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.
Newborn screening (NBS) programs target serious treatable disorders that are not clinically evident in the newborn period. Newborn Screening Ontario (NSO) is the provincially funded program in Ontario that screens for rare diseases, including metabolic and endocrine diseases, sickle cell disease, cystic fibrosis (CF), severe combined immune deficiency, and spinal muscular atrophy, from the dried blood-spot sample collected at 1 to 2 days of age. In addition, there is bedside critical congenital heart disease screening through pulse oximetry.1 Services are centralized and coordinated by NSO.
Ongoing expansion of NBS panels results in increased numbers of infants with positive results, including carriers of genetic disorders and individuals with indeterminate results. We studied CF as an exemplar of potential health system consequences of NBS expansion.
Cystic fibrosis is an inherited disease caused by mutations in the CFTR gene, resulting in impaired cellular electrolyte transfer. This causes abnormally thick mucus secretions in the respiratory, digestive, and reproductive systems.2 Classic symptoms include lung infections and nutritional malabsorption. The incidence is about 1 in 2500 births in white populations3 and 1 in 3600 in Canada.4 Early diagnosis and treatment improve length and quality of life for people with CF, but life expectancy is shortened. Cystic fibrosis is autosomal recessive; 2 faulty copies of the CFTR gene are necessary to have the disease, 1 from each parent. Newborn screening identifies those with CF but also identifies some heterozygote carriers (1 copy of the faulty CFTR gene) and infants with nonclassic disease. In Ontario, NBS consists of screening for elevated immunoreactive trypsinogen (IRT), and if the IRT level is elevated, DNA CFTR mutation analysis is performed. Confirmatory sweat chloride testing follows if there is an elevated IRT level and 1 or 2 mutations are found. The final diagnosis can be confirmed CF (abnormal sweat test result), inconclusive screen-positive CF (an equivocal sweat test result), or CF carrier (normal sweat test result). Carriers do not have, and will not develop, CF. The importance is that 1 parent is usually also a CF carrier, and the couple, the infant later in life, and possibly extended family could be at risk of conceiving a child with CF.5 Many studies have shown that parents report high anxiety or depression in reaction to positive CF NBS results, but most are relieved upon receiving normal sweat test results.6-10
In Ontario, infants receive care from publicly funded FPs, pediatricians (PEDs), or midwives (MWs). Midwives generally provide infant care for only the first 6 weeks of life. We are interested in how genetic testing, particularly NBS, affects the health care system, such as where and by whom care is provided. This is important as FPs and MWs might need to provide care for infants with positive NBS results, particularly in rural or remote areas where there are fewer PEDs. To this end, we explored care pathways for infants with positive screening results for CF on NBS, after confirmatory testing.
The objective of this study was to explore primary care providers’ (PCPs’) preferred roles in caring for infants who receive a positive CF NBS result and are confirmed to have CF, have an inconclusive CF diagnosis, or are CF carriers.
METHODS
Study design
This is part of a longitudinal cohort study investigating the effects of CF NBS on families, health care providers, and health services in Ontario.10-12 We received research ethics board approval from the University of Toronto in Ontario, the Children’s Hospital of Eastern Ontario in Ottawa, and the Hospital for Sick Children in Toronto.
Sample and recruitment
We recruited PCPs (FPs, PEDs, MWs) identified by NSO as having had an infant with a positive CF NBS result in their practice in the previous 6 months. They were prospectively recruited between January 2012 and October 2013 (rolling, batched monthly) and mailed the survey package. Primary care providers were excluded if they did not practise in Ontario, or if the identified infant was younger than 33 weeks’ gestation or deceased. The survey package included a self-complete questionnaire and a financial incentive (coffee shop coupon). We adapted the Dillman tailored design method: study notification letter and up to 3 reminder survey packages over 10 weeks. Completion and return of the questionnaire indicated consent to participate.
Data collection
We developed a structured, self-complete questionnaire that asked PCPs about their preferred role in providing routine well-baby care (eg, anticipatory guidance, administering vaccines, assessing growth and development) and care for minor acute illnesses (eg, upper respiratory tract infections, diarrhea) for infants confirmed to have CF, those with an inconclusive diagnosis of CF, and those who are carriers of CF. The questionnaire also assessed awareness of NBS conditions, whether participants believed they had an important role in NBS, their confidence in reassuring parents about the health of CF carriers and in discussing the relevance of carrier status for family planning, their ability to order CF carrier testing or refer for CF prenatal diagnosis, and demographic questions. Some questions were adapted from questionnaires used with similar study populations13-21 or studies assessing similar PCP roles.22-24 We pilot-tested the questionnaire with 15 PCPs. Midwives responded based on their care of infants during the first 6 weeks of life.
Analysis
Questionnaire data were entered into and analyzed using IBM SPSS, version 18. Double data entry was performed for 10% of the sample, with an error rate of less than 0.5%. We computed proportions, comparing across PCP groups using 
2 and Fisher exact tests. Two-sided P values less than .05 indicated statistical significance. We looked at factors associated with PCPs providing total care versus providing shared and referred care for 4 clinical models.
