Last summer, I thought it might be fun to have my DNA analyzed. Two companies, 23andMe and Ancestry.com, had popped up again and again in my social feeds, so I decided to join the party and see if I could blame my penchant for salty food on my genes. And as a journalist, I was just naturally curious.

So like 26 million other people, I ordered a testing kit online, spat into a tube, and sent my saliva off to Silicon Valley. Any concerns I had were around privacy. I checked all of the boxes to keep my results as secret as possible and went back to my normal life.

Privacy, it turned out, was the least of my worries.

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I had just gotten home from the gym when I opened the email from 23andMe, saying a report was ready for me to read. That click changed my life forever: To my utter shock, the results showed that I have a mutation in a gene called BRCA1, which puts me at a huge risk of developing breast and ovarian cancer. I broke into tears.

At first, I didn’t believe what I was seeing. My father’s sister died of breast cancer when she was 37, but her mother (my grandmother) and her sisters all lived long healthy lives. My aunt’s death was always talked about as an unforeseeable tragedy, not a family legacy. I knew that being an Ashkenazi Jew (100%, according to 23andMe) put me at a higher risk of BRCA but at 1 in 40 that’s still only 2.5% of my tribe.

I immediately turned to Google. I learned that 72% of women with a BRCA1 mutation develop breast cancer and 44% end up with ovarian cancer. Some get both. In the rest of the population, a woman’s lifetime chance of developing breast cancer is about 12% and her chance of getting ovarian cancer is 1.3%. A BRCA1 mutation is a deeply terrifying diagnosis.

After 20 minutes of Googling, I felt like I couldn’t breathe anymore. My husband wisely suggested I step away from the computer and call my gynecologist. I was sure she’d say something comforting about how the odds were bad but I, personally, wasn’t going to get cancer. Instead, she sent me to a breast doctor at Cedars-Sinai in Los Angeles.

Breaking bad news

I’m not the first person to get surprising and terrible news from an at-home genetic testing company. With the increasing popularity of 23andMe, and other companies like it, I won’t be the last.

23andMe started offering screening for BRCA1 and BRCA2 mutations in March of 2018, three months before I took my test. I opted into the health screening portion of the report because I figured if I was taking the test, I might as well get as much information as possible. And in the back of my mind I figured it would show that I wasn’t at risk of some of the terrible diseases on the health list. Not only was I wrong, but I got the news in the worst way possible: online.

There will be countless other women who, like me, are going to find out about their increased risk of breast cancer through an online report as opposed to sitting with a genetic counselor, which is how people find out when they do genetic testing through a health care professional. 23andMe replaces that one-on-one conversation with a digital tutorial that every user must go through before she or he can view results for any of the reports the company deems sensitive (such as tests for BRCA or Parkinson’s disease).

I hate to admit it, but I clicked through that tutorial without paying it too much attention.

“We recognize that people will have different responses to the information presented,” says Altovise Ewing, who works at 23andMe as a medical science liaison. “We always encourage customers to have the results confirmed in a clinical setting where they can engage in conversation with a health care provider.”

So that’s exactly what I did.

At Cedars-Sinai, my doctor said I shouldn’t make any decisions based on the 23andMe test. While the company says its reports are 99% accurate, most doctors want confirmation from a second source. So she introduced me to a genetic counselor who had me redo the test through a hospital-approved lab. I felt temporarily comforted, and hoped that the new results would prove 23andMe wrong. But a few weeks later, I got a call from my genetic counselor. She confirmed the mutation.

I was devastated. But the way I felt was totally different from the way I felt after opening the report from 23andMe. Talking to someone about the results versus reading them in an online report — even after wading through a long tutorial — was the difference between day and night. My counselor was sympathetic and knowledgeable. After she told me the results, she asked me what I needed in that moment. Did I need more information? Time to be alone, or to cry?

Since I had already read so much, I really just needed her to confirm that I was truly at a very high risk of cancer, that I was lucky to have discovered this before getting sick, and that whatever I decided next, it would be all right. She left me feeling that while I had a difficult road ahead, I was going to get through this.

Here’s what I learned over the course of two months while I figured out my options: Because there are still no good tests for ovarian cancer, doctors highly recommend that women with BRCA mutations have their ovaries removed. When it comes to breasts, there are two main options: high-risk monitoring or surgery. High-risk monitoring means undergoing a mammogram and a breast MRI every year, six months apart. Doctors are on alert for any signs of a tumor which, to my mind, meant a future of constant worry with lots of biopsies until, inevitably, a cancer diagnosis.

The other option is surgery, which can feel extreme. It meant having my breasts removed — a process that Angelina Jolie famously opted for and would later describe as an almost magical experience, describing some of the grislier details as feeling like a “scene out of a science fiction film.” But I had to face the cold realities: a life of worry, or going under the knife.

