Primary care providers' role in newborn screening result notification for cystic fibrosis
Robin Z Hayeems1, Fiona A Miller2, Carolyn J Barg3
1Scientist 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.
Insights
Most primary care providers (PCPs) notify families of cystic fibrosis (CF) newborn screening (NBS) results and value this role. Enhanced support and clear communication from NBS centers are crucial for PCPs’ confidence and involvement.
Area of Science:
- Genetics and Genomics
- Public Health
- Pediatrics
Background:
- Expanded newborn screening (NBS) for cystic fibrosis (CF) increases positive results, highlighting the critical role of primary care providers (PCPs) in family support.
- Effective communication of NBS results is essential for timely intervention and family well-being.
Purpose of the Study:
- To investigate the role of PCPs in notifying families about positive NBS results for CF.
- To understand PCP perspectives on their involvement in NBS result communication and identify factors influencing notification practices.
Main Methods:
- A cross-sectional survey of 321 PCPs (family physicians, pediatricians, midwives) in Ontario.
- Qualitative interviews with 34 PCPs to explore experiences and challenges in result notification.
- Analysis focused on whether PCPs notified families of initial positive CF NBS results.
Main Results:
- The majority of surveyed PCPs (65%) reported notifying families of positive CF NBS results.
- Most PCPs (81%) believe they play an important role in NBS and prefer notifying families themselves (88%).
- PCP confidence in notification increased with support from NBS centers, with written and verbal information being more effective than written information alone.
Conclusions:
- PCPs actively participate in and value their role in communicating NBS results.
- Effective NBS programs require strong PCP engagement, supported by clear communication protocols and resources from NBS centers.
- Findings are relevant for expanding NBS programs and other genomic services to ensure sustained PCP involvement.
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.
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