Model 1: well-baby care for infants who are CF carriers;
Model 2: minor acute illness care for infants who are CF carriers;
Model 3: well-baby care for infants who have an inconclusive CF diagnosis; and
Model 4: minor acute illness care for infants who have an inconclusive CF diagnosis.
We used robust Poisson regression to analyze association of beliefs, confidence, and practice factors with self-reported approach to care of infants who were carriers or who had an inconclusive diagnosis. Informed by the literature, all variables were prespecified and entered into the adjusted regression model. All significant results are reported.
RESULTS
Of 628 eligible PCPs, 321 (51%) completed surveys (208 FPs, 68 PEDs, 45 MWs). Demographic characteristics varied across provider type; however, most respondents were non-academic, in group practice, non–fee-for-service, urban, and female (Table 1).
Sample characteristics
For infants confirmed to have CF, most PCPs (77%) indicated they would not provide total well-baby care (Table 2). Most PCPs (68%) would share well-baby care with a specialist or subspecialist for infants confirmed to have CF (74% of FPs, 44% of PEDs, and 79% of MWs). Slightly more than half of PCPs (54%) would provide total care for minor illnesses for these infants (54% of FPs, 85% of PEDs, and 4% of MWs). For infants with an inconclusive diagnosis of CF, half of PCPs would provide total well-baby care (50% of FPs, 68% of PEDs, and 22% of MWs), and most (67%) would provide total care for minor illnesses (74% of FPs, 87% of PEDs, and 4% MWs). For infants who are CF carriers, 89% of PCPs would provide total well-baby care but 9% would share well-baby care with a specialist and 2% would refer totally to a specialist for well-baby care. By far most (84%) would provide total care to CF carriers for minor illnesses (97% of FPs, 94% of PEDs, and 9% of MWs), with 11% sharing care and 5% referring to specialists. Pediatricians were more disposed to provide care independently for infants with confirmed CF or inconclusive diagnoses, while MWs were less disposed to provide care independently for these children.
Primary care providers’ perspectives on their role in caring for children who have positive screening results for CF
Slightly more than half the respondents (54%) were extremely or very confident in reassuring parents about the health of infants who were CF carriers (Table 3). Similarly, 59% were extremely or very confident in explaining the relevance of carrier status for family planning. Approximately 25% said they knew how to order CF carrier testing for adults, and 67% knew how to refer for prenatal diagnosis of CF.
Primary care providers’ perspectives and confidence related to NBS and CF carrier status
Factors that were significant predictors of providing total care (well-baby or minor illness care) for infants who are CF carriers or have an inconclusive diagnosis of CF are shown in Table 4. Primary care providers were significantly more likely to provide total well-baby (risk ratio of 1.50; 95% CI 1.14 to 1.97) or minor illness care (risk ratio of 1.26; 95% CI 1.02 to 1.56) for infants who were CF carriers if they were extremely or very confident, or moderately confident, respectively, in reassuring parents about the health of infants who were CF carriers. They were significantly less likely to provide total care if they were MWs. There were no other consistent predictors of care across the 4 models.
Factors associated with PCPs providing total care vs shared and referred care
DISCUSSION
Most providers indicated willingness to provide care in some capacity for infants with screen-positive CF NBS results. Most PCPs would either share care with a specialist or provide total well-baby or minor illness care for infants with confirmed CF. Most PEDs indicated they would provide total care (well-baby and minor illness) for infants with confirmed CF, which is not surprising, given their training and expertise. Family physicians appeared to be more comfortable providing total well-baby and minor illness care for infants with an inconclusive diagnosis (50% and 74%, respectively) compared with infants with confirmed CF (17% and 54%, respectively). Some providers would share or refer for well-baby (11%) and minor illness (16%) care for infants who are carriers of CF—who are healthy infants. Only half of FPs (52%) and a third of MWs (31%) were very confident explaining the meaning of CF carrier status.
