Genetics and the Risks from Traumatic Brain Injuries

Editor’s note: Pending an FDA decision, 23andMe no longer offers new customers access to health reports referred to in this post. Customers who purchased prior to November 22, 2013 will still be able to see their health reports, but those who purchased after that time will not. Those customers will have access to ancestry information as well as access to their uninterpreted raw data.

An editorial in today’s Science Translational Medicine about traumatic brain injuries, genetics and the long-term risks for degenerative brain disease caught our eye.

According to the authors, the suicide of former star NFL linebacker Junior Seau, a death that mirrored other suicides of former NFL players who’d suffered degenerative brain damage, prompted them to provocatively ask whether prospective players of high impact sports or future soldiers should be genotyped to gauge their long-term risks from traumatic brain injuries.

Sam Gandy and Steven T. DeKosky point out that studies clearly link a person’s APOE-4 status — a genetic variant associated with higher risks for Alzheimer’s disease — with an increased risk for degenerative brain disease in response to traumatic brain injuries.

Would you want to know if your son or daughter had a higher risk?

I would. In fact, I do know because my kids have been tested.

What’s interesting is that Gandy and DeKosky asked about 100 traumatic brain injury experts whether they thought genotyping future athletes or soldiers was worthwhile. Most said it was too soon. But when asked whether they’d have their own children genotyped to gauge the risk, more than half said they would.

I thought that was telling.

It’s not just professional athletes and soldiers who are at risk from traumatic brain injury.
More than 1.7 million people a year sustain a traumatic brain injury and about 50,000 of them die each year, according the Center for Disease Control. There are both emotional and financial costs from these injuries.

It’s worth knowing more about the complicated environmental and genetic factors that could explain why traumatic brain injuries lead to long-term disabilities in some people and not in others.

Gandy and DeKosky’s paper is focused on APOE-4, traumatic brain injury and the risk of one form of degenerative brain disease.

23andMe is looking more broadly at this issue, studying the complicated interaction between our genetics and our environment. This can tell us a lot about health risks. It’s often said that our genetics “loads the gun, while the environment pulls the trigger.” In the case of traumatic brain injuries, there is increasing evidence of this interaction.

Recently we began genotyping professional boxers involved in a study being conducted by the Cleveland Clinic Lou Ruvo Center for Brain Health. This landmark study of professional fighters will help determine whether magnetic resonance imaging of the brain, along with other tests, can detect subtle changes in brain health that correlate with impaired thinking and functioning in response to boxing or head trauma. 23andMe is genotyping these athletes to help determine if there might be any genetic association that would make the athletes more or less susceptible to long-term injuries of the brain.

Our researchers are looking in other areas as well. 23andMe’s innovative research model allows us to track the relationship between certain genotypes and long-term disease. We’ve asked members of our Parkinson’s Research Community about their history of head trauma, for instance, and we have the ability to follow our community members over time, giving us insight into the connection between genetics, environmental factors and long term outcomes.

If the experts in traumatic brain injury think there’s value in using genotyping to gauge the risks of high impact sports for their own children, as noted by the authors in the Science paper, it must be of value to others too.


  • http://www.upstate.edu/biochem/faculty/?empID=westr Bob West

    RE: “Would you want to know if your son or daughter had a higher risk?

    I would. In fact, I do know because my kids have been tested.

    What’s interesting is that Gandy and DeKosky asked about 100 traumatic brain injury experts whether they thought genotyping future athletes or soldiers was worthwhile. Most said it was too soon. But when asked whether they’d have their own children genotyped to gauge the risk, more than half said they would.

    I thought that was telling.”

    Interesting disconnect between John Q Public and one’s own kids! Maybe the most effective way to get the public on-board with genetic testing, and with ‘P4 Medicine’ more generally, is through preventive health maintenance of their children. Adults, who are having all the discussions of genetic testing in the academic literature and via both traditional news and social media, have the least to gain, so perhaps the discussion should shift significantly towards our most precious loved ones (our kids) and future generations.

    Great post, Anne. And critical topic and timing…

  • Karen

    my gma & my father both have had parkinsons. I have a TBI. Bcz mother & son had it & now I`m reading my risk is increased bcz I have a TBI, I`d be interested in being followed as long as there is no cost to me. My brain injury was a hypoxic TBI caused by an anesthesia error!

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