Application of Machine Learning for Early Disease Diagnosis in Healthcare
DOI:
https://doi.org/10.48047/bp9aw408Keywords:
Early Disease Diagnosis, Medical Imaging, Predictive Analysis, Machine Learning, Algorithmic Bias.Abstract
Machine Learning (ML) is transforming the healthcare field by allowing early detection of diseases with unprecedented accuracy and efficiency by utilizing a variety of data types, including medical imaging, genetic sequences, electronic health records, and physiological data to identify subtle trends and determine the presence of diseases. This paper gives an extensive overview of the application of ML in early detection of critical conditions such as diabetes, cancer, cardiovascular disease, Alzheimer's disease, and sepsis. We explain the entire process, encompassing data collection and preprocessing, model training and validation, and the eventual implementation into a clinical setting. Other models, like convolutional neural networks in radiological image classification and recurrent neural networks in time-series pattern recognition, continue to perform better in terms of sensitivity and specificity than conventional diagnostic techniques. Experiments on the four innovative architectures, including CNN+LSTM Hybrid with an AUC of 0.93, XGBoost+DNN Ensemble at 0.91, Vision Transformer achieving 0.96, and Federated Learning at 0.89, demonstrate their excellent performance as a diagnostic tool. The Vision Transformer is superior in cardiovascular disease (0.976) and diabetes (0.970), whereas Federated Learning dominates in sepsis detection (0.878), recognizing the importance of privacy. Other notable contributions are a comparative paper on model performance and computational efficiency, where training time ranged between 14.2 and 22.8 hours, the application of ethical frameworks addressing bias mitigation and interpretability, but also a real-world validation that showed up to 18 percent performance degradation in community setting environments, informing how to scale deployment. ML holds the potential of an active, personalized, proactive healthcare system lessening diagnostic errors and disparities, yet necessitates interdisciplinary cooperation to mitigate bias, transparency, and regulatory implications yielding equitable, effective clinical integration to global health overall better outcomes.
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References
A. Nayyar, L. Gadhavi, and N. Zaman, “Machine learning in healthcare: review, opportunities and challenges,” Machine Learning and the Internet of Medical Things in Healthcare, pp. 23–45, Jan. 2021, doi: 10.1016/B978-0-12-821229-5.00011-2.
S. Patil et al., “Artificial Intelligence in the Diagnosis of Oral Diseases: Applications and Pitfalls,” Diagnostics 2022, Vol. 12, Page 1029, vol. 12, no. 5, p. 1029, Apr. 2022, doi: 10.3390/DIAGNOSTICS12051029.
M. M. Ahsan, S. A. Luna, and Z. Siddique, “Machine-Learning-Based Disease Diagnosis: A Comprehensive Review,” Healthcare 2022, Vol. 10, Page 541, vol. 10, no. 3, p. 541, Mar. 2022, doi: 10.3390/HEALTHCARE10030541.
P. Usán Supervía et al., “Teaching, Learning and Assessing Anatomy with Artificial Intelligence: The Road to a Better Future,” International Journal of Environmental Research and Public Health 2022, Vol. 19, Page 14209, vol. 19, no. 21, p. 14209, Oct. 2022, doi: 10.3390/IJERPH192114209.
V. Chang, V. R. Bhavani, A. Q. Xu, and M. A. Hossain, “An artificial intelligence model for heart disease detection using machine learning algorithms,” Healthcare Analytics, vol. 2, p. 100016, Nov. 2022, doi: 10.1016/J.HEALTH.2022.100016.
T. R. Ramesh, U. K. Lilhore, M. Poongodi, S. Simaiya, A. Kaur, and M. Hamdi, “PREDICTIVE ANALYSIS OF HEART DISEASES WITH MACHINE LEARNING APPROACHES,” Malaysian Journal of Computer Science, vol. 2022, no. Special Issue 1, pp. 132–148, Mar. 2022, doi: 10.22452/MJCS.SP2022NO1.10.
B. Ihnaini et al., “A Smart Healthcare Recommendation System for Multidisciplinary Diabetes Patients with Data Fusion Based on Deep Ensemble Learning,” Comput Intell Neurosci, vol. 2021, no. 1, p. 4243700, Jan. 2021, doi: 10.1155/2021/4243700.
