Priyanka Ahimaz1, Maya Sabatello2, Min Qian3, Aijin Wang3, Erin M Miller4, Ashley Parrott5, Ashwin K Lal6, Kathryn C Chatfield7, Joseph W Rossano8, Stephanie M Ware9, John J Parent10, Paul Kantor11, Lisa Yue12, Julia Wynn1, Teresa M Lee13, Linda J Addonizio13, Paul S Appelbaum14, Wendy K Chung1,15. 1. Division of Molecular Genetics, Department of Pediatrics (P.A., J.W., W.K.C.), Columbia University Irving Medical Center. 2. Center for Precision Medicine and Genomics, Division of Ethics, Departments of Medicine, Medical Humanities and Ethics (M.S.). 3. Department of Biostatistics, Mailman School of Public Health (M.Q., A.W.). 4. Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati Children's Hospital Medical Center, Heart Institute Cincinnati, OH (E.M.M.). 5. The Heart Institute, Cincinnati Children's Hospital Medical Center, OH (A.P.). 6. Primary Children's Hospital, University of Utah, Salt Lake City (A.K.L.). 7. Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora (K.C.C.). 8. Children's Hospital of Philadelphia, PA (J.W.R.). 9. Departments of Pediatrics and Medical and Molecular Genetics (S.M.W.), Indiana University School of Medicine, Indianapolis. 10. Department of Pediatrics (J.J.P.), Indiana University School of Medicine, Indianapolis. 11. Stollery Children's Hospital, Edmonton, Alberta, Canada (P.K.). 12. Children's Cardiomyopathy Foundation (L.Y.), Columbia University Irving Medical Center. 13. Division of Cardiology, Department of Pediatrics (T.M.L., L.J.A.), Columbia University Irving Medical Center. 14. Center for Research on Ethical, Legal and Social Implications of Psychiatric, Neurologic and Behavioral Genetics, Department of Psychiatry, Columbia University, New York, NY (P.S.A.). 15. Department of Medicine (W.K.C.), Columbia University Irving Medical Center.
Abstract
BACKGROUND: Genetic testing is indicated for children with a personal or family history of hereditary cardiomyopathy to determine appropriate management and inform risk stratification for family members. The implications of a positive genetic result for children can potentially impact emotional well-being. Given the nuances of cardiomyopathy genetic testing for minors, this study aimed to understand how parents involve their children in the testing process and investigate the impact of genetic results on family dynamics. METHODS: A survey was distributed to participants recruited from the Children's Cardiomyopathy Foundation and 7 North American sites in the Pediatric Cardiomyopathy Registry. The survey explored adolescent and parent participants' emotions upon receiving their/their child's genetic results, parent-child result communication and its impact on family functionality, using the McMaster Family Assessment Device. RESULTS: One hundred sixty-two parents of minors and 48 adolescents who were offered genetic testing for a personal or family history of cardiomyopathy completed the survey. Parents whose child had cardiomyopathy were more likely to disclose positive diagnostic genetic results to their child (P=0.014). Parents with unaffected children and positive predictive testing results were more likely to experience negative emotions about the result (P≤0.001) but also had better family functioning scores than those with negative predictive results (P=0.019). Most adolescents preferred results communicated directly to the child, but parents were divided about whether their child's result should first be released to them or their child. CONCLUSIONS: These findings have important considerations for how providers structure genetic services for adolescents and facilitate discussion between parents and their children about results.
BACKGROUND: Genetic testing is indicated for children with a personal or family history of hereditary cardiomyopathy to determine appropriate management and inform risk stratification for family members. The implications of a positive genetic result for children can potentially impact emotional well-being. Given the nuances of cardiomyopathy genetic testing for minors, this study aimed to understand how parents involve their children in the testing process and investigate the impact of genetic results on family dynamics. METHODS: A survey was distributed to participants recruited from the Children's Cardiomyopathy Foundation and 7 North American sites in the Pediatric Cardiomyopathy Registry. The survey explored adolescent and parent participants' emotions upon receiving their/their child's genetic results, parent-child result communication and its impact on family functionality, using the McMaster Family Assessment Device. RESULTS: One hundred sixty-two parents of minors and 48 adolescents who were offered genetic testing for a personal or family history of cardiomyopathy completed the survey. Parents whose child had cardiomyopathy were more likely to disclose positive diagnostic genetic results to their child (P=0.014). Parents with unaffected children and positive predictive testing results were more likely to experience negative emotions about the result (P≤0.001) but also had better family functioning scores than those with negative predictive results (P=0.019). Most adolescents preferred results communicated directly to the child, but parents were divided about whether their child's result should first be released to them or their child. CONCLUSIONS: These findings have important considerations for how providers structure genetic services for adolescents and facilitate discussion between parents and their children about results.
Authors: Teresa M Lee; Daphne T Hsu; Paul Kantor; Jeffrey A Towbin; Stephanie M Ware; Steven D Colan; Wendy K Chung; John L Jefferies; Joseph W Rossano; Chesney D Castleberry; Linda J Addonizio; Ashwin K Lal; Jacqueline M Lamour; Erin M Miller; Philip T Thrush; Jason D Czachor; Hiedy Razoky; Ashley Hill; Steven E Lipshultz Journal: Circ Res Date: 2017-09-15 Impact factor: 17.367
Authors: Sophia B Hufnagel; Lisa J Martin; Amy Cassedy; Robert J Hopkin; Armand H Matheny Antommaria Journal: Am J Med Genet A Date: 2016-05-05 Impact factor: 2.802
Authors: Jessica M Valdez; Breya Walker; Susan Ogg; Jami Gattuso; Melissa A Alderfer; Kristin Zelley; Carol A Ford; Justin N Baker; Belinda N Mandrell; Kim E Nichols Journal: Pediatr Blood Cancer Date: 2018-07-15 Impact factor: 3.167
Authors: Ellen M A Smets; Marinka M H Stam; Tineke M Meulenkamp; Irene M van Langen; Arthur A M Wilde; Albert Wiegman; Guido M de Wert; Aad Tibben Journal: Am J Med Genet A Date: 2008-03-15 Impact factor: 2.802
Authors: Rony E Duncan; Lynn Gillam; Julian Savulescu; Robert Williamson; John G Rogers; Martin B Delatycki Journal: Am J Med Genet C Semin Med Genet Date: 2008-02-15 Impact factor: 3.908