Gene Doping Detection and Monitoring in Sports

Gene doping—the unauthorised use of genetic elements or gene therapy techniques to enhance athletic performance—poses a novel challenge to the integrity of competitive sport and to athlete health. Detection strategies have evolved alongside the technologies they aim to control, moving from traditional biochemical assays towards highly sensitive molecular approaches. Central to current efforts are methods capable of identifying exogenous DNA sequences or their expression products in biological fluids, often at extremely low abundance against a background of native genomic material. These approaches encompass polymerase chain reaction–based assays, digital quantification techniques and high-throughput sequencing, each adapted to detect transgenes, vector components or altered junction sites. Monitoring protocols now integrate sample collection timing, specimen type and assay selection to optimise sensitivity, specificity and the detection window, while balancing practical considerations for anti-doping laboratories worldwide. This multifaceted framework supports both deterrence and enforcement, underpinning fair competition on a global scale.

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Gene Doping Detection and Monitoring in Sports publication trend

The graph below shows the total number of articles in gene doping detection and monitoring in sports across all publications each year (not limited to Nature Index journals).

Technical terms

Droplet digital PCR: A technique that partitions a DNA sample into thousands of nanolitre-sized droplets, enabling absolute quantification of target sequences without external standards.

Microfluidic quantitative PCR: A high-throughput platform that performs simultaneous qPCR reactions in integrated microchannels, allowing multiplex detection with minimal reagent use.

Next-generation sequencing: Massively parallel DNA sequencing technology that reads millions of fragments simultaneously, facilitating comprehensive analysis of genetic material.

Transgene: An exogenous gene construct introduced into an organism’s cells, often via plasmid or viral vector, to alter phenotype or function.

Cell-free DNA: DNA fragments circulating freely in bodily fluids, derived from cells or extracellular sources, and serving as a non-invasive matrix for molecular detection.

References

1. Droplet Digital PCR Detection of the Erythropoietin Transgene from Horse Plasma and Urine for Gene-Doping Control. Genes (2019).
2. Microfluidic Quantitative PCR Detection of 12 Transgenes from Horse Plasma for Gene Doping Control. Genes (2020).
3. A next-generation sequencing method for gene doping detection that distinguishes low levels of plasmid DNA against a background of genomic DNA. Gene Therapy (2019).