What Is Genetic Counseling and Why Is It Important in Pompe Disease?

If you, your partner, or anyone else in the family has Pompe disease, you may wonder whether the disorder also will affect your future children. Genetic counseling can help you calculate the risk and help you with genetic testing and family planning.

What do genetic counselors do?

Genetic counselors are healthcare professionals who can educate families about inheritance patterns of genetic diseases. They also can help you deal with emotional concerns, and refer you to other healthcare providers and advocacy and support groups.

Genetics of Pompe disease

Mutations in the GAA gene, which contains instructions for making an enzyme called acid alpha-glucosidase, are responsible for Pompe disease. The disease is inherited in an autosomal recessive pattern. This means it develops only in people who inherit two faulty copies of the gene — one from each parent.

Individuals who have one faulty copy of the gene usually do not show any symptoms. They are called carriers because they can pass the disease to their children. When both parents are carriers, there is a 25% chance that a child will inherit both faulty copies of the gene and develop Pompe disease. A child has a 50% chance of inheriting one faulty copy of the gene and also becoming a carrier. Finally, they have a 25% chance of inheriting two healthy copies of the gene and neither developing the disease nor being a carrier.

Genetic counseling after genetic testing

After your initial genetic counseling session, you might choose to have genetic testing. Genetic counseling after testing can help you better understand your test results and treatment options so you can make informed decisions.

Genetic counselors also can support you through family planning. They can discuss your options, including in vitro fertilization with a pre-implantation genetic diagnosis. Here, doctors can test embryos for the genetic defects  before they implant them in the mother’s uterus.

Family members who are at a high risk of being a carrier of Pompe disease should be informed of the family’s history of the disease and any genetic test results that are available as they may want to undergo genetic testing themselves. Carrier testing of minors usually is not recommended.

Last updated: May 26, 2020

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