Genetic testing for alpha1-antitrypsin deficiency.
OBJECTIVE
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.
Strange
Charlie
C
Division of Pulmonary and Critical Care Medicine, Medical University of South Carolina, 96 Jonathan Lucas Street, 812 CSB, Charleston, SC 29425, USA.
Dickson
Ryan
R
Carter
Cindy
C
Carpenter
Matthew J
MJ
Holladay
Brian
B
Lundquist
Ryan
R
Brantly
Mark L
ML
D000293:Adolescent; D000328:Adult; D000368:Aged; D005260:Female; D005820:Genetic Testing / Q000523:psychology; D006801:Humans; D008297:Male; D008875:Middle Aged; D011795:Surveys and Questionnaires; D019896:alpha 1-Antitrypsin Deficiency / Q000175:diagnosis* / Q000523:psychology