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Genet Med. 2004 Jul-Aug;6(4):204-10.

Genetic testing for alpha1-antitrypsin deficiency.

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Division of Pulmonary and Critical Care Medicine, Medical University of South Carolina, 96 Jonathan Lucas Street, 812 CSB, Charleston, SC 29425, USA.



The Alpha Coded Testing Study investigated the risks, benefits, and psychological impact of home genetic testing for alpha1-antitrypsin deficiency.


In the study, 996 adult individuals requested and returned a home-administered, confidential, fingerstick blood test.


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.


Confidential home testing for genetic disorders requires a comprehensive program of participant support.

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