A writer shared her story about getting frightening genetic results online. The response was surprising

Rebecca Robbins and Damian Garde and Adam Feuerstein

This is a lightly edited transcript from a recent episode of STAT’s biotech podcast, “The Readout LOUD.” Like it? Consider subscribing to hear every episode.

Over the past decade, more than 25 million people have ordered at-home DNA testing kits from companies like 23andMe and Ancestry.com. You spit in a tube, send it away, and get notified by email when your results are ready. Initially aimed at providing information about ancestry, some companies now test for certain genetic mutations that are strongly correlated with the risk of developing cancer, Alzheimer’s disease, or other serious conditions.

Dorothy Pomerantz is one of those 25 million people. Last year, almost on a lark, she bought a 23andMe test and sent her spit to Silicon Valley. But what she learned went far beyond the lighthearted stuff advertised on TV, like connecting with long-lost family members. She wrote about that experience for STAT’s First Opinion, and spoke with STAT about the reaction to it.

You got an email from 23andMe saying your genetic results were ready. What happened when you clicked through to the company’s website?

The company considers these results to be sensitive because they can be very, very serious. So when I clicked the link in the email, it took me to a tutorial that tried to explain what I was going to see and the ramifications of what I was going to see. But I think like most people, I did not expect bad news so I just sort of clicked through it. And when I got to the other end of the tutorial it showed that I had the BRCA1 mutation.

That mutation significantly elevates the risk for breast and ovarian cancer. So after you learned that status, you went to a doctor to confirm the results. What was different between reading about your status online versus discussing it with a live genetic counselor?

The contrast was pretty stark. When I received the information online, I had just been working out and was sort of running around the house doing kid stuff and work and all of that. I sort of blithely opened the email and got this really terrifying news. When I went to my doctor, they immediately had me do a second test with a different company and I sat with a genetic counselor. She calmly explained to me the ramifications of the information I might learn and let me ask her questions, which was very important. Then when the results came in, she actually said to me, I won’t email you the results and I won’t tell you them over the phone. You have to come in.

Since I was actually going to be in Italy when she was going to get the results, I said to her that I can’t know the results are there and not know what they are. So I said to her, please do it over the phone, and she agreed to do that after a lot of hesitation.

So she called me while I was on my vacation, and she told me that in fact the news that I gotten from 23andMe me was accurate and that I did have the BRCA1 mutation. While we were on the phone, she took the time to say, “What do you need right now? Do you need information? Do you need to go and cry?” And just dealing with a human being in that moment was really a very different experience.

I still felt scared, of course, like really scared, but I didn’t feel like I was alone. I didn’t feel like I had just sort of fallen into a pit and didn’t know how to get out. I knew there was somebody there with me who was going to help me through this.

That confirmation sent you down the path of preventive surgery. You wrote that despite the trauma of learning this information online, if not for the 23andMe tests you might not have learned about your BRCA1 status until you had actually developed cancer.

Yeah, that’s 100% true. The vast majority of people who get tested for the BRCA mutation have a history of breast cancer in their family. Most people I know who have been tested for it, their mother had cancer, their grandmother, all their aunts, everybody had cancer. That was not the case with me. My aunt had died of cancer, but it was a rare occurrence in my family. I was really grateful that I found out before I got cancer.

Read more: 23andMe had devastating news about my health. I wish a person had delivered it

I mean it’s not a 100% chance that I would have gotten cancer, of course. You’re sort of playing the odds when you’re talking about genetic testing, but the odds were really bad. So the fact that I could take action — even though it was a lot — and it’s kind of traumatic to have that much surgery, I still consider myself incredibly lucky. I’m really grateful every day that I found this out. I was able to take action and I’m healthy and this is off my plate.

What was the response to your story?

The response has been has been overall really positive. I think the ratio of people calling me brave to people calling me a bitch is pretty high. But there are some people out there who have been really weirdly angry and negative towards me about the story, which I kind of don’t understand. A lot of people have said that I’m ungrateful and called me some nasty things. But maybe that’s just what happens whenever you put yourself out there on the internet, like you can’t do that without people saying some mean things. But I think overall people have been very supportive and have said that it actually made them think more about getting genetic testing and made them want to do it.

Read more: Top U.S. medical centers roll out DNA sequencing clinics for healthy (and often wealthy) clients

When friends and family now ask you about potentially getting at home DNA tests of their own, what do you advise them?

I have sort of said to them, just make sure you do it in a way that you’re getting really good genetic testing. Because the other thing about 23andMe, especially with the BRCA mutations, is that it only tests for three variants, which of course I didn’t know when I did the testing. So as sort of scary as it was to get the results I did it’s actually potentially even scarier to get a clean bill of health from doing that test because there are thousands of mutations. It’s really scary to find these hidden time bombs in your genes.

But I now sort of feel like knowledge is power. I’m really glad I know. I say to people, “You know, I’m glad I did it and I think it’s worth doing. And if you’re going to do it, do it with a doctor.” But I also completely 100% respect that it’s an individual choice and there’s lots of people who just don’t want to know this information and that’s OK.

STAT reached out to 23andMe for comment on Dorothy’s story. The statement the company sent reads in part:

“Our biggest takeaway from Dorothy’s recent op-ed piece is relief that she learned potentially lifesaving information. It takes courage and strength to share such a personal story on a public forum, and we hope Dorothy’s experience inspires others to be proactive about their health.” The statement went on to say that “customer results are carefully designed to ensure that customers first fully consider whether or not they want to view their results.”