HerediGene Population Study Designed To Prevent Genetic Disease Now Includes Children

May 14, 2021, 3:47 PM

BOUNTIFUL, Utah — The largest DNA study in the country has begun in Utah. Doctors believe it can change the way they deliver future health care, and hopefully, prevent chronic illnesses like diabetes, heart disease, and cancer.

One Bountiful mother shared why she is eager for her family to participate.

For Elissa Smith, family is everything. She’s a mom to four, and the oldest child of St. George native Durward Wadsworth.

KSL told his story 18 months ago, when he participated in Intermountain Healthcare’s HerediGene Population Study after beating colon cancer.

Wadsworth went through 12 rounds of chemo at the Dixie Regional Cancer Center.

“It’s not a fun treatment,” he said.

Since then, 78-year-old Wadsworth has developed lung cancer and is going through chemotherapy again.

“And this time, he’s been a champion, but it takes a toll,” his daughter, Elissa Smith said. “My dad’s at a point where he will just have to keep doing chemotherapy to stay alive, pretty much.”

Smith’s 14-year-old son, Craige Smith, was devastated by his grandpa’s diagnosis.

“It was just really hard,” he said. “He’s a really cool guy… we make such good memories with him. I want to spend a lot of time with my grandparents.”

Smith said her father’s diagnosis has affected all three generations.

“It was life-changing because a diagnosis of cancer, what I’m learning, is it doesn’t just impact the person that has cancer, it impacts the entire family,” she explained, increasing the likelihood that other family members carry similar genes. “My chances of getting cancer, my husband’s chances, are really high. It’s one of the biggest killers.”

That’s why Smith, her husband, and their four kids recently participated in the HerediGene study, designed to help doctors better predict and prevent human disease through genes with a simple blood draw. 

“It’s very powerful to have information both from children and their parents because then we can understand how things are working through generations,” said Dr. Lincoln Naudald, Intermountain Healthcare medical oncologist and a vice president and chief of precision health and academics.

Naudald hopes to map the human genome of more than 500,000 participants.

As of Thursday, Intermountain has enrolled more than 60,000 participants in the study.

“That’s actually more participants on a single research study than in all of our other research studies combined,” said Naudald.

Children have now been added to the study and no age limit has been set on who can participate.

Naudald anticipates they will enroll up to 50,000 children and their parents.

The study is now including children and has no age limits on who can participate. Naudald anticipates they’ll enroll up to 50,000 children and their parents.

“Knowing who carries which genes is critical because then we can better care for them and help them truly live their healthiest lives,” he said.

Naudald believes the study has the potential to prevent strokes, heart attacks, and liver failure from even happening.

In other cases like cancer, “we can treat it when it’s really early, and it’s so easy to cure,” he said, changing the outcome of genetic disease in the future.

“It will continue to help subsequent generations for decades to come,” he said. “So often we talk about condition X, Y, or Z runs in our family, right? We tell those stories at our family parties, and now, there’s something that we can do about that.”

Smith believes this is the future of medicine.

“This is the kind of stuff that can make the biggest difference, and maybe, we can finally beat cancer,” she said.

As wonderful as the Dixie Regional Cancer Center is, Smith hopes one day that building will be bulldozed or used for something else when cancer is eradicated.

“This research study is trying to eliminate some of the worst health care outcomes so that we never experience them,” Naudald said.

Craige Smith said the blood draw was worth it.

“You just know, at the end of the day, you’re helping someone maybe get cured from cancer,” he said. “If it could save one of my kids’ lives — why not?”

“It may not change my life, but I sure hope it changes my grandkid’s lives,” Elissa Smith said. “I’m hoping they won’t have to watch me go through cancer.”

So far, the HerediGene team has mapped the genome of 10,000 people.

“We have mapped all 3 billion pieces of their DNA so that we know where there are any errors or mistakes, and we know better what health conditions they might face,” said Naudald.

Intermountain said they’ve already made significant discoveries.

“We have found 200 individuals who carry a gene that places them at very high risk to develop breast cancer or ovarian cancer. We have found other individuals who will have a stroke or heart attack. We have other individuals who are going to develop liver problems, liver failure,” he said.

They plan to return that information to the patient and connect them with a genetic counselor who can help those patients avoid the illness through screening programs, medications, or lifestyle choices, Naudald said.

They anticipate 2-3% of participants will be notified of an immediate health concern, which will be addressed with the help of a genetic counselor.

Those interested in participating can visit an Intermountain lab or call 1-833-698-1727.

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HerediGene Population Study Designed To Prevent Genetic Disease Now Includes Children