Genetic testing advances give hope to people with rare diseases

Rare diseases have long been difficult for doctors to diagnose and treat. Symptoms can be vague or confusing and the diseases are often not widely known. People living with rare diseases called primary immunodeficiencies (PIDs), including neutropenia, face challenges with diagnosis and treatment. Their journey to find answers may include years of infections and illness that seem to be unrelated. In fact, there are more than 400 genetic mutations that cause the immune system not to function properly, and misdiagnosis is common. A new website called harnesses the power of genetic testing advances to change that.

Primary immunodeficiencies (PIDs) such as congenital neutropenia are caused by changes, or mutations, in genes involved in the immune system. In recent years there has been a huge leap in discovery of genetic mutations that cause PIDs and neutropenia. These discoveries are leading to more personalized treatments. With personalized medicine, doctors can tailor a person’s treatment based on that individual’s specific genes and disease. It can allow doctors to pick the right medicine at the right dose and the right time, instead of giving the same treatment to everyone.

For people living with a PID like neutropenia, the results of a genetic test are about more than satisfying a curiosity about their ancestry or potential health risks. These results may alter the course of their diagnosis, treatment and prognosis.

In fact, a recent study of genetic testing in people suspected of having PIDs showed significant results. More than half of the study participants received a change in their diagnosis, and more than a third changed treatments due to the genetic test results.

“If you’re living with severe neutropenia, talk with your doctor to see if genetic testing is an option for you,” said Daniel Link, M.D., Department of Medicine, Washington University School of Medicine in St. Louis. “New advances are being made all the time, and a clinical trial or targeted treatment may be available for your specific genetic mutation.”

Genetic testing might help you …

  • Make informed choices about your healthcare
  • Get a better diagnosis faster
  • Learn the risk for your family members
  • Find resources, like patient communities and organizations, for your condition
  • Better understand your options for taking part in clinical trial research

If you are living with a rare disease such as PID or neutropenia, there may be a targeted treatment available now or clinical trials to study treatments that need volunteers like you. Visit to learn more about your options and how genetic testing may be able to help, as well as links to resources for free genetic testing.

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