A year ago, 25-year-old St. George resident Madi Certonio went in for her annual bloodwork.
When the lab realized it had taken an extra vial, they followed up to ask if Certonio would like to join an extensive genetic study that Intermountain Healthcare and deCode Genetic are currently conducting.
She said yes — and a few months later, Certonio found out she had a genetic mutation that made her much more likely to develop breast or ovarian cancer.
“Since the confirmation, I’ve had to meet with a high-risk oncologist here at the cancer clinic and have further testing,” Certonio said. “A care plan was [put] in place, and I’m able to do everything normal, continue my life, but I’m just taking extra precautions.”
“From all this, I just know knowledge is power,” she said. “I’m really, really lucky that they found this.”
Certonio is a part of the HerediGene population study, the largest planned DNA mapping initiative of its kind in the world with over 150,000 people currently enrolled, according to a news release. Intermountain and deCode Genetics — a subsidiary of an Iceland biopharmaceutical company — are collecting and studying the DNA from thousands of Utahns and Idahoans to help more people like Certonio.
The study is looking to help 500,000 individuals, and is available to anyone — even non-Intermountain patients — at no cost statewide. Patients of any age, with or without medical conditions, can participate by signing a consent form and providing a tube of blood at any Intermountain facility.
“We anticipated that approximately 2.5% of participants would have a gene that will would require us to call and return those results,” Dr. Lincoln Nadauld, founder of the HerediGene study and an Intermountain oncologist, said.
But now, after the first “many thousands” of patient samples have been evaluated, Nadauld said researchers are finding that closer to 8% of participants harbor such genes.
“So, happily, we are calling those individuals who are impacted by this, we are informing them of whatever condition we have found, and we’re helping them to receive the care that they need across all those conditions,” Nadauld added.
Certonio’s father, Claude Gubler, was adopted — and he thought he would never know his full medical history. He “miraculously” was able to locate his birth family about 10 years ago, and learned his birth mother and sister both had a history of breast cancer.
But he didn’t know about the high-risk BRCA2 gene until his daughter participated in the study. The gene can also carry an increased risk of prostate and pancreatic cancer in men. Now, Certonio’s entire family is planning to be tested to ensure they know their cancer risk, “so it’s essentially saving a ton of lives,” Certonio said Wednesday.
“I was pretty emotional about it, because it’s kind of big news — shocking news — when you’re 25 years old,” Certonio said. “But then I realized I’m young, and there’s tests that can keep me safe. ... I could have gotten cancer and had no idea that I had the gene. And now we can catch it early, because I know. So I have a choice now.”
The study has already found a genetic link to vertigo, and Nadauld said it could lead to a cure for cancer through early detection — since Nadauld said stage 1 cancers can be easy to treat or even cure.
“Something that has always bothered me are patients who unknowingly show up in an emergency room across one of our dozens of hospitals, and they are found to have an advanced or metastasized form of colon cancer or breast cancer at a young age that — in fact — they inherited,” Nadauld said. “When we don’t know that someone carries a gene, then they would unknowingly carry on with their life only to then develop this silent cancer that then spreads and becomes incurable.”
Certonio now plans to be screened annually with an MRI until she turns 30. Then, she will rotate between a semi-annual mammogram or MRI along with a yearly blood test and pelvic ultrasound.
Once she is in the 35-45 age range, she will look at preventative surgery options, like a possible double mastectomy, she said.
“I still have a while to decide what I want to do, but there’s options to treat it and that’s what I’m grateful for,” Certonio said. “I have a choice now; I get to choose what I want to do, how I want to proceed.”
