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Research ArticleResearch

Newborn screening for cystic fibrosis

Role of primary care providers in caring for infants with positive screening results

June C. Carroll, Robin Z. Hayeems, Fiona A. Miller, Carolyn J. Barg, Yvonne Bombard, Pranesh Chakraborty, Beth K. Potter, Jessica Peace Bytautas, Karen Tam, Louise Taylor, Elizabeth Kerr, Christine Davies, Jennifer Milburn, Felix Ratjen and Astrid Guttmann
Canadian Family Physician June 2021; 67 (6) e144-e152; DOI: https://doi.org/10.46747/cfp.6706e144
June C. Carroll
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.
MD CCFP FCFP
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  • For correspondence: june.carroll@sinaihealth.ca
Robin Z. Hayeems
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.
ScM PhD
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Fiona A. Miller
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.
PhD
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Carolyn J. Barg
Research analyst at Health Quality Ontario in Toronto.
MSc
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Yvonne Bombard
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.
PhD
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Pranesh Chakraborty
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.
MD FRCPC FCCMG
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Beth K. Potter
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.
PhD
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Jessica Peace Bytautas
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.
MA
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Karen Tam
Certified genetic counselor and screening specialist at Newborn Screening Ontario.
ScM
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Louise Taylor
Nurse practitioner with expertise in caring for children with cystic fibrosis at the Hospital for Sick Children.
MN
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Elizabeth Kerr
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.
PhD
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Christine Davies
Certified genetic counselor in Ottawa.
MSc
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Jennifer Milburn
Operations Director for Newborn Screening Ontario.
MHA
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Felix Ratjen
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.
MD FRCPC
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Astrid Guttmann
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.
MSc MD CM
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Article Figures & Data

Tables

    • View popup
    Table 1.

    Sample characteristics

    CHARACTERISTICFAMILY PHYSICIANS
    n (%), N = 208*
    PEDIATRICIANS
    n (%), N = 68*
    MIDWIVES
    n (%), N = 45
    TOTAL
    n (%), N = 321*
    Practice setting
      • Academic†8 (3.8)4 (5.9)0 (0.0)12 (3.7)
      • Non-academic200 (96.2)64 (94.1)45 (100.0)309 (96.3)
    Practice type
      • Solo40 (19.2)41 (61.2)1 (2.2)82 (25.6)
      • Group‡168 (80.8)26 (38.8)44 (97.8)238 (74.4)
    Method of reimbursement
      • Fee-for-service§62 (29.8)62 (91.2)0 (0.0)124 (38.6)
      • Non–fee-for-service146 (70.2)6 (8.8)45 (100.0)197 (61.4)
    Practice location
      • Urban123 (59.4)58 (85.3)33 (73.3)214 (66.9)
      • Rural84 (40.6)10 (14.7)12 (26.7)106 (33.1)
    Years in practice
      • 0-1583 (39.9)26 (38.2)40 (88.9)149 (46.4)
      • ≥ 16125 (60.1)42 (61.8)5 (11.1)172 (53.6)
    Sex
      • Female130 (62.8)28 (41.2)45 (100.0)203 (63.4)
      • Male77 (37.2)40 (58.8)0 (0.0)117 (36.6)
    Practice-based exposure to …
      • CF58 (28.0)37 (54.4)10 (22.7)105 (32.9)
      • CF carrier66 (32.2)34 (52.3)22 (51.2)122 (39.0)
      • NBS results positive for CF47 (22.7)33 (50.0)26 (59.1)106 (33.4)
      • NBS results positive for another disorder85 (41.1)53 (80.3)30 (69.8)168 (53.2)
    • CF—cystic fibrosis, NBS—newborn screening.

    • ↵*Denominators vary owing to missing data.

    • ↵†Includes providers who see any patients in academic health sciences centres.

    • ↵‡Includes interprofessional practice as well as single-discipline group practice.

    • ↵§Includes providers who reported any fee-for-service. Midwives in Ontario are publicly funded but not fee-for-service.

    • View popup
    Table 2.

