DNA ancestry tests can raise medical questions

Understanding how to interpret DNA findings
Posted at 2:51 PM, Jun 18, 2018

DNA tests are becoming very popular; if you haven't taken a test yet, odds are someone you know has.

There is a lot more data you're receiving from tests than most people know. They often contain your raw DNA data. It's a complete break down of your DNA and can be a tool for learning more about potential health risks. It can also be wrong.

That data is yours and you can download it from most DNA testing sites after the tests have been completed.

Wife and mom Alicia Farina was curious about her RAW DNA. After taking a genetic DNA test she and her friend wanted to dig deeper.

"So I took the test through Ancestry DNA. We took our raw DNA from ancestry and then we uploaded it to Promethease," she said.

Promethease is just one of a handful of companies that allow you to dig deeper into your DNA profile. In Farina's case the test came back with some concerning news. 

"I possibly have genetic markers for breast cancer," she said.

Farina had a family to support so she decided not to worry, although the "what if" was on her mind.

"I know that my mom's side of the family have had hysterectomy and my father's mom had ovarian cancer," she said.

Her doctor suggested she visit an expert in DNA tests a genetic counselor.

That's where Erica Ramos, head of the National Society of Genetic Counselors, comes in. Having your raw DNA analyzed might sound great but he says it's not a perfect science and no one claims it is.

"Ancestry is one of those areas that's really hot right now and really popular and so many people really want to kind of dig into that information.  When you have raw data, the companies are really providing you with just the basic information that they had. And there's no guarantees of accuracy and the companies are very straightforward that every piece of information that they give you was not checked for quality, was not checked for accuracy," said Ramos.

Farina's genetic counselor suggested medical tests ones specifically created to search for genetic concerns.

"If you find something that you're concerned about, that absolutely needs to be double checked in a clinical lab," said Ramos.

Turns out, Farina doesn't have a genetic predisposition to cancer.

"The test went out and came back that it was a false positive," she said.

She says she's an example of why caution with all of this is needed.

"So I could still develop concern down the road but it wouldn't be because it was genetic," she said.

The bottom line here, DNA ancestry companies are  experts in your ancestry. Their tests aren't designed for everything else. They'll give you the rest of your DNA profile, because it's yours, but you have to take it with a grain of salt.

Only one company, 23 and me, is FDA approved to evaluate DNA for future health concerns and what they look for is only a few generic conditions.