J. Ramesh, R. Aburukba, and A. Sagahyroon, “A remote healthcare monitoring framework for diabetes prediction using machine learning,” Healthc Technol Lett, vol. 8, no. 3, pp. 45–57, Jun. 2021, doi: 10.1049/HTL2.12010.
K. Das et al., “Machine Learning and Its Application in Skin Cancer,” International Journal of Environmental Research and Public Health 2021, Vol. 18, Page 13409, vol. 18, no. 24, p. 13409, Dec. 2021, doi: 10.3390/IJERPH182413409.
N. Yamanakkanavar, J. Y. Choi, and B. Lee, “MRI Segmentation and Classification of Human Brain Using Deep Learning for Diagnosis of Alzheimer’s Disease: A Survey,” Sensors 2020, Vol. 20, Page 3243, vol. 20, no. 11, p. 3243, Jun. 2020, doi: 10.3390/S20113243.
A. V. L. N. Sujith, G. S. Sajja, V. Mahalakshmi, S. Nuhmani, and B. Prasanalakshmi, “Systematic review of smart health monitoring using deep learning and Artificial intelligence,” Neuroscience Informatics, vol. 2, no. 3, p. 100028, Sep. 2022, doi: 10.1016/J.NEURI.2021.100028.
E. E. Lee et al., “Artificial Intelligence for Mental Health Care: Clinical Applications, Barriers, Facilitators, and Artificial Wisdom,” Biol Psychiatry Cogn Neurosci Neuroimaging, vol. 6, no. 9, pp. 856–864, Sep. 2021, doi: 10.1016/J.BPSC.2021.02.001.
J. Xu et al., “Translating cancer genomics into precision medicine with artificial intelligence: applications, challenges and future perspectives,” Hum Genet, vol. 138, no. 2, pp. 109–124, Feb. 2019, doi: 10.1007/S00439-019-01970-5/TABLES/1.
Y. Kumar, S. Gupta, R. Singla, and Y. C. Hu, “A Systematic Review of Artificial Intelligence Techniques in Cancer Prediction and Diagnosis,” Archives of Computational Methods in Engineering, vol. 29, no. 4, pp. 2043–2070, Jun. 2022, doi: 10.1007/S11831-021-09648-W/METRICS.
A. Rehman, S. Abbas, M. A. Khan, T. M. Ghazal, K. M. Adnan, and A. Mosavi, “A secure healthcare 5.0 system based on blockchain technology entangled with federated learning technique,” Comput Biol Med, vol. 150, p. 106019, Nov. 2022, doi: 10.1016/J.COMPBIOMED.2022.106019.
K. A. Tran, O. Kondrashova, A. Bradley, E. D. Williams, J. V Pearson, and N. Waddell, “Deep learning in cancer diagnosis, prognosis and treatment selection”, doi: 10.1186/s13073-021-00968-x.
İ. D. Kocakoç, “The Role of Artificial Intelligence in Health Care,” Accounting, Finance, Sustainability, Governance and Fraud, pp. 189–206, 2022, doi: 10.1007/978-981-16-8997-0_11.
S. Uddin, A. Khan, M. E. Hossain, and M. A. Moni, “Comparing different supervised machine learning algorithms for disease prediction,” BMC Med Inform Decis Mak, vol. 19, no. 1, pp. 1–16, Dec. 2019, doi: 10.1186/S12911-019-1004-8/FIGURES/12.
H. Habehh and S. Gohel, “Machine Learning in Healthcare,” Curr Genomics, vol. 22, no. 4, pp. 291–300, Jul. 2021, doi: 10.2174/1389202922666210705124359/CITE/REFWORKS.
S. Mall, A. Srivastava, B. D. Mazumdar, M. Mishra, S. L. Bangare, and A. Deepak, “Implementation of machine learning techniques for disease diagnosis,” Mater Today Proc, vol. 51, pp. 2198–2201, Jan. 2022, doi: 10.1016/J.MATPR.2021.11.274.
R. Vincent et al., “IoT-Cloud-Based Smart Healthcare Monitoring System for Heart Disease Prediction via Deep Learning,” Electronics 2022, Vol. 11, Page 2292, vol. 11, no. 15, p. 2292, Jul. 2022, doi: 10.3390/ELECTRONICS11152292.
S. S. Kute, A. V. Shreyas Madhav, S. Kumari, and S. U. Aswathy, “Machine Learning–Based Disease Diagnosis and Prediction for E-Healthcare System,” Advanced Analytics and Deep Learning Models, pp. 127–147, May 2022, doi: 10.1002/9781119792437.CH6.
