title: Attitudes and knowledge about presymptomatic genetic testing among individuals at high risk for familial, early-onset Alzheimer's disease.
abstract: The study was conducted in a large Cuban family with early-onset familial Alzheimer's disease (AD). Fifty-six first-degree relatives of familial cases with AD were interviewed concerning their clinical and genetic knowledge about AD and their attitudes toward the possible use of presymptomatic genetic testing of AD. The individuals had only limited knowledge about their personal risk of developing AD. All 56 family members would use presymptomatic testing to know their own risk of AD. Confronted with a hypothetical reproductive choice, 50% would choose not to have children if they themselves had the mutation. A positive prenatal test would lead 48.2% of the participants to have an abortion, and 19.7% would continue the pregnancy regardless of the positive test result.
authors.affiliation: Higher Institute of Medical Science, National Center of Medical Genetics, Havana, Cuba. beatriz@infomed.sld.cu
authors.forename: B
authors.initials: B
authors.lastname: Marcheco
authors.forename: A M
authors.initials: AM
authors.lastname: Bertoli
authors.forename: I
authors.initials: I
authors.lastname: Rojas
authors.forename: L
authors.initials: L
authors.lastname: Heredero
mesh_terms: D000328:Adult; D000368:Aged; D000544:Alzheimer Disease / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology*; D001007:Anxiety / Q000517:prevention & control; D003462:Cuba; D005192:Family Health; D005193:Family Planning Services; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000523:psychology* / Q000706:statistics & numerical data*; D015438:Health Behavior; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D008297:Male; D017533:Marital Status; D008875:Middle Aged; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000523:psychology / Q000706:statistics & numerical data; D018570:Risk Assessment