×
×
homepage logo

Woman credits Intermountain Healthcare DNA study for catching cancer risk

By Jamie Lampros - Special to the Standard-Examiner | Oct 20, 2022

Image supplied, Adobe Stock

Photo illustration

Madison Certonio recently learned that her decision to participate in the world’s largest DNA mapping initiative may end up saving her life.

During a press conference Wednesday, the 25 year-old said she learned from the study that she has the BRCA 2 gene that puts her at a 65% to 80% chance of developing breast cancer at some point in her life. She also has a higher risk of developing ovarian and skin cancers.

“About a year ago, I went to my doctor for routine blood work and I got a call a couple of days later asking if I would like to join the study,” she said. “I said yes because my dad is adopted and we didn’t have a lot of history on him. A couple of months later, I got a letter in the mail saying they found some gene mutations on my blood work.”

Certonio was told she could meet with a genetic counselor and receive further testing to confirm the result. She did so and is now taking extra precautions such as yearly screening tests to make sure if any cancer shows up, it will be caught early enough to successfully treat.

“Knowledge is power,” she said. “I’m really lucky to have been able to find this out because my sisters, brother, mom, dad and any future children can all be tested and find out if they have the gene.”

Certonio said she will receive annual breast MRIs and pelvic ultrasounds as well as the CA 125 test, which measures the amount of protein in her blood. CA 125 is a cancer antigen. After the age of 30, she will begin testing every six months.

“When I’m around 35 or 45 they want to discuss possible mastectomy and reconstruction and removal of my ovaries and fallopian tubes,” she said. “I’ll discuss it and choose what I want to do and how to proceed.”

HerediGene: Population Study is the world’s largest DNA mapping initiative. Intermountain Healthcare and deCode Genetics, a subsidiary of biopharmaceutical company Amgen, based in Reykjavik, Iceland, are collecting and studying DNA of people in Utah and Idaho.

“HerediGene is helping us discover an entire population who have an inherited cancer risk,” said Dr. Lincoln Nadauld, HerediGene study founder and an Intermountain Healthcare oncologist. “It’s allowing us to intervene and do studies and tests early so that if they develop cancer, we find it early when it’s easy to cure. Madi’s a perfect example of that.”

So far, nearly 150,000 people have enrolled in the study, said Dr. Howard McLeod, HerediGene study principal investigator for Intermountain Healthcare and executive clinical director for Intermountain precision medicine and genomics. The goal is to enroll 500,000 people.

“This allows us to understand well before there’s a problem and what might be coming,” he said. “So knowing there’s a problem allows us to deal with it now before it becomes an urgent emergency. If we know there’s a risk, we can deal with it and plan for it.”

Nadauld said when the study was launched in 2019, researchers anticipated 2% to 2.5% of people would have a gene that required follow-up.

“But we’re finding out it’s closer to 8% of the population, which is three times higher than what we thought,” he said.

Anyone of any age can participate in the study. To enroll, go to any Intermountain Healthcare facility and donate a blood sample.

Starting at $4.32/week.

Subscribe Today