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Diagnostic agreement among experts assessing adults presenting with possible cystic fibrosis: need for improvement and implications for patient care

Alessandro N. Franciosi, April Tanzler, Jodi Goodwin, Pearce G. Wilcox, George M. Solomon, Albert Faro, Noel G. McElvaney, Damian G. Downey, Bradley S. Quon
ERJ Open Research 2022 8: 00227-2022; DOI: 10.1183/23120541.00227-2022
Alessandro N. Franciosi
1Adult Cystic Fibrosis Clinic, St Paul's Hospital, Vancouver, BC, Canada
2Centre for Heart Lung Innovation, St Paul's Hospital and University of British Columbia, Vancouver, BC, Canada
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  • ORCID record for Alessandro N. Franciosi
April Tanzler
1Adult Cystic Fibrosis Clinic, St Paul's Hospital, Vancouver, BC, Canada
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Jodi Goodwin
1Adult Cystic Fibrosis Clinic, St Paul's Hospital, Vancouver, BC, Canada
2Centre for Heart Lung Innovation, St Paul's Hospital and University of British Columbia, Vancouver, BC, Canada
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Pearce G. Wilcox
1Adult Cystic Fibrosis Clinic, St Paul's Hospital, Vancouver, BC, Canada
2Centre for Heart Lung Innovation, St Paul's Hospital and University of British Columbia, Vancouver, BC, Canada
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George M. Solomon
3Division of Pulmonary, Allergy and Critical Care Medicine and Gregory Fleming James Cystic Fibrosis Research Center, University of Alabama at Birmingham, Birmingham, AL, USA
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Albert Faro
4Cystic Fibrosis Foundation, Bethesda, MD, USA
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Noel G. McElvaney
5Department of Medicine, Beaumont Hospital, Dublin, Ireland
6Irish Centre for Genetic Lung Disease, Royal College of Surgeons in Ireland, Dublin, Ireland
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Damian G. Downey
7Wellcome-Wolfson Institute for Experimental Medicine, Queen's University Belfast, Belfast, UK
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Bradley S. Quon
1Adult Cystic Fibrosis Clinic, St Paul's Hospital, Vancouver, BC, Canada
2Centre for Heart Lung Innovation, St Paul's Hospital and University of British Columbia, Vancouver, BC, Canada
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  • For correspondence: bradley.quon@hli.ubc.ca
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  • FIGURE 1
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    FIGURE 1

    Case-specific breakdown of a) diagnoses and b) follow-up, selected by responders. Total diagnoses=number of raters (55)×number of cases (7)=385. CF: cystic fibrosis; CFTR: CF transmembrane conductance regulator.

  • FIGURE 2
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    FIGURE 2

    Alluvial plot of the follow-up selection based on responder-selected diagnosis. 28.7% of adult cystic fibrosis (CF) diagnoses were assigned to modified CF standard of care follow-up. 22.5% of CF transmembrane conductance regulator-related disorder (CFTR-RD) diagnosis were assigned to full CF standard of care follow-up, while 80.9% of those recommended to need further testing were assigned to either no CF follow-up (21.3%) or modified CF follow-up (59.6%).

  • FIGURE 3
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    FIGURE 3

    Subjective responder agreement with statements regarding implications of increased recognition and need for cystic fibrosis transmembrane conductance regulator-related disorder (CFTR-RD) assessments. CF: cystic fibrosis.

Tables

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  • TABLE 1

    Characteristics of responders completing the study (n=55)

    TotalLocationp-value
    CanadaUK and IrelandUSA
    Location55 (100.0)15 (27.3)11 (20.0)29 (52.7)
    Years of clinical experience0.21
     <5 years10 (18.2)4 (26.7)3 (27.3)3 (10.3)
     5–10 years11 (20.0)5 (33.3)1 (9.1)5 (17.2)
     >10 years34 (61.8)6 (40.0)7 (63.6)21 (72.4)
    Estimated annual adult assessments (n)0.17
     <519 (34.5)9 (60.0)3 (27.3)7 (24.1)
     5–1019 (34.5)3 (20.0)5 (45.5)11 (37.9)
     >1017 (30.9)3 (20.0)3 (27.3)11 (37.9)

    Data are presented as n (%), unless otherwise stated.

