National Jewish Genetic Counselor Provides Answers, Support for Families with Pulmonary Fibrosis

Janet Talbert, Genetic Counselor & Research Coordinator at the Interstitial and Autoimmune Lung Disease Program National Jewish Medical and Research Center, sat down with the CPF's Teresa Geiger to discuss the program in more detail.

My goals are to be available for patients and family members to provide answers on the most recent genetic information for FPF as well as to help them make informed decisions about research and genetic testing. I want to guide patients and family members through the risks, benefits and options of genetic research and genetic testing so they may make the best decision for themselves. I'll also be providing basic medical information on the disease and how hereditary factors may contribute. We also plan to provide referrals to medical care if needed. We counsel patients on what the tests and results of tests mean to them.

Is there a cost to the patient/ family for the counseling service?

There is no cost for this service. We're grateful that the service is being supported through a gift from the CPF.

Why is counseling important before and after genetic testing? Genetic testing is very unique from other kinds of testing, and can be quite complex. While genetic testing may appear to be exact, there are also times when it is not exact. For example, a negative result does not always imply that the individual is risk-free from disease. There are inconclusive results many times, especially with chronic diseases such as IPF. Prior to genetic testing, it is important to determine who, if anyone needs to have genetic testing. Many times it is important to test someone with the disease first to see if they carry the known disease-causing gene before testing other asymptomatic family members. For this reason, it is important to discuss these and other issues before performing genetic testing.

Depending on the results of testing, counseling after genetic testing provides a framework for personalized medicine to that individual, what their results mean for their health as well as how it impacts other family members (i.e. do others now need to be tested?). The individual can then take action to make decisions regarding their healthcare. Also, the results can be comforting if they relieve emotional distress or anxiety about the condition being tested for.

What is being done to protect patients and families from those who would use their genetic information against them?

Not only does genetic technology outpace the education out there, but it also outpaces our legislation. Currently, genetic information gained from testing is protected somewhat through the federal law of HIPAA (Health Information Portability and Accountability Act), and other laws exist state to state. This leaves spotty protection at the moment. For the last ten years, bills have gone before Congress to create a federal law to protect genetic information, collectively known as the Genetic Information Nondiscrimination Act, or GINA. To date, the Act has not passed though."

What is the importance of collecting genetic information with regards to finding treatments and a cure for IPF or FPF?

This is extremely important. In diseases such as IPF/FPF, it is most likely an interaction of different genes and the environment, and it may differ family to family, individual to individual. So it is important to continue research for discovery of more genes that may be implicated in the disease process.

What are you most excited about regarding the FPF Genetics Counseling program?

I am excited that this is going to be the first service of its kind that offers genetic counseling to families and patients with IPF/FPF. It is an honor to be part of this endeavor and my hope is that it benefits everyone who calls in with questions. I am also excited to work with the patients and families that are members of the CPF.

What would you say to hesitant patients/families who may want to call?

I would say that there are no questions too big or too small to ask. If I do not have the answer right away, I will find out and get back to them at a later point. I listen well and I am responsive to the needs of the callers. My hope is that callers will feel better once they have an improved understanding of the implications of a genetic form of FPF and patients and their families will be able to better manage their fears and expectations.