Erratum: Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors: Erratum

Public Willingness to Undergo Presymptomatic Genetic Testing for Alzheimer’s Disease

“…A fully penetrant autosomal dominant form of EOAD is caused by mutations in the amyloid precursor protein ( APP ) and presenilin-1 ( PSEN1 ) genes, whereas the penetrance of mutations in presenilin-2 ( PSEN2 ) gene is 95% [2]. In contrast, individuals with one copy of the apolipoprotein E ( APOE )∗ E4 allele have a three- to fourfold increase in the risk of developing AD, particularly at an older age [2, 3]. The risk is higher in individuals who have two copies of the APOE∗E4 allele [2, 3].…”

“…In contrast, individuals with one copy of the apolipoprotein E ( APOE )∗ E4 allele have a three- to fourfold increase in the risk of developing AD, particularly at an older age [2, 3]. The risk is higher in individuals who have two copies of the APOE∗E4 allele [2, 3]. However, APOE is not a deterministic gene but rather considered a susceptibility gene, and the risk conferred by the E4 allele differs based on age, sex, and ethnicity [2, 3].…”

“…The risk is higher in individuals who have two copies of the APOE∗E4 allele [2, 3]. However, APOE is not a deterministic gene but rather considered a susceptibility gene, and the risk conferred by the E4 allele differs based on age, sex, and ethnicity [2, 3]. Due to its limited clinical utility, genetic testing for APOE is not recommended [2].…”

“…Identification of dominantly inherited genes and the revolution in genomic technology has made genetic testing readily available for diagnostic purposes in symptomatic individuals and for predictive purposes in asymptomatic individuals with a family history of AD [2]. Identifying AD mutation carriers in the presymptomatic stage facilitates enrollment in preclinical treatment trials, with the ultimate goal of initiating therapy before the manifestation of irreversible brain damage [4].…”

“…Identifying AD mutation carriers in the presymptomatic stage facilitates enrollment in preclinical treatment trials, with the ultimate goal of initiating therapy before the manifestation of irreversible brain damage [4]. Presymptomatic genetic testing (PGT) should always be preceded by genetic counseling and is preferably performed on the basis of a positive result in an affected family member [2]. Caselli et al reported that an online web-based survey revealed that 80.8% of respondents were willing to undergo PGT for AD [5].…”