This study builds on literature showing that PCPs acknowledge a responsibility to integrate genetics into their practices,25,26 but that they report limited knowledge.25-27 Most NBS literature addresses PCPs’ roles and challenges in notifying families about NBS results, with evidence of misconception about the conditions in NBS panels13 and lack of perceived competence to discuss the meaning of positive screening results or confirmatory test results.28 Studies have not addressed care of infants with confirmed, inconclusive, or carrier diagnoses. Specifically addressing CF, PCPs’ lack of knowledge has been found in surveys regarding positive CF NBS results and carrier screening, including misperceptions about recessive inheritance.29
Midwives’ responses might reflect guidelines that limit their scope of practice to caring for babies without abnormalities or disorders. Enabling midwifery care in this context requires clarity that carrier infants do not have a disorder. As Ontario MWs care for infants for only the first 6 weeks following birth, they would be less involved in ongoing well-baby and minor illness care. Despite limits on scope and duration of involvement, being able to explain the meaning of CF carrier status is still important for MWs. A competency-based framework in genetics has been developed in the United Kingdom for midwifery education and practice, recognizing the role that MWs have in this area.30
The findings of this study have implications for both the NBS system and future genomic or personalized medicine tests that reveal carrier status, as some studies suggest that 2% of healthy individuals might be carriers of recessive pathogenic disease alleles.31 There is a need for PCP education about the meaning of inconclusive and carrier results. Guidelines should be developed for addressing inconclusive NBS results, articulating how they should be interpreted and in what situations specialists or PCPs should be involved in care plans.5 Care maps would be useful for patients who live in rural or remote areas who cannot readily access specialists or to determine when telemedicine might be a care alternative. Education of PCPs regarding carrier status is vital to improving confidence in providing care, patient education, and referring for family cascade testing and prenatal testing.29
Reviews of the psychological effects of infant carrier status on parents have shown that although most understand its benign implications, some retain misconceptions, have lingering anxiety about their children’s health, and have longer-term concerns about stigma and reproductive implications.2,5,8 It is important that PCPs communicate to parents that infants who are CF carriers are healthy and do not have CF.5 Some studies have also shown unexpectedly high documented illness frequency among CF carrier infants32 and higher numbers of outpatient visits and hospitalization,11 raising the question of heightened perceptions of vulnerability among healthy infants by parents and health care providers. This highlights the important PCP role in informing families about NBS results and thus the need to be familiar with NBS disorders and the meaning of false-positive and carrier test results.33 Point-of-care information tools for providers and written and Web-based information for parents developed by various organizations1 can help ensure that the meaning of results is well understood by both parties.8,34
Limitations
Respondents in this study might be more familiar with CF than average PCPs, as they had recently had an infant in their practice with a positive NBS result for CF. Responses reflect intention to provide care not actual care delivery.
Conclusion
Few studies have examined PCPs’ preferred practices with infants with CF or carriers of genetic disorders. This study found that most PCPs are willing to care for infants with a range of screen-positive CF NBS results in some capacity. However, providers’ lack of confidence to reassure about carrier status raises issues about its possible medicalization, prompting the need for specific PCP education about genetic disorders and the meaning of genetic test results, particularly carrier status. This will become increasingly important as genome-wide sequencing strategies enter NBS algorithms.35 Education and care guidelines for children with CF or inconclusive CF diagnoses would enable PCPs to provide well-baby and minor illness care with more confidence, particularly in rural and remote areas.
Acknowledgment
This study was funded by the Canadian Institutes of Health Research.
Notes
Editor’s key points
▸ Ongoing expansion of newborn screening (NBS) panels is resulting in increased numbers of infants with positive results, including carriers of genetic disorders and individuals with indeterminate results. This study explored cystic fibrosis (CF) as an exemplar of potential health system consequences of NBS expansion, examining primary care providers’ preferred role and confidence in caring for infants receiving positive NBS results for CF.
▸ Overall, 77% of primary care providers indicated that they would not provide all well-baby care for infants with a confirmed diagnosis of CF, but most would share care with other specialists. Pediatricians were more disposed to provide care independently for infants with confirmed or inconclusive diagnoses, while midwives were less disposed to provide care independently.
▸ Primary care providers were significantly more likely to provide total well-baby or minor illness care for infants who were CF carriers if they were confident in reassuring parents about the health of infants who were carriers. Midwives were significantly less likely to provide total care, but are generally only involved in care in the first 6 weeks of life.
Points de repère du rédacteur
▸ L’élargissement continuel des volets du dépistage néonatal (DN) se traduit par un plus grand nombre de nouveau-nés dont les résultats sont positifs, y compris des porteurs de troubles génétiques et d’autres dont les résultats sont indéterminés. Cette étude se penchait sur la fibrose kystique (FK) en guise d’exemple des conséquences potentielles dans le système de santé de l’expansion du DN, en examinant le rôle privilégié par les professionnels des soins primaires et leur confiance à s’occuper des nourrissons qui ont reçu des résultats positifs au DN de la FK.
▸ Dans l’ensemble, 77 % des professionnels des soins primaires ont indiqué qu’ils n’offriraient pas de soins de puériculture à des nourrissons ayant un diagnostic confirmé de FK, mais la plupart d’entre eux partageraient les soins avec d’autres spécialistes. Les pédiatres étaient plus disposés à prodiguer des soins de manière indépendante aux nourrissons ayant un diagnostic confirmé ou non concluant, tandis que les sagesfemmes étaient moins réceptives à la prestation de soins de manière indépendante.
▸ Il était significativement plus probable que les professionnels des soins primaires fournissent tous les soins de puériculture ou pour des maladies mineures aux nourrissons porteurs de la FK s’ils avaient confiance de pouvoir rassurer les parents à propos de la santé des nourrissons porteurs. Les sagesfemmes étaient significativement moins susceptibles de fournir l’ensemble des soins, mais elles ne sont généralement impliquées que durant les 6 premières semaines de vie.
Footnotes
Contributors
All authors were involved in the design of the study and reviewed and edited the manuscript. Drs Carroll, Hayeems, Miller, Bombard, Potter, and Guttmann and Ms Barg were involved in the analysis and Drs Carroll, Hayeems, Miller, Bombard, Potter, and Guttmann were involved in writing the manuscript.
Competing interests
None declared
This article has been peer reviewed.
Cet article a fait l’objet d’une révision par des pairs.
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