Track 41: Radiogenomics and Genotype-Phenotype Imaging

Radiogenomics and Genotype–Phenotype Imaging refers to the study of how genetic variations (genotype) are related to the imaging characteristics (phenotype) seen on medical imaging such as MRI, CT, or ultrasound. This field connects molecular and structural information to better understand disease behavior and improve clinical decision-making.

Key Concepts:
Radiogenomics focuses on identifying how specific genes or gene expression patterns influence the visual appearance and progression of diseases. Genotype–phenotype imaging correlations can help explain why certain imaging features appear in some patients and not others. These imaging features can act as non-invasive indicators for diagnosis, treatment planning, and prognosis.

Methods:
Quantitative image analysis techniques are used to extract detailed imaging features that may not be visually detectable. High-throughput genomic profiling, including sequencing and gene expression analysis, is used to identify important genetic markers. Artificial intelligence and machine learning are increasingly used to analyze and correlate large imaging and genomic datasets to identify predictive patterns.

Clinical Applications:
Radiogenomics is widely used in cancer research to assess tumor behavior, predict treatment response, and understand disease aggressiveness without the need for repeated biopsies. In neurology, it helps in studying developmental brain disorders, neonatal encephalopathy, and congenital conditions by linking brain imaging patterns with underlying genetic changes. In cardiology, it supports the evaluation of congenital heart diseases and inherited cardiomyopathies.

Relevance in Neonatal and Pediatric Medicine:
Radiogenomics aids in early identification of genetic and metabolic disorders that present during the neonatal period. It supports early diagnosis of congenital brain malformations, assists in predicting neurological development outcomes in preterm infants, and guides individualized therapeutic and follow-up strategies. This approach reduces reliance on invasive testing and enhances personalized care planning.

Importance:
Radiogenomics enhances precision medicine by integrating genetic information with imaging-based assessment. It allows clinicians to better understand disease mechanisms, tailor treatments to the individual needs of the patient, improve outcome prediction, and support early and targeted intervention strategies in neonatal and pediatric care.