At-home genetic test leads to breast cancer diagnosis

Posted at 11:30 PM, Jul 12, 2017
and last updated 2017-07-13 12:24:23-04

Lara Diamond spit in a tube then put it in the mail. She was expecting to find distant relatives, instead she received a diagnosis.

“They told me that I had this BRCA2 mutation, which was a complete shock to me, and I was able to follow-up with my doctor and genetic counselor from that point,” said Diamond, a genealogist and author of the blog “Lara’s Jewnealogy.”

BRCA genes have been linked to breast and ovarian cancer. Diamond had no knowledge of any family history of either disease.

“I was sent for my first ever mammogram, which was clear, and only because I had a BRCA mutation I was sent for an MRI and that wasn't clear. So, they did a biopsy and it turned out I already had cancer,” Diamond said.

Diamond was diagnosed with stage I breast cancer.

“There were no symptoms. I mean I wouldn't have gotten screened for years. The fact that a mammogram couldn't see it, ultrasound couldn't see it, it would've been a couple more years until there were any symptoms that would've made us question anything,” said Diamond.

Thanks to the early notice, doctors were able to remove the 6 mm tumor.

And while the test enabled Diamond to be proactive about her health, it's very rare for someone to have a similar experience. In fact, the FDA put an end to 23andMe BRCA testing back in 2013 because of risks associated with false positive findings.

“The majority of people who come in with reports from direct-to-consumer companies are misinterpreting it to either mean they either have some sort of rare condition or they might be at risk for something, and in reality that's not what's going on,” said Natalie Beck, a certified genetic counselor at the Johns Hopkins Institute of Genetic Medicine.

Beck said it’s a good thing that they’ve been seeing an increase in appointment requests from people ordering direct-to-consumer tests, however, the National Society of Genetic Counselors suggests that consumers proceed with caution. They recommend consumers consider seeing a genetic counselor to help them determine why they want to get tested and help interpret their results.

“It's not as simple as one single variant or one single gene and giving people an absolute increase or decrease risk for their health. And that challenge of patients trying to interpret their own genetic test results I think can lead to a lot of false anxiety or maybe even false reassurance,” Beck said.

The tests, however, are inspiring intrigue as well as a desire to learn more about personal health and the people you're connected with.

“They want a crystal ball for their health care, and so I think that's adding to people's desire to know more,” Beck said.

Diamond credits her “genealogy addiction” with potentially saving her life.

“Yes, I'm very glad that I'm obsessed with genealogy, because my life would be very different in many ways otherwise,” said Diamond.

Diamond has tried three different direct-to-consumer tests. 23andMe was the only one with a medical component, however, there are more tests that now offer health screenings. The FDA also recently granted approval to 23andMe to test for gene sequences linked to 10 health risks including Parkinson’s disease and late onset Alzheimer’s.

If you have any family history of disease, it's advised that you meet first with a genetic counselor and not rely on any direct-to-consumer tests.

The cost of direct-to-consumer tests vary from around $100 to nearly $1,000.

Editor's Note: This story has been updated to reflect the National Society of Genetic Counselors' position on direct-to-consumer tests.