Pictured above: The Acevedo De Arias family with Liana Billings, MD, at Endeavor Health.
Ericka Acevedo De Arias was diagnosed with diabetes nearly 15 years ago. When her kids, Dominic (8) and Anastasia (5), received the same diagnosis, she worried they were preparing for a lifetime of insulin injections, blood sugar checks and thousands in medical costs.
But they aren’t, thanks to a groundbreaking new genomics test developed by researchers at Endeavor Health. The test revealed all three — mom and kids — actually have a lesser-known form of monogenic diabetes, often confused for Type 1 or 2, that can be managed with simple lifestyle changes alone.
“It makes me a little emotional,” said Acevedo De Arias, 35, from Waukegan. “I feel like if we hadn’t gone to these doctors, my kids would have been labeled just like I was. They freed my kids of that and opened our eyes. Our whole family — we’re just so happy they don’t need insulin anymore.”
Liberating diagnosis
After their initial diabetes diagnosis, Acevedo De Arias helped her kids adjust to wearing glucose monitors and taught them to administer their own nightly insulin shots, which left bruises on their stomachs. When they went to birthday parties, Dominic and Anastasia were frustrated that they weren’t allowed to have cookies and cake, like their friends.
“They hated that,” she said. “It was the ultimate hardest thing ever for them, because they’re kids. They don’t understand.”
But Acevedo De Arias, a home health nurse who works with diabetic patients, noticed something was off. The kids weren’t constantly thirsty, for one, and she thought, “This can’t be diabetes. This has to be something else.”
Her Endeavor Health endocrinologist, Brian Bordini, MD, agreed. He sent the family to see Liana Billings, MD, a researcher and endocrinologist at Endeavor Health, who had developed a first-of-its-kind genetic test that could give them more information.
That test revealed the family actually has glucokinase–maturity-onset diabetes of the young, also known as GCK-MODY or MODY 2, a lesser-known form of diabetes. GCK-MODY is caused by a genetic alteration in the GCK gene, which causes your blood glucose to naturally sit at a higher level. The condition tends to be milder than other forms of diabetes and does not tend to get worse.
“That means patients might not require diabetes medications, except in certain cases during pregnancy,” said Dr. Billings, who diagnosed the Acevedo De Arias family with GCK-MODY. “We simply encourage a healthy lifestyle — eating well and staying active — just as we would for anyone. For many, this can be a truly liberating diagnosis.”
In the genes
Every year, more than one million Americans receive a diabetes diagnosis. However, an estimated 1 in 2,000-4,000 people may actually have the same condition as Acevedo De Arias — it’s hard to say, though, since it’s so often missed or mistaken for something else due to symptom overlap and a lack of available testing.
“There’s a critical need for more personalized diabetes evaluation,” Dr. Billings said. “In particular, testing that leverages a patient’s genetic information to enable more precise and personalized diagnoses.”
Today, diabetes is typically diagnosed with a blood sugar test, some educated guesses based on clinical information and, at times, trial and error with medications. But that’s a one-size-fits-all approach, she said, and can lead to missed or incorrect diagnoses.
This insight inspired Dr. Billings to establish Endeavor Health’s Personalized Medicine in Diabetes Consultation Clinic, which focuses on evaluating atypical forms of diabetes, like GCK-MODY, through genetic testing. The clinic is also working to develop a comprehensive, cost-effective genetic panel to support more accurate diagnoses.
“We need to look at genetics,” said Jianfeng Xu, DrPH, Vice President of Translational Research at Endeavor Health, who developed the test with Dr. Billings. “Some of these forms of diabetes can only be diagnosed with genetic testing. Across all of healthcare, genomics is reshaping our understanding of diabetes and many other chronic conditions and sparking hope for precision care.”
The future of testing
Genetic testing is becoming increasingly prevalent in clinical settings, and could yield significant benefits for patients with chronic conditions, like diabetes, that require long-term management. Aside from GCK-MODY, genetics can play a role in many kinds of diabetes, including the more common Type 1 and Type 2.
“With genetics, we can get more precise — we don’t have to paint in broad strokes,” said Dr. Xu, who also is Endeavor Health’s Ellrodt-Schweighauser Family Chair of Cancer Genomic Research.
“We can tell you the exact genetic variant you have. We can tell you your personalized risk of developing the related disease. We can tell you that you need this specific treatment plan or that the standard one won’t work for you, which could lead to better outcomes and, in the case of diabetes, save you time and money.”
At Endeavor Health, Dr. Xu is part of the largest primary care-embedded clinical genomics program in the nation. This effort is primarily based on Endeavor Health’s large genetics research cohort, the Genomic Health Initiative (GHI), led by Alan Sanders, MD.
GHI recently welcomed its 68,000th patient. Over half of these patients have already provided a DNA sample for research, which Dr. Xu hopes will lead to breakthroughs in risk assessment, diagnosis and treatment.
For her part, Acevedo De Arias couldn’t be happier that genetic testing is making its way into daily clinical practice. She’d always thought diabetes ran in her family and that her kids’ diagnosis was inevitable. Now armed with the knowledge of their genetics and GCK MODY, she knows her kids — and their kids and their kids — may never have to deal with a lifetime of needle pricks. Her kids are excited, too.
“When I told them they didn’t have to do the monitoring or insulin anymore, they were ecstatic,” she said. “They were so happy, and our whole family was happy for them.”
For more information about this one-of-a-kind genetic test, please contact Endeavor Health at (224) 364-7502.
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