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.