RT Journal Article SR Electronic T1 Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis JF European Respiratory Journal JO Eur Respir J FD European Respiratory Society SP 2200176 DO 10.1183/13993003.00176-2022 VO 60 IS 5 A1 Shoemark, Amelia A1 Griffin, Helen A1 Wheway, Gabrielle A1 Hogg, Claire A1 Lucas, Jane S. A1 Genomics England Research Consortium A1 Camps, Carme A1 Taylor, Jenny A1 Carroll, Mary A1 Loebinger, Michael R. A1 Chalmers, James D. A1 Morris-Rosendahl, Deborah A1 Mitchison, Hannah M. A1 De Soyza, Anthony A1 The Genomics England Research Consortium: A1 Brown, D. A1 Ambrose, J.C. A1 Arumugam, P. A1 Bevers, R. A1 Bleda, M. A1 Boardman-Pretty, F. A1 Boustred, C.R. A1 Brittain, H. A1 Caulfield, M.J. A1 Chan, G.C. A1 Fowler, T. A1 Giess, A. A1 Hamblin, A. A1 Henderson, S. A1 Hubbard, T.J.P. A1 Jackson, R. A1 Jones, L.J. A1 Kasperaviciute, D. A1 Kayikci, M. A1 Kousathanas, A. A1 Lahnstein, L. A1 Leigh, S.E.A. A1 Leong, I.U.S. A1 Lopez, F.J. A1 Maleady-Crowe, F A1 McEntagart, M. A1 Minneci, F. A1 Moutsianas, L. A1 Mueller, M. A1 Murugaesu, N. A1 Need, A.C. A1 O'Donovan, P. A1 Odhams, C.A. A1 Patch, C. A1 Perez-Gil, D. A1 Pereira, M.B. A1 Pullinger, J. A1 Rahim, T. A1 Rendon, A. A1 Rogers, T. A1 Savage, K. A1 Sawant, K. A1 Scott, R.H. A1 Siddiq, A. A1 Sieghart, A. A1 Smith, S.C. A1 Sosinsky, A. A1 Stuckey, A. A1 Tanguy, M. A1 Taylor Tavares, A.L. A1 Thomas, E.R.A. A1 Thompson, S.R. A1 Tucci, A. A1 Welland, M.J. A1 Williams, E. A1 Witkowska, K. A1 Wood, S.M. YR 2022 UL https://publications.ersnet.org//content/60/5/2200176.abstract AB Background Bronchiectasis can result from infectious, genetic, immunological and allergic causes. 60–80% of cases are idiopathic, but a well-recognised genetic cause is the motile ciliopathy, primary ciliary dyskinesia (PCD). Diagnosis of PCD has management implications including addressing comorbidities, implementing genetic and fertility counselling and future access to PCD-specific treatments. Diagnostic testing can be complex; however, PCD genetic testing is moving rapidly from research into clinical diagnostics and would confirm the cause of bronchiectasis.Methods This observational study used genetic data from severe bronchiectasis patients recruited to the UK 100,000 Genomes Project and patients referred for gene panel testing within a tertiary respiratory hospital. Patients referred for genetic testing due to clinical suspicion of PCD were excluded from both analyses. Data were accessed from the British Thoracic Society audit, to investigate whether motile ciliopathies are underdiagnosed in people with bronchiectasis in the UK.Results Pathogenic or likely pathogenic variants were identified in motile ciliopathy genes in 17 (12%) out of 142 individuals by whole-genome sequencing. Similarly, in a single centre with access to pathological diagnostic facilities, 5–10% of patients received a PCD diagnosis by gene panel, often linked to normal/inconclusive nasal nitric oxide and cilia functional test results. In 4898 audited patients with bronchiectasis, <2% were tested for PCD and <1% received genetic testing.Conclusions PCD is underdiagnosed as a cause of bronchiectasis. Increased uptake of genetic testing may help to identify bronchiectasis due to motile ciliopathies and ensure appropriate management.Primary ciliary dyskinesia is underdiagnosed as a cause of idiopathic bronchiectasis. Whole-genome sequencing reveals variants in motile ciliopathy genes. https://bit.ly/3yKoBko