Newborn screening for cystic fibrosis: Role of primary care providers in caring for infants with positive screening results

doi:10.46747/cfp.6706e144

. 2021 Jun;67(6):e144-e152.

doi: 10.46747/cfp.6706e144.

Newborn screening for cystic fibrosis: Role of primary care providers in caring for infants with positive screening results

Affiliations

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.

PMID: 34127476
PMCID: PMC8202744
DOI: 10.46747/cfp.6706e144

Newborn screening for cystic fibrosis: Role of primary care providers in caring for infants with positive screening results

June C Carroll et al. Can Fam Physician. 2021 Jun.

. 2021 Jun;67(6):e144-e152.

doi: 10.46747/cfp.6706e144.

Authors

Affiliations

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.

PMID: 34127476
PMCID: PMC8202744
DOI: 10.46747/cfp.6706e144

Abstract
in English, French

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.

Objectif: Explorer les rôles que privilégient les professionnels des soins primaires (PSP) et leur confiance dans les soins aux nourrissons qui reçoivent des résultats positifs au dépistage néonatal (DN) de la fibrose kystique (FK), de même que dans la prise en charge des questions liées à la planification familiale pour la FK, étant donné que le DN élargi s’est traduit par une augmentation du nombre de résultats positifs.

Type d’étude: Un questionnaire envoyé par la poste.

Contexte: Ontario.

Participants: Des MF, des pédiatres et des sages-femmes en Ontario, identifiés par Dépistage néonatal Ontario comme ayant pris soin d’un nouveau-né qui avait reçu des résultats positifs au DN de la FK durant les 6 mois précédents.

Principaux paramètres à l’étude: Les rôles privilégiés par les PSP dans les soins de puériculture aux nouveau-nés ayant reçu des résultats positifs au dépistage de la FK.

Résultats: Dans l’ensemble, 321 des 628 (51 %) PSP ont répondu au questionnaire (208 MF, 68 pédiatres, 45 sages-femmes). Pour les soins de puériculture aux nourrissons dont la FK était confirmée, 77 % des PSP ont indiqué qu’ils n’offriraient pas les soins complets (c.-à-d. que 68 % partageraient les soins avec d’autres spécialistes et 9 % s’en remettraient complètement à des spécialistes); pour les nourrissons dont le diagnostic de FK n’était pas concluant, 50 % offriraient les soins complets, 45 % fourniraient des soins partagés et 2 % aiguilleraient vers des soins spécialisés; pour les porteurs de la FK, 89 % des PSP offriraient les soins complets, 9 % des soins partagés, et 2 % aiguilleraient en spécialité. La moitié (54 %) des PSP avaient extrêmement ou très confiance de pouvoir rassurer les parents à propos de l’état de santé des porteurs de la FK. Seulement 25 % savaient comment prescrire un test pour les parents d’un porteur de la FK; 67 % savaient comment demander un diagnostic prénatal. La confiance de pouvoir rassurer les parents au sujet de la santé des enfants porteurs de la FK était associée à la prestation des soins de puériculture complets aux porteurs de la FK (risque relatif de 1,50; IC à 95 % de 1,14 à 1,97) et aux nourrissons dont le diagnostic n’était pas concluant (risque relatif de 3,30; IC à 95 % de 1,34 à 8,16).

Conclusion: La plupart des PSP ont indiqué leur réceptivité à traiter dans une certaine mesure des nourrissons ayant reçu une gamme de résultats au DN de la FK. Il est préoccupant que certains aient indiqué que les porteurs de la FK devraient nécessiter l’implication de spécialistes et que seulement la moitié d’entre eux se sentaient extrêmement ou très confiants au sujet de la rassurance des familles concernant le fait d’être porteur. Cette situation soulève des questions entourant une médicalisation possible de ceux qui sont porteurs, et la nécessité d’une éducation des PSP au sujet des troubles génétiques et de la signification des résultats des tests génétiques.

