Pulmonary Genetics

The BWH Pulmonary Genetics Center is a first-of-its-kind clinical unit dedicated to providing clinical, educational and research support in the management of genetic diseases affecting the respiratory system. All patients seen at the Center are evaluated by our pulmonary geneticist and Director of the Center, Dr. Benjamin Raby, MD, MPH, and also visit with our certified genetics counselor, Diana Toledo, MS, CGC. All patients are counseled prior to genetic testing, to ensure they understand the potential implications of genetic test results for both the patient and their relatives.

The PGC is the first clinical center to offer centralized clinical expertise for the evaluation and management of patients with all forms of pulmonary disease, and is supported by pediatric pulmonologists, adult medical geneticists, and a diverse team of pulmonary subspecialists based within the BWH Division of Pulmonary and Critical Care Medicine with expertise in rare lung diseases. This enables timely referral of patients with confirmed diseases to the appropriate care givers.

Through a partnership with the Laboratory for Molecular Medicine (LMM) of the Mass General Brigham Center for Personalized Genomic Medicine, we have developed the PulmoGene Sequencing Panel (PSP). The PSP is a targeted next-generation sequencing panel capable of evaluating 63 genes that cause pulmonary disease. This panel is the first in class for pulmonary disease. The PSP can be ordered either in full or limited to subpanels enriched for genes related to cystic lung disease (including lymphangioleiomyomatosis), bronchiectasis, pulmonary fibrosis, pulmonary hypertension, or hypoventilation syndromes.

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