    • TABLE 2

      Breakdown of diagnoses by responder locations, responder clinical experience and choice of follow-up based on diagnosis#

      LocationCF practice experienceStratified by follow-up selected
      CanadaUK and IrelandUSAp-value<5
       years
      5–10
       years
      >10
       years
      p-valueNo CF follow-upModified CF SOCCF SOCp-value
      Diagnoses105772037077238105154126
      Diagnosis0.0020.163<0.001
       CF39 (37.1)25 (32.5)65 (32.0)22 (31.4)29 (37.7)78 (32.8)1 (1.0)37 (24.0)91 (72.2)*
       CF diagnosis not resolved – needs further testing23 (21.9)31 (40.3)*35 (17.2)10 (14.3)21 (27.3)58 (24.4)19 (18.1)53 (34.4)*17 (13.5)
       CFTR-related disorder22 (21.0)10 (13.0)48 (23.6)15 (21.4)18 (23.4)47 (19.7)11 (10.5)51 (33.1)*18 (14.3)
       CF carrier15 (14.3)6 (7.8)26 (12.8)12 (17.1)6 (7.8)29 (12.2)38 (36.2)*9 (5.8)0 (0.0)
       None of the above6 (5.7)5 (6.5)29 (14.3)11 (15.7)3 (3.9)26 (10.9)36 (34.3)*4 (2.6)0 (0.0)

      Data are presented as n or n (%), unless otherwise stated. CF: cystic fibrosis; SOC: standard of care; CFTR: CF transmembrane conductance regulator. #: total diagnoses=number of raters (55)×number of cases (7)=385. *: significance for positive association in post hoc testing with Bonferroni corrected p-value <0.05.

      • TABLE 3

        Ratings of clinical feature contribution to supporting a “clinical presentation of CF” (n=54 responses)

        Not individually supportiveSomewhat supportiveStrongly supportiveTotal (weighted)
        Clinical features
         Pancreatic insufficiency0 (0)13 (24.07)41 (75.93)#142.5
         Infertility/CBAVD0 (0)13 (24.07)41 (75.93)#142.5
         Bronchiectasis – diffuse1 (1.85)22 (40.74)31 (57.41)#126
         Radiographic pancreatic fibrosis1 (1.85)33 (61.11)20 (37.04)109.5
         Daily sputum production6 (11.11)38 (70.37)10 (18.52)87
         Aquagenic wrinkling16 (29.63)24 (44.44)14 (25.93)78
         Frequent need for antibiotics for chest10 (18.52)36 (66.67)8 (14.81)78
         Vitamin A/E deficiency10 (18.52)38 (70.37)6 (11.11)75
         Nasal polyposis14 (25.93)32 (59.26)8 (14.81)72
         ABPA diagnosis13 (24.07)38 (70.37)3 (5.56)66
         Bronchiectasis – asymmetrical19 (35.19)27 (50)8 (14.81)64.5
         Radiographic rhinosinusitis15 (27.78)36 (66.67)3 (5.56)63
         Liver disease/steatosis/cirrhosis29 (53.7)4 (7.41)55.5
         Obstructive spirometry20 (37.04)32 (59.26)2 (3.7)54
         Osteoporosis/osteopenia32 (59.26)20 (37.04)2 (3.7)36
         Constipation37 (68.52)14 (25.93)3 (5.56)30
         Vitamin D deficiency37 (68.52)15 (27.78)2 (3.7)28.5
        Airway microbiology
         Burkholderia cepacia complex2 (3.7)14 (25.93)38 (70.37)#135
         Pseudomonas aeruginosa23 (42.59)30 (55.56)#124.5
         Stenotrophomonas maltophilia7 (12.96)31 (57.41)16 (29.63)94.5
         Mycobacterium abscessus sp.7 (12.96)32 (59.26)15 (27.78)93
         Achromobacter species9 (16.67)30 (55.56)15 (27.78)90
         MRSA12 (22.22)33 (61.11)9 (16.67)76.5
         MSSA12 (22.22)36 (66.67)6 (11.11)72
         Mycobacterium avium complex12 (22.22)37 (68.52)5 (9.26)70.5
         Aspergillus fumigatus sp.22 (40.74)31 (57.41)1 (1.85)49.5
         Streptococcus pneumoniae48 (88.89)6 (11.11)0 (0)9

