RT Journal Article
SR Electronic
T1 Combining clinical, radiological and genetic approaches to pneumothorax management
JF Thorax
JO Thorax
FD BMJ Publishing Group Ltd and British Thoracic Society
SP 196
OP 198
DO 10.1136/thoraxjnl-2021-217210
VO 77
IS 2
A1 Grimes, Hannah L
A1 Holden, Simon
A1 Babar, Judith
A1 Karia, Sumit
A1 Wetscherek, Maria TA
A1 Barker, Allanah
A1 Herre, Jurgen
A1 Knolle, Martin D
A1 Maher, Eamonn R
A1 Genomics England Research Consortium
A1 Marciniak, Stefan John
YR 2022
UL http://thorax.bmj.com/content/77/2/196.abstract
AB Familial spontaneous pneumothorax (FSP) accounts for 10% of primary spontaneous pneumothoraces. Appropriate investigation of FSP enables early diagnosis of serious monogenic diseases and the practice of precision medicine. Here, we show that a pneumothorax genetics multidisciplinary team (MDT) can efficiently diagnose a range of syndromic causes of FSP. A sizeable group (73.6%) of clinically unclassifiable FSPs remains. Using whole genome sequencing we demonstrate that most of these cases are not known monogenic disorders. Therefore, clinico-radiological assessment by an MDT has high sensitivity for currently known clinically important monogenic causes of FSP, which has relevance for the design of efficient pneumothorax services.