DNA kits were most likely one of the hottest gifts this Christmas season.
Many people go one step further and send the raw data from their kit results to a third party label that offers to reveal even more about your genetic risks for certain diseases.
For a few extra bucks, one Texas man sent off his data and the results he got back, weren’t only scary, they were wrong.
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.
“They were all negative and everything was fine,” Clayton said.
Until he got a kit for his dad.
“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,” Clayton said.
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.
“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,” Clayton said.
So in search of a Lynch Syndrome expert, he went to Doctor Theo Ross, Director of the Cancer Genetics Program at UT Southwestern.
“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,” Dr. Ross said.
And the clinical test found Joshua did not have the potentially cancer-causing gene mutation that would have changed his life.
“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,” Clayton said.
“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,” Dr. Ross said.
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, a bag of salt.”
And that holds true even more so for people who come back with perfect results.
“Ninety-eight percent of people who don’t have cancer, but have one of these mutations that should be followed, don’t know that,” Dr. Ross said.
Clayton 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,” Clayton said.
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.