July is National Hemochromatosis Month, and 23andMe will be highlighting stories and research related to this genetic disease that can quietly lead to iron overload ultimately causing damage to the liver, kidney, heart and other organs.
Triathlete and research scientist Shauna Dudley says her tastes are unique.
“A normal woman might ask her husband for jewelry for Christmas,” said the 36 year-old, who studies rehabilitation interventions for people with spinal cord injuries. “I asked for a spit kit.”
It got on Shauna’s wish list, in part, because of her work. “We’re hearing a lot in our field about personalized medicine, which is what steered me to 23andMe,” she said.
As part of her PhD program, Shauna has studied genetics. She’s looked into things like the genetics around the effectiveness of statin drugs used to reduce the risk of heart attack in some people. As an athlete she’s also looked at whether a variant in the ACTN3 gene improves athletic performance. And Shauna felt that even as a physical therapist, she had to understand genetics because more and more of her patients are delving into this realm to learn about their own health and traits.
“I know that what’s ahead for us in medicine is that patients will know a lot more about their genome,” she said. “How are we going to respond when they come in with questions?”
But beyond the professional interest, Shauna was also curious about herself. What could she learn about her ancestry and her health, she wondered.
“Mainly I was curious about my family history,” she said. “And secondarily I was interested in what might be there in my genome.”
She didn’t suspect that her journey into her own genetics would yield information that would change her life.
“It was the best (money) I’ve ever spent,” she said.
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.”