Genetic Counseling for Cystic Fibrosis

If you have cystic fibrosis (CF) or if CF runs in your family, your doctor might suggest genetic testing. People get genetic testing for a variety of reasons. You do not have to be pregnant or thinking about starting a family to see a genetic counselor.

What is genetic counseling?

Genetic counseling helps give you information about how genetic disorders such as cystic fibrosis might affect you and your family. The counseling process helps you identify your risk of genetic disorders, look at your family health history, and interpret information. The counseling can also help you decide whether to get genetic testing or not.^1,2

What does a genetic counselor do?

A genetic counselor can see people in an office or hospital setting. They can work with obstetricians, oncologists, and other specialists. Genetic counselors can provide general or specialized services in different areas, including:²

• Prenatal and preconception – People thinking about starting a family or those who are already pregnant
• Pediatric – Children and their families
• Cancer – People with cancer and their family members
• Cardiovascular – People with heart conditions and their family members
• Neurology – People with brain and nervous system conditions and their family members

Genetic counselors can provide you with information about genetic diseases. They can help you find out how likely it is that you or a family member has or will have a genetic condition. This can help you decide if genetic testing is right for you. If you do get testing, the counselor can explain the results and help you understand what they mean for your health.¹

Genetic counselors can also help people get genetic testing covered by their insurance company.³

How can genetic counselors help people with CF?

Genetic counselors can help people with CF in a variety of ways.

If you or your partner live with cystic fibrosis and are thinking about starting a family, a genetic counselor can help show you how the CF gene is passed down. The CF gene is also called a CFTR mutation. In order to have CF, a child needs to inherit 1 copy of the CFTR gene mutation from each parent. People with 1 CFTR gene are carriers. People with 2 CFTR genes have CF.³

If the non-CF partner has not been tested to see if they are a carrier of the CFTR gene, the genetic counselor can talk with them about what that includes. When the results come back, they review them with you and explain them. The American College of Obstetricians and Gynecologists (ACOG) recommends that all couples who are thinking of having a baby or those who are pregnant be offered CF testing.³

If you have cystic fibrosis or are a carrier, genetic counselors can help you in other ways, too. Certain CFTR mutations are linked to different symptoms of CF. Some mutations affect the gastrointestinal (GI) tract more than the lungs. Some mutations can cause more severe symptoms than others. A genetic counselor who specializes in CF can review this information with you and work with you on the best ways to manage your disease.³

Conditions linked to CF carriers

There are a variety of conditions that are linked to CF carriers. Some of these conditions can include:⁴

• Constipation
• Male infertility
• Chronic pancreatitis (long-term inflammation of the pancreas)
• Gallstones
• Diabetes
• Scoliosis (sideways curvature of the spine)

A genetic counselor can review your genetic mutation with you and what it might mean. They can give you information about conditions that are linked to CF and their symptoms. They can also speak with your doctor to help you get the right care for your specific needs.

How can genetic counselors help people who have a family history of CF?

If you have a family history of cystic fibrosis, the genetic counselors can take a detailed family history. They will talk with you about how likely it is that you or a family member has a genetic condition. They can then discuss whether genetic testing is an option and what that includes.³

How do I find a genetic counselor?

If you have a family history of CF, are thinking about starting a family or are pregnant, or have a child or loved one with CF, you might want to get in touch with a genetic counselor.

There are many ways to find a genetic counselor. The National Society of Genetic Counselors has a directory you can search. If you are looking for a genetics clinic, you can use the American College of Medical Genetics and Genomics Genetics Clinics Database. If you are pregnant or thinking of becoming pregnant, ask your OB/GYN if there is a genetic counselor they recommend.

Would you like to talk to others in the CF community about genetic testing? Reach out in our forums.