I thought a lot about my decision, but at the end of the day, I knew what was best for me. I had health care, I had access to some of the best doctors in the world, I was done having children and, at age 47, I was young enough to recover well from the surgeries. I’m a worrier by nature and the thought of living a day longer than I had to with what felt like death tapping me on the shoulder was horrific. After I got confirmation of my mutation, I told my doctors I wanted to have the necessary surgeries as quickly as possible, opting for a mastectomy with implant reconstruction.

I’d be lying if I said the process wasn’t terrifying. I went into pre-op for my ovarian surgery at the end of September of last year. To better prepare myself for my mastectomy, I started seeing a therapist and spent weeks doing self-hypnosis. The surgery went well, and it took a month before I was ready to go back to work, aided by carefully managed opioids. During that time, my family, co-workers, and friends rallied to support me and make sure I had the space to rest and heal. Seven months later, I went in for what I hope will be the last surgery: the reconstruction.

Home testing: a parlor game?

On every step of this journey, I was aware of one glaring fact: All of this would have been infinitely more difficult if I had to do it while also fighting cancer.

23andMe says its mission is to empower users with information, and I did feel empowered. If I hadn’t taken the at-home test, I likely would not have seen a doctor and a genetic counselor and had my genes tested. And instead of being able to take preventive action, I would probably have ended up undergoing the same surgeries but with the added complications that come with chemotherapy. In that sense, I am infinitely thankful that at-home genetics tests are cheap and available to people like me.

But with the growth of DNA testing, it can feel like we’re treating serious medical diagnoses as a parlor game, and that’s frightening. As scary as it is to get the news that you have a mutation, getting a clean bill of health from 23andMe could potentially be worse. While the company is quite clear that it tests for only three variants in the BRCA1 and BRCA2 genes, it points out that there are more than 1,000 variants in these genes that can elevate individuals’ cancer risks. In other words, a report from 23andMe showing that you don’t have a BRCA mutation doesn’t necessarily mean you’re in the clear.

“That’s where I see potential downfall,” says John E. Lee, program manager at the Genetic Counseling Clinic at Cedars-Sinai. “For the three variants they test for, they’re very accurate, but they’re not looking at the rest of the genes” that can lead to breast or ovarian cancer.

Lee says that finding a predisposition to a disease like breast cancer is much more complicated than essentially spell checking three pages in a 1,000-page book. Someone who comes from a line of women with breast cancer but who 23andMe shows does not have a BRCA mutation still needs further testing. In addition, the variants that 23andMe tests for are found almost exclusively in the Ashkenazi Jewish population. People outside of that group who test themselves for a BRCA mutation through 23andMe are unlikely to be told they have a dangerous mutation in the gene— but could still harbor one.

Then there’s the very real problem of cost. Someone without health care might not be able to get a second genetic test to confirm the results. I was very lucky that my insurance covered my expensive surgeries. Without insurance, a woman wouldn’t have the option of high-risk testing or surgery. She would have to just live with the knowledge of her risk and her inability to act on it.

While I understand it’s unreasonable to expect 23andMe to have counselors on hand to talk customers through difficult results, it’s hard not to wish that option had been available to me and other people who get bad news.

Overall, I believe that the growth in genetic testing is a good thing. It’s encouraging people to know more about their own DNA and it shows that people want to be proactive about their health. But there needs to be better work setting expectations.

“If people are going into this thinking they’re going to learn all about their health, we’re not there yet,” says Lee. “Right now these tests are limited.”

While 23andMe doesn’t give out numbers on how many people are finding out they are at a high risk of cancer despite no family history, Ewing pointed out to me that 50% of women who have a BRCA mutation have no family history of breast or ovarian cancer that would normally trigger genetic testing. It’s a strong argument for cheap genetic testing to exist.

As 23andMe earns FDA approval for more tests (and sends those results to me), I’ll continue to look at my results and assess my risks because, unlike many other people, I now have a genetic counselor on my side who I can turn to with any worrisome indications. As much as I would have liked to have gotten my initial results in a medical setting, I feel like I’m better armed to deal with genetic information now that I’ve been through it once.

I believe that knowledge is power and I’m glad I can read the story my genes have to tell. I just wish that everyone could have an interpreter when the story turns dark.

Dorothy Pomerantz, the former L.A. bureau chief for Forbes, is now managing editor at FitchInk, a boutique content firm.

Editor’s note: The article and headline were updated to clarify how the author learned the results of her genetic test.

