Genetic testing for alpha1-antitrypsin deficiency.

Academic Article


  • Abstract PURPOSE: The Alpha Coded Testing Study investigated the risks, benefits, and psychological impact of home genetic testing for alpha1-antitrypsin deficiency. METHODS: In the study, 996 adult individuals requested and returned a home-administered, confidential, fingerstick blood test. RESULTS: Individuals highly rated the benefits of establishing a diagnosis (82%), helping family members (86%), and anticipating peace of mind (79%). 78% of 239 current smokers reported a high likelihood of smoking cessation if diagnosed with AATD. After testing, more than 60% indicated that they would share the results with family and physicians but < 30% would share results with insurance companies. CONCLUSIONS: Confidential home testing for genetic disorders requires a comprehensive program of participant support.
  • Published In


  • Adolescent Adult Aged Female Genetic Testing*/psychology Humans Male Middle Aged Surveys and Questionnaires alpha 1-Antitrypsin Deficiency/diagnosis* alpha 1-Antitrypsin Deficiency/psychology
  • Author List

  • Strange C; Dickson R; Carter C; Carpenter MJ; Holladay B; Lundquist R; Brantly ML
  • Start Page

  • 204
  • End Page

  • 210
  • Volume

  • 6
  • Issue

  • 4