Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Shoemark Amelia, Griffin Helen, Wheway Gabrielle, Hogg Claire, Lucas Jane S, Genomics England Research Consortium, Camps Carme, Taylor Jenny, Carroll Mary, Loebinger Michael R, Chalmers James D, Morris-Rosendahl Deborah, Mitchison Hannah M, De Soyza Anthony, Genomics England Research Consortium:, Brown D, Ambrose J C, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred C R, Brittain H, Caulfield M J, Chan G C, Fowler T, Giess A, Hamblin A, Henderson S, Hubbard T J P, Jackson R, Jones L J, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Leigh S E A, Leong I U S, Lopez F J, Maleady-Crowe F, McEntagart M, Minneci F, Moutsianas L, Mueller M, Murugaesu N, Need A C, O'Donovan P, Odhams C A, Patch C, Perez-Gil D, Pereira M B, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott R H, Siddiq A, Sieghart A, Smith S C, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares A L, Thomas E R A, Thompson S R, Tucci A, Welland M J, Williams E, Witkowska K, Wood S M
Аннотация
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.