Ask the expert: Common questions about cystic fibrosis

We’ve teamed up with one of our in-house experts to talk about the importance of screening for cystic fibrosis. In the short video below, you’ll hear from Dana Neitzel, one of Invitae’s licensed genetic counselors (who was formerly at Good Start Genetics). Dana has a wealth of knowledge when it comes to cystic fibrosis and genetics, so have a listen below and then read up on some of Dana’s most frequently asked and answered CF questions.

What is cystic fibrosis?

Cystic fibrosis, or CF, causes the buildup of thick mucus in the lungs, pancreas and other organs. CF symptoms range in severity and can begin in infancy and can even go unnoticed until adulthood. Typically though, CF symptoms begin in childhood and lead to frequent hospitalizations for chronic lung infections; poor growth and male infertility are also common. The average life expectancy due to lung disease is around 40; however, a child born today with CF is expected to live longer.

How common is CF?

Around 1 in 3,500 babies in the US are born wit CF each year. This means more than 30,000 people are living with CF in the US and about 1,000 new cases are diagnosed each year.

What causes CF ?

CF is an inherited condition. You are born with CF; you cannot catch CF like you can a virus or infection. If both parents are carriers, they have a 1 in 4 (or 25%) chance of having a child with CF.

Who is at risk of having a child with CF?

Anyone can be a carrier of CF regardless of personal or family history. In the US, the chance to be a carrier is 1 in 31. This number can also vary based on ethnic background.

How can you be tested to see if you are a carrier of CF?

A simple DNA test can determine if you are a carrier of CF. Carriers are typically healthy and do not have the disease itself, however, carriers are at risk of having a child with CF.

What are some common symptoms of CF?

CF impacts each individual differently. Common symptoms include recurrent lung infections, persistent cough, wheezing and shortness of breath.  Additionally, poor growth and male infertility may also occur. CF does not impact a person’s intelligence

What treatments are available for CF?

The severity of CF can vary from person to person. There is currently no cure; however early treatment can improve quality of life and increase life expectancy. Treatments include respiratory and nutritional therapies. There are also FDA approved drugs available.