How Does Genetics Affect Cystic Fibrosis Treatment?

Cystic fibrosis is a life-threatening inherited condition of the lungs, as well as the digestive system. Cystic fibrosis has an effect on the cells that are responsible for producing mucus, digestive juices and sweat. This disease causes these fluids to become sticky and thick, ultimately causing the tubes, ducts, and passageways to become clogged. The symptoms of cystic fibrosis vary in each person, but can commonly include repeated lung infections, cough, fatty stools, and an inability to gain weight. The standard treatments for cystic fibrosis revolve around reducing the complications and easing the symptoms. Newborn screening is known to help with an early diagnosis of cystic fibrosis. New research now believes that genes have a role to play in the treatment of cystic fibrosis. The same genes that cause cystic fibrosis are believed to affect the treatment type that may provide relief from cystic fibrosis. But how can genetics affect cystic fibrosis treatment? Let’s find out.

Genetic Mutations and Cystic Fibrosis (CF)

Cystic Fibrosis is primarily caused by genetic mutations that take place in the cystic fibrosis transmembrane conductance regulator, commonly referred to as the CFTR gene. The CFTR gene has a role to play in the production of CFTR proteins. When these CFTR proteins function as they should, this regulates the usual transport of the salt and fluids to and fro from the cells.

According to observations of the Cystic Fibrosis Foundation (CFF), researchers have been successful in identifying over 1,700 different mutation types in the specific gene that causes cystic fibrosis. In order to develop cystic fibrosis, the child has to inherit both mutated copies of this CFTR gene, one from each parent. Then, depending on the particular type of genetic mutation your child is affected by, they might be unable to manufacture the CFTR proteins. In some other cases, the children are able to produce the CFTR proteins, but these proteins don’t function properly. Both these types of defects or mutations, lead to the buildup of mucus in the lungs, increasing the risk of complications from cystic fibrosis.

But what specific types of mutations can cause cystic fibrosis in a child? Scientists have been able to develop several ways to classify the mutations of the CFTR gene.

Currently, the CFTR gene mutations are divided into five separate groups, each based on the problems they cause in the body. These five groups of CFTR gene mutations are:

  • Class 1. The gene has protein production mutations.
  • Class 2. The gene has developed protein processing mutations.
  • Class 3. The gene has gating mutations.
  • Class 4. The gene has developed conduction mutations.
  • Class 5. The gene has insufficient protein mutations.

The type of genetic mutation that the child has, determines the type of cystic fibrosis symptoms they will develop. New research now also shows that the specific type of genetic mutation the child has can also have a great impact on their treatment options for cystic fibrosis.

How Does Genetic Mutation Impact Cystic Fibrosis Treatment?

Over the last couple of years, researchers have started matching the different types of medications for cystic fibrosis to the different types of genetic mutations present in the CFTR gene. This process is called theratyping and can potentially help doctors determine the best treatment plan for a child suffering from cystic fibrosis.

Looking at the child’s genetics and age, the doctor might then prescribe a CFTR modulator, which is used for treating cystic fibrosis in many people. There are specific types of CFTR modulators that work the best only when prescribed to people who have that specific type of CFTR gene mutation.

As of today, only three CFTR modulators have been approved by the US Food and Drug Administration (FDA). These are:

  • tezacaftor/ivacaftor (Symdeko)
  • lumacaftor/ivacaftor (Orkambi)
  • ivacaftor (Kalydeco)

Nearly 60% of people suffering from cystic fibrosis would benefit from these CFTR drugs and in the future, researchers are hopeful of developing more CFTR modulators that can benefit more cystic fibrosis mutations in people.

How to Know If the Treatment for Cystic Fibrosis is Right?

If you want to know whether your child can benefit from using a CFTR modulator or any other treatment of cystic fibrosis, then you will have to consult their doctor. In certain cases, the doctor will prescribe tests that will help them learn more about the child’s condition and the gene mutation. This helps them understand how well the child will react to any medication for treatment of cystic fibrosis.

If your doctor feels that CFTR modulators are not the correct fit for your child, then there are other CF treatments available as well. Your doctor may then choose from:

  • Digestive enzyme
  • Mucus thinners
  • Antibiotics
  • Bronchodilators

Apart from prescribing medications for treating cystic fibrosis, your doctor or healthcare team will also teach your child how to carry out airway clearance techniques (ACTs) which will help dislodge and drain the accumulated mucus from the child’s lungs when suffering from cystic fibrosis.


Different types of genetic mutations are responsible for causing cystic fibrosis (CF). The same specific types of mutations can now also have an influence on the child’s symptoms, as well as their treatment plan for cystic fibrosis. If you want to find out if CFTR modulators are the right treatment for your child, then you should discuss this with your healthcare team and doctor. Genetic testing is usually the first step at determining whether CFTR modulators will help your child or not.

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Team PainAssist
Team PainAssist
Written, Edited or Reviewed By: Team PainAssist, Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:March 2, 2019

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