Genetic Testing for Injury Prevention in Sport: Hype or Reality?

Abstract

Participation in physical activity and sport confers numerous health benefits but is frequently associated with acute and chronic musculoskeletal injuries, including tendon, ligament, muscle, and bone injuries. While rare musculoskeletal conditions result from single-gene mutations, most sports injuries are multifactorial, arising from interactions between intrinsic and extrinsic factors. Increasing evidence suggests a polygenic component, with heritability contributing to individual variation in injury susceptibility. Research has explored genetic risk factors using candidate gene studies, genome-wide association studies (GWAS), and next-generation sequencing (NGS). However, these approaches have limitations: associations are often not independently replicated, risk alleles may be rare or population-specific, and clinical sensitivity and specificity are generally inadequate. Non-coding RNAs and epigenetic modifications further complicate the genetic architecture of injury susceptibility. Despite this, direct-to-consumer genetic tests claim to predict musculoskeletal injury risk and concussion susceptibility, yet scientific evidence does not support their clinical validity. Personalized medicine, however, is achievable without genetic testing, through individualized assessment and management of modifiable risk factors. Large, well-powered, and rigorously phenotyped studies with replication across diverse populations are required before genetic tests can be considered reliable predictors of injury risk. Until then, clinicians can implement precision strategies to reduce injury risk, highlighting that personalized injury prevention is feasible today, even in the absence of validated genetic markers.