Blacks face greater risk of heart dis­or­der er­rors

Honolulu Star-Advertiser - - NEWS - By Denise Grady

Ge­netic tests for an in­her­ited heart dis­or­der are more likely to have in­cor­rect re­sults in black Amer­i­cans than in whites, ac­cord­ing to a new study that is likely to have im­pli­ca­tions for other mi­nori­ties and other dis­eases, in­clud­ing can­cer.

Mis­takes have been made be­cause ear­lier re­search link­ing ge­netic traits to ill­ness did not in­clude enough mem­bers of mi­nor­ity groups to iden­tify dif­fer­ences be­tween them and the ma­jor­ity white pop­u­la­tion or to draw con­clu­sions about their risks of dis­ease.

The new study, pub­lished Wed­nes­day in The New Eng­land Jour­nal of Medicine, fo­cused on hy­per­trophic car­diomy­opa­thy — a thick­en­ing of the wall of the heart that can cause ab­nor­mal rhythms and sud­den death. The con­di­tion of­ten has no symp­toms but can cause young ath­letes to pass out or even die dur­ing the in­tense ac­tiv­ity of their sport. It can be caused by in­her­ited mu­ta­tions in one of 10 to 20 genes, and af­fects 1 in 500 peo­ple in the United States. More than 1,000 mu­ta­tions have been linked to the con­di­tion.

Ge­netic test­ing can iden­tify peo­ple who have sus­pect mu­ta­tions and is fre­quently of­fered to fam­ily mem­bers of those who have the dis­ease. But now re­searchers have found that af­ter ge­netic test­ing, black peo­ple are more likely than whites to be told mis­tak­enly that they are at risk.

The mis­di­ag­no­sis can have big reper­cus­sions. Be­sides the emo­tional stress, there is the time and ex­pense needed for med­i­cal fol­low-up. Ac­tive young peo­ple might be told to drop out of sports and in some cases even ad­vised to have de­vices sur­gi­cally im­planted in their chests.

Mis­takes have been more com­mon in blacks be­cause they are more likely than whites to carry cer­tain mu­ta­tions that, in ear­lier stud­ies, were thought to cause the dis­ease, said Ar­jun K. Man­rai, the first au­thor of the study and a re­searcher in the depart­ment of bio­med­i­cal in­for­mat­ics at Har­vard Med­i­cal School. Later re­search has proved those mu­ta­tions to be harm­less.

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