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

Genet Test Mol Biomarkers. 2009 Feb;13(1):121-5. doi: 10.1089/gtmb.2008.0047.

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.

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Alzheimer Disease / diagnosis
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / psychology*
  • Cuba
  • DNA Mutational Analysis / psychology
  • Female
  • Founder Effect
  • Genetic Counseling
  • Genetic Testing / psychology*
  • Health Knowledge, Attitudes, Practice*
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Pedigree
  • Pregnancy
  • Prenatal Diagnosis / psychology
  • Presenilin-1 / genetics
  • Risk Factors
  • Surveys and Questionnaires
  • Time Factors
  • Young Adult

Substances

  • PSEN1 protein, human
  • Presenilin-1