title: Informed consent process in Alpha-1 testing of at-risk children: views of parents and adults tested as children.
abstract: Targeted testing programs are identifying increasing numbers of adults affected by Alpha-1 Antitrypsin Deficiency (Alpha-1) who are making decisions about genetic testing for their at-risk children. Although there are possible benefits, there are also potential risks. The purpose of this pilot study was to explore attitudes toward testing at-risk children from the first hand perspective of those involved, identify the benefits and risks experienced therein, and compare the views of parents and adults tested as children (ATC). The results of this pilot study suggest that ATC were significantly more favorable to including children in testing decisions than parents. ATC strongly indicated that they want to be involved in the testing decision and give permission prior to testing (p = 0.007). While the majority of ATC and parents were in favor of newborn screening for Alpha-1, parents had more extreme views, both positive and negative (p = 0.04). Both ATC and parents expressed significantly higher likelihoods of possible risks and benefits following Alpha-1 testing than they actually experienced. Results do not reveal serious harms from testing at-risk children. The two groups indicated that they want information regarding access to insurance, inheritance and expression, impact on anxiety, association with smoking, and usefulness in future planning prior to a decision to test or not to test at risk children. From the resulting data and ethical analysis we recommend that parents and children have relevant information prior to testing for Alpha-1 and that at risk children are directly involved in the decision-making process prior to testing.
authors.affiliation: Center for Bioethics & Humanities, University of Colorado Denver, Aurora, Colorado 80045, USA. marilyn.coors@ucdenver.edu
authors.forename: Marilyn E
authors.initials: ME
authors.lastname: Coors
authors.forename: Ray
authors.initials: R
authors.lastname: Moseley
authors.forename: Susan
authors.initials: S
authors.lastname: McGorray
mesh_terms: D000293:Adolescent; D000328:Adult; D026683:Advisory Committees; D002648:Child; D003657:Decision Making; D042241:Early Diagnosis; D005260:Female; D017144:Focus Groups; D005820:Genetic Testing / Q000523:psychology*; D057220:Health Literacy; D006801:Humans; D007231:Infant, Newborn; D007258:Informed Consent / Q000523:psychology*; D008297:Male; D015997:Neonatal Screening / Q000523:psychology; D010290:Parents; D010342:Patient Acceptance of Health Care / Q000523:psychology*; D010865:Pilot Projects; D018570:Risk Assessment; D011795:Surveys and Questionnaires; D055815:Young Adult; D019896:alpha 1-Antitrypsin Deficiency / Q000175:diagnosis*