        Data are presented as n (%), unless otherwise stated. Total score calculated on a basis of 0, 1.5 and 3 points allocated for each count of “Not supportive”, “Somewhat supportive” and “Strongly supportive”, respectively. CF: cystic fibrosis; CBAVD: congenital bilateral absence of the vas deferens; ABPA: allergic bronchopulmonary aspergillosis; MRSA: methicillin-resistant Staphylococcus aureus; MSSA: methicillin-sensitive S. aureus. #: responses with ≥50% selection as “Strongly supportive” of need for follow-up at a specialist CF centre.

        • TABLE 4

          Ratings of factors influencing responder decision on individual need for follow-up at a cystic fibrosis (CF) specialist centre (n=54 responses)

          Would not contributeContributes somewhatMajor determinantTotal (weighted)
          Burkholderia cenocepacia complex sputum positive2 (3.7)13 (24.07)39 (72.22)#136.5
          Confirmed exocrine pancreatic insufficiency1 (1.85)15 (27.78)38 (70.37)#136.5
          Frequent pulmonary exacerbations3 (5.56)14 (25.93)37 (68.52)#132
          Pseudomonas aeruginosa sputum positive4 (7.41)19 (35.19)31 (57.41)#121.5
          Worse lung function at presentation5 (9.26)19 (35.19)30 (55.56)#118.5
          Recurrent pancreatitis3 (5.56)28 (51.85)23 (42.59)111
          Nutritional status/BMI5 (9.26)29 (53.7)20 (37.04)103.5
          NTM sputum positive7 (12.96)26 (48.15)21 (38.89)102
          Lung function relative to age at presentation10 (18.52)25 (46.3)19 (35.19)94.5
          MRSA sputum positive11 (20.37)26 (48.15)17 (31.48)90
          Other bacterial sputum positivity¶10 (18.52)29 (53.7)15 (27.78)88.5
          Younger age at presentation12 (22.22)29 (53.7)13 (24.07)82.5
          Diagnosis of ABPA11 (20.37)33 (61.11)10 (18.52)79.5
          Confirmed diagnosis of diabetes17 (31.48)28 (51.85)9 (16.67)69
          Already attending a pulmonary specialist23 (42.59)27 (50)4 (7.41)52.5

          Data are presented as n (%), unless otherwise stated. Total score calculated on a basis of 0, 1.5 and 3 points allocated for each count of “Would not contribute”, “Contributes somewhat” and “Major determinant”, respectively. BMI: body mass index; NTM: nontuberculous mycobacteria; MRSA: methicillin-resistant Staphylococcus aureus; ABPA: allergic bronchopulmonary aspergillosis. #: response with ≥50% selection as “Major determinant” of need for follow-up at a specialist CF centre; ¶: Stenotrophomonas, Achromobacter and methicillin-sensitive S. aureus.

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          Diagnostic agreement among experts assessing adults presenting with possible cystic fibrosis: need for improvement and implications for patient care
          Alessandro N. Franciosi, April Tanzler, Jodi Goodwin, Pearce G. Wilcox, George M. Solomon, Albert Faro, Noel G. McElvaney, Damian G. Downey, Bradley S. Quon
          ERJ Open Research Oct 2022, 8 (4) 00227-2022; DOI: 10.1183/23120541.00227-2022

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          Diagnostic agreement among experts assessing adults presenting with possible cystic fibrosis: need for improvement and implications for patient care
          Alessandro N. Franciosi, April Tanzler, Jodi Goodwin, Pearce G. Wilcox, George M. Solomon, Albert Faro, Noel G. McElvaney, Damian G. Downey, Bradley S. Quon
          ERJ Open Research Oct 2022, 8 (4) 00227-2022; DOI: 10.1183/23120541.00227-2022
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