Genetic testing for alpha1-antitrypsin deficiency

Genet Med. 2004 Jul-Aug;6(4):204-10. doi: 10.1097/01.gim.0000132669.09819.79.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

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