RT Journal
A1 Strange C, Moseley M, Jones Y, Schwarz L, Xie L, Brantly ML
T1 GEnetic testing of minors for alpha1-antitrypsin deficiency
JF Archives of Pediatrics & Adolescent Medicine
JO Archives of Pediatrics & Adolescent Medicine
YR 2006
FD May 1
VO 160
IS 5
SP 531
OP 534
DO 10.1001/archpedi.160.5.531
UL http://dx.doi.org/10.1001/archpedi.160.5.531
AB Background 
    Alpha1-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.Design 
    Case series of parents who test their children for AATD.Setting 
    Nonprofit supported program in which participants telephoned or e-mailed requests for alpha1-antitrypsin testing.Participants 
    All persons younger than 18 years whose parents or guardians chose to test for AATD from January 1, 2002, to October 1, 2004.Interventions 
    Home-administered finger-stick blood spot test for alpha1-antitrypsin genotype and questionnaire.Main Outcome Measures 
    The alpha1-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).Conclusion 
    Parents value genetic testing of their children at risk for AATD when testing can be done in a confidential setting.