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Is a Rare Disease in Your Genes?

At-home genetic testing may help you answer that life-changing question.

Alpha-1 Patient Alice Walker


One in 1 million people in the United States suffer from congenital afibrinogenemia. One of every 1,200 has a primary immunodeficiency, such as common variable immunodeficiency or x-linked agammaglobulinemia. Sickle cell disease: 1 out of every 365 African American births. Cystic fibrosis: 1 in 3,200 Caucasian births.


Taken individually, rare diseases are clearly that – rare – which means they often get less attention than more prevalent conditions, like cancer or heart disease.


But do the numbers really tell the whole story? Add them up and a different stat emerges: 1 in 10 people are living with a rare disease. That’s about 30 million people in the U.S. and 350 million worldwide.


And that raises an alarming question: Is there a rare disease lurking in your genes?


“Everyone in the world has genetic variants that predispose them to certain conditions,” said Amy Sturm, professor and director of Cardiovascular Genomic Counseling and a senior investigator at Geisinger. “These mutations in the genome can lead to rare diseases, like hemophilia, to more common diseases, like coronary artery disease.”


Knowing your family history is easier than ever these days – from DNA tests that can be found on the Internet to an increased awareness of the role genetics can play in serious medical conditions and even at-home genetic testing kits. 


“No matter what phase of life you are in – there are many reasons to have a genetic test,” said Sturm, who is also a member and President-Elect of the National Society of Genetic Counselors. “It’s empowering and can lead to personalized treatment and environmental and behavioral changes that can make a real impact on health outcomes.”


North Carolina native and certified pharmacy technician Alice Wilson, now 42, could tell something was wrong with her body in her early 30s.


“I was feeling tired all of the time. I had shortness of breath, repeated lung infections – one that I couldn’t shake for nearly a year,” Wilson said. “My first doctor thought it was all in my head – attributing it to depression and anxiety. It was really frustrating.”


It wasn’t until Alice visited a lung specialist, three years later, that she received an accurate diagnosis. “Four drops of blood was all that it took to find out that I had Alpha-1 Antitrypsin Deficiency (Alpha-1),” Wilson added.


Alpha-1 is a life-threatening genetic condition, said Dr. Laurel Omert, CSL Behring’s medical director for Specialty Care in the U.S. “There is decreased production of the Alpha-1 protein in the liver or the protein is not functioning appropriately,” she said. “If undiagnosed and untreated, this can result in both serious lung disease and or liver disease.”


Dr. Omert endorses genetic testing, but she cautions that not all test kits are created equal. “It’s critical to know what the science is based on, how rigorous the results are, and to connect with your healthcare provider and, even, a genetic counselor first,” she said.


For Wilson the diagnosis of Alpha-1 helped improve her life. “When I was first diagnosed I thought the world was going to end and that I was not going to be able to live the life that I wanted. But I quickly learned that your life is not going to end. I began appropriate treatment and continue to lead an active life.”


Sturm’s advice if you discover a serious medical condition in your genes:


• Be your own advocate

• Know your symptoms, medical history and family history

• Reach out to your healthcare provider

• Connect with a genetic counselor (


“Your DNA isn’t your destiny,” Sturm added.