Evidence map›Paper›PMID 42452413›Full record

ReviewJournal of clinical medicine2026

The Genetic Landscape of Fibrotic Interstitial Lung Diseases: Clinical Implications and Diagnostic Challenges in Familial Pulmonary Fibrosis.

Claudio Tirelli, Ornella Rondinone, Fausta Alfano, Jacopo Cefalo, Giulia Nalesso, Matteo Ciracì, Carmine Salerni, Monica Rosa Miozzo, Stefano Centanni, Michele Mondoni

Abstract readReview
In one paragraph

Review in Journal of clinical medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Claudio TirelliRespiratory Unit, ASST Santi Paolo e Carlo, Department of Health Sciences, University of Milan, 20142 Milan, Italy.ORCID 0000-0002-4502-9902
Ornella RondinoneMedical Genetics Unit, ASST Santi Paolo e Carlo, Department of Health Sciences, University of Milan, 20142 Milan, Italy.
Fausta AlfanoRespiratory Unit, ASST Santi Paolo e Carlo, Department of Health Sciences, University of Milan, 20142 Milan, Italy.ORCID 0000-0002-5210-2573
Jacopo CefaloRespiratory Unit, ASST Santi Paolo e Carlo, Department of Health Sciences, University of Milan, 20142 Milan, Italy.ORCID 0000-0003-4002-7374
Giulia NalessoRespiratory Unit, ASST Santi Paolo e Carlo, Department of Health Sciences, University of Milan, 20142 Milan, Italy.ORCID 0000-0002-5104-7437
Matteo CiracìRespiratory Unit, ASST Santi Paolo e Carlo, Department of Health Sciences, University of Milan, 20142 Milan, Italy.
Carmine SalerniRespiratory Unit, ASST Santi Paolo e Carlo, Department of Health Sciences, University of Milan, 20142 Milan, Italy.ORCID 0009-0003-8484-3661
Monica Rosa MiozzoMedical Genetics Unit, ASST Santi Paolo e Carlo, Department of Health Sciences, University of Milan, 20142 Milan, Italy.
Stefano CentanniRespiratory Unit, ASST Santi Paolo e Carlo, Department of Health Sciences, University of Milan, 20142 Milan, Italy.
Michele MondoniRespiratory Unit, ASST Santi Paolo e Carlo, Department of Health Sciences, University of Milan, 20142 Milan, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The pathogenesis of interstitial lung diseases (ILDs) is significantly influenced by genetic factors, yet lack of consensus on the optimal timing for genetic testing and precise patient selection could hinder clinical practice. Position papers currently suggest testing patients presenting with a suspect of Familial Pulmonary Fibrosis (FPF) and with extra-pulmonary syndromic features (i.e., premature graying, cytopenias, liver cirrhosis) for genetic screening. Diagnostics rely on next-generation sequencing (NGS) to identify pathogenic/likely pathogenic variants in telomere-related and surfactant-related genes. A specialized genetic consultation is essential in the correct interpretation of test results, especially when variants of uncertain significance (VUS) are detected. Adoption of other tests, such as polygenic risk scores, could further support precision medicine in ILD care. Future research might address the knowledge gap regarding early test prescription and the role of therapy, including lung transplant stratification and antifibrotic therapy, in FPF.

Indexed as

familial pulmonary fibrosisgenetic counselingidiopathic pulmonary fibrosisILDNGSprecision medicineVUS

Identifiers

PMID42452413
PMCPMC13361634

What OpenQuestion holds

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LicenceCC BY
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.