Genetic testing can help determine whether a patient has a rare lung disease.

When the Pulmonary Genetics Center at Brigham and Women’s Hospital (BWH) opened in 2013, some of its first patients were a family suspected of having Birt-Hogg-Dubé syndrome, a truly rare pulmonary disease with only an estimated couple hundred cases in the United States.

Birt-Hogg-Dubé syndrome is one of many pulmonary diseases for which a genetic test exists. Many labs in the United States and around the world offered genetic tests for some pulmonary diseases, but until now there was no centralized place to send samples for comprehensive testing.

Recognizing this problem, the Division of Pulmonary and Critical Care Medicine at BWH worked with the Laboratory for Molecular Medicine to create a diagnostic test that sequences 57 genes implicated in pulmonary diseases. This new diagnostic test is at the core of the Pulmonary Genetics Center, where experts in pulmonary genetic conditions work together with a certified genetic counselor to evaluate, diagnose, and counsel patients about their risk, management options, and potential reproductive issues.

“There’s no other center like this in the world — or at least not that we know of,” says Dr. Benjamin Raby, Director of the Pulmonary Genetics Center.

The Pulmonary Genetics Center also sees patients with a strong family history of lung disease, young patients with advanced lung disease, and relatives of patients with known genetic lung diseases who are concerned about their personal risk.  Diseases range from cystic fibrosis and emphysema to interstitial lung disease, bronchiectasis, and pulmonary hypertension. Both partners use standardized data gathering and questionnaires, which are then entered into a database. By linking genetic information to clinical information, the Pulmonary Genetics Center hopes to identify new mutations and link them with their clinical presentation. One of the Center’s goals is to develop a strong research initiative to go along with its clinical initiative.

Dr. Raby says he’s frequently asked how this information helps patients, when most mutations don’t have therapies to treat them. Identifying the root cause of a patient’s condition can have an enormous psychological benefit, he explains, and having an accurate diagnosis can enable enrollment in new trials and treatment strategies. Once a mutation is identified, other family members at risk also can be tested to identify those who carry disease-causing variations and reassure those who do not have the variants.

Once tested, patients are offered information about their risk of complications, as many lung diseases are often associated with higher rates of certain cancers and other diseases. For example, people with Birt-Hogg-Dubé syndrome have a 30 to 40 percent increased risk of developing kidney cancer. While Dr. Raby wouldn’t have a treatment to offer the family suspected of having Birt-Hogg-Dubé syndrome, he could offer yearly screenings to identify tumors beginning to develop in their kidneys.

“Every patient we’ve seen so far has been grateful that this Center exists,” says Dr. Raby. “Our hope is that each patient who comes to us, whether we’re able to offer a treatment or simply education, walks away feeling empowered about their medical condition.”

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– Nickolette G.

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