Primary immunodeficiencies (PIDs), including congenital neutropenia, are caused by changes, or mutations, in genes involved in the immune system. In the last 20 years, newborn screening and other genetic tests have increased the ability of doctors to diagnose many types of PIDs, including neutropenias. In turn, researchers and doctors have then been able to discover treatments that target these specific PIDs and neutropenias.
If you are living with a PID including neutropenia, there may be a targeted treatment available now or clinical trials to study treatments that need volunteers like you. The Jeffrey Modell Foundation recently conducted a pilot program called “Jeffrey’s Insights” to offer genetic testing to people with a suspected PID. After testing 158 people, doctors changed their suspected diagnosis in 67 percent of people in the program. Thirty-six percent changed treatment, and 45 percent of people in the program saw changes in diagnosis.
Genetic testing can be a helpful part of family planning, whether you are starting or growing your family. Carrier, or reproductive, testing looks at the genetic variants or mutations of the biological mother and father to help people make choices with their doctors before getting pregnant.