Making Sense of Genetic Information: The Promising Evolution of Clinical Stratification and Precision Oncology Using Machine Learning

Genes (Basel). 2021 May 12;12(5):722. doi: 10.3390/genes12050722.

Abstract

Precision medicine is a medical approach to administer patients with a tailored dose of treatment by taking into consideration a person's variability in genes, environment, and lifestyles. The accumulation of omics big sequence data led to the development of various genetic databases on which clinical stratification of high-risk populations may be conducted. In addition, because cancers are generally caused by tumor-specific mutations, large-scale systematic identification of single nucleotide polymorphisms (SNPs) in various tumors has propelled significant progress of tailored treatments of tumors (i.e., precision oncology). Machine learning (ML), a subfield of artificial intelligence in which computers learn through experience, has a great potential to be used in precision oncology chiefly to help physicians make diagnostic decisions based on tumor images. A promising venue of ML in precision oncology is the integration of all available data from images to multi-omics big data for the holistic care of patients and high-risk healthy subjects. In this review, we provide a focused overview of precision oncology and ML with attention to breast cancer and glioma as well as the Bayesian networks that have the flexibility and the ability to work with incomplete information. We also introduce some state-of-the-art attempts to use and incorporate ML and genetic information in precision oncology.

Keywords: breast cancer; glioma; precision medicine; single nucleotide polymorphisms.

Publication types

  • Review

MeSH terms

  • Biomarkers, Tumor / genetics
  • Breast Neoplasms / diagnosis
  • Breast Neoplasms / genetics*
  • Computational Biology / methods*
  • Female
  • Genetic Testing / methods*
  • Humans
  • Machine Learning
  • Polymorphism, Single Nucleotide
  • Precision Medicine / methods*

Substances

  • Biomarkers, Tumor