skip to Cookie NoticeSkip to contents

Your health and safety remain our top priority: Learn about our Safe Care Commitment | Use our Prescreen app before arrival for faster entry | Read the COVID-19 Vaccine FAQs

Header Skipped.

Pulmonary Fibrosis Genetic Study

Evaluating Genetic Markers to Discover Undiagnosed Pulmonary Fibrosis

Pulmonologists and geneticists in the Lung Center at Brigham and Women’s Hospital are developing a novel study incorporating genetic testing to identify patients at risk for pulmonary fibrosis with the goal of detecting and treating the disease at earlier stages.

Gary M. Hunninghake, MD, Director of the Sarcoidosis and Granulomatous Lung Disease Service, Ivan O. Rosas, MD, Director of the Interstitial Lung Disease Program, and Benjamin A. Raby, MD, MPH, Director of the Pulmonary Genetics Center, are collaborating on a new genetic study, which includes both patients with pulmonary fibrosis and their relatives. Earlier work by this team has shown that patients with IPF and those with early stages of pulmonary fibrosis share a high prevalence of specific genetic determinants (N Engl J Med. 2013 Jun 6; 368(23):2192-200 ).

“Pulmonary fibrosis appears to be one of the most genetically determined lung diseases, and may be much more common than many suspect,” said Dr. Hunninghake. “Our work suggests that undetected pulmonary fibrosis can result in a high rate of mortality, even after taking into account other medical conditions. More worrisome, it is probable that the diagnosis of pulmonary fibrosis is being missed in a substantial portion of patients.”

Examining First Degree Relatives of PF Patients

To address this problem, the team is embarking on a novel research study involving both the clinical assessment and genetic testing of patients with established pulmonary fibrosis, and then testing their first-degree relatives for genetic risk factors. The goal is to determine if genetic testing in these at-risk relatives helps to improve the rate of subclinical idiopathic pulmonary fibrosis (IPF) diagnosis.

Testing of first-degree relatives (siblings and children) in this study will include CT scanning, pulmonary function testing, and genetic testing. Genetic counseling will be provided, and results of the genetic testing will be communicated to those first-degree relatives who are tested. As part of this study, the team is currently enrolling 200 patients with established pulmonary fibrosis and 100 of their first-degree relatives without known fibrosis. Genetic testing in patients with established pulmonary fibrosis is also being conducted to determine if certain genetic variants influence outcomes or capture different disease states.

“In addition to exploring whether genetic testing can help in the earlier diagnosis of pulmonary fibrosis, an important part of this study is to understand whether or not providing otherwise- healthy family members with the results of their genetic tests causes more harm than good,” said Dr. Raby. “Questionnaires developed here will help us to assess the psychosocial impact of the disclosure of genetic test results.” Patient enrollment recently began and is expected to continue for two years. The researchers anticipate being able to provide initial results of the study in the next three to four years. (For more information regarding this clinical trial, please contact Ivan O. Rosas at (617) 525-7821 or

Clinical Care for Patients with Early Idiopathic Pulmonary Fibrosis

Those family members found to have early stages of IPF will be offered clinic visits and care for their disease. Treatment may include several antifibrotic medications recently approved by the FDA for the treatment of IPF.

“We are hopeful that relatives who we find to have early forms of pulmonary fibrosis, who are yet to develop significant symptoms, would be the most likely to benefit from the antifibrotic medications currently used to treat patients with advanced IPF, and in whom the early initiation of therapy may help to reduce the rate of decline of lung function before severe disease develops.”

Preventing Pulmonary Fibrosis

Part of the core goal of the team’s research is to demonstrate that primary and secondary prevention of pulmonary fibrosis is feasible. These strategies may prove to be beneficial among those who are genetically susceptible to developing pulmonary fibrosis.

“This study represents a huge opportunity for us to do early detection and prevention work in patient populations where we know it is likely that pulmonary fibrosis will develop,” said Dr. Rosas.


For over a century, a leader in patient care, medical education and research, with expertise in virtually every specialty of medicine and surgery.

About BWH