期刊
GENETICS IN MEDICINE
卷 6, 期 4, 页码 204-210出版社
NATURE PUBLISHING GROUP
DOI: 10.1097/01.GIM.0000132669.09819.79
关键词
alpha(1)-antittypsin; genetic testing; smoking; genetic discrimination; confidentiality
Purpose: The Alpha Coded Testing Study investigated the risks, benefits, and psychological impact of home genetic testing for alpha(1)-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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