Why Is Genetic Counseling Important for FAP Patients?

Emily Malcolm, PhD avatar

by Emily Malcolm, PhD |

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If  you or a family member are diagnosed with familial amyloid polyneuropathy (FAP), a rare progressive disease that affects nerves and other tissues, you should talk to your doctor about getting genetic counseling.

What is genetic counseling?

Genetic counselors are trained to talk to people with a genetic disease and their families. These counselors work to educate people about their disease. They can calculate a patient’s risk of transmitting the disease to the next generation. They can also help to determine whether other family members need to be tested for the disease.

Genetic counseling is important if you are pregnant or thinking of becoming pregnant, and for managing your health.

Why is it important for FAP patients?

Early diagnosis is key to treating FAP and slowing down its progression. Once the disease has progressed beyond stage 1, it can be very difficult to treat. If doctors identify patients while they are still asymptomatic, treatment is much more effective.

Patients with late-onset FAP may have already had children before their diagnosis. In such cases, it is very important to determine whether a child has inherited the disease so that treatment, if needed, can begin before symptoms appear.

Genetic counseling can help you determine if you or other family members should consider being tested for FAP. It can also help you come to terms with either a positive or negative genetic test.

What happens if I test positive for FAP?

Your doctor and the genetic counselor will explain to you the results of your genetic tests. The genetic counselor will talk to you about the risk of passing the disease onto your children if you decide to have any. If you are asymptomatic, your doctor will discuss disease symptoms that you should be on the lookout for, as well as treatment options.

Your doctor may recommend regular checkups to try and identify symptoms early.

What happens if I test negative for FAP?

Many people need the support of a genetic counselor even after a negative genetic test, as it is common for them to feel “survivor’s guilt” when they test negative.

You may be feeling guilty or uncomfortable with testing negative, especially if someone in your family has tested positive. If you are feeling uncertain, lost, or sad following a negative test result, it’s very important that you seek support from your doctor, genetic counselor, or another therapist.


Last updated: April 15, 2020


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