    Primary care providers’ perspectives on their role in caring for children who have positive screening results for CF

    ROLESTOTAL
    n (%), N = 321*
    FAMILY PHYSICIANS
    n (%), N = 208*
    PEDIATRICIANS
    n (%), N = 68*
    MIDWIVES
    n (%), N = 45*
    P VALUE†
    What role would you have in providing routine WBC for ...
    Infants confirmed to have CF< .001
      • Provide total WBC73 (23.0)35 (17.0)37 (54.4)1 (2.3)
      • Share WBC with specialist or subspecialist216 (68.1)152 (73.8)30 (44.1)34 (79.1)
      • Refer WBC to specialist or subspecialist28 (8.8)19 (9.2)1 (1.5)8 (18.6)
    Infants with an inconclusive diagnosis of CF< .001
      • Provide total WBC158 (49.5)102 (49.5)46 (67.6)10 (22.2)
      • Share WBC with specialist or subspecialist144 (45.1)99 (48.1)21 (30.9)24 (53.3)
      • Refer WBC to specialist or subspecialist17 (5.3)5 (2.4)1 (1.5)11 (24.4)
    Infants who are CF carriers< .001
      • Provide total WBC284 (89.3)196 (94.7)61 (92.4)27 (60.0)
      • Share WBC with specialist or subspecialist27 (8.5)11 (5.3)1 (1.5)15 (33.3)
      • Refer WBC to specialist or subspecialist7 (2.2)0 (0.0)4 (6.1)3 (6.7)
    What role would you have in providing care for minor acute illnesses for ...
    Infants confirmed to have CF< .001
      • Provide total care for minor acute illnesses171 (53.6)112 (54.1)57 (85.1)2 (4.4)
      • Share care for minor illnesses with specialist or subspecialist113 (35.4)84 (40.6)10 (14.9)19 (42.2)
      • Refer care for minor illnesses to specialist or subspecialist35 (11.0)11 (5.3)0 (0.0)24 (53.3)
    Infants with an inconclusive diagnosis of CF< .001
      • Provide total care for minor acute illnesses214 (67.1)154 (74.4)58 (86.6)2 (4.4)
      • Share care for minor illnesses with specialist or subspecialist84 (26.3)53 (25.6)9 (13.4)22 (48.9)
      • Refer care for minor illnesses to specialist or subspecialist21 (6.6)0 (0.0)0 (0.0)21 (46.7)
    Infants who are CF carriers< .001
      • Provide total care for minor illnesses265 (83.6)200 (96.6)61 (93.8)4 (8.9)
      • Share care for minor illnesses with specialist or subspecialist36 (11.4)7 (3.4)1 (1.5)28 (62.2)
      • Refer care for minor illnesses to specialist or subspecialist16 (5.0)0 (0.0)3 (4.6)13 (28.9)
    • CF—cystic fibrosis, WBC—well-baby care.

    • ↵*Denominators vary owing to missing data.

    • ↵†Fisher exact test for difference in proportions across professions.

    • View popup
    Table 3.

    Primary care providers’ perspectives and confidence related to NBS and CF carrier status

    FACTORTOTAL
    n (%), N = 321*
    FAMILY PHYSICIANS
    n (%), N = 208*
    PEDIATRICIANS
    n (%), N = 68*
    MIDWIVES
    n (%), N = 45*
    P VALUE
    Up to date on NBS< .001†
      • Strongly agree or agree182 (57.6)90 (43.7)57 (85.1)35 (81.4)
      • Strongly disagree, disagree, or neutral134 (42.4)116 (56.3)10 (14.9)8 (18.6)
    Important role in NBS< .001†
      • Strongly agree or agree256 (80.8)153 (74.3)59 (88.1)44 (100.0)
      • Strongly disagree, disagree, or neutral61 (19.2)53 (25.7)8 (11.9)0 (0.0)
    Confidence in providing reassurance about health of CF carrier< .001†
      • Extremely or very confident172 (53.9)107 (51.7)51 (76.1)14 (31.1)
      • Moderately, not very, or not at all confident147 (46.1)100 (48.3)16 (23.9)31 (68.9)
    Within scope to provide reassurance about health of CF carrier.001†
      • Yes268 (88.2)176 (88.9)60 (96.8)32 (72.7)
      • No36 (11.8)22 (11.1)2 (3.2)12 (27.3)
    Confidence in explaining relevance of carrier status to family planning.009‡
      • Extremely or very confident187 (58.6)112 (54.1)52 (77.6)23 (51.1)
      • Moderately confident109 (34.2)78 (37.7)13 (19.4)18 (40.0)
      • Not very or not at all confident23 (7.2)17 (8.2)2 (3.0)4 (8.9)
    Within scope to explain relevance of carrier status.39†
      • Yes269 (84.6)177 (85.9)57 (85.1)35 (77.8)
      • No49 (15.4)29 (14.1)10 (14.9)10 (22.2)
    Know how to order CF carrier testing for adults.006†
      • Yes79 (24.9)60 (29.4)16 (23.5)3 (6.7)
      • No238 (75.1)144 (70.6)52 (76.5)42 (93.3)
    Within scope to order CF carrier testing for adults<. 001†
      • Yes150 (47.9)132 (65.7)15 (22.4)3 (6.7)
      • No163 (52.1)69 (34.3)52 (77.6)42 (93.3)
    Know how to refer for prenatal diagnosis related to CF<. 001†
      • Yes213 (67.0)132 (64.4)39 (57.4)42 (93.3)
      • No105 (33.0)73 (35.6)29 (42.6)3 (6.7)
    Within scope to refer for prenatal diagnosis related to CF<. 001†
      • Yes257 (81.1)176 (85.9)37 (55.2)44 (97.8)
      • No60 (18.9)29 (14.1)30 (44.8)1 (2.2)
    • CF—cystic fibrosis, NBS—newborn screening.

