Abstract
Genetic predisposition to pulmonary fibrosis has been confirmed by the discovery of several gene mutations that cause pulmonary fibrosis. Although genetic sequencing of familial pulmonary fibrosis (FPF) cases is embedded in routine clinical practice in several countries, many centers have yet to incorporate genetic sequencing within ILD services, and proper international consensus has not yet been established.
An international and multidisciplinary expert taskforce (pulmonologists, geneticists, pediatrician, pathologist, genetic counselor, patient representative, and librarian) reviewed the literature between 1945 and 2022, and reached consensus for all of the following questions: 1) Which patients may benefit from genetic sequencing and clinical counseling? 2) What is known of the natural history of familial disease? 3) Which genes are usually tested? 4) What is the evidence for telomere length measurement? 5) What is the role of common genetic variants (polymorphisms) in the diagnostic workup? 6) What are the optimal treatment options for FPF? 7) Which family members are eligible for genetic sequencing? 8) Which clinical screening and follow-up parameters may be considered in family members?
Through a robust review of the literature, the panel offers a statement on genetic sequencing, clinical management and screening of patients with FPF and their relatives. This proposal may serve as a basis for a prospective evaluation and future international recommendations.
Footnotes
This manuscript has recently been accepted for publication in the European Respiratory Journal. It is published here in its accepted form prior to copyediting and typesetting by our production team. After these production processes are complete and the authors have approved the resulting proofs, the article will move to the latest issue of the ERJ online. Please open or download the PDF to view this article.
Conflict of interest: Raphael Borie reports grants from Boerhinger Ingelheim; consulting fees from Sanofi; lecture honoraria from Boerhinger Ingelheim, Roche, Sanofi; travel support from Boerhinger Ingelheim; outside the submitted work.
Conflict of interest: Katarina Antoniou reports consulting fees from BI, Roche, GSK; lecture honoraria from BI, Roche, Chiesi, Menarini, GSK, AstraZeneca; outside the submitted work.
Conflict of interest: Francesco Bonella reports lecture honoraria from Boehringer Ingelheim, Fujirebio, Galapagos NV, Roche; travel support from Boehringer Ingelheim, Roche; participation on advisory boards with Boehringer Ingelheim, Bristol Myers Squibb, Fujirebio, Galapagos NV, GlaxoSmithKline, Roche, Takeda; outside the submitted work.
Conflict of interest: Bruno Crestani reports grants from BMS, Boehringer Ingelheim, Roche; consulting fees from apellis; lecture honoraria from Boehringer Ingelheim, BMS, Roche, Sanofi, Novartis, Astra Zeneca, Chiesi; receipt of equipment Translate Bio; outside the submitted work.
Conflict of interest: Antoine Froidure reports grants and consulting fees from Boehringer Ingelheim; lecture honoraria from Boehringer Ingelheim, GlaxoSmithKline; travel support from Sanofi; outside the submitted work.
Conflict of interest: Liam Galvin reports travel support from European Lung Foundation, European Respiratory Society, European Pulmonary Fibrosis Federation; leadership roles with European Pulmonary Fibrosis Federation, Irish Lung Fibrosis Association, European Lung Foundation, European Reference Network On Rare Respiratory Diseases; outside the submitted work.
Conflict of interest: Matthias Griese reports grants and travel support from Böhringer-Ingelheim; outside the submitted work.
Conflict of interest: Maria Molina Molina reports grants from Roche, Boehringer Ing; consulting fees from Esteve-Teijin, Ferrer, Roche, Boehringer Ing.; lecture honoraria from Chiesi, Roche, Boehringer Ing.; outside the submitted work.
Conflict of interest: Venerino Poletti reports lecture honoraria from AMBU, BI, ERBE, Roche; outside the submitted work.
Conflict of interest: Elisabetta Renzoni reports grants from Boehringer Ingelheim; lecture honoraria from Boehringer Ingelheim, Roche, Novartis; outside the submitted work.
Conflict of interest: Coline van Moorsel reports grants from ERS supporting the present manuscript; grants and lecture honoraria from Boehringer Ingelheim; leadership role as Co-chair ERS taskforce genetics in Pulmonary fibrosis; outside the submitted work.
Conflict of interest: All other authors have nothing to disclose.
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