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

Genetic testing for alpha1-antitrypsin deficiency.

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1
Division of Pulmonary and Critical Care Medicine, Medical University of South Carolina, 96 Jonathan Lucas Street, 812 CSB, Charleston, SC 29425, USA.

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.

[Indexed for MEDLINE]
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