Sports Medicine Research: In the Lab & In the Field: Athletes Are Open to Genetic Testing and Are Willing to Share Results (Sports Med Res)


Monday, June 20, 2016

Athletes Are Open to Genetic Testing and Are Willing to Share Results

Student-Athletes’ Views on APOE Genotyping for Increased Risk of Poor Recovery after a Traumatic Brain Injury

Hercher LS., Caudle M., Griffin J., Herzog M., Matviychuk D., Tidwell J. J Genet Cousel. 2016; ahead of print

Take Home Message: Despite a number of concerns many athletes responded with substantial interest and little resistance to the idea of genetic testing for the purpose of risk assessment for prolonged concussion recovery and late onset Alzheimer’s disease.

Medical professionals could use prognostic indicators to identify athletes who are at risk of poor recovery after a concussion. High-risk patients could then receive individualized treatment and advice on return to play. The apolipoprotein (APOE) e4 allele (genetic variation) is associated with late-onset Alzheimer’s disease as well as poor recovery and worse outcome after a brain injury. To date, there are no studies that addressed whether athletes have any interest in genetic testing or the extent to which the results would change the athlete’s athletic-career decisions. Therefore, the authors created a 38-item questionnaire to assess student-athletes’ interest in genetic testing to determine their risk of poor recovery from concussion and risk for late-onset Alzheimer’s disease. Eight hundred and forty-three (454 women, 389 men) NCAA collegiate athletes (from 20 institutions) completed the questionnaire. Athletes answered questions to determine their interest in genetic testing; willingness to share the test results with parents, coaches, and physicians; concerns about privacy and/or discrimination; and interest in genetic counseling. Over a quarter of the athletes reported they sustained a concussion (40%), and 15% of those recounted having a difficult recovery. Over half of the athletes were not concerned at all (53%) about concussion risk. Nearly three quarters of athletes expressed some level of interest (55% possibly interested, 19% very interested) in genetic testing for an increased risk of poor recovery from concussion. An athlete who experienced a difficult recovery was more likely to report being very interested in genetic testing. The majority of athletes responded that they were willing to take a genetic test for susceptibility to poor recovery if it was required by a school for sport participation (93%), and most still remained willing if it was requested by not mandatory (76%). Over half of the athletes expressed that the genetic testing results would not affect their behavior (59%) or style of play (67%), and only 15% said they would consider giving up their sport. Additionally, most athletes responded that they would share the results with their parents (86%), coaches (76%), and physicians (86%). The majority of athletes were not concerned about the possible ramifications of disclosures, but 41% were concerned about physicians not clearing them to play. Over 66% were moderately or very concerned about other people knowing if they had an increased risk for late-onset Alzheimer’s Disease. However, 86% of athletes were still interested in receiving information about their risk for late-onset Alzheimer’s Disease.

Genetic testing to determine risk of injury or disease in sport is becoming a real possibility and is already being done for sickle cell disease. This is the first study to acknowledge that athletes are interested in knowing their genetic risk and more importantly are willing to share this information. Despite a lot of interest, athletes did not believe this would affect their involvement in sport, nor were the athletes concerned about the other possible ramifications of disclosing genetic testing results; however, this could change in real-life situations. This cavalier attitude towards sharing genetic testing results was also supported by the fact athletes preferred meeting with the genetic counselor after the testing and not prior to genetic testing. This suggests they may not truly understand genetic testing. While genetic testing for risk of poor concussion recovery and late-onset Alzheimer’s disease could provide more informed consent prior to sport participation there is no way of avoiding concussions in sport, and medical professionals cannot remove an athlete from sport participation due to genetic risk. Medical professionals should be aware of genetic testing for the purpose of risk assessment for prolonged concussion recovery and late-onset Alzheimer’s disease; however, they should also seek the assistance of genetic counselors when a patient would like to be genetically screened.

Questions for Discussion: Do you think genetic testing could be helpful? Do you think genetic testing will become necessary?

Written by: Jane McDevitt, PhD
Reviewed by: Jeff Driban

Related Posts:
CSF-Biomarkers in Olympic Boxing: Diagnosis and Effects of Repetitive Head Trauma

Hercher LS, Caudle M, Griffin J, Herzog M, Matviychuk D, & Tidwell J (2016). Student-Athletes' Views on APOE Genotyping for Increased Risk of Poor Recovery after a Traumatic Brain Injury. Journal of Genetic Counseling PMID: 27207686


ATC_16 said...

