June C Carroll1, Robin Z Hayeems2, Fiona A Miller3, Carolyn J Barg4, Yvonne Bombard5, Pranesh Chakraborty6, Beth K Potter7, Jessica Peace Bytautas8, Karen Tam9, Louise Taylor10, Elizabeth Kerr11, Christine Davies12, Jennifer Milburn13, Felix Ratjen14, Astrid Guttmann15. 1. Family physician and clinician scientist, Professor, and Sydney G. Frankfort Chair in Family Medicine in the Department of Family and Community Medicine with the Sinai Health System and the University of Toronto in Ontario. june.carroll@sinaihealth.ca. 2. Scientist in the Child Health Evaluative Sciences Program at the Hospital for Sick Children in Toronto and Associate Professor in the Institute of Health Policy, Management and Evaluation at the University of Toronto. 3. Professor of Health Policy and holds the Chair in Health Management Strategies at the Institute of Health Policy, Management and Evaluation at the University of Toronto. 4. Research analyst at Health Quality Ontario in Toronto. 5. Scientist at the Li Ka Shing Knowledge Institute at St Michael's Hospital in Toronto and Associate Professor in the Institute of Health Policy, Management and Evaluation at the University of Toronto. 6. Executive Director and Chief Medical Officer of Newborn Screening Ontario in Ottawa, a medical biochemist in the Department of Pediatrics at the Children's Hospital of Eastern Ontario in Ottawa and Associate Professor of Pediatrics at the University of Ottawa. 7. Associate Professor in the Department of Epidemiology and Community Medicine at the University of Ottawa and holds the University Research Chair in Health Services for Children with Rare Diseases. 8. Doctoral student in the Dalla Lana School of Public Health and a research assistant in the Institute of Health Policy, Management and Evaluation at the University of Toronto. 9. Certified genetic counselor and screening specialist at Newborn Screening Ontario. 10. Nurse practitioner with expertise in caring for children with cystic fibrosis at the Hospital for Sick Children. 11. Clinical neuropsychologist and a scientist in the Department of Pediatrics, Division of Neurology, at the Hospital for Sick Children, and Adjunct Faculty in the Department of Pediatrics at the University of Toronto. 12. Certified genetic counselor in Ottawa. 13. Operations Director for Newborn Screening Ontario. 14. Division Chief of Pediatric Respiratory Medicine, Co-lead of the Cystic Fibrosis Centre, Senior Scientist at the Research Institute in the Translational Medicine research program, and Medical Director of the Clinical Research Unit, all at the Hospital for Sick Children, and Professor of Pediatrics at the University of Toronto. 15. Clinician scientist in the Division of Pediatric Medicine at the Hospital for Sick Children, Chief Science Officer and Senior Scientist at ICES, and Professor of Pediatrics with a cross appointment at the Institute of Health Policy, Management and Evaluation and the Epidemiology Division of the Dalla Lana School of Public Health at the University of Toronto.
Abstract
OBJECTIVE: To explore primary care providers' (PCPs') preferred roles and confidence in caring for infants receiving a positive cystic fibrosis (CF) newborn screening (NBS) result, as well as management of CF family planning issues, given that expanded NBS has resulted in an increase in positive results. DESIGN: Mailed questionnaire. SETTING: Ontario. PARTICIPANTS: Ontario FPs, pediatricians, and midwives identified by Newborn Screening Ontario as having had an infant with a positive CF NBS result in their practice in the previous 6 months. MAIN OUTCOME MEASURE: Primary care providers' preferred roles in providing well-baby care for infants with positive CF screening results. RESULTS: Overall, 321 of 628 (51%) completed surveys (208 FPs, 68 pediatricians, 45 midwives). For well-baby care for infants confirmed to have CF, 77% of PCPs indicated they would not provide total care (ie, 68% would share care with other specialists and 9% would refer to specialists completely); for infants with an inconclusive CF diagnosis, 50% of PCPs would provide total care, 45% would provide shared care, and 5% would refer to a specialist; for CF carriers, 89% of PCPs would provide total care, 9% would provide shared care, and 2% would refer. Half (54%) of PCPs were extremely or very confident in providing reassurance about CF carriers' health. Only 25% knew how to order parents' CF carrier testing; 67% knew how to refer for prenatal diagnosis. Confidence in reassuring parents about the health of CF carrier children was associated with providing total well-baby care for CF carriers (risk ratio of 1.50; 95% CI 1.14 to 1.97) and infants with an inconclusive diagnosis (risk ratio of 3.30; 95% CI 1.34 to 8.16). CONCLUSION: Most PCPs indicated willingness to treat infants with a range of CF NBS results in some capacity. It is concerning that some indicated CF carriers should have specialist involvement and only half were extremely or very confident about reassuring families about carrier status. This raises issues about possible medicalization of those with carrier status, prompting the need for PCP education about genetic disorders and the meaning of genetic test results.
