Pulmonology
Placing genetics at the core of medical decisions
Pulmonology genetic testing is utilised to establish an inherited aetiology in patients presenting with acute, chronic, or progressive respiratory disease across paediatric and adult populations. Establishing a molecular diagnosis informs targeted therapeutics, guides prognostic assessments, and directs cascade screening in at-risk relatives. Monogenic pulmonary disorders are broadly categorised into four primary clinical groups:
- & CFTR-related disorders: Multisystem disease caused by biallelic variants in CFTR. Consensus guidelines from the US Cystic Fibrosis Foundation recommend newborn screening algorithms to incorporate comprehensive CFTR variant panels (such as those cataloged in CFTR2) rather than restricting analysis to the common F508del variant alone.
- , which confers an increased risk of pulmonary emphysema and of liver involvement, remains substantially underdiagnosed.
- & pulmonary fibrosis: Monogenic etiology varies significantly by age of onset:
- Paediatric interstitial lung disease: dominated by pathogenic variants in surfactant metabolic genes and disorders such as Hermansky-Pudlak syndrome or lysinuric protein intolerance.
- Adult-onset familial pulmonary fibrosis (FPF): predominantly driven by germline variants in telomere maintenance genes, often co-occurring with systemic hematologic, hepatic, or dermatologic manifestations.
- Rare alveolar & vascular disorders: includes hereditary caused by insufficient clearance of surfactant (distinguished from autoantibody-mediated autoimmune PAP), pulmonary alveolar microlithiasis, and heritable .
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