Whether genetic testing is necessary or not, this study shows it is making its way into the Sports Medicine world. While athletes were open to genetic testing, they were not willing to change their behaviors based on their results. Moreover, almost half of the athletes surveyed were concerned with physician clearance for their sport. I believe if the Sports Medicine community travels down this road, we should have a solid understanding of what actions will be taken when the results are unfavorable.

Jane McDevitt said...


I agree with you. I really do not think the athletes truly understand what it means to have their genetics tested. They did not want to get counseled prior to testing. The athletes really only wanted to talk about their results after the fact. Since they reported they do not think they would modify their playing behaviors it will be important for the future to have genetic councilors talk about genetic testing and what are the risks and benefits of genetic testing. There are already many genetic testing rules and regulations put in place, but a solid understanding of these are necessary as it is emerging into the Sports Medicine Community.

EG said...

I believe this is an interesting concept, but I wonder how it would change the sports medicine world. For one, how much would it cost and when would it be implemented? (high school, college, etc.) I also wonder how it would impact a return-to-play protocol after a concussion. Do we automatically hold those out of activity longer if they report back with poorer recovery? Regardless, I believe ATC_16 is correct in saying that if it is implemented, athletes need to be better educated about the subject.

Aleah Kirsch said...

I think that if the Sports Medicine Community were to start to implement genetic testing, although interesting, I think it would muddy the water for us as Athletic Trainers. I think that if results were unfavorable like ATC_16 stated, what will be the next step? Will all athletes that have sustained a concussion need to be tested? Would all athletic settings have access to this technology? Along with these questions how would results in a negative or positive way affect the return to play protocol as EG stated. I do see this being a potential teaching tool though to show athletes the risks of concussions because at this point I don't think that athletes have a grasp of the long term side effects.

Jane McDevitt said...

As medical professionals I think athletic trainers will need to use this genetic information. There are athletic trainers who are looking at using genetic information to identify how tissue react to injuries depending on genetics/genotype to improve individualized rehabilitation protocols. I think it will be important for athletes to have information about their future risk for LOAD or prolonged concussions. Some athletes may end up switching from football to swimming if they see that they are at risk. More education is necessary before we actually go into genetically testing athletes. But, I think this would at least give athletes more information before going into a contact sport for 4-20 years. I do believe some athlete's minds will be changed, even though in this study (where they were not genetically tested or given results) said they would not change.

Catherine Hess said...

Once again, I feel as though education is the key. Making sure that the athletes are presented with and understand the information regarding concussions and the long term effects is a huge step. Genetic testing for increased susceptibility of future complications is a great tool. However, it is necessary to understand the significance of the results. I am curious about the impact that genetic testing would have on the sport setting in addition to the impact that this would have on the return to learn and return to play protocol. It is very important what exactly the results of genetic testing means for long term risk and recovery of a particular athlete. I agree whole heartedly with ATC_16 in the previous comment. It is absolutely necessary to understand the actions that are to be taken when the results are favorable as well as unfavorable. Genetic testing could be a great tool that is used, however, I feel as though the understanding has not quite reached the level where it should be to in order to implement it. It is a promising future aspect of athletic training, however, all of the information regarding results must first be gathered and interpreted.

Casey Jones said...

Great points Jane and Catherine. I’ve had a similar experience as a college football player who also works for a sports genetics company (Athletigen). When offering the test to many of my training partners many were initially dismissive of it, while others were open to testing. Those that dismissed the test didn’t exactly understand what genetic testing involved, or what it measured, therefore pointing to a lack of education around genetics as a whole. In other professional cohorts of athletes that we’ve worked with, individuals are generally more accepting of testing, perhaps due to a suggestion from a coach or trainer.

Those that did take the test were very interested once they received their results on the online Athletigen platform, comparing their results with one another in areas of power performance, metabolic conditioning, and nutrigenomic traits. We’re working toward better education of coaches and athletes as it relates to their genetic profile because we feel this is a missing link between genetic testing and optimizing performance.

We refer to unfavorable genetic variants as “opportunities” on our webpage because an unfavorable genetic variant related to ACL injury for example, provides a chance for athletes to set the stage for proper preventive measures to avoid injury down the road.

While the study outlined by Dr. McDevitt focused on testing for APOE, it would be beneficial to see how the interest metrics change when athletes are questions on broad-spectrum sports genetics testing.

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