    • ↵*Denominators vary owing to missing data.

    • ↵†Embedded Image2 test.

    • ↵‡Fisher exact test.

    • View popup
    Table 4.

    Factors associated with PCPs providing total care vs shared and referred care

    FACTORMODEL 1: PCP PROVIDING TOTAL* WBC FOR INFANTS WHO ARE CF CARRIERS, ADJUSTED RR (95% CI)MODEL 2: PCP PROVIDING TOTAL* ACUTE MINOR ILLNESS CARE FOR INFANTS WHO ARE CF CARRIERS, ADJUSTED RR (95% CI)MODEL 3: PCP PROVIDING TOTAL* WBC FOR INFANTS WHO HAVE AN INCONCLUSIVE DIAGNOSIS OF CF, ADJUSTED RR (95% CI)MODEL 4: PCP PROVIDING TOTAL* ACUTE MINOR ILLNESS CARE FOR INFANTS WHO HAVE AN INCONCLUSIVE DIAGNOSIS OF CF, ADJUSTED RR (95% CI)
    Extremely or very confident in reassuring about health of CF carrier vs not very or not at all confident1.50 (1.14-1.97)†1.21 (0.98-1.50)3.30 (1.34-8.16)†1.61 (1.03-2.52)†
    Moderately confident in reassuring about health of CF carrier vs not very or not at all confident1.44 (1.10-1.90)†1.26 (1.02-1.56)†4.08 (1.68-9.92)†1.89 (1.21-2.95)†
    Population served: urban vs rural0.92 (0.86-0.99)†0.95 (0.89-1.02)0.93 (0.72-1.19)0.94 (0.81-1.10)
    Female vs male1.16 (1.07-1.26)†1.08 (1.00-1.16)†1.06 (0.84-1.33)0.92 (0.80-1.06)
    Midwives vs family physicians and pediatricians‡0.72 (0.56-0.94)†0.12 (0.05-0.31)§0.46 (0.22-0.98)†0.08 (0.02-0.32)§
    Within scope to provide reassurance about health of CF carrier: yes vs no1.17 (0.94-1.47)1.02 (0.90-1.14)0.64 (0.43-0.97)†0.89 (0.69-1.16)
    Child in practice with positive NBS result for CF: yes vs no1.05 (0.95-1.17)1.06 (0.97-1.15)1.09 (0.82-1.44)1.32 (1.12-1.55)†
    • CF—cystic fibrosis, NBS—newborn screening, PCP—primary care provider, RR— risk ratio, WBC—well-baby care.

    • ↵*Total care vs combined shared and referred care.

    • ↵†P < .05.

    • ↵‡Differences between family physicians vs midwives and pediatricians, and pediatricians vs midwives and family physicians were not significant.

    • ↵§P < .01.

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Canadian Family Physician: 67 (6)
Canadian Family Physician
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Newborn screening for cystic fibrosis
June C. Carroll, Robin Z. Hayeems, Fiona A. Miller, Carolyn J. Barg, Yvonne Bombard, Pranesh Chakraborty, Beth K. Potter, Jessica Peace Bytautas, Karen Tam, Louise Taylor, Elizabeth Kerr, Christine Davies, Jennifer Milburn, Felix Ratjen, Astrid Guttmann
Canadian Family Physician Jun 2021, 67 (6) e144-e152; DOI: 10.46747/cfp.6706e144

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Newborn screening for cystic fibrosis
June C. Carroll, Robin Z. Hayeems, Fiona A. Miller, Carolyn J. Barg, Yvonne Bombard, Pranesh Chakraborty, Beth K. Potter, Jessica Peace Bytautas, Karen Tam, Louise Taylor, Elizabeth Kerr, Christine Davies, Jennifer Milburn, Felix Ratjen, Astrid Guttmann
Canadian Family Physician Jun 2021, 67 (6) e144-e152; DOI: 10.46747/cfp.6706e144
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