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Date of Award


Document Type

Thesis - Campus Access Only

Degree Name

MS Human Genetics


Human Genetics Graduate Program


Routine use of APOE genotyping, with its association to an increased risk of late-onset Alzheimer’s disease (LOAD), is controversial and has been discouraged by professional organizations, in part because predictive information on LOAD is not clinically useful (ASHG, 1995; NSGC, 2012). Recent studies indicating that APOE genotype is also associated with the risk of a poor recovery from traumatic brain injury (TBI) suggest that APOE genotyping may have clinical value for athletes, either in determining the level of risk associated with participation in high TBI incidence sports, or in personalizing treatment of TBI and decision making around return-to-play. This study examined the interest of NCAA student-athletes in APOE genotyping, the barriers to testing, and their perception of the potential ramifications of finding out their APOE genotype. A survey of 843 Division I, II and III NCAA athletes indicated widespread interest in APOE genotyping. The vast majority (92.5%, n=780) were willing to test if it was required by the school, and most indicated that they would test if it were voluntary (75.9%, n=639). Student –athletes seemed largely unconcerned with potential ramifications of testing, and indicated that they would tell their coaches (75.7%, n=638), their parents (86.1%, n=725) and their doctors (86.0%, n=725). Students suggested that they did not expect testing to impact their behavior (59.4%, n=500) or their style of play (67.4%, n=568). Students were interested in learning more about their risk for LOAD and few indicated this made them less likely to test (12.4%, n=104). Despite this apparent lack of concern, most students indicated that they would prefer having the option of genetic counseling (51.5%, n=434) and the majority expressed an interest in meeting with a genetic counselor to discuss their results (62.5%, n=527). Study findings suggest a need to consider the appropriate use of APOE genotyping in this setting, and the role that genetic counselors might play in ensuring that athletes are adequately informed of all potential harms and benefits.