Primary care providers' role in newborn screening result notification for cystic fibrosis

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

doi:10.46747/cfp.6706439

Primary care providers' role in newborn screening result notification for cystic fibrosis

Can Fam Physician. 2021 Jun;67(6):439-448. doi: 10.46747/cfp.6706439.

Authors

Robin Z Hayeems¹, Fiona A Miller², Carolyn J Barg³, Yvonne Bombard⁴, Pranesh Chakraborty⁵, Beth K Potter⁶, Sarah Patton⁷, Jessica Peace Bytautas⁸, Karen Tam⁹, Louise Taylor¹⁰, Elizabeth Kerr¹¹, Christine Davies¹², Jennifer Milburn¹³, Felix Ratjen¹⁴, Astrid Guttmann¹⁵, June C Carroll¹⁶

Affiliations

¹ Scientist in the Child Health Evaluative Sciences Program at the Hospital for Sick Children in Toronto, Ont, and Associate Professor in the Institute of Health Policy, Management and Evaluation at the University of Toronto. robin.hayeems@sickkids.ca.
² 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.
³ Research analyst at Health Quality Ontario in Toronto.
⁴ 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.
⁵ 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.
⁶ 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.
⁷ Research Officer in the Institute of Health Policy, Management and Evaluation at the University of Toronto at the time of the study.
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.
¹⁶ 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.

Abstract
in English, French

Objective: To explore primary care providers' (PCPs') role in result notification for newborn screening (NBS) for cystic fibrosis (CF), given that expanded NBS has increased the number of positive screening test results, drawing attention to the role of PCPs in supporting families.

Design: Cross-sectional survey and qualitative interviews.

Setting: Ontario.

Participants: Primary care providers (FPs, pediatricians, and midwives) who received a positive CF NBS result for an infant in their practice in the 6 months before the study.

Main outcome measures: Whether the PCP notified the family of the initial positive CF screening result.

Results: Data from 321 PCP surveys (response rate of 51%) are reported, including 208 FPs, 68 pediatricians, and 45 midwives. Interviews were completed with 34 PCPs. Most (65%) surveyed PCPs reported notifying the infant's family of the initial positive screening result; 81% agreed that they have an important role to play in NBS; and 88% said it was important for PCPs, rather than the NBS centre, to notify families of initial positive results. With support and information from NBS centres, 68% would be extremely or very confident in doing so; this dropped to 54% when reflecting on their recent reporting experience. More than half (58%) of all PCPs said written point-of-care information from the NBS centre was the most helpful format. Adjusted for relevant factors, written educational information was associated with a lower rate of notifying families than written plus verbal information (risk ratio of 0.79; 95% CI 0.69 to 0.92). In the interviews, PCPs emphasized the challenge of balancing required content knowledge with the desire for the news to come from a familiar provider.

Conclusion: Most PCPs notify families of NBS results and value this role. These data are relevant as NBS programs and other genomic services expand and consider ways of keeping PCPs confident and actively involved.

Objectif: Explorer le rôle des professionnels des soins primaires (PSP) dans la communication des résultats du dépistage néonatal (DN) de la fibrose kystique (FK), étant donné que le DN élargi a augmenté le nombre de résultats de tests de dépistage positifs et a attiré l’attention sur le rôle des PSP dans le soutien aux familles.

Type d’étude: Sondage transversal et entrevues qualitatives.

Contexte: Ontario.

Participants: Les professionnels des soins primaires (MF, pédiatres et sagesfemmes) qui ont reçu des résultats de DN de la FK pour un nouveau-né dans leur pratique durant les 6 mois précédant l’étude.

Principaux paramètres à l’étude: La communication à la famille par le PSP des résultats positifs initiaux du dépistage de la FK.

Résultats: Les données tirées de sondages auprès de 321 PSP (taux de réponse de 51 %) sont rapportées, venant notamment de 208 MF, 68 pédiatres et 45 sagesfemmes. Des entrevues ont été effectuées avec 34 PSP. La plupart (65 %) des PSP qui ont répondu au sondage ont signalé avoir communiqué les résultats positifs initiaux à la famille du nouveau-né; 81 % ont convenu qu’ils avaient un rôle important à jouer dans le DN; et 88 % ont dit qu’il était très important que les PSP, plutôt que les centres de DN, avertissent les familles des résultats positifs initiaux. S’ils disposaient du soutien et de renseignements des centres de DN, 68 % seraient extrêmement ou très à l’aise de le faire; ce pourcentage a baissé à 50 % lorsque les PSP se sont rappelé leur récente expérience de communication. Environ la moitié (52 %) de tous les PSP ont indiqué que des renseignements par écrit au point de service étaient la forme la plus utile. Après rajustement en fonction des facteurs pertinents, des renseignements éducatifs par écrit étaient associés à un taux plus faible de communication avec les familles que de l’information écrite accompagnée par des renseignements verbaux (risque relatif de 0,79; IC à 95 % de 0,69 à 0,92). Dans les entrevues, les PSP ont insisté sur le défi que représente un juste équilibre entre les connaissances requises du sujet et le désir que les résultats soient communiqués par un professionnel connu de la famille.

Conclusion: La plupart des PSP communiquent aux familles les résultats du DN et valorisent ce rôle. Ces données sont d’autant plus pertinentes que les programmes de DN et d’autres services génomiques prennent de l’expansion et envisagent des façons de préserver la confiance des PSP et leur implication active.

MeSH terms

Cross-Sectional Studies
Cystic Fibrosis* / diagnosis
Humans
Infant
Infant, Newborn
Neonatal Screening*
Ontario
Primary Health Care

Abstract in English, French

MeSH terms

Abstract
in English, French