title: Carrier testing in children and adolescents.
abstract: Many international guidelines recommend that carrier testing in minors should be postponed either until the age of majority or until the child can be actively involved in the decision making process. Although a number of high school programs exist which provide carrier screening to adolescents in at-risk populations, recent guidelines published by the American Society of Human Genetics do not advocate this testing. Despite this, there are some circumstances in which carrier testing does occur in minors. This testing might be intentional, in which identification of carrier status is the goal of the test, or unintentional, where carrier status is identified as a by-product of testing. In this review we outline the situations in which carriers may be identified in childhood and the positions of professional guidelines that address carrier testing in children. We then review the arguments for and against carrier testing presented in the literature and compare this to the empirical evidence in this field.
authors.affiliation: Centre for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, Leuven, Belgium; Centre for Health Equity, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Australia.
authors.forename: Danya F
authors.initials: DF
authors.lastname: Vears
authors.affiliation: Genetics Education and Health Research, Murdoch Childrens Research Institute, The Royal Children's Hospital and Department of Paediatrics, The University of Melbourne, Parkville, Australia.
authors.forename: Sylvia A
authors.initials: SA
authors.lastname: Metcalfe
mesh_terms: D000293:Adolescent; D002648:Child; D005260:Female; D005808:Genes, Recessive; D050172:Genes, X-Linked; D006580:Genetic Carrier Screening / Q000379:methods; D005817:Genetic Counseling / Q000941:ethics; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D005820:Genetic Testing / Q000941:ethics / Q000379:methods / Q000592:standards; D017408:Guidelines as Topic; D007722:Health Knowledge, Attitudes, Practice; D006579:Heterozygote; D006801:Humans; D033162:Incidental Findings; D008297:Male; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000941:ethics / Q000379:methods / Q000592:standards; D011296:Prenatal Diagnosis / Q000941:ethics / Q000379:methods / Q000592:standards
keywords: Carrier screening; Carrier testing; Genetic counselling; Minors