University of Iowa expert warns of pitfalls to giving DNA tests as holiday gifts

IOWA CITY — With genetics companies enticing holiday shoppers to surprise loved ones with “the gift that brings families together,” University of Iowa experts are warning that DNA tests sometimes can do the opposite — and shoppers should be aware of unintended consequences from such gifts.

“Some people don't fully know what all information you can get from this,” UI Health Care genetic counselor Athena Puski said. “There are lots of things to just be aware of.”

Not only can consumer-marketed genetics-tests offer insight into ancestors, migration and ethnicity — a big attraction for families trying to trace their roots — they also can reveal jarring health care information about predispositions for cancer, heart disease, diabetes, Alzheimer’s disease and other medical conditions.

News of higher odds for cancer or Alzheimer’s can be heavy and hard to navigate, leaving recipients of the gifts with questions about what to do with the information — if anything.

“Genetic testing is not right for everyone,” said Puski, who has counseled many through weighty decisions. “Counselors have special training that allows us to help patients decide whether genetic testing is right for them, choose which risk factors and conditions to test for, and counsel them on the results of the testing and what it specifically means for them and their family.”

Plus, DNA tests can make for awkward holiday conversations.

“They can provide links to family members,” Puski said. “So there could be surprises in finding out about family members you may not know, that your father is not your father. Those types of things can come from these tests as well.”

Still, she said, DNA tests like those offered by Ancestry.com, 23andME, and CRI Genetics have become increasingly popular holiday gifts. All three of those companies, for example, are promoting holiday sales on their websites.

“Give the most meaningful gift of the season,” reads a message on 23andMe.com, under a promotion for half off two $99 “ancestry and traits” kits. Much of the information offered under the “traits” umbrella can be viewed as fun or fascinating — like seeing confirmation of a gene for your dimples, for example.

The traits feature also can reveal genes affirming a person’s fear of heights, ability to sing on pitch, aversion to cilantro or ice cream flavor preference. But health upgrades — doubling the price to $199 — get more serious, revealing predispositions for high blood pressure, diabetes, kidney disease and certain cancers.

“How I usually think of these direct-to-consumer tests is that they can be fun,” Puski said. “You get interesting information. It can be a fun activity for the family, if they want to learn about ancestry.

“But take health information with a grain of salt,” she said. “And don't use it for your actual health management.”

'A very large book’

Of course, genetic counseling can be highly beneficial to a person’s health care — and even lifesaving. But Puski advises those who’ve made the thoughtful decision to pursue it should go through a health care provider to have it done.

“If you have an actual health question, talk to a health care provider so they can get the most comprehensive and appropriate test for it,” she said.

Explaining the difference between consumer kits and genetic testing in a health care setting, Puski used the analogy of a book.

“We have 20,000-some genes, and each gene is like a very large book or instruction manual that provides some sort of instruction for our bodies — such as our hair color, eye color, making sure our heart works properly, protection from cancer,” she said. “Each one is its own instruction manual, and if there is a mistake or mutation anywhere within one of those instruction manuals, it can cause a problem.”

For example, about eight genes can affect a person’s breast cancer odds, Puski said. And a mistake within any can heighten the risk.

“So when we do a clinical-grade test, we're looking at all eight of those genes, and we are looking through pretty much every single page of that book for any kind of mistake,” she said. “With the direct-to-consumer test, they look at three letters in two of those books. So they're missing six other genes and really hundreds of thousands of mutations that can occur within even the two genes they do look at.”

That means, according to Puski, “over-the-counter” DNA tests can produce false or misleading information for consumers.

'A big, big weight off’

Four years ago, at age 43, Shannon Hunger of Iowa City began down her path of DNA testing and the life-changing repercussions it would set off.

“It took me probably five years to decide if I wanted to do it,” Hunger told The Gazette. “And then, once you do it, it’s a huge decision what you do with the information.”

Hunger, who has been a nurse for 26 years and at the UI Hospitals and Clinics for 19 years, lost her mother to breast cancer when she was 11.

“My mom was diagnosed when I was 3,” Hunger said. “I’m the youngest, so I went to a lot of her appointments with her. So it was totally a part of my life.”

In the years since, her older sister has been diagnosed with breast cancer three times, her older brother died of brain cancer, and she has a maternal cousin who’s had breast cancer.

Hunger said she found herself going in for mammograms, MRIs or ultrasounds every six months, and “every time there was just a little something that didn’t look quite right.”

A legislative act banning discrimination against genetically flagged health predispositions gave Hunger the comfort she needed to finally go ahead with cancer-specific DNA testing in 2017. Calculated two different ways, it revealed she had a 54- or 58-percent chance of contracting cancer in her lifetime.

Hunger initially thought a 50-50 chance was pretty good, until asking her genetic counselor about the average person’s odds.

“And she said 11 percent,” Hunger said. “And that changed everything for me.”

After thinking over her next steps, and talking to her husband and family, Hunger said she decided, “I’m going to do all I can to live.”

In November 2017, Hunger had a double mastectomy, which she paired with reconstructive surgery. And a short time later, while recovering, Hunger received a phone call from the surgeon.

“She said, ‘Are you alone?’ And I said, ‘No, I'm actually getting my hair done,’” Hunger recalled. “And she said, ‘We got the pathology report back and you actually have ductal carcinoma.’”

The only treatment for that type of breast cancer diagnosis, the surgeon told her, was the procedure she just undergone.

“She said, ‘You don't need to do anything else,’” Hunger said, noting, “All that stemmed from that genetic counseling appointment.”

Choosing to get the testing and follow through with the surgery was not only a literal live-safer, but an instant relief, Hunger said.

“I didn't even know how much it was weighing on me,” she said. “I didn't realize that I was thinking about it every single day until I didn't have to worry about it. It was a huge relief. It was just was a big, big weight off that I didn't even know that I was carrying.”

Although Hunger praises genetic testing and the impact it’s had on her life, she acknowledges the deeply personal decision to access the information, noting her sons so far haven’t shown much interest in finding out their risk.

One of her sister’s has — and is waiting on results, having taken the test just a week ago. And while Hunger said she’s been willing to talk with others considering testing and share her experience, she never pushes them to take the leap.

“It’s a hugely personal decision,” she said.

Comments: (319) 339-3158; vanessa.miller@thegazette.com