title: Experience with genetic counseling: the adolescent perspective.
abstract: Adolescence is a complex period of development that involves creating a sense of identity, autonomy, relationships and values. This stage of adjustment can be complicated by having a genetic condition. Genetic counseling can play an important role in providing information and support to this patient population; however, resources and guidelines are currently limited. In order to appropriately establish genetic counseling approaches and resource development, we investigated the experiences and perspectives of adolescents with a genetic condition with respect to their genetic counseling interactions. Using a qualitative exploratory approach, eleven semi-structured interviews were conducted with adolescents diagnosed with a genetic condition who received genetic counseling between the ages of 12 and 18 years at The Hospital for Sick Children. Transcripts were analyzed thematically using qualitative content analysis, from which three major interrelated themes emerged: 1) understanding the genetic counselor's role; 2) increasing perceived personal control; and 3) adolescent-specific factors influencing adaptation to one's condition. Additionally, a list of suggested tools and strategies for genetic counseling practice were elucidated. Our findings can contribute to the development of an adolescent-focused framework to enhance emerging genetic counseling approaches for this patient population, and can also facilitate the transition process from pediatric to adult care within patient and family-centered contexts.
authors.affiliation: Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada. amanda.pichini@nhs.net.|Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. amanda.pichini@nhs.net.|Clinical Genetics Service, Saint Michael's Hospital, Southwell Street, Bristol, BS2 8EG, UK. amanda.pichini@nhs.net.
authors.forename: Amanda
authors.identifier: 0000-0002-1776-562X
authors.initials: A
authors.lastname: Pichini
authors.affiliation: Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.|Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
authors.forename: Cheryl
authors.initials: C
authors.lastname: Shuman
authors.affiliation: Center for Innovation and Excellence in Child & Family Centered Care, The Hospital for Sick Children, Toronto, ON, Canada.
authors.forename: Karen
authors.initials: K
authors.lastname: Sappleton
authors.affiliation: Department of Pediatrics, Division of Adolescent Medicine, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada.
authors.forename: Miriam
authors.initials: M
authors.lastname: Kaufman
authors.affiliation: Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.|Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.|Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, ON, Canada.
authors.forename: David
authors.initials: D
authors.lastname: Chitayat
authors.affiliation: Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.|Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
authors.forename: Riyana
authors.initials: R
authors.lastname: Babul-Hirji
mesh_terms: D000293:Adolescent; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D010361:Patients / Q000523:psychology*; D036301:Qualitative Research
keywords: Adolescents; Anticipatory guidance; Autonomy; Genetic counseling; Perceived personal control; Practice recommendations; Qualitative research; Social connectedness