title: Should Genetic Testing be Offered for Children? The Perspectives of Adolescents and Emerging Adults in Families with Li-Fraumeni Syndrome.
abstract: Whether children should be offered genetic testing for cancer risk is much debated but young voices are rarely heard in these conversations. The current study explored perspectives of genetic testing held by adolescents and emerging adults in families with Li Fraumeni syndrome (LFS). Twelve 12- to 25-year-olds in families with LFS completed qualitative interviews for this study. All believed that testing should be offered for children but many qualified this statement saying parental approval would be needed and testing should be optional. Genetic testing was seen as way to learn of risk status, allow for disease prevention efforts, and reduce uncertainty and anxiety. Perceived disadvantages included negative emotions associated with the testing result. Participants generally felt that children should be involved in the testing decision, but that parents could unilaterally decide to have a child tested in certain circumstances (e.g., young age, high risk). All who were aware of having been tested and of their test result (n = 7; 4 positive) said testing had no negative impact on their outlook and they agreed with the decision to undergo testing. Implications of these findings for clinical practice and future research are discussed.
authors.affiliation: Division of Oncology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. melissa.alderfer@nemours.org.|Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. melissa.alderfer@nemours.org.|Center for Healthcare Delivery Science, Nemours Children's Health System, Nemours/A.I. duPont Hospital for Children, Room 163 Rockland Center One, 1600 Rockland Road, Wilmington, DE, 19803, USA. melissa.alderfer@nemours.org.|Department of Pediatrics, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA. melissa.alderfer@nemours.org.
authors.forename: Melissa A
authors.initials: MA
authors.lastname: Alderfer
authors.affiliation: Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Robert B
authors.initials: RB
authors.lastname: Lindell
authors.affiliation: Consultant, Chapel Hill, NC, USA.
authors.forename: Claire I
authors.initials: CI
authors.lastname: Viadro
authors.affiliation: Division of Oncology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
authors.forename: Kristin
authors.initials: K
authors.lastname: Zelley
authors.affiliation: Division of Cancer Predisposition, St. Jude Children's Research Hospital, Memphis, TN, USA.
authors.forename: Jessica
authors.initials: J
authors.lastname: Valdez
authors.affiliation: Division of Nursing Research, St. Jude Children's Research Hospital, Memphis, TN, USA.
authors.forename: Belinda
authors.initials: B
authors.lastname: Mandrell
authors.affiliation: Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.|Division of Adolescent Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
authors.forename: Carol A
authors.initials: CA
authors.lastname: Ford
authors.affiliation: Division of Oncology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.|Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.|Division of Cancer Predisposition, St. Jude Children's Research Hospital, Memphis, TN, USA.
authors.forename: Kim E
authors.initials: KE
authors.lastname: Nichols
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000235:genetics*; D008297:Male; D010287:Parent-Child Relations; D055815:Young Adult
keywords: Cancer predisposition; Children/adolescents; Genetic testing; Li-Fraumeni syndrome; Psychosocial impact; TP53 gene