1.800.423.8891 ext. 1097 or email Janet Talbert at email@example.com.
Pulmonary fibrosis is a disease characterized by progressive scarring of the lungs, which robs patients of the ability to breathe. Most cases are of unknown cause, and are called Idiopathic Pulmonary Fibrosis or IPF. An estimated 10-20% of patients with IPF have a form of the disease that runs in families, called familial pulmonary fibrosis (FPF). Research has identified several genes that are associated with familial pulmonary fibrosis, however these genes explain about 20-25% of those with the Familial form of IPF and even less for those with no family history (sporadic). Genetic testing, while available for most of the genes discovered to date, is not strongly recommended as there is currently poor clinical utility (what to do with the information) for patients with FPF. However, due to the availability of genetic testing and concerns of the disease running in families, patients and family members should discuss the risks and benefits of genetic testing, risks to others in the family and important issues (such as insurance discrimination) with a genetic counselor.
National Jewish Health collaborates with the Pulmonary Fibrosis Foundation to provide genetic counseling for both sporadic and familial pulmonary fibrosis patients, their families, their healthcare providers, and to the pulmonary fibrosis community at large. Learn more about the genetic counseling program.