1. Combining clinical, radiological and genetic approaches to pneumothorax management.
- Author
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Grimes HL, Holden S, Babar J, Karia S, Wetscherek MT, Barker A, Herre J, Knolle MD, Maher ER, and Marciniak SJ
- Subjects
- Humans, Precision Medicine, Pneumothorax diagnostic imaging, Pneumothorax genetics, Pneumothorax therapy
- Abstract
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., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
- Published
- 2022
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