title: Attitudes and knowledge about genetic testing before and after finding the disease-causing mutation among individuals at high risk for familial, early-onset Alzheimer's disease.
abstract: This study was designed to investigate the influence of finding a disease-causing mutation for an early-onset form of Alzheimer's disease, with the intention of taking a presymptomatic genetic test. First-degree relatives of patients with Alzheimer's disease from a large Cuban family with a newly described mutation in presenilin 1 gene were interviewed before and after molecular studies. Significant differences were observed regarding the knowledge of the disease (p=0.0004), interest in presymptomatic testing (p=0.000), and possible reproductive behavior (p=0.0087) in the same individuals in two different periods, 1997 and 2007. Our results show that there is a marked difference in the attitudes concerning genetic testing when individuals gain more knowledge about the disease and when there is more certainty about the test.
authors.affiliation: National Centre of Medical Genetics, Havana, Cuba. beatriz@infomed.sld.cu
authors.forename: Beatriz
authors.initials: B
authors.lastname: Marcheco-Teruel
authors.forename: Evelyn
authors.initials: E
authors.lastname: Fuentes-Smith
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000544:Alzheimer Disease / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology*; D003462:Cuba; D004252:DNA Mutational Analysis / Q000523:psychology; D005260:Female; D018703:Founder Effect; D005817:Genetic Counseling; D005820:Genetic Testing / Q000523:psychology*; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000523:psychology; D053764:Presenilin-1 / Q000235:genetics; D012307:Risk Factors; D011795:Surveys and Questionnaires; D013997:Time Factors; D055815:Young Adult
chemical_list: C508853:PSEN1 protein, human; D053764:Presenilin-1