Genetic pulmonary diseases are respiratory conditions that are passed down in the genes of families. Some diseases are common such as asthma, while many other inherited diseases, like cystic fibrosis and lymphangioleiomyomatosis (LAM) are rare.
The Pulmonary Genetics Center of the Brigham and Women's Hospital (BWH) Lung Center is one of only a few centers in the United States dedicated to diagnosing, counseling and managing patients with rare genetic forms of lung disease. Our Center is capable of identifying more than 60 genes that are implicated in at least 12 different lung syndromes encompassing cystic, fibrotic and bronchiectatic (dilated airways) diseases. Led by board-certified adult pulmonologists who are extensively trained in genetic lung disease, the Center also includes a pediatric pulmonologist from Mass General for Children. They work with a team of medical geneticists and pulmonary sub-specialists who have expertise in every type of lung disease.
As discoveries in the area of pulmonary genetics research continue to grow, we look forward to helping more families, while broadening our understanding of rare lung diseases. We are affiliated with the Center for LAM Research and Clinical Care, the nation's leading genetic research laboratory for lymphangioleiomyomatosis (LAM).
Genetic Testing
Patients who meet one or more of the parameters below are viable candidates for a gene sequencing test:
- Patients who are suspected of having a rare lung disease
- Patients with symptoms of lung disease at an unusually young age
- Family members of patients who have been diagnosed with a rare lung disease
- Patients who have an unusual mixture of symptoms often associated with lung disease, but don't fit one specific pattern of disease
Gene Sequencing Test
We draw a small amount of blood and have its genetic make-up analyzed by the Laboratory for Molecular Medicine at Mass General Brigham's Personalized Medicine. The PulmoGene Panel, a next-generation sequencing test, provides focused results for more than 60 genes that have been implicated in inherited (monogenic) lung disease.
We customize our testing strategy by focusing on the handful of genes most relevant for a patient’s specific symptoms. Importantly, a visit to the Pulmonary Genetics Center does not automatically mean your genes will be tested. We only offer testing after careful consideration of the clinical presentation and a discussion with our patients regarding the potential value added from testing.
Benefits of Genetic Testing
- A firm diagnosis can direct patients to appropriate experimental therapies or clinical trials.
- Many genetic lung diseases have associated complications involving other organs that, if detected early, can be treated effectively.
- Early diagnosis is important for preserving lung function. Once a diagnosis of any type of rare lung disease is confirmed, patients will be closely monitored for the development of complications, including lung infection, pneumothorax (collapsed lung), or end-stage lung disease. Earlier diagnosis, leading to earlier initiation of preventative therapies, can improve long-term lung health.
- Having your relatives tested is important, even if they don’t show any signs of the disease. By discovering the same genetic mutation in a family member, we can offer treatment before their disease becomes more severe.
Genetic Counseling
Although testing leads to benefits, understanding test results and their implications can be difficult. All patients are seen by Nikkola Carmichael, CGC, certified genetics counselor, before and after testing. Prior to testing, the counselor will educate you about different results that you may receive and explain how these results can impact family members, including the chances of passing on a disease. After testing, the counselor will explain the results and discuss what they mean for you – including potential treatments – and your family.
Make an Appointment
Call The Lung Center at 1-844-BWH-LUNG (1-844-294-5864) to make an appointment with the Pulmonary Genetics Center or request an appointment online.
You can also call the Pulmonary Genetics Center directly at (617) 732-6770.
Refer a Patient
Physicians can call 1-844-BWH-LUNG (1-844-294-5864) or make an online referral.
You can also call the Pulmonary Genetics Center directly at (617) 732-6770 or email Benjamin Raby, MD at braby@partners.org.
