Background, current role, and potential applications of radiogenomics

J Magn Reson Imaging. 2018 Mar;47(3):604-620. doi: 10.1002/jmri.25870. Epub 2017 Nov 2.


With the genomic revolution in the early 1990s, medical research has been driven to study the basis of human disease on a genomic level and to devise precise cancer therapies tailored to the specific genetic makeup of a tumor. To match novel therapeutic concepts conceived in the era of precision medicine, diagnostic tests must be equally sufficient, multilayered, and complex to identify the relevant genetic alterations that render cancers susceptible to treatment. With significant advances in training and medical imaging techniques, image analysis and the development of high-throughput methods to extract and correlate multiple imaging parameters with genomic data, a new direction in medical research has emerged. This novel approach has been termed radiogenomics. Radiogenomics aims to correlate imaging characteristics (ie, the imaging phenotype) with gene expression patterns, gene mutations, and other genome-related characteristics and is designed to facilitate a deeper understanding of tumor biology and capture the intrinsic tumor heterogeneity. Ultimately, the goal of radiogenomics is to develop imaging biomarkers for outcome that incorporate both phenotypic and genotypic metrics. Due to the noninvasive nature of medical imaging and its ubiquitous use in clinical practice, the field of radiogenomics is rapidly evolving and initial results are encouraging. In this article, we briefly discuss the background and then summarize the current role and the potential of radiogenomics in brain, liver, prostate, gynecological, and breast tumors.

Level of evidence: 5 Technical Efficacy: Stage 2 J. Magn. Reson. Imaging 2017;47:604-620.

Keywords: brain; breast; gynecological cancer; liver; prostate; radiogenomics; radiomics.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Diagnostic Imaging*
  • Female
  • Genomics / methods*
  • Humans
  • Male
  • Neoplasms / diagnostic imaging*
  • Neoplasms / genetics*
  • Neoplasms / therapy