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Genetic testing impacts the decisions one Utah family is making after cancer diagnosis

Oct 9, 2021, 9:40 AM | Updated: 5:41 pm

HERRIMAN, Utah — What if you knew your chances of getting cancer were higher than most people? And what if you knew there was a way to intervene before you got sick? One Utah family shares how genetic testing is impacting the decisions they make.

Sometimes, you find luck on your side. And other times?

It’s not so simple.

Jeff’s Diagnoses

65-year-old Jeff Fowler was diagnosed with breast cancer last March. He found a lump on his left breast about a year before but didn’t think much of it, especially since he is a man.

He grew much more concerned when the lump grew to about four centimeters.

“I could actually see it in the mirror,” he said. “You automatically go to the worst case scenario in your mind and you start thinking, ‘Wow, this is deadly.’”

After being diagnosed with breast cancer last March, Jeff Fowler had a double mastectomy and reconstructive surgery. He is not on a hormone blocking medication and his condition is stable.(Used with permission: Jeff Fowler)

But the real shock came when Fowler tested positive for the BRCA2 gene mutation, a variant that puts him and his family members at an increased risk for certain types of cancer.

“It became real when I saw the family history,” he said.

Four of his uncles died of prostate cancer and two of his aunts died from breast and ovarian cancer.

Genetic Testing

Intermountain Healthcare genetic counselor, Emily Bonham, urged Jeff to invite his family members to also be genetically tested.

“If you have the gene change, there will be a 50/50 chance that each of your children, each of your siblings, and parents also carry that genetic change,” she explained.

“They gave me a letter that I could share with all my siblings and even cousins,” Fowler said.

Fowler approached each of his siblings and his children.

Jeff Fowler is pictured with his siblings. He was diagnosed with breast cancer last March and tested positive for the BRCA2 gene mutation. His genetic counselor encouraged him to invite his siblings and children to also be tested. All but one of his living siblings took the test, though not all of them tested positive. (Used with permission: Jeff Fowler)

“‘Hey, I have cancer. It’s caused by a genetic mutation that looks like it comes through dad,’” he told them. “This is a real thing and I think we all should get tested.”

All but one of Fowler’s living relatives took the test, but not all tested positive. His sister, Kathy Jensen, took the test through a blood draw.

“Part of me wondered, ‘Do I really want to know?’ but you know, I have five kids,” she said. “And I thought, ‘You know what, I probably should find out.’”

Kathy Jensen (on the left) sits with her sister. After her brother, Jeff Fowler, tested positive for the BRCA2 gene mutation she also took the test. When she too received positive results for the mutation, she chose to have prophylactic surgery to remove her ovaries and tubes and is also having a double mastectomy this month. (Stuart Johnson, KSL TV)

Jensen did test positive for the variant.

“It was a shock and scary and I immediately started to think about my kids and my grandkids,” she said. “I had a potentially 86 percent chance of getting breast cancer with this gene mutation.”

Next Steps

After getting her results back, Jensen chose to have prophylactic surgery.

“I had my ovaries and tubes removed in August,” she said.

Jensen is also having a double mastectomy this month.

“It’s not an easy decision, but I don’t want cancer,” she said. “When you know your risks are so high, to me that was just the right answer.”

Though she is nervous, she says the knowledge is empowering.

Jeff Fowler’s father is picture with his aunts and uncles. When Fowler was diagnosed with breast cancer this year and the BRCA2 gene mutation, he took a closer look at his family history. Four of his uncles died of prostate cancer and two of his aunts died from breast and ovarian cancer, cancers which are also caused as a result of the BRCA2 variant. (Used with permission: Jeff Fowler)

“It is a big step, but it’s also takes away my risks significantly,” she said. “It’s good to know because I have choices now. It’s not going to just surprise me.”

“By learning about these things, we hope that we can prevent certain health conditions that run through families,” Bonham explained. “We can be more proactive when you have a family history of a health condition.”

Jeff Fowler’s 38-year-old son, Chris Fowler, tested positive for the gene variant too. He has five boys of his own who also could be affected by the variant. He is now taking actionable steps early on to prevent cancer.

Jeff Fowler sits with his son, Chris Fowler, who also tested positive for the BRCA2 gene mutation. They are both taking great measures to change their diet with increased vegetable and fruits, healthy proteins and grains, and lots of water to prevent further cancer growth. (Stuart Johnson, KSL TV)

“There’s things that I can do, from my own standpoint, to provide best quality of life for myself and also to stay around and grow old with my boys,” he said. “I’m grateful for that technology, that science that exists to allow us to take charge of a little bit of our future at least.”

“It’s gonna give me opportunities to really be aware and take charge. It’s empowering,” he added.

Chris Fowler will start screening earlier and is adopting a healthier diet, like his dad.

Preventing Cancer

Jeff Fowler’s oncologist recommended that he start meeting with a dietician.

“She said the dietitian can do more for you with cancer than I can ever do for you,” Fowler recalls. “I had to give up sugar, had to give up my diet sodas, a lot of the carbs go away… I just can’t grab fast food or things that are unhealthy for me because they could also feed any cancer that could be there.”

He’s increased his vegetable and fruit intake, eats foods that are high protein, and drinks lots of water.

“All that is part of me taking proactive steps, because I already have the cancer, to then stack the deck to avoid any more complications and give myself the best chance,” Jeff Fowler explained.

Jeff Fowler and his wife are pictured with five of their grandsons. Their father, Chris Fowler, also tested positive for the BRCA2 gene mutation. They know this gene could also affect Chris’ sons and they are doing everything they can now to take proactive . steps to prevent cancer(Used with permission: Jeff Fowler)

“[There are] many ways that they can control those factors beyond their genetics, to hopefully not end up developing cancer,” Bonham said.

She says understanding genetic cause can also impact treatment.

“[It] can lead to a more targeted treatment, [or] another medication that may work better for that cancer,” she explained.

Jeff Folwer had a double mastectomy and reconstructive surgery, and will continue to monitor his health. Now he is on an estrogen blocking hormone for the next five to ten years.

He’s felt humbled throughout this whole experience and found himself turning to God.

“Now, I see things differently,” he said. “It’s brought a sense of gratitude to me.”

Fowler says being aware of his genes has given him the tools he needs to best care for his health.

“I think that knowing gives you the ability to find every resource, every technique, everything that you can do,” he said.

The Fowlers started a Facebook page to reach as many relatives as they can in hopes that cancer doesn’t have a chance. Between Jeff’s eight siblings, four children, and fourteen grandchildren, they know his diagnoses affects generations.

“It’s going to be hundreds of people, if even not more overtime,” he said. “I’ve decided I want to be around as long as I can, you know, and I want to enjoy life,” Jeff Fowler said.

The BRCA2 gene mutation also puts Jeff Fowler at an increased risk for prostate, pancreatic, and skin cancer.

HerediGene Population Study

Intermountain Healthcare has launched the largest DNA study in the country to help more families like the Fowlers. It’s called the HerediGene Population Study and is designed to understand new relationships between genetic changes and risk for certain health conditions.

Researchers are analyzing the genes of 500,000 people, with the goal of better predicting and preventing chronic disease like diabetes, cardiovascular disease, neuro-degenerative disorders, and cancer. They estimate two to three percent of participants will be notified about an immediate health concern and will have an opportunity to meet with a genetic counselor to make a plan.

Doctors believe the study will impact the health of generations to come. Anyone can participate for free through a simple blood draw, or for children under 18-years-old through a cheek swab, at any Intermountain Healthcare lab or call 1-833-698-1727. You can also register online here.

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Genetic testing impacts the decisions one Utah family is making after cancer diagnosis