Foundations of Machine Learning and Its Applications in Healthcare: A Review of Methods, Clinical Impact, and Open Challenges

Authors

DOI:

https://doi.org/10.65021/mwsj.v2.i1.35

Keywords:

clinical decision support, deep learning, electronic health records, healthcare, machine learning

Abstract

Healthcare systems generate large volumes of imaging, laboratory, genomic, medication, sensor, and narrative clinical data. Machine learning provides methods for learning patterns from these data and converting them into predictions that may support diagnosis, prognosis, workflow prioritization, and biomedical discovery. This narrative review explains the principles of machine learning for healthcare readers and connects them to major clinical applications. It begins with an introduction to supervised, unsupervised, semi-supervised, and reinforcement learning, followed by common algorithms, deep-learning architectures, model training, generalization, evaluation metrics, and calibration. The review then examines medical imaging, electronic health records analytics, risk prediction, decision support, genomics, drug discovery, drug-drug interaction prediction, and clinical natural language processing. Evidence from landmark studies is discussed alongside recent guidance on external validation, reporting, foundation models, federated learning, explainability, and implementation. The review concludes that machine learning has achieved clinically meaningful performance in selected tasks, but safe adoption requires prospective testing, fairness assessment, privacy protection, workflow integration, and human oversight.

Downloads

Download data is not yet available.

References

1. Ardila, D., Kiraly, A. P., Bharadwaj, S., Choi, B., Reicher, J. J., Peng, L., Tse, D., Etemadi, M., Ye, W., Corrado, G., Naidich, D. P., & Shetty, S. (2019). End-to-end lung cancer screening with three-dimensional deep learning on low-dose chest computed tomography. Nature Medicine, 25(6), 954-961. DOI: 10.1038/s41591-019-0447-x

2. Asgari, E., Chatterjee, S., Culpin, R., et al. (2025). A framework to assess clinical safety and hallucination rates of LLMs for medical text summarisation. npj Digital Medicine. DOI: 10.1038/s41746-025-01670-7

3. Breiman, L. (2001). Random forests. Machine Learning, 45(1), 5-32. DOI: 10.1023/A:1010933404324

4. Chen, J. H., & Asch, S. M. (2017). Machine learning and prediction in medicine - beyond the peak of inflated expectations. New England Journal of Medicine, 376(26), 2507-2509. DOI: 10.1056/NEJMp1702071

5. Chen, T., & Guestrin, C. (2016). XGBoost: A scalable tree boosting system. In Proceedings of the 22nd ACM SIGKDD International Conference on Knowledge Discovery and Data Mining (pp. 785-794). ACM. DOI: 10.1145/2939672.2939785

6. Ching, T., Himmelstein, D. S., Beaulieu-Jones, B. K., Kalinin, A. A., Do, B. T., Way, G. P., Ferrero, E., Agapow, P.-M., Zietz, M., Hoffman, M. M., Xie, W., Rosen, G. L., Lengerich, B. J., Israeli, J., Lanchantin, J., Woloszynek, S., Carpenter, A. E., Shrikumar, A., Xu, J., ... Greene, C. S. (2018). Opportunities and obstacles for deep learning in biology and medicine. Journal of the Royal Society Interface, 15(141), 20170387. DOI: 10.1098/rsif.2017.0387

7. Collins, G. S., Dhiman, P., Ma, J., Schlussel, M. M., Archer, L., Van Calster, B., ... Moons, K. G. M. (2024). TRIPOD+AI statement: Updated guidance for reporting clinical prediction models that use regression or machine learning methods. BMJ, 385, e078378. DOI: 10.1136/bmj-2023-078378

8. Cortes, C., & Vapnik, V. (1995). Support-vector networks. Machine Learning, 20(3), 273-297. DOI: 10.1007/BF00994018

9. Devlin, J., Chang, M.-W., Lee, K., & Toutanova, K. (2019). BERT: Pre-training of deep bidirectional transformers for language understanding. In Proceedings of NAACL-HLT 2019 (pp. 4171-4186). Association for Computational Linguistics. DOI: 10.18653/v1/N19-1423

10. Esteva, A., Kuprel, B., Novoa, R. A., Ko, J., Swetter, S. M., Blau, H. M., & Thrun, S. (2017). Dermatologist-level classification of skin cancer with deep neural networks. Nature, 542(7639), 115-118. DOI: 10.1038/nature21056

11. Gulshan, V., Peng, L., Coram, M., Stumpe, M. C., Wu, D., Narayanaswamy, A., Venugopalan, S., Widner, K., Madams, T., Cuadros, J., Kim, R., Raman, R., Nelson, P. C., Mega, J. L., & Webster, D. R. (2016). Development and validation of a deep learning algorithm for detection of diabetic retinopathy in retinal fundus photographs. JAMA, 316(22), 2402-2410. DOI: 10.1001/jama.2016.17216

