The Chip: Pursuit of DNA leads to life-saving discovery

Sanford Imagenetics helped a patient find a cancer risk that runs in the family

Sanford Health geneticist talks in a white coat with blue sculpture in background.

It’s Lynette Nelson’s family history that motivated her to pursue genetic testing.

One option for that at Sanford Health is “the Chip.”  In this case, her awareness of that history is now benefiting her family’s future.

Nelson survived her own battle with cancer but two of her sisters did not. It got her to wondering if within her family there was a factor involved that made them more susceptible to this disease.

She saw an ad for the Sanford Chip for $49 and decided genetic testing was worth investigating.

“I think it was just meant to be,” the Volga, South Dakota, resident said. “I was thinking ‘Well, maybe there is something to this.’”

She did indeed discover there was something to this. Via the Sanford Chip, she learned she had something known as Li-Fraumeni syndrome. It is a rare condition caused by a genetic mutation that makes cancer far more likely.

The Chip is a blood test that examines your DNA and may help doctors find the right dose for a medication. It is also possible for the test to identify a predisposition for certain diseases. In this case that gave Nelson invaluable insight into her circumstances.

Chip delivers good fortune

“I’m just very lucky that I did what I did,” Nelson said. “I wish I could have done it sooner — maybe it would have helped my sisters — but who knows? Anyway, I’m glad I did it.”

Nelson then sent out a letter provided to her by Dr. Hajek’s staff that notified family that it’s possible they had the same genetic mutation with the same potential consequences. At first Nelson felt bad that she was placing this burden on relatives. In her words “it felt like I was opening a can of worms.”

That was before she saw evidence of the great favor she’d done for some members of her family.

“There is a genetic condition called Li-Fraumeni that is contributing to the cancer risk in that family,” said Dr. Cassie Hajek, an internist and specialist in genetic medicine for Sanford Health. “It allows us to say, ‘We now know why you have those cancers.’ But it also helps with her family. This is a condition that she has a 50-50 chance of passing on to her children.”

It is a condition that in some cases can lead to a near-100% lifetime risk of cancer, Dr. Hajek said. Thus informed, Sanford Health can offer surveillance and screening to identify a cancer earlier.

“It is a powerful piece of information to use to help care for our patients,” Dr. Hajek said. “They found significant benefit from this. Identifying it for this family was a big deal.”

Nelson discovered that both her daughters have the genetic change, as does her surviving younger sister. One of that sister’s two kids also has the genetic change.

Timely discovery

His name is Kyle Youngs. He is 36 years old, he’s married, as luck would have it, to a geneticist. He took the test and discovered he had the genetic change.

That led to an full-body MRI that revealed he had early-stage thyroid cancer. Significantly in this case, it was detected well before it likely would have been discovered clinically.

“It’s was huge,” Dr. Hajek said. “It’s hard to say when that cancer would have been identified but to get before it spread and got more aggressive — all those things are impactful for his overall health.”

Life is different now for Nelson. She has a full-body MRI every year. She has a brain MRI once a year, and every six months she has breast cancer screening. It creates inconvenience,  but it’s well worth the trip.

“Instead of waiting until you’ve got stage 4, you might be able to catch it in stage 1,” Nelson said. “I feel comfortable that I don’t have to have stage 3 cancer next time. It’s never going to get to that point, I’m going to find out about it before then.”

Ultimately, the Chip has provided her information she can use. That goes for those providing her health care as well.

“It really provides a lot of power,” Dr. Hajek said. “Not only to the patient in knowing there is that risk, but for the health care team to help manage that risk.”

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Posted In Cancer, Cancer Screenings, Genetics

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