Abstract
Background Increasing awareness of milder presentations of cystic fibrosis (CF) and greater interest in non-CF bronchiectasis is likely to lead to more CF screening by respiratory clinicians. As a result, adults who may not strictly fulfil CF diagnostic criteria, yet display evidence of abnormal cystic fibrosis transmembrane conductance regulator (CFTR) function are being identified. The degree of agreement on diagnosis and care needs in these cases between CF-clinicians remains unknown, and has implications for patient care, including access to CFTR-modulator therapies.
Methods We surveyed adult-CF physicians in Canada, the USA, the UK, and Ireland, and presented them with anonymised vignettes of adult patients referred for assessment of possible CF. Diagnostic inter-rater agreement over diagnosis, ease of classifying cases and appropriate follow-up was assessed using Krippendorf's alpha statistic.
Results Agreement over diagnosis (alpha=0.282), ease of classification (alpha=-0.01) and recommended follow-up (alpha=0.054) was weak. Clinician experience (>10 years and 5–10 years versus <5 years) and location (UK/Ireland versus Canada) were associated with higher odds of recommending further testing compared to selecting a formal diagnosis (OR 2.87, p=0.022, OR 3.74; p=0.013; and OR 3.16, p=0.007, respectively). A modified standard of care was recommended in 28.7% of cases labelled as CF. 70% of respondents agreed with the statement that “distinction between CF and CFTR-RD has become significantly more pertinent with the advent of highly effective CFTR-modulators”.
Interpretation Our results demonstrate low diagnostic concordance among CF specialists assessing cases of possible adult CF and highlights an area in need of improvement.
Footnotes
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Conflict of interest: Alessandro N Franciosi has received Michael Smith Health Research BC Research Trainee Award, # RT-2020-0493, outside the submitted work.
Conflict of interest: Bradley S Quon has received grants or contracts from CF Canada, CF Foundation, Gilead Sciences and BC Lung Association, outside the submitted work. Personal speaker fees received from Vertex Pharmaceuticals, outside the submitted work. Participation on advisory board for Proteostasis Therapeutics and AbbVie, outside the submitted work.
Conflict of interest: Damian Downey has received consulting fees from Vertex Pharmaceuticals and Proteostasis Therapeutics, outside the submitted work. Payment or honoraria for lectures, presentations, speakers bureaus, manuscript writing or educational events; Vertex Pharmaceuticals, Proteostasis Therapeutics and Chiesi, outside the submitted work. Support for attending meetings and/or travel; Vertex Pharmaceuticals and Proteostasis Therapeutics, outside the submitted work. Leadership or fiduciary role in other board, society, committee or advocacy group; European CF Society – Clinical Trials Network, outside the submitted work.
Conflict of interest: Noel G McElvaney has received grants or contracts from; Grifols research grant for alpha-1 anti trypsin deficiency, outside the submitted work. Consulting fees; vertex, Intellia and Inhibrx, outside the submitted work. Patents planned, issued or pending; Patent issued for development of oxidation resistant AAT in CHO cells, outside the submitted work. Leadership or fiduciary role in other board, society, committee or advocacy group; President alpha 1 foundation Ireland, outside the submitted work. Stock or stock options; Nuimmune stock options, outside the submitted work. Receipt of equipment, materials, drugs, medical writing, gifts or other services; Grifols provision of plasma purified AAT for research, outside the submitted work.
Conflict of interest: George M. Solomon has received grants or contracts from; NIH, CF Foundation and Vertex Pharmaceuticals, outside the submitted work. Consulting fees; Electromed, Inc and Spark healthcare, outside the submitted work. Payment or honoraria for lectures, presentations, speakers bureaus, manuscript writing or educational events; Electromed, Inc and Insmed, outside the submitted work. Participation on a Data Safety Monitoring Board or Advisory Board; Electromed, Inc and Insmed, Inc, outside the submitted work.
Conflict of interest: Pearce Wilcox has received payment or honoraria for lectures, presentations, speakers bureaus, manuscript writing or educational events, from; Vertex, outside the submitted work. Participation on a Data Safety Monitoring Board or Advisory Board; Member Cf Foundation DSMB, outside the submitted work.
Conflict of interest: The remaining authors have nothing to disclose.
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- Received May 9, 2022.
- Accepted August 3, 2022.
- Copyright ©The authors 2022
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