Last revised by Jeremy Jones on 18 Sep 2021

Radiogenomics is a relatively recently coined term to denote the relationship between the imaging features of a particular disease and various genetic or molecular features. The former is referred to as an imaging phenotype, whereas the later as genomic phenotype. 

Radiogenomics, therefore, provides a tool for clinicians to correlate imaging traits to molecular markers of diseases processes (such as cancer) in an effort to guide tailored therapy 1. Radiogenomics is also being utilized to tailor imaging studies to the genotype and phenotype of individuals and the disease process under investigation 2.


The application of radiogenomics encourages radiologists to work collaboratively with multidisciplinary teams comprising other clinicians, technologists, researchers and ethicists.

For example, in studies involving clear cell renal cell carcinoma, there is an association between CT evidence of renal vein invasion and mutations in KDM5C and BAP1 3. The implication is that information regarding a tumor’s gene expression and even gene sequencing can be determined with the application of radiogenomics to imaging studies.

Radiogenomics utilizes radiomics as a source of quantitative data, and hence the two practices are closely linked 4.

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