Trau­matic Brain In­jury, De­men­tia and Ge­netic Test­ing

In the wake of NFL sui­cides, a call to con­sider ge­netic test­ing for young ath­letes

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Should high school ath­letes and prospec­tive mil­i­tary per­son­nel be ge­net­i­cally tested to de­ter­mine if they are at in­creased risk for de­men­tia caused by re­peated head in­juries? The dean of the Univer­sity of Vir­ginia School of Medicine and the di­rec­tor of Mount Si­nai’s NFL Neu­ro­log­i­cal Pro­gram are ask­ing that ques­tion – and of­fer­ing rec­om­men­da­tions to clar­ify the eth­i­cal is­sues that ac­com­pany it. The long-term ef­fects of trau­matic brain in­jury [TBI] have been spot­lighted by the high-pro­file sui­cides of former NFL play­ers Ju­nior Seau and Dave Duer­son. In­creas­ing ev­i­dence sug­gests that re­peated head in­juries, whether from sports or the bat­tle­field, can lead to de­men­tia in later life. But ge­net­ics play an im­por­tant role as well, po­ten­tially in­creas­ing the risk for latelife de­men­tia more than 10 fold. That has prompted Steven T. DeKosky, MD, vice pres­i­dent and dean of UVA’s School of Medicine, and Sam Gandy, MD, the chair in Alzheimer’s re­search at the Mount Si­nai School of Medicine, to ex­am­ine whether ge­netic test­ing could help avert de­men­tia and re­duce the costs of de­men­tia care – a fig­ure es­ti­mated to top $1 tril­lion an­nu­ally by 2050.

Key in­for­ma­tion miss­ing

In a new ed­i­to­rial in the jour­nal Sci­ence Trans­la­tional Medicine, DeKosky and Gandy note there is a lack of vi­tal in­for­ma­tion on which to base a de­ci­sion on the value of such ge­netic test­ing. They con­ducted an in­for­mal poll of ex­perts in Alzheimer’s disease, TBI and re­lated ar­eas, and they found a sig­nif­i­cant ma­jor­ity of the 45 re­spon­dents agreed that it was pre­ma­ture to in­tro­duce ge­netic test­ing into schools or the mil­i­tary. What is needed, DeKosky and Gandy con­clude, is ad­di­tional in­for­ma­tion to eval­u­ate the use­ful­ness of such test­ing.

Find­ing so­lu­tions

One ap­proach to col­lect­ing the nec­es­sary data, they sug­gest, would be to set up a net­work of re­search cen­ters. This would al­low for the col­lec­tion of data from an ar­ray of sub­jects, in­clud­ing high-risk ado­les­cents ex­posed to brain in­juries through sports. The in­for­ma­tion could then be used to cre­ate pre­dic­tive math­e­mat­i­cal models. DeKosky and Gandy also sug­gest that valu­able data could be drawn from stud­ies now be­ing as­sem­bled, such as the Na­tional In­sti­tute of Child Health and Devel­op­ment Van­guard Study, which plans to track ma­jor life events of 100,000 chil­dren un­til their 21st birthdays.

Eth­i­cal and psy­cho­log­i­cal is­sues

DeKosky and Gandy note that there are both eth­i­cal and psy­cho­log­i­cal com­plex­i­ties to the ques­tion of ge­netic test­ing. “There is a very real con­cern about the ef­fect of geno­type in­for­ma­tion on fam­ily mem­bers and on per­sonal em­ploy­a­bil­ity and in­sur­a­bil­ity,” they write. “In ad­di­tion, re­cruit­ing high school-age sub­jects for … geno­typ­ing and fol­low-up could be con­tro­ver­sial as parental in­formed con­sent would be re­quired, ne­ces­si­tat­ing pre-test ge­netic coun­sel­ing for ado­les­cents and their par­ents.”

Con­clu­sion: An idea worth con­sid­er­ing

De­spite such con­cerns, DeKosky and Gandy con­clude that con­sid­er­ing ge­netic test­ing for high school ath­letes and the mil­i­tary “is, with­out a doubt, a worth­while chal­lenge.” “If life­style mod­i­fi­ca­tions for [those at ge­netic risk] – such as avoid­ing high-im­pact sports or opt­ing for mil­i­tary ca­reers that do not put the brain at risk – can re­duce de­men­tia preva­lence in 2050 by even 1%,” they write, “we would gain an an­nual sav­ings of $10 bil­lion in costs of care – and im­mea­sur­able sav­ings in terms of hu­man suf­fer­ing.” -This in­for­ma­tion pro­vided courtesy of the Univer­sity of Vir­ginia Health Sys­tem

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