Genetic testing for Alpha1-antitrypsin deficiency

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Abstract

Purpose:

The Alpha Coded Testing Study investigated the risks, benefits, and psychological impact of home genetic testing for α1-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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