CINCINNATI (WKRC) - It's one of the hottest holiday gifts, but a local woman has an important warning about what you do with information from at-home DNA testing kits.
There are lots of options now for home testing of your DNA, so when Rachel Rockwell wanted to find out about her family tree, she did some research and chose Ancestry's DNA testing kit.
"I found that there was one brand that had more testing done than anything else, and I figured that if more people did the test, then they must be more accurate. So that's why I went with Ancestry initially," Rockwell said.
Ancestry did provide Rockwell with what she wanted to know about her genealogy and her family tree, but as a company spokesperson confirmed in this statement:
AncestryDNA does not offer medical or diagnostic results for genetic mutations such as those associated with predisposition to breast cancer. We are the global leader in family history and consumer genomics. When our customers use AncestryDNA to make personal discoveries and connect to a deeper family story, they maintain full ownership and control of their own data, which includes being able to share it with third-party resources if they wish. Once a consumer shares their data outside of Ancestry, we can no longer protect their data nor assess what type or quality of information they may receive from other organizations that analyze their data.
And that was something Rockwell did want to know about. So she took her test information and sent it on to another company to try to find out more about her health risks.
"What Rachel did was she exported her raw DNA from a direct-to-consumer test, and that test was not designed to look at any health conditions at all," said Karen Huelsman, a licensed genetics counselor for TriHealth.
When Rockwell got that report back from a different third-party, direct-to-consumer site she said she was concerned because the test said she could have a gene that causes cancer. And not just any cancer: breast cancer.
So, Rockwell then took the next step suggested in the fine print of her third-party results.
"I took a moment. I calmed down, and I called my doctor and talked to her about it," Rockwell said.
Her healthcare provider then recommended full genetic testing with a qualified medical lab and a follow-up appointment with a geneticist.
"We had conversations about me having surgery, and we could have scheduled that very easily. I had the opportunity to schedule it, but it's a good thing that I didn't because my life would be completely different today had I acted out of fear rather than fact," Rockwell.
That's because by the time she did get results from the more complete genetic screening and consult with Huelsman a licensed genetic counselor, they found out Rockwell didn't have an inherited risk for breast cancer.
"[The variant identified] had an RS number-specific location BRCA2, and when I looked it up in the literature, it was a legitimate mutation in BRCA2 with a high cancer risk associated, but, in fact, when we did go ahead and do a comprehensive inherited breast cancer test, it was negative," Huelsman said.
So, how does that happen?
"They use data that's submitted publicly by many places, but it's not as carefully vetted as what you would see in a clinical lab," Huelsman said.
Rockwell feels this needs to be talked about more.
"These tests don't know you. They're not medical doctors. They are not your doctors," she said.
"The companies all say that these direct-to-consumer tests are not for clinical use. They're not for medical decision-making as Rachel said, but that's in the fine print and a lot of people don't read it or misunderstand, so I think it can lead to false-negatives and, in some cases, a false-positive, as in Rachel's case," Huelsman said.
There are several third-party sites that will take direct-to-consumer information online about your genetics and health. Most cost less than $10.