12. Hager, P., Jungmann, F., Holland, R., Bhagat, K., Hubrecht, I., Knauer, M., Vielhauer, J., Makowski, M., Braren, R., Kaissis, G., Rueckert, D., & Kather, J. N. (2024). Evaluation and mitigation of the limitations of large language models in clinical decision-making. Nature Medicine. DOI: 10.1038/s41591-024-03097-1

13. Hannun, A. Y., Rajpurkar, P., Haghpanahi, M., Tison, G. H., Bourn, C., Turakhia, M. P., & Ng, A. Y. (2019). Cardiologist-level arrhythmia detection and classification in ambulatory electrocardiograms using a deep neural network. Nature Medicine, 25(1), 65-69. DOI: 10.1038/s41591-018-0268-3

14. He, K., Zhang, X., Ren, S., & Sun, J. (2016). Deep residual learning for image recognition. In Proceedings of the IEEE Conference on Computer Vision and Pattern Recognition (pp. 770-778). IEEE. DOI: 10.1109/CVPR.2016.90

15. Hochreiter, S., & Schmidhuber, J. (1997). Long short-term memory. Neural Computation, 9(8), 1735-1780. DOI: 10.1162/neco.1997.9.8.1735

16. Jumper, J., Evans, R., Pritzel, A., Green, T., Figurnov, M., Ronneberger, O., Tunyasuvunakool, K., Bates, R., Zidek, A., Potapenko, A., Bridgland, A., Meyer, C., Kohl, S. A. A., Ballard, A. J., Cowie, A., Romera-Paredes, B., Nikolov, S., Jain, R., Adler, J., ... Hassabis, D. (2021). Highly accurate protein structure prediction with AlphaFold. Nature, 596(7873), 583-589. DOI: 10.1038/s41586-021-03819-2

17. Kermany, D. S., Goldbaum, M., Cai, W., Valentim, C. C. S., Liang, H., Baxter, S. L., McKeown, A., Yang, G., Wu, X., Yan, F., Dong, J., Prasadha, M. K., Pei, J., Ting, M. Y. L., Zhu, J., Li, C., Hewett, S., Dong, J., Ziyar, I., ... Zhang, K. (2018). Identifying medical diagnoses and treatable diseases by image-based deep learning. Cell, 172(5), 1122-1131.e9. DOI: 10.1016/j.cell.2018.02.010

18. Komorowski, M., Celi, L. A., Badawi, O., Gordon, A. C., & Faisal, A. A. (2018). The artificial intelligence clinician learns optimal treatment strategies for sepsis in intensive care. Nature Medicine, 24(11), 1716-1720. DOI: 10.1038/s41591-018-0213-5

19. Krizhevsky, A., Sutskever, I., & Hinton, G. E. (2017). ImageNet classification with deep convolutional neural networks. Communications of the ACM, 60(6), 84-90. DOI: 10.1145/3065386

20. LeCun, Y., Bengio, Y., & Hinton, G. (2015). Deep learning. Nature, 521(7553), 436-444. DOI: 10.1038/nature14539

21. Lee, J., Yoon, W., Kim, S., Kim, D., Kim, S., So, C. H., & Kang, J. (2020). BioBERT: A pre-trained biomedical language representation model for biomedical text mining. Bioinformatics, 36(4), 1234-1240. DOI: 10.1093/bioinformatics/btz682

22. Litjens, G., Kooi, T., Bejnordi, B. E., Setio, A. A. A., Ciompi, F., Ghafoorian, M., van der Laak, J. A. W. M., van Ginneken, B., & Sanchez, C. I. (2017). A survey on deep learning in medical image analysis. Medical Image Analysis, 42, 60-88. DOI: 10.1016/j.media.2017.07.005

23. Liu, X., Cruz Rivera, S., Moher, D., Calvert, M. J., Denniston, A. K., & SPIRIT-AI and CONSORT-AI Working Group. (2020). Reporting guidelines for clinical trial reports for interventions involving artificial intelligence: The CONSORT-AI extension. Nature Medicine, 26, 1364-1374. DOI: 10.1038/s41591-020-1034-x

24. Marqas, R. B., Simo, Z., Mousa, A., Ozyurt, F., & Iantovics, L. B. (2026). Advancing drug-drug interaction prediction with biomimetic improvements: Leveraging the latest artificial intelligence techniques to guide researchers in the field. Biomimetics, 11(1), 39. DOI: 10.3390/biomimetics11010039

25. McKinney, S. M., Sieniek, M., Godbole, V., Godwin, J., Antropova, N., Ashrafian, H., Back, T., Chesus, M., Corrado, G. S., Darzi, A., Etemadi, M., Garcia-Vicente, F., Gilbert, F. J., Halling-Brown, M., Hassabis, D., Jansen, S., Karthikesalingam, A., Kelly, C. J., King, D., ... Shetty, S. (2020). International evaluation of an AI system for breast cancer screening. Nature, 577(7788), 89-94. DOI: 10.1038/s41586-019-1799-6

