Primary immunodeficiency (PID), for example, neutropenia, can run in families, so be sure to share your family history with your doctor. The Jeffrey Modell Foundation recently conducted a pilot program called “Jeffrey’s Insights” to offer genetic testing to patients with a suspected PID. After testing 158 patients, doctors found that other people with PID were identified in the family for 14 percent of patients.
Genetic counselors are part of your healthcare team. Their role is to help you understand genetic information. Some genetic counselors specialize in a certain area such as cancer or immunology.
Genetic counselors often work with people with a primary immunodeficiency (like WHIM syndrome, CVID, or severe neutropenia) when they are first diagnosed to help explain the genetic condition. They might also provide advice on family planning or how to share genetic information with relatives.
Genetic counselors also can help you understand what genetic tests are available and what the results may show. They can help you decide if it is something you want to do. If you do decide to get a genetic test, they can help you understand the results.
Some testing programs, such as PATH4WARD, include free genetic counseling for patients who qualify.
A genetic counselor is different from a geneticist. A geneticist is a doctor who studies genes and plays an important role in the diagnosis and management of a genetic condition. However, they are focused on making the diagnosis. A genetic counselor is more focused on helping with treatment decisions and providing support.