Grain of salt with DNA testing results

U.S. & World

When radiologist resident Dr. Joshua Clayton got his test results back from a popular DNA testing kit, he says didn’t think much of them, saying, “They were all negative and everything was fine.”

Until he got a kit for his dad.

Says Dr. Clayton, “I got one for him as a gift, he did some extra research and found this other service and for five bucks, that was interesting.”

For five extra bucks, a third party lab would run his raw data through a database of research to see if he had a gene variant linked to disease, and the result came back positive.

They told him he had a mutation linked to what’s called Lynch Syndrome, a genetic disorder that leads to potentially deadly cancers at an early age.

Clayton says, “It was scary to think I might have something I have to act on for the rest of my life. It prompts all these questions, like, ‘Do I have a low-level cancer now that I don’t know about?” I certainly would like to know more. I mean, at the time it was very scary.”

So in search of a Lynch Syndrome expert, he went to Doctor Theo Ross, Director of the Cancer Genetics program at UT Southwestern.

Dr. Ross says, “Normally when we get one of these tests, we take them and put them in the shredder and do a real test because we have yet to do a clinical test. that’s what we do.”

And the clinical test found Joshua did not have the potentially cancer-causing gene mutation that would have changed his life.

Clayton adds, “I was very relieved. Obviously, it means I don’t have to go through all those screenings and our plans to start a family didn’t have to potentially change.”

Ross cautions, “I think awareness of genetics is great, and those companies, all of them have done a very good job of advertising that genetics is important. It is not a health test. It is not gonna tell you your predisposition to diseases.”

Doctor Ross warns consumers don’t realize their results from popular DNA kits are not conclusive. She says you should take them with..

“More than a grain of salt,” according to Ross, “A bag of salt.”

And that holds true even more so for people who come back with perfect results.

Ross said, “98% of people who don’t have cancer, but have one of these mutations that should be followed, don’t know that.”

Joshua considers himself lucky.

“Get in the car, drive five minutes and I can get the definitive result, what about the people who live three hours from the nearest major medical center who don’t know who to contact,” says Clayton.

And he hopes sharing his story will somehow help others.

Ross suggested that if you’re truly curious about your genetic risk for disease, you should see a genetic counselor. 

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