Genetic testing of minors for alpha1-antitrypsin deficiency

Abstract

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.

Design: Case series of parents who test their children for AATD.

Setting: Nonprofit supported program in which participants telephoned or e-mailed requests for alpha(1)-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 alpha(1)-antitrypsin genotype and questionnaire.

Main outcome measures: 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).

Conclusion: Parents value genetic testing of their children at risk for AATD when testing can be done in a confidential setting.