagnosis.
ranked fifth with 6.82%. The classification and regression trees (CART) method was ranked
sixth with 4.55%. However, bayesian classifier (BC), decision tree (DT), and gradient boosting
(GB) were ranked last at 2.27%. This shows that these three ML methods are least preferred in
improving the disease diagnosis process.
Table 7: The frequency of applied machine learning methods related to disease diagnosis
Machine learning method Frequency Percent References
Artificial neural network (ANN) 3 6.82 [13,40,41]
Deep artificial neural network (deep ANN) 3 6.82 [42–44]
Bayesian classifier (BC) 1 2.27 [45]
Classification and regression tree (CART) 2 4.55 [46,47]
Convolution neural network (CNN) 7 15.9 [48–54]
Deep convolution neural network (deep CNN) 2 4.55 [55,56]
Decision tree (DT) 1 2.27 [57]
Gradient boosting (GB) 1 2.27 [58]
XGBoost 3 6.82 [59–61]
Random forest (RF) 5 11.36 [62–66]
Support vector machine (SVM) 10 22.73 [67–76]
Other/hybrid 6 13.64 [12,14,77–80]
Total 44 100.00
4 Discussion
We conducted this study to review the impact of ML in disease diagnosis. As per our
knowledge, fewer articles have been published that systematically analyze academic articles using
ML for disease diagnosis. Hence, the results and analysis of this study can be considered to assess
the impact of ML in the medical domain and its efficiency in improving the disease diagnosis. This
study considered the articles from the year 2015 to 2020. We identified 44 articles applying ML
methods to improve disease diagnosis over this period. One of the objectives of this study was to
determine which ML methods were used most by researchers for diagnosis, as the answer to this
question determines the efficiency of the methods. Hence, the articles were classified accordingly.
One of the ways in which articles were classified was based on the number of articles published
each year. According to this classification, we observed that the number of publications using
CMC, 2021, vol.67, no.1 119
ML for disease diagnosis has been rising over the years. We find that 4.55% of articles were
published in 2015, whereas in 2019, 40.91% of articles were published. This article was written in
mid-2020. Thus, we were able to retrieve a few articles from this year. This increase in the use of
ML methods is due to its efficiency in improving the accuracy and sensitivity of models to give
correct results.
We identified 12 different ML methods that were applied in our eligible papers. Although
we say that these 12 methods are mostly used ML methods for disease diagnosis, we limit our
findings only to medical diagnosis and do not generalize it. From our analysis, as presented in
Fig. 6, we find that researchers prefer SVM, CNN, and RF over other ML methods.
However, there is also an increase in the use of hybrid/other methods. This is mainly because
using the combination of various methods augments the efficiency of the model. Our study also
examined the articles from a medical discipline point of view, i.e., we classified the eligible articles
according to medical disciplines. This classification helped us understand which medical disciplines
were chosen largely. From this study, it was evident that cardiology and endocrinology had the
highest number of publications. This must be due to the fact that most of the diseases come
under these two disciplines and also because of the easily available large amount of data to carry
out the research. Moreover, going only by diseases explored, we find that variety of ML has been
applied to a variety of diseases. This shows the effectiveness of ML in improving the accuracy of
disease diagnosis. Thus, we could apply ML in any medical discipline and get the best results.
The findings of this investigation show which diseases and medical disciplines are mostly
targeted by researchers and which get neglected. We also find the efficiency of ML methods in
disease diagnosis. Therefore, this study could assist researchers in carrying out further work in the
medical domain.
5 Conclusion
The main goal of this systematic study was to review the articles using ML for disease
diagnosis and, thus, the competence of ML in improving the diagnosis of disease. For the
same, we retrieved articles from year 2015 to 2020. We identified six databases including IEEE,
PubMed, Science Direct, SciPub, Springer Link, and Web of Science. Further, we classified the
articles based on publisher and database. Through this study, we found which databases and
publishers are publishing the greatest number of articles relating to ML in disease diagnosis. We
also investigated the most used ML methods and their impact on disease diagnosis. Thus, we
find that all the studies have shown improvement in their results. We find that using ML not
only reduces the overall cost of the treatment and assist clinicians as ‘second opinion,’ but also
helps in early detection of diseases having complex structures and patterns. We also identified
12 mostly used ML methods in disease diagnosis and their effectiveness in improving the results.
We also investigated the medical disciplines using ML to a large extent. Different ML methods
were analyzed to understand their effectiveness in improving disease diagnosis.
Whatsoever, this study has certain limitations. The first limitation is that this systematic review
was carried on from year the 2015 to 2020, i.e., for a fixed duration. Also, it has to be noted
that this study was carried out up till mid of 2020. But still, through our results, we find that
there is growing acceptance and adoption of ML in disease diagnosis over the years. The second
limitation of our study is that we did not include articles using fuzzy logic or image processing
entirely. In the future, we can include these techniques to get a generalized view and idea of the
impact of each of these techniques in disease diagnosis. The third limitation of our study is that
our investigation focused solely on the diagnosis of diseases. We did not include articles relating
to prognosis or treatment path. In the future, the researchers can investigate the articles to study
the impact of ML in prognosis as well as for treatment path.
This study could provide basic knowledge for future studies. We excluded the articles written
in other languages and articles other than journals and conference papers. Thus, in the future we
can consider neglected resources for investigation as studies of these resources could be valuable.
Moreover, we could also identify and diagnose relationship among multiple diseases and diagnose
them simultaneously to benefit patients suffering from multiple diseases, investigate with more
parameters when building ML models, appropriate selection of models could decrease the time
CMC, 2021, vol.67, no.1 121
of implementation, e.g., CNN works better for image data, standardization of data for unbiased
results, using deep learning, and ensemble models for better results.
Acknowledgement: Authors wish to thank Dr. Dinesh Grover, Retired Professor, Punjab Agricul-
tural University, Punjab, India for his guidance in writing this review paper.
Funding Statement: This research was supported in part by the MSIT (Ministry of Science
and ICT), Korea, under the ITRC (Information Technology Research Center) support program
(IITP-2020-2016-0-00312) supervised by the IITP (Institute for Information & Communications
Technology Planning & Evaluation), and in part by the MSIP (Ministry of Science, ICT & Future
Planning), Korea, under the National Program for Excellence in SW) (2015-0-00938) supervised
by the IITP (Institute for Information & communications Technology Planning & Evaluation).
Conflicts of Interest: The authors declare that they have no conflicts of interest to report regarding
the present study.
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