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

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

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.

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?

Jane McDevitt, PhD
by: Jeff Driban


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