At 25-years-old and with a year of marriage behind her, Madison Certonio has already done most of the screenings and lifestyle changes a 45-year-old woman should do.
After joining HerediGene: Population Study at St. George Hospital in 2019, Madison is among the few to recently learn she’s at a high risk of getting breast cancer — a disease that took the lives of her grandmother and great-grandmother.
“I feel like my life has been saved because I knew there was a gene in our family but I didn’t know I had it,” says Madison, who goes by Madi and lives in Santa Clara, Utah. “The genetic counselor put me at about an 80% chance of getting breast cancer. I was super emotional about it, but grateful for what was found so I can prevent it from growing.”
Madi has BRCA 2, a gene most commonly affected in hereditary breast and ovarian cancer. About 3% of breast cancers and 10% of ovarian cancers result from inherited mutations in the BRCA 1 and BRCA 2 genes, according to the Centers for Disease Control and Prevention. She’s learned BRCA 2 runs in her father’s family and has a 50% chance of affecting her siblings. They’ve all joined HerediGene and her father is getting additional genetic testing. BRCA 2 in men presents an increased risk of prostate, pancreatic, and breast cancers.
“HerediGene is helping us discover an entire population who have an inherited cancer risk,” says Lincoln Nadauld, MD, PhD, HerediGene: Population Study founder and Intermountain oncologist. “It’s allowing us to intervene and do studies and tests early so that if they develop a cancer, we find it early when it’s so easy to cure. Madi’s a perfect example of that.”
Madi Cirtonio speaks at a recent news conference about her experience with HerediGene while Howard McLeod and Dr. Lincoln Nadauld look on.
Dr. Nadauld joined Madi and the genetic study’s principal investigator, Howard McLeod, PharmD, in recent news conference at the St. George Cancer Center to talk about her experience. Watch the full news conference.
“One of the exciting things about the HerediGene study is that we’re actually finding these people, and getting them help,” says Dr. McLeod, who also leads Intermountain Precision Medicine and Genomics as its executive clinical director.
In addition to helping people such as Madi understand what risks already lie in their DNA, HerediGene is also a major global collaboration and study focused on discovering new connections between genetics and human disease. So far nearly 150,000 people have enrolled to date with researchers hoping it yields a new understanding about who’s at risk for what conditions, which medications may work in some patients and not others, and contribute to a greater understanding in overall human biology.
“We know enough to do good, but we don’t know enough to be great,” says Dr. McLeod. “The HerediGene study is a research study that gives back. People’s contribution to HerediGene is going to help them know their risks, but it’s also going to help a lot of other people.”
To learn how you can help, go to HerediGene.org.
Madi has decided to follow her doctor’s recommendation of getting annual breast MRIs, pelvic ultrasounds, and the CA 125 test, which measures the amount of protein CA 125, a cancer antigen, in her blood. After she turns 30, Madi will undergo breast MRIs or a mammogram every six months. Then between the ages of 35 and 45, she’ll consider preventative surgeries, like mastectomy and hysterectomy. Knowing what lies ahead has also pushed up the timeline when she and her husband may want to start having children.
“It’s scary, but knowledge is power, and I’m grateful to know this information at this stage of my life so I can make decisions and choices that will ultimately help to save my life,” Madi says. “Thanks to the HerediGene study, I now have choices because I now know my health risks and take the necessary steps to protect my health.”
Watch the news conference | Join HerediGene | Leave a comment