Can gene doping be detected?

Is it at all possible to detect genetic manipulation for the enhancement of athletic performance?  When a gene is inserted into the body it becomes part of the human genome. Afterwards, when making a screening how will we tell whether a gene is new or if it has always been there?

The current prognosis for detection of gene doping is not sufficiently efficient. As is often the case, the technological development of drugs and performance enhancing methods are far ahead of the detection methods. 

Detection by biopsy
The problem with detecting muscle based therapies is that they will only have a local effect in the vicinity of the injection site. Therefore genetic enhancement at muscle level is unlikely to be detected by use of the ordinary urine or blood testing methods.

To identify associated chemicals or viral particles stemming from the injection of the genetic material it would be necessary to take a tissue sampling from the specific injection site. Given the invasive nature of muscle biopsies it is highly unlikely that athletes will ever be forced to give consent to such detection methods which in addition would be like looking for a needle in a hay stack.

Detection by blood monit<personname w:st="on">or</personname>ing
Other forms of genetic doping, for instance genetically based blood doping, are not in the same way specified to a certain tissue in the body.

The injection of a gene responsible for producing the blood stimulating protein erythropoietin (EPO) could take place at almost any site of the body and would then travel through the blood stream to the local EPO-producing tissue.

It would be impossible to distinguish between the body’s normal EPO-proteins and the genetically enhanced EPO-proteins. The only current way to detect the use of an enhancement strategy is by monitoring the blood level of the protein which will be elevated following a bout of therapy.

Genetic blood test on the way
Different research programmes funded by WADA are in the process of developing a genetic blood test.

Assistant Professor James Rupert at University of BritishColombia in Canada plans to have a prototype test ready within three years.

“If the EPO gene has been inserted into a person’s cells, there will be a distinct pattern of changes in gene activity compared to natural patterns,” Rupert explains the background for his test.

The test will measure gene activity and distinguish between the effects of naturally occurring levels of EPO and those caused by gene therapy.

The Australian scientist Robin Parisotto, who played a key role in the development of a blood test for EPO, is collaborating with the researchers at University of BritishColombia.

Parisotto believes that it is unlikely that a test will be ready in time for the 2008 Beijing Olympics. But he also believes that when the Olympic Games 2008 come aroudn, the drug cheats and the scientists behind them will be in possession of newly manufactured drugs based on gene technology, as for instance Repoxygen (link: What’s actually happening…..)

“The problem with the cheats is that they get their hands on drugs long before they come out in the medical field,” as Parisotto says.

Detection by protein screening <personname w:st="on">or</personname> gene map
According to a publication on gene doping from the Netherland Centre for Doping Affairs written by Prof. Dr. H. J. Haisma, the most likely solution to the problem of detecting gene doping is to develop a ‘Protein Marker’ screening method. This method would monitor the fluctuations of protein levels in the human body and establish ranges of normal values.

“With progress in proteomic techniques, which allows the simultaneous screening of hundreds of proteins, this technique may become valuable for anti-doping testing”, the report argues.

A technique already available is known as ‘micro-array DNA analysis’ and provides a genetic footprint of the human gene activity. If every human being was equipped with a ‘gene map’ from birth or childhood it would be simple to reveal any deviation from the ‘normal’ gene expression – indicating alterations in the inherited genetic potential.