HerediGene Population Study designed to prevent genetic disease now including children

BOUNTIFUL – The largest DNA study in the country takes place here in Utah. Doctors believe it could change the way they deliver future health care and hopefully even prevent chronic diseases such as diabetes, heart disease and cancer. A Bountiful mother explains why she wants her family to participate.

For Elissa Smith, family is everything. She is a mother of four and the eldest child of Durward Wadsworth, born in St. George. KSL told his story 18 months ago when he participated in Intermountain Healthcare’s HerediGene Population Study after beating colon cancer.

Durward Wadsworth, 78, has survived colon cancer, but is now undergoing chemotherapy for lung cancer. Some of his children and grandchildren are participating in the HerediGene Population Study to better understand the link between genes and human diseases. (Photo: Elissa Smith)

Wadsworth underwent 12 courses of chemotherapy at the Dixie Regional Cancer Center. “It’s not a nice treatment,” he said. Since then, 78-year-old Wadsworth has developed lung cancer and is now undergoing chemotherapy again.

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

Smith’s son, 14-year-old Craige Smith, was devastated by his grandfather’s diagnoses. “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 knows that her father’s diagnoses affect all three generations. “It was life-changing because a cancer diagnosis, what I’m learning, is that it affects not only the person who has cancer, but the whole family,” she explains, increasing the likelihood that other family members will have similar genes. .

“My chances of getting cancer, my husband’s chances are very high. He’s one of the biggest killers,” she said.

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

Elissa Smith, her husband, and their four children participated in Intermountain Healthcare’s HerediGene Population Study after her father was diagnosed with cancer. The study aims to study the link between genes and diseases in humans, and doctors believe it will help them better predict and prevent chronic diseases such as stroke, heart disease and cancer. (Photo: Intermountain Healthcare)

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

Naudald hopes to map the human genome of more than 500,000 participants. Today, Intermountain has enrolled more than 60,000 study participants. “That’s actually more participants in a single study than in all of our other studies combined,” said Naudald.

The study now includes children and has no age limits for who can participate. Naudald expects to enroll up to 50,000 children and their parents.

It shouldn’t change my life. But I really hope it changes my grandchildren’s lives.

–Elissa Smith

“Knowing who carries which genes is critical because then we can take better care of them and help them truly live their healthiest lives,” he said. Naudald believes this study has the potential to even prevent strokes, heart attacks and liver failure, and in other cases, such as cancer, “we can treat it when it’s very early, and it’s so easy to cure,” he said. the result of genetic diseases in the future.

“It will continue to help generations to come 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 we can do something about it.”

Smith believes this is the future of medicine. “Things like this can make the biggest difference and maybe we can finally beat cancer,” she said. Beautiful as the Dixie Regional Cancer Center is, Smith hopes the building will one day be razed to the ground or used for something else once cancer is eradicated.

“This research study tries to take away some of the worst outcomes in healthcare so we never experience them,” Naudald said.

Craige Smith said the blood draw was worth it. “You know, at the end of the day you might help someone heal from cancer,” he said. “If it could save the life of one of my children — why not?”

“It may not change my life. But I really hope it changes my grandchildren’s lives, ”said Elissa Smith. “I hope they don’t have to watch me go through cancer.”

So far, the HerediGene team has mapped the genomes of 10,000 people. “We’ve mapped all 3 billion pieces of their DNA so we know where there are errors or mistakes, and we know better what health problems they might face,” explains Naudald.

Intermountain says they are already making important discoveries. “We found 200 people who carry a gene that puts them at a very high risk of developing breast cancer or ovarian cancer. We found other people who will have a stroke or a heart attack. We have other people who will have liver problems. “he said.

They plan to give that information back to the patient and put them in touch with a genetic counselor who can help those patients prevent the disease through screening programs, medications or lifestyle choices, Naudald said.

They expect that 2-3% of the participants will be made aware of an immediate health risk that will be addressed with the help of a genetic counselor. Those interested can visit an Intermountain lab or call 1-833-698-1727.



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