Exploring immediate responses to APOE ε 4/ε4 genotype and Alzheimer's disease risk disclosure in Latinos

Background Few studies have investigated the psychosocial impact of APOE ε4/ε4 genotype disclosure, and none in ethnic minorities. Objective We used mixed methods to investigate immediate responses to APOE ε4/ε4 genotype disclosure among Latino residents of northern Manhattan who participated in the Información de la Enfermedad de Alzheimer para Latinos (IDEAL) Study. Methods Eleven ε4 homozygotes received their genotype and a 55% risk estimate for developing Alzheimer's disease (AD) by age 85 from bilingual genetic counselors. Session recordings were transcribed and qualitative content analysis performed. One week after disclosure, distress levels were assessed through the intrusion subscale of the Impact of Event Scale-Revised (IES-R) and five items from the Impact of Genetic Testing in AD scale (IGT-AD) for 7/11 homozygotes, compared with participants with 0 (n = 61) or 1 (n = 47) ε4 alleles who also learned their APOE genotypes. Results Nine homozygotes were women; seven had an AD family history; age averaged 51 years. Participants with an AD family history or memory worries felt their concerns were validated; others were often surprised. Only one participant showed signs of elevated psychological distress. Responses on the IES-R intrusion subscale and IGT-AD items differed significantly from those of IDEAL participants who learned they had 0 or 1 ε4 alleles, but distress levels were low. Conclusions Among most Latinos in northern Manhattan who learned they had an APOE ε4/ε4 genotype, disclosure did not provoke elevated levels of distress.