M. Javaid, A. Haleem, R. Pratap Singh, R. Suman, and S. Rab, “Significance of machine learning in healthcare: Features, pillars and applications,” International Journal of Intelligent Networks, vol. 3, pp. 58–73, Jan. 2022, doi: 10.1016/J.IJIN.2022.05.002.
M. (Moazzam) Siddiq, “Use of Machine Learning to Predict Patient Developing A Disease or Condition for Early Diagnose,” International Journal of Multidisciplinary Sciences and Arts, vol. 1, no. 1, p. 591841, Jun. 2022, doi: 10.47709/IJMDSA.V1I1.2271.
N. G. Maity and S. Das, “Machine learning for improved diagnosis and prognosis in healthcare,” IEEE Aerospace Conference Proceedings, Jun. 2017, doi: 10.1109/AERO.2017.7943950.
M. J. Iqbal et al., “Clinical applications of artificial intelligence and machine learning in cancer diagnosis: looking into the future,” Cancer Cell Int, vol. 21, no. 1, pp. 1–11, Dec. 2021, doi: 10.1186/S12935-021-01981-1/FIGURES/4.
T. J. Saleem and M. A. Chishti, “Exploring the Applications of Machine Learning in Healthcare,” International Journal of Sensors, Wireless Communications and Control, vol. 10, no. 4, pp. 458–472, Dec. 2019, doi: 10.2174/2210327910666191220103417/CITE/REFWORKS.
P. Singh, N. Singh, K. K. Singh, and A. Singh, “Diagnosing of disease using machine learning,” Machine Learning and the Internet of Medical Things in Healthcare, pp. 89–111, Jan. 2021, doi: 10.1016/B978-0-12-821229-5.00003-3.
F. Jiang et al., “Artificial intelligence in healthcare: past, present and future,” Stroke Vasc Neurol, vol. 2, no. 4, pp. 230–243, Dec. 2017, doi: 10.1136/SVN-2017-000101.
L. D. Jones, D. Golan, S. A. Hanna, and M. Ramachandran, “Artificial intelligence, machine learning and the evolution of healthcare: A bright future or cause for concern?,” Bone Joint Res, vol. 7, no. 3, pp. 223–225, Mar. 2018, doi: 10.1302/2046-3758.73.BJR-2017-0147.R1/LETTERTOEDITOR.
T. A. A. Abdullah, M. S. M. Zahid, and W. Ali, “A Review of Interpretable ML in Healthcare: Taxonomy, Applications, Challenges, and Future Directions,” Symmetry 2021, Vol. 13, Page 2439, vol. 13, no. 12, p. 2439, Dec. 2021, doi: 10.3390/SYM13122439.
K. Kumar, K. Chaudhury, and S. L. Tripathi, “Future of Machine Learning ( ML ) and Deep Learning ( DL ) in Healthcare Monitoring System,” Machine Learning Algorithms for Signal and Image Processing, pp. 293–313, Nov. 2022, doi: 10.1002/9781119861850.CH17.
F. Mulisa, “When Does a Researcher Choose a Quantitative, Qualitative, or Mixed Research Approach?,” Interchange, vol. 53, no. 1, pp. 113–131, Mar. 2022, doi: 10.1007/S10780-021-09447-Z/METRICS.
Z. M. Yaseen, “An insight into machine learning models era in simulating soil, water bodies and adsorption heavy metals: Review, challenges and solutions,” Chemosphere, vol. 277, p. 130126, Aug. 2021, doi: 10.1016/J.CHEMOSPHERE.2021.130126.
A. Zhang, L. Xing, J. Zou, and J. C. Wu, “Shifting machine learning for healthcare from development to deployment and from models to data,” Nat Biomed Eng, vol. 6, no. 12, pp. 1330–1345, Dec. 2022, doi: 10.1038/S41551-022-00898-Y;SUBJMETA.
P. G. Asteris, A. D. Skentou, A. Bardhan, P. Samui, and K. Pilakoutas, “Predicting concrete compressive strength using hybrid ensembling of surrogate machine learning models,” Cem Concr Res, vol. 145, p. 106449, Jul. 2021, doi: 10.1016/J.CEMCONRES.2021.106449.
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