The integration of artificial intelligence (AI) and machine learning (ML) in precision oncology is transforming the diagnosis and treatment of cancer. These advanced computational techniques enhance the ability to analyse complex biological data, leading to improved patient outcomes. AI-driven models assist oncologists by refining diagnosis, optimising treatment selection and identifying predictive biomarkers. The ability of AI to process multi-dimensional data, including genomic, radiomic and pathological information, enables a deeper understanding of tumour biology. Despite the promise of AI in oncology, challenges related to data quality, algorithm reliability and clinical integration must be addressed to fully leverage its potential. Overcoming these obstacles will be critical in ensuring AI’s safe and effective application in clinical settings.

 

AI-Driven Diagnosis and Biomarker Identification

AI is crucial in cancer diagnostics, analysing large-scale data from medical imaging, pathology slides and genomic sequencing. Deep learning models, especially convolutional neural networks, excel in detecting tumour-specific mutations and classifying cancer subtypes from histopathology images. They can predict biological characteristics from H&E-stained whole-slide images, revealing molecular alterations that typically require additional testing.

 

AI enhances immunohistochemistry (IHC) scoring, which is crucial for treatment decisions, by offering standardised and reproducible assessments, minimising variability and inconsistencies. Models trained on IHC biomarkers, like PD-L1, show high concordance with pathologists, increasing diagnostic efficiency and aiding patient stratification for targeted therapies.

 

Moreover, AI supports digital pathology by processing multi-modal data, including radiomics and genomic sequencing. AI-driven radiomic analysis extracts relevant tumour characteristics from imaging, facilitating better tumour classification and personalised treatment strategies.

 

AI in Treatment Optimisation and Drug Development

Machine learning models play a crucial role in precision oncology by identifying optimal treatment strategies tailored to a patient's unique tumour profile. These AI-driven approaches analyse clinical, molecular and imaging data to predict responses to therapies like immunotherapy and targeted treatments. In immuno-oncology, AI helps select patients who are most likely to benefit from immune checkpoint inhibitors and CAR-T therapies, enhancing treatment selection and improving outcomes while reducing toxicity.

 

AI also aids the development of new therapies by generating synthetic data, such as digital twins, to simulate treatment responses and accelerate clinical trials. These models can discover novel biomarkers and drug targets by processing large datasets. AI-assisted clinical trial designs enhance patient recruitment by predicting eligibility through multi-omic profiling.

 

However, challenges remain in ensuring the generalisability of predictive models, as many depend on training datasets that may not represent diverse patient populations. Standardising methodologies and validating models across independent cohorts are vital for improving their reliability and application in real-world settings.

 

Overcoming Challenges and Future Directions

AI and ML show great promise in precision oncology, but several challenges hinder their widespread clinical adoption. Key issues include data quality and standardisation, as variability in imaging, genomic sequencing and health records can impact model performance. Establishing standardised data collection frameworks is crucial.

 

Data sharing is another challenge due to privacy regulations and proprietary concerns, necessitating collaboration among research institutions, healthcare providers and industry. Additionally, improving the interpretability of AI models is essential, as many deep learning algorithms are "black boxes," making it hard for clinicians to understand predictions.

 

Seamless integration of AI into clinical workflows is vital, with AI tools intended to support, not replace, human expertise. Training healthcare professionals in AI literacy and fostering collaboration between data scientists and medical practitioners will help maximise benefits. Regulatory bodies must also establish guidelines for the validation and approval of AI tools to ensure safety and efficacy.

 

AI and ML are revolutionising precision oncology by offering advanced tools for cancer diagnosis, treatment optimisation and drug discovery. These technologies have the potential to enhance patient care by enabling more precise and personalised approaches to cancer management. AI-driven models can support clinicians in making data-driven decisions, improving diagnostic accuracy and refining treatment selection based on molecular and clinical insights. While the integration of AI in oncology presents challenges related to data standardisation, model validation and regulatory approval, ongoing research and technological advancements are paving the way for its widespread adoption. Addressing these hurdles will be essential in unlocking AI’s full potential, ensuring its safe and effective application in clinical practice. By fostering collaboration between clinicians, data scientists and regulatory bodies, AI can be harnessed to drive more personalised and effective cancer treatments, ultimately improving outcomes for patients worldwide.

 

Source: npj Digital Medicine

Image Credit: iStock


References:

Fountzilas E, Pearce T, Baysal MA et al. (2025) Convergence of evolving artificial intelligence and machine learning techniques in precision oncology. npj Digit. Med., 8:75.



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