Robin Z Hayeems1, Fiona A Miller2, Carolyn J Barg2, Yvonne Bombard3, June C Carroll4, Karen Tam5, Elizabeth Kerr6, Pranesh Chakraborty7, Beth K Potter8, Sarah Patton2, Jessica P Bytautas9, Louise Taylor10, Christine Davies11, Jennifer Milburn11, April Price12, Tanja Gonska13, Katherine Keenan10, Felix Ratjen14, Astrid Guttmann15. 1. Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Canada; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Canada. Electronic address: robin.hayeems@sickkids.ca. 2. Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Canada. 3. Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Canada; Li Ka Shing Knowledge Institute of St. Michael's Hospital, Toronto, Canada. 4. Department of Family and Community Medicine, Mount Sinai Hospital, Sinai Health System, University of Toronto, Toronto, Canada. 5. Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, Canada. 6. Department of Psychology, The Hospital for Sick Children, Toronto, Canada; Department of Pediatrics, Faculty of Medicine, University of Toronto, Toronto, Canada. 7. Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Canada; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, Canada. 8. School of Epidemiology, Public Health & Preventive Medicine, Faculty of Medicine, University of Ottawa, Ottawa, Canada. 9. Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Canada; Department of Public Health, University of Helsinki, Helsinki, Finland. 10. Department of Pediatrics, The Hospital for Sick Children, Toronto, Canada. 11. Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Canada. 12. Department of Pediatric Respirology, Children's Hospital of Western Ontario, London, Canada. 13. Division of Gastroenterology, Department of Pediatrics The Hospital for Sick Children, Toronto, Canada; Physiology and Experimental Medicine, The Hospital for Sick Children Research Institute, Toronto, Canada. 14. Department of Pediatrics, Faculty of Medicine, University of Toronto, Toronto, Canada; Division of Respiratory Medicine, Department of Pediatrics, The Hospital for Sick Children, Toronto, Canada. 15. Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Canada; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Canada; Department of Pediatrics, Faculty of Medicine, University of Toronto, Toronto, Canada; Department of Pediatrics, The Hospital for Sick Children, Toronto, Canada; Health System Planning & Evaluation Research Program, Institute for Clinical Evaluative Sciences, Toronto, Canada.
Abstract
OBJECTIVE: To explore the psychosocial implications of diagnostic uncertainty that result from inconclusive results generated by newborn bloodspot screening (NBS) for cystic fibrosis (CF). STUDY DESIGN: Using a mixed methods prospective cohort study of children who received NBS for CF, we compared psychosocial outcomes of parents whose children who received persistently inconclusive results with those whose children received true positive or screen-negative results. RESULTS: Mothers of infants who received inconclusive results (n = 17), diagnoses of CF (n = 15), and screen-negative results (n = 411) were surveyed; 23 parent interviews were completed. Compared with mothers of infants with true positive/screen-negative results, mothers of infants with inconclusive results reported greater perceived uncertainty (P < .006) but no differences in anxiety or vulnerability (P > .05). Qualitatively, parents valued being connected to experts but struggled with the meaning of an uncertain diagnosis, worried about their infant's health-related vulnerability, and had mixed views about surveillance. CONCLUSION: Inconclusive CF NBS results were not associated with anxiety or vulnerability but led to health-related uncertainty and qualitative concerns. Findings should be considered alongside efforts to optimize protocols for CF screening and surveillance. Educational and psychosocial supports are warranted for these families.
OBJECTIVE: To explore the psychosocial implications of diagnostic uncertainty that result from inconclusive results generated by newborn bloodspot screening (NBS) for cystic fibrosis (CF). STUDY DESIGN: Using a mixed methods prospective cohort study of children who received NBS for CF, we compared psychosocial outcomes of parents whose children who received persistently inconclusive results with those whose children received true positive or screen-negative results. RESULTS: Mothers of infants who received inconclusive results (n = 17), diagnoses of CF (n = 15), and screen-negative results (n = 411) were surveyed; 23 parent interviews were completed. Compared with mothers of infants with true positive/screen-negative results, mothers of infants with inconclusive results reported greater perceived uncertainty (P < .006) but no differences in anxiety or vulnerability (P > .05). Qualitatively, parents valued being connected to experts but struggled with the meaning of an uncertain diagnosis, worried about their infant's health-related vulnerability, and had mixed views about surveillance. CONCLUSION: Inconclusive CF NBS results were not associated with anxiety or vulnerability but led to health-related uncertainty and qualitative concerns. Findings should be considered alongside efforts to optimize protocols for CF screening and surveillance. Educational and psychosocial supports are warranted for these families.
Authors: Robin Z Hayeems; Fiona A Miller; Carolyn J Barg; Yvonne Bombard; Pranesh Chakraborty; Beth K Potter; Sarah Patton; Jessica Peace Bytautas; Karen Tam; Louise Taylor; Elizabeth Kerr; Christine Davies; Jennifer Milburn; Felix Ratjen; Astrid Guttmann; June C Carroll Journal: Can Fam Physician Date: 2021-06 Impact factor: 3.275
Authors: June C Carroll; Robin Z Hayeems; Fiona A Miller; Carolyn J Barg; Yvonne Bombard; Pranesh Chakraborty; Beth K Potter; Jessica Peace Bytautas; Karen Tam; Louise Taylor; Elizabeth Kerr; Christine Davies; Jennifer Milburn; Felix Ratjen; Astrid Guttmann Journal: Can Fam Physician Date: 2021-06 Impact factor: 3.275
Authors: Scott C Bell; Marcus A Mall; Hector Gutierrez; Milan Macek; Susan Madge; Jane C Davies; Pierre-Régis Burgel; Elizabeth Tullis; Claudio Castaños; Carlo Castellani; Catherine A Byrnes; Fiona Cathcart; Sanjay H Chotirmall; Rebecca Cosgriff; Irmgard Eichler; Isabelle Fajac; Christopher H Goss; Pavel Drevinek; Philip M Farrell; Anna M Gravelle; Trudy Havermans; Nicole Mayer-Hamblett; Nataliya Kashirskaya; Eitan Kerem; Joseph L Mathew; Edward F McKone; Lutz Naehrlich; Samya Z Nasr; Gabriela R Oates; Ciaran O'Neill; Ulrike Pypops; Karen S Raraigh; Steven M Rowe; Kevin W Southern; Sheila Sivam; Anne L Stephenson; Marco Zampoli; Felix Ratjen Journal: Lancet Respir Med Date: 2019-09-27 Impact factor: 30.700