Genetic testing for alpha1-antitrypsin deficiency. |
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| Authors: | Charlie Strange Ryan Dickson Cindy Carter Matthew J Carpenter Brian Holladay Ryan Lundquist Mark L Brantly |
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| Affiliation: | Division of Pulmonary and Critical Care Medicine, Medical University of South Carolina, 96 Jonathan Lucas Street, 812 CSB, Charleston, SC 29425, USA. |
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| 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. |
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