Panel discussion on genetics in pulmonary fibrosis

Panel discussion on genetics in pulmonary fibrosis

This webinar took place on 5 April, 2023.


Chair: Prof. Katerina Antoniou (Heraklion, Greece)
Speakers: Dr. Raphaël Borie (Paris, France), Coline van Moorsel (Nieuwegein, Netherlands); EU-PFF patient representative: Clare Beckett; Discussant: Dr. Francesco Bonella (Düsseldorf, Germany)


Pulmonary fibrosis is a devastating form of ILD and around 20% of patients have a genetic form of pulmonary fibrosis which associates with worse survival, comorbidities, and increased risk for disease in family members. Recognition of these patients and genetic analysis informs on diagnosis, prognosis, risk for comorbidities, treatment response and disease risk assessment in relatives. A patient, relatives and pulmonologist's survey conducted by the ERS taskforce members showed a high need for education among patients and pulmonologists. The ERS taskforce TF 2019-10 Genetics in pulmonary fibrosis provided a statement to inform clinicians on current knowledge and expert practice. 

Educational aims

The webinar explained what genetic pulmonary fibrosis is, and informed the audience on:

  • The patient's trajectory: experiences and needs
  • Epidemiology, pathogenesis (genes involved) and phenotype of genetic pulmonary fibrosis
  • Prognosis, treatment options and expected comorbidities in patients with genetic pulmonary fibrosis
  • Relatives at increased risk for disease and screening for early disease


  • How to recognize a patient suspected of genetic pulmonary fibrosis?
  • Which patients may benefit from genetic testing?
  • Management of relatives at risk: genetic testing and/or physical screening?

Learning outcomes

Following this webinar, participants will now be up to date on cause, frequency, phenotype and management of genetic pulmonary fibrosis which will enable them to recognise putative patients with the disease and optimize their management.