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References

1. Newborn Screening Ontario [website]. Ottawa, ON: Newborn Screening Ontario. Available from: www.newbornscreening.on.ca. Accessed 2018 Jul 4.
1. Tluczek A, Orland KM, Cavanagh L.. Psychosocial consequences of false-positive newborn screens for cystic fibrosis. Qual Health Res 2011;21(2):174-86. Epub 2010 Sep 17. - PMC - PubMed
1. Bombieri C, Seia M, Castellani C.. Genotypes and phenotypes in cystic fibrosis and cystic fibrosis transmembrane regulator-related disorders. Semin Respir Crit Care Med 2015;36(2):180-93. Epub 2015 Mar 31. - PubMed
1. Dupuis A, Hamilton D, Cole DEC, Corey M.. Cystic fibrosis birth rates in Canada: a decreasing trend since the onset of genetic testing. J Pediatr 2005;147(3):312-5. - PubMed
1. Castellani C, Southern KW, Brownlee K, Dankert Roelse J, Duff A, Farrell M, et al. . European best practice guidelines for cystic fibrosis neonatal screening. J Cyst Fibros 2009;8(3):153-73. Epub 2009 Feb 26. - PubMed

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[1] Newborn Screening Ontario [website]. Ottawa, ON: Newborn Screening Ontario. Available from: www.newbornscreening.on.ca. Accessed 2018 Jul 4.

[2] Newborn Screening Ontario [website]. Ottawa, ON: Newborn Screening Ontario. Available from: www.newbornscreening.on.ca. Accessed 2018 Jul 4.

[3] Tluczek A, Orland KM, Cavanagh L.. Psychosocial consequences of false-positive newborn screens for cystic fibrosis. Qual Health Res 2011;21(2):174-86. Epub 2010 Sep 17. - PMC - PubMed

[4] Tluczek A, Orland KM, Cavanagh L.. Psychosocial consequences of false-positive newborn screens for cystic fibrosis. Qual Health Res 2011;21(2):174-86. Epub 2010 Sep 17. - PMC - PubMed

[5] Bombieri C, Seia M, Castellani C.. Genotypes and phenotypes in cystic fibrosis and cystic fibrosis transmembrane regulator-related disorders. Semin Respir Crit Care Med 2015;36(2):180-93. Epub 2015 Mar 31. - PubMed

[6] Bombieri C, Seia M, Castellani C.. Genotypes and phenotypes in cystic fibrosis and cystic fibrosis transmembrane regulator-related disorders. Semin Respir Crit Care Med 2015;36(2):180-93. Epub 2015 Mar 31. - PubMed

[7] Dupuis A, Hamilton D, Cole DEC, Corey M.. Cystic fibrosis birth rates in Canada: a decreasing trend since the onset of genetic testing. J Pediatr 2005;147(3):312-5. - PubMed

[8] Dupuis A, Hamilton D, Cole DEC, Corey M.. Cystic fibrosis birth rates in Canada: a decreasing trend since the onset of genetic testing. J Pediatr 2005;147(3):312-5. - PubMed

[9] Castellani C, Southern KW, Brownlee K, Dankert Roelse J, Duff A, Farrell M, et al. . European best practice guidelines for cystic fibrosis neonatal screening. J Cyst Fibros 2009;8(3):153-73. Epub 2009 Feb 26. - PubMed

[10] Castellani C, Southern KW, Brownlee K, Dankert Roelse J, Duff A, Farrell M, et al. . European best practice guidelines for cystic fibrosis neonatal screening. J Cyst Fibros 2009;8(3):153-73. Epub 2009 Feb 26. - PubMed

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Newborn screening for cystic fibrosis: Role of primary care providers in caring for infants with positive screening results

Affiliations

Newborn screening for cystic fibrosis: Role of primary care providers in caring for infants with positive screening results

Authors

Affiliations

Abstract
in English, French

Similar articles

Cited by

References

MeSH terms

LinkOut - more resources

Full Text Sources

Medical

Research Materials

Miscellaneous

Abstract in English, French

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Cited by

References

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Related information

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Full Text Sources

Medical

Research Materials

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Abstract
in English, French