A recent paper in Biology Methods & Protocols, published by Oxford University Press, suggests that artificial intelligence (AI) may soon enable doctors to detect and diagnose cancer in patients, facilitating earlier treatment. Cancer remains one of the most formidable human diseases, with over 19 million cases and 10 million deaths annually. The evolutionary complexity of cancer makes treating late-stage tumors particularly challenging (1^✔ ✔Trusted Source
Is it cancer? Artificial intelligence helps doctors get a clearer picture

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AI-Driven Identification of DNA Methylation Patterns for Early Cancer Diagnosis

DNA encodes genetic information through patterns of four bases—A, T, G, and C. Environmental changes can lead to modifications of some DNA bases by adding a methyl group, a process known as DNA methylation. Each cell contains millions of these DNA methylation marks.

Researchers have observed changes in these marks during early cancer development, which could be crucial for early diagnosis. Comparing the methylation patterns in cancerous tissues to those in healthy tissues can reveal specific DNA methylation signatures indicative of various cancer types. This identification process is extremely complex, akin to finding a needle in a haystack, and researchers believe that AI can significantly aid in this task.

Investigators from Cambridge University and Imperial College London trained an AI mode, using a combination of machine and deep learning, to look at the DNA methylation patterns and identify 13 different cancer types (including breast, liver, lung, and prostate cancers) from non-cancerous tissue with 98.2% accuracy.

This model relies on tissue samples (not DNA fragments in blood) and would need additional training and testing on a more diverse collection of biopsy samples to be ready for clinical use.

AI Enhances Understanding and Early Detection of Cancer

The researchers here believe that an important aspect of this study was the use of an explainable and interpretable core AI model, which provided insights into the reasoning behind its predictions. The researchers explored the inner workings of their model and showed that the model reinforces and enhances understanding of the underlying processes contributing to cancer.

Identifying these unusual methylation patterns (potentially from biopsies) would allow health care providers to detect cancer early. This could potentially improve patient outcomes dramatically, as most cancers are treatable or curable if detected early enough.

“Computational methods such as this model, through better training on more varied data and rigorous testing in the clinic, will eventually provide AI models that can help doctors with early detection and screening of cancers,” said the paper’s lead author, Shamith Samarajiwa. “This will provide better patient outcomes.”

Reference:

1. Is it cancer? Artificial intelligence helps doctors get a clearer picture – (https://www.aamc.org/news/it-cancer-artificial-intelligence-helps-doctors-get-clearer-picture)

Source-Eurekalert