Largest DNA Mapping Study Already Saving Lives

St. George Woman Discovers Breast Cancer Risk Thanks to Participation

The world’s largest initiative to map the DNA of an entire population will benefit patients for years to come, but for a 25-year-old Utah woman, her participation in this groundbreaking study has already proved to be lifesaving.

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

Thus far, nearly 150,000 people have enrolled in the innovative study. One of those was Madison “Madi” Certonio of St. George, Utah. Madi just learned that her decision to participate in the study may have saved her life.

During an annual physical exam with her Intermountain primary care physician several years ago, Certonio’s blood was drawn to review her lab panels. She was asked if she wanted to donate a small blood sample to participate in the study. She said yes, not giving it a lot of thought, and not knowing at the time how important that decision would turn out to be.

The goal of this massive genomic mapping initiative is to discover new connections between genetics and human disease. For participants in the HerediGene study, it’s also providing vital genetic screening information so they know about their risks of disease development, and what actions they can take to protect their health.

“HerediGene is helping us discover an entire population who have an inherited cancer risk,” said Lincoln Nadauld, MD, PhD, HerediGene study founder and Intermountain Healthcare 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.”

Thanks to her participation in the HerediGene study, it was discovered that Certonio carries the BRCA2 gene, which means that she is genetically predisposed and at high-risk to develop breast cancer.

After consultation with Intermountain genetic counselors, Certonio learned she has a 65 to 80 percent chance of developing breast cancer at some point in her life. She’s also at higher risk of developing ovarian and skin cancer.

Certonio knew she had a family history of breast cancer, and that her father was adopted, but had no idea that she was a carrier of the BRCA2 gene and was genetically predisposed to develop breast cancer.

“It’s scary, but knowledge is power, and I’m grateful to know this information at this stage in my life so I can make decisions and choices that will ultimately help to save my life,” said Certonio. “I’ve had a lot of big changes in my life finding this out, but these are changes that will help save me.”

For now, that means annual breast MRIs for Certonio, 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, Certonio will undergo breast MRIs or a mammogram every six months.

Between the ages of 35 and 45, she’ll be considering preventative surgeries, like mastectomy and hysterectomy. She’s recently married and knowing what lies ahead has also pushed up the timeline of when she and her husband may want to start having children.

“I want to be here to watch my kids have kids,” she said. “I’d rather be there in their lives than have cancer. 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.”

Members of her family, some of whom have a 50 percent chance of also having the BRCA2 gene, are now also part of the study, and will undergo genetic counseling. That includes male family members, since they can also have the mutation, which would put them at a higher risk of developing prostate cancer.

Out of the first 25,000 HerediGene study enrollees, about 3,700 people required additional genetic screenings and counseling, like Certonio, according to Howard McLeod, PharmD, HerediGene study principal investigator for Intermountain Healthcare and executive clinical director for Intermountain Precision Medicine and Genomics.

“One of the exciting things about the HerediGene study is that we’re actually finding these people, and getting them help,” said Dr. McLeod.

Intermountain and deCODE genetics launched the HerediGene: Population Study in 2019.

In addition to helping individuals understand what risks already lie in their DNA, it’s also a major global collaboration and study focused on discovering new connections between genetics and human disease.

Researchers are hoping the study yields 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,” said 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.”

Already, scientists have discovered the genetic underpinnings of vertigo, a condition that makes people dizzy and causes balance problems for nearly 40 percent of Americans at some point in their lives. It’s also the leading cause of falls and results in tens of thousands of emergency department visits a year.

Scientists in the HerediGene study have also made two more yet-to-be-published discoveries that Dr. Nadauld calls extraordinary.

“All of them have an enormous impact on how we care for patients. It’s a huge achievement,” said Dr. Nadauld.

Certonio couldn’t agree more.

“I’m so thankful to know what I know now so that I can make the best decision for me and my family,” she said. “Knowledge is power.”

– Intermountain Healthcare

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Read more from Intermountain Healthcare in AI Technology to Enhance Cancer Detection.