Genetic Testing for Idiopathic Pulmonary Fibrosis

In February, National Jewish, with support from the Coalition for Pulmonary Fibrosis, created the first genetic counseling program for families affected by idiopathic pulmonary fibrosis, an incurable and fatal lung disease. Genetic counselor Janet Talbert has already fielded dozens of calls from pulmonary fibrosis patients and their family members seeking to better understand  the bewildering scientific, legal, and ethical issues surrounding pulmonary fibrosis and genetic tests that recently became available.

Q: Why did National Jewish start this genetic counseling program?
A: In 2007 scientists reported the discovery of two genes associated with the familial form of idiopathic pulmonary fibrosis (IPF). Soon after, tests became publicly available that could tell if a person carries either of those two genes. We were concerned that people would get these tests without having access to important information that can help them make informed decisions about getting the tests and planning their lives after learning the results of those tests.

Q: What do callers want to know?
A: Many are very concerned about passing the gene on to their children. Have they already done it? Should they have children and risk it? They want to know if they are going to get the disease. They want to know about possible discrimination by insurance companies.

Q: What do you tell them?
A: I try to educate people about exactly what positive and negative test results mean. Genetic testing rarely offers a clear, black-and-white answer. For instance if you have the gene, you have only a 50-50 chance of passing it on to each of your children. If a child inherits the gene from a parent, there is no guarantee that the child will develop the disease. An additional environmental factor may be necessary to convert a genetic predisposition into disease. If you do not have the gene, but have two or more family members with IPF, you still face an increased risk of developing the disease.

Q: Is discrimination by insurance companies an issue?
A: Many people are concerned about that. In fact, they do not have the tests because they fear they will be denied insurance coverage if they have a positive result. At this point, I believe there is more fear of the practice than actual discrimination by insurance companies. There is now a bill pending in the U.S. Congress that would prevent insurance companies from using results of genetic tests to deny coverage.

Q: How have callers responded?
A: People seem very grateful after our conversations, which last about 30 minutes on average. Solid information they get from us can be very helpful when facing such a scary prospect as IPF. On the other hand, the ambiguity of the test results – that they do not offer a definitive answer about getting the disease — offers a window of hope. I try to give them hope.

If you have IPF or a family member with IPF and want to learn more about genetic tests, legal, social and insurance issues associated with the tests and the disease, contact Janet Talbert at 1-800-423-8891 ext. 1022.