OBJECTIVE: To explore primary care providers' (PCPs') preferred roles and confidence in caring for infants receiving a positive cystic fibrosis (CF) newborn screening (NBS) result, as well as management of CF family planning issues, given that expanded NBS has resulted in an increase in positive results. DESIGN: Mailed questionnaire. SETTING: Ontario. PARTICIPANTS: Ontario FPs, pediatricians, and midwives identified by Newborn Screening Ontario as having had an infant with a positive CF NBS result in their practice in the previous 6 months. MAIN OUTCOME MEASURE: Primary care providers' preferred roles in providing well-baby care for infants with positive CF screening results. RESULTS: Overall, 321 of 628 (51%) completed surveys (208 FPs, 68 pediatricians, 45 midwives). For well-baby care for infants confirmed to have CF, 77% of PCPs indicated they would not provide total care (ie, 68% would share care with other specialists and 9% would refer to specialists completely); for infants with an inconclusive CF diagnosis, 50% of PCPs would provide total care, 45% would provide shared care, and 5% would refer to a specialist; for CF carriers, 89% of PCPs would provide total care, 9% would provide shared care, and 2% would refer. Half (54%) of PCPs were extremely or very confident in providing reassurance about CF carriers' health. Only 25% knew how to order parents' CF carrier testing; 67% knew how to refer for prenatal diagnosis. Confidence in reassuring parents about the health of CF carrier children was associated with providing total well-baby care for CF carriers (risk ratio of 1.50; 95% CI 1.14 to 1.97) and infants with an inconclusive diagnosis (risk ratio of 3.30; 95% CI 1.34 to 8.16). CONCLUSION: Most PCPs indicated willingness to treat infants with a range of CF NBS results in some capacity. It is concerning that some indicated CF carriers should have specialist involvement and only half were extremely or very confident about reassuring families about carrier status. This raises issues about possible medicalization of those with carrier status, prompting the need for PCP education about genetic disorders and the meaning of genetic test results.
Authors: Robin Z Hayeems; Fiona A Miller; Julian Little; June C Carroll; Judith Allanson; Pranesh Chakraborty; Brenda J Wilson; Jessica P Bytautas; Robert J Christensen Journal: Pediatrics Date: 2009-08-10 Impact factor: 7.124
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Authors: A Tluczek; E H Mischler; P M Farrell; N Fost; N M Peterson; P Carey; W T Bruns; C McCarthy Journal: J Dev Behav Pediatr Date: 1992-06 Impact factor: 2.225
Authors: Carlo Castellani; Kevin W Southern; Keith Brownlee; Jeannette Dankert Roelse; Alistair Duff; Michael Farrell; Anil Mehta; Anne Munck; Rodney Pollitt; Isabelle Sermet-Gaudelus; Bridget Wilcken; Manfred Ballmann; Carlo Corbetta; Isabelle de Monestrol; Philip Farrell; Maria Feilcke; Claude Férec; Silvia Gartner; Kevin Gaskin; Jutta Hammermann; Nataliya Kashirskaya; Gerard Loeber; Milan Macek; Gita Mehta; Andreas Reiman; Paolo Rizzotti; Alec Sammon; Dorota Sands; Alan Smyth; Olaf Sommerburg; Toni Torresani; Georges Travert; Annette Vernooij; Stuart Elborn Journal: J Cyst Fibros Date: 2009-02-26 Impact factor: 5.482
Authors: Robin Z Hayeems; Fiona A Miller; Marian Vermeulen; Beth K Potter; Pranesh Chakraborty; Christine Davies; June C Carroll; Felix Ratjen; Astrid Guttmann Journal: Pediatrics Date: 2017-10-12 Impact factor: 7.124
Authors: Brittany Harding; Colleen Webber; Lucia Ruhland; Nancy Dalgarno; Christine M Armour; Richard Birtwhistle; Glenn Brown; June C Carroll; Michael Flavin; Susan Phillips; Jennifer J MacKenzie Journal: J Community Genet Date: 2018-04-26
Authors: Marci K Sontag; Joshua I Miller; Sarah McKasson; Amy Gaviglio; Stacey L Martiniano; Rhonda West; Marisol Vazquez; Clement L Ren; Philip M Farrell; Susanna A McColley; Yvonne Kellar-Guenther Journal: Int J Neonatal Screen Date: 2022-06-23