Genetic testing of minors for alpha1-antitrypsin deficiency.
BACKGROUND
Alpha(1)-antitrypsin deficiency (AATD) is a genetic disorder primarily affecting the lungs and liver of affected individuals, causing severe panlobular emphysema and cirrhosis.


OBJECTIVE
To describe the demographics and feasibility of a home test for AATD in children and adolescents.


METHODS
Case series of parents who test their children for AATD.


METHODS
Nonprofit supported program in which participants telephoned or e-mailed requests for alpha(1)-antitrypsin testing.


METHODS
All persons younger than 18 years whose parents or guardians chose to test for AATD from January 1, 2002, to October 1, 2004.


METHODS
Home-administered finger-stick blood spot test for alpha(1)-antitrypsin genotype and questionnaire.


METHODS
The alpha(1)-antitrypsin genotypes and questionnaire responses.


RESULTS
The Alpha Coded Testing Study tested 422 children and adolescents with a confidential test for AATD. Testing was suggested by a family member in most (76.7%) of the cases and was responsible for the many carrier (PIMZ and PIMS) genotypes (51.9%) in the study. Interest in testing was equally distributed among all ages. Test confidentiality was seen as an important reason to test (64.1% with a Likert scale score of 4-5 on a 5-point scale). Parents and guardians of the minors suggested that testing benefits (mean [SD] Likert score, 3.5 [1.4] on a 5-point scale) were higher than risks (mean [SD] Likert score, 1.7 [1.2]) (P=.001).


CONCLUSIONS
Parents value genetic testing of their children at risk for AATD when testing can be done in a confidential setting.
Strange
Charlie
C
Division of Pulmonary and Critical Care Medicine, Medical University of South Carolina, Charleston 29425, USA. strangec@musc.edu
Moseley
Mary Allison
MA
Jones
Yonge
Y
Schwarz
Laura
L
Xie
Lianqi
L
Brantly
Mark L
ML
D000293:Adolescent; D001294:Attitude to Health; D002648:Child; D002675:Child, Preschool; D003219:Confidentiality; D005240:Feasibility Studies; D005260:Female; D006580:Genetic Carrier Screening; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D033242:Minors; D010290:Parents; D012648:Self Care; D011795:Surveys and Questionnaires; D014481:United States; D019896:alpha 1-Antitrypsin Deficiency / Q000175:diagnosis* / Q000235:genetics