26. Moons, K. G. M., Collins, G. S., Ma, J., Dhiman, P., Reitsma, J. B., Riley, R. D., ... Wolff, R. F. (2025). PROBAST+AI: An updated quality, risk of bias, and applicability tool for prediction models that use regression or machine learning methods. BMJ, 388, e082505. DOI: 10.1136/bmj-2024-082505

27. Obermeyer, Z., & Emanuel, E. J. (2016). Predicting the future - big data, machine learning, and clinical medicine. New England Journal of Medicine, 375(13), 1216-1219. DOI: 10.1056/NEJMp1606181

28. Rajkomar, A., Oren, E., Chen, K., Dai, A. M., Hajaj, N., Hardt, M., Liu, P. J., Liu, X., Marcus, J., Sun, M., Sundberg, P., Yee, H., Zhang, K., Zhang, Y., Flores, G., Duggan, G. E., Irvine, J., Le, Q., Litsch, K., ... Dean, J. (2018). Scalable and accurate deep learning with electronic health records. npj Digital Medicine, 1, 18. DOI: 10.1038/s41746-018-0029-1

29. Ribeiro, M. T., Singh, S., & Guestrin, C. (2016). "Why should I trust you?": Explaining the predictions of any classifier. In Proceedings of the 22nd ACM SIGKDD International Conference on Knowledge Discovery and Data Mining (pp. 1135-1144). ACM. DOI: 10.1145/2939672.2939778

30. Rieke, N., Hancox, J., Li, W., Milletari, F., Roth, H. R., Albarqouni, S., Bakas, S., Galtier, M. N., Landman, B. A., Maier-Hein, K., Ourselin, S., Sheller, M., Summers, R. M., Trask, A., Xu, D., Baust, M., & Cardoso, M. J. (2020). The future of digital health with federated learning. npj Digital Medicine, 3, 119. DOI: 10.1038/s41746-020-00323-1

31. Ronneberger, O., Fischer, P., & Brox, T. (2015). U-Net: Convolutional networks for biomedical image segmentation. In Medical Image Computing and Computer-Assisted Intervention - MICCAI 2015 (Lecture Notes in Computer Science, Vol. 9351, pp. 234-241). Springer. DOI: 10.1007/978-3-319-24574-4_28

32. Shickel, B., Tighe, P. J., Bihorac, A., & Rashidi, P. (2018). Deep EHR: A survey of recent advances in deep learning techniques for electronic health record analysis. IEEE Journal of Biomedical and Health Informatics, 22(5), 1589-1604. DOI: 10.1109/JBHI.2017.2767063

33. Stokes, J. M., Yang, K., Swanson, K., Jin, W., Cubillos-Ruiz, A., Donghia, N. M., MacNair, C. R., French, S., Carfrae, L. A., Bloom-Ackermann, Z., Tran, V. M., Chiappino-Pepe, A., Badran, A. H., Andrews, I. W., Chory, E. J., Church, G. M., Brown, E. D., Jaakkola, T. S., Barzilay, R., & Collins, J. J. (2020). A deep learning approach to antibiotic discovery. Cell, 180(4), 688-702.e13. DOI: 10.1016/j.cell.2020.01.021

34. Topol, E. J. (2019). High-performance medicine: The convergence of human and artificial intelligence. Nature Medicine, 25(1), 44-56. DOI: 10.1038/s41591-018-0300-7

35. Vaswani, A., Shazeer, N., Parmar, N., Uszkoreit, J., Jones, L., Gomez, A. N., Kaiser, L., & Polosukhin, I. (2017). Attention is all you need. In Advances in Neural Information Processing Systems 30 (pp. 5998-6008). Curran Associates. DOI: 10.5555/3295222.3295349

36. Yu, K.-H., Beam, A. L., & Kohane, I. S. (2018). Artificial intelligence in healthcare. Nature Biomedical Engineering, 2(10), 719-731. DOI: 10.1038/s41551-018-0305-z

37. Yurdem, B., Kuzlu, M., Gullu, M. K., Catak, F. O., & Tabassum, M. (2024). Federated learning: Overview, strategies, applications, tools and future directions. Heliyon, 10, e38137. DOI: 10.1016/j.heliyon.2024.e38137

Downloads

Published

2026-05-31

Issue

Section

Articles

How to Cite

Foundations of Machine Learning and Its Applications in Healthcare: A Review of Methods, Clinical Impact, and Open Challenges. (2026). Milky Way Scientific Journal, 2(1), 128-140. https://doi.org/10.65021/mwsj.v2.i1.35