Questions About Genetic Testing for Cystic Fibrosis

Questions About Genetic Testing for Cystic Fibrosis

Genetic testing for cystic fibrosis (CF) is becoming increasingly popular and widely available. If you are thinking about having yourself or your child tested, you'll want to ask yourself some questions first.

Why do you want to be tested?

Parents giving baby with cystic fibrosis a breathing treatment
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This is the first question you should ask yourself before receiving genetic testing for CF. Knowing why you want the information will help you put everything in perspective and make it easier to answer the rest of the questions that you'll need to tackle before getting tested. Some reasons that people might get genetic testing for CF include the following:

  • To find out if they are carriers.
  • To find out if an unborn baby is at risk for CF when both parents are carriers.
  • Newborns who had positive screening tests.
  • People who have symptoms of cystic fibrosis but results from sweat testing was inconclusive.
  • People who have CF and want to know which mutation they have.

What do you plan to do with the information?

Some people prefer not to know about their genetic makeup because the knowledge will not change any of their decisions. For example, a couple might prefer not to know if their unborn baby has CF if they plan to continue the pregnancy regardless of the results. Another couple might want to know about the CF even if they do plan to continue the pregnancy so treatment can begin right away. Whatever your reason for being tested, you should run through some scenarios ahead of time and decide how you will use the information.

What type of test is right for you?

Not all genetic tests for cystic fibrosis are the same. Testing possibilities range from basic tests that look for the most common CFTR mutations to full gene sequencing that can detect almost any mutation. The basic test is the most readily available, cheapest, and fastest option and is often sufficient for routine testing, but advanced testing may be beneficial for some people. Get the facts about basic and advanced testing options so you can make an informed decision about the type of testing that’s right for you.

How will you pay for the testing?

The cost of genetic testing for cystic fibrosis can range from a few hundred to several thousand dollars. If the test is being done as part of your state's newborn screening program, it will be done at no cost to you. Otherwise, you will need to check with your insurance company to see which types of testing are covered, if any.

Do you want your insurance company to know what's in your genes?

If your insurance company pays for genetic testing, they will have access to the results. This presents a new ethical dilemma and raises concerns about the impact that insurance company access to genetic information will have on consumer's access to coverage. Each state has different rules about how health insurance companies can use genetic information. Be sure to find out about your state's laws before you decide whether you want your insurance company to pay for your genetic testing.

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