After getting her test results back, Shauna spent some time exploring her ancestry, but eventually she was drawn to the reports on her health and traits.“I remember when you first click on that there’s this waiver that says what you might learn could be upsetting and then it asks if you really want to know,” she said. “I’m like ‘Heck yeah, I want to know.’”
She was surprised what she found out.“The genetic screening revealed that I’m homozygous for the C282Y mutation that causes hereditary hemochromatosis,” Shauna said.Hemochromatosis is the most common genetic disease among people of European ancestry and can cause iron overload in the body. It’s difficult to diagnose and undetected it can lead to serious damage to the organs, particularly the liver. There are several forms of hereditary hemochromatosis. 23andMe currently reports on two genetic variants in the HFE gene that can lead to the condition — C282Y and H63D. Up to 90 percent of those with hereditary hemochromatosis are like Shauna and have two copies of the C282Y variant.At her next physical, Shauna talked to her doctor asking if she could draw an extra tube of blood to do an iron study.“Sure enough my serum ferritin and iron saturation percentage were sufficiently high that she referred me to a hematologist.”The standard early treatment is some basic dietary changes and “therapeutic phlebotomy” or regular blood draws. After a few months of treatment, Shauna tested again and found her levels were down closer to normal.“By catching my elevated iron levels early, my doc thinks I will be able to avoid late-life iron overload symptoms,” Shauna said.Her doctor has suggested a maintenance plan that involves blood draws every six months and annual monitoring of her iron levels as a part of her routine physicals.
Without the screening she might have never known, she said.“As a triathlete I’m constantly experiencing bodily pain as a consequence of working-out hard,” she said. “I could see in my 50s chalking up things like joint pain and other symptoms to my training and not (the disease).”Because hemochromatosis is often found in families, her parents and siblings are now getting tested too. For Shauna what she learned empowered her to make a change.“Thanks to 23andMe for giving me a heads-up on a preventable disease that was lurking in my genome,” she said. “Getting an early heads-up about my genetic background has led me down a treatment path that should pay off big for my future.”
Results will vary due to unique differences in each individual’s DNA. On average users receive at least one or two results that may be relevant to proactively managing health. 23andMe’s service does not diagnose disease. 23andMe is not a substitute for professional medical or diagnostic advice.