Genetic testing for Alpha1-antitrypsin deficiency

被引：32
作者：
Strange, C
Dickson, R
Carter, C
Carpenter, MJ
Holladay, B
Lundquist, R
Brantly, ML
机构：
[1] Med Univ S Carolina, Div Pulm & Crit Care Med, Charleston, SC 29425 USA
[2] Med Univ S Carolina, Hollings Canc Ctr, Charleston, SC 29425 USA
[3] Univ Florida, Hlth Sci Ctr, Div Pulm & Crit Care Med, Gainesville, FL USA
来源：
GENETICS IN MEDICINE | 2004年 / 6卷 / 04期
关键词：
alpha(1)-antittypsin; genetic testing; smoking; genetic discrimination; confidentiality;
D O I：
10.1097/01.GIM.0000132669.09819.79
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
引用
收藏
页码：204 / 210
页数：7
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