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  • I took 23andme test too. I was shocked at how many things I do not carry. Obviously I was super happy. I don’t carry the breast Cancer genes but my grandma had it 2x and died of lung cancer. So even though you have it doesn’t mean u will get it. We need to be aware but live as well…

  • Two years ago I did DNA testing and learned things about my life and health that I could never have known without it. If I had known them years earlier, it would have been so helpful to me and my doctor. Family members are poor historians either out of ignorance or shame, I am grateful for the technology. I used multiple DNA sites and all of them warned me that I may learn things I did not expect. For me it was worth the risk. It isn’t a one size fits all technology for sure. Not knowing my health issue put me at extreme risk and I am also grateful I had a doctor who recognized the issue and fixed it before it took my life. It wasn’t cancer but it was very serious.

  • I personally prefer to receive this news in total private without another person involved until I am ready to talk to someone. So online results work well for me.

    If you had received an email saying that your results could contain difficult news and you could elect to click to see immediately or wait for a human to call you and pay an extra $ for their consultation, which would you have chosen? Would you really have had the patience to wait?

  • At some stage, those who are “worriers” and people with “resiliency” and “gratitude” may turn out to have a genetic predisposition. Clearly this person lacks the gratitude gene. Instead of being so grateful to live in an era where online and affordable genetic testing is available, she chooses…to complain. Deeply unfortunate. Godspeed.

    • Perhaps there will turn out to be an ignoring gene, which would explain how you missed this statement in the article: “…I am infinitely thankful that at-home genetics tests are cheap and available to people like me.”

      And I wonder when scientists will identify the mutations responsible for the gobsmacking insensitivity behind the suggestion that a woman who just had to have her breasts and ovaries surgically removed isn’t grateful enough.

    • I believe the story conveys the depth of my gratitude that I discovered the issue when I did. I am not complaining. I am talking about my journey and my experience and I think hearing from patients can be incredibly valuable to these companies that are offering at-home DNA tests.

      “On every step of this journey, I was aware of one glaring fact: All of this would have been infinitely more difficult if I had to do it while also fighting cancer.

      23andMe says its mission is to empower users with information, and I did feel empowered. If I hadn’t taken the at-home test, I likely would not have seen a doctor and a genetic counselor and had my genes tested. And instead of being able to take preventive action, I would probably have ended up undergoing the same surgeries but with the added complications that come with chemotherapy. In that sense, I am infinitely thankful that at-home genetics tests are cheap and available to people like me.”

    • @ Dorothy
      I’ve been covering cancer research for more than a decade, and I can assure you that this article describing your experiences with at-home genetic testing is extremely valuable for people in the field. I know quite a few scientists who have been trying to figure out how to optimize the genetic testing experience for patients. If you haven’t already, please check out the BFOR study: http://www.bforstudy.com

      It’s trying to exploring some of the very issues you raised in your article. If you have relatives who haven’t yet been tested, they could get it done for free and have genetic counseling available to them through this study.

      Thank you for sharing such a personal and traumatic experience. Despite the haters in the peanut gallery, I’m sure many readers will benefit from the lessons you learned. I hope the steps you’ve taken to protect yourself will keep you cancer-free.

  • First, it is difficult to get such news. It’s not 23&me’s issue however because it sounds like they were pretty upfront with what you may learn. It’s curious to me that you what? want to stop 23&me from sending people results in an fully disclosed email, like they are to blame for your emotional turmoil about the revealed information? I too am Curious that with your particular markers you declined to inquire about what the meaning those markers can have for you? Are you someone who expects others to step in for you, protect you and keep bad news or such from you? While getting such news or even worse news can be and is jolting, perhaps terrifying, the silver lining is you are now better informed about yourself, though my suggestion is to start seeing a therapist to understand what sounds like denial and kind of blythe spirit outlook. Not advocating darkness, worst case scenarios either just an informed medium. I get that with your particular markers it may be scary to contemplate cancer but on the other hand you now have empowerment through knowledge and information. Suggestion: keep a check on your reluctance to face things and get a new, up to date, informed, seasoned and able gyno. Whoever you have is either an insurance drone or checked out not to even talk to you about your choices to learn more about your markers. I hope you are allowing yourself to take charge and learn. You deserve it(:.

    • I read this article more as a cautionary tale. She went into genetic testing without really thinking it through. She wants to make sure others don’t make the same mistake–that they realize they might learn something serious they didn’t expect. Also, I don’t think she’s alone in wanting to get bad news from a human rather than a webpage. But because she never even considered the possibility that the testing would turn something like this up, she also never thought about how she would want to receive this information. Bottom line: I don’t think she’s advocating that 23andMe testing be outlawed or anything. She’s just telling her own story.

      I agree it’s disappointing that her doctors never even raised the possibility that she might carry BRCA mutations. Basically, anyone with substantial Ashkenazi Jewish ancestry should consider getting tested. But my own husband, who is 99 percent Ashkenazi Jewish, had no idea that men with BRCA mutations are at increased risk of prostate and pancreatic cancer, and none of his doctors at some of the best hospitals in Boston ever brought it up with him. Not even once. *I* had to tell him that he should get tested. And he’s a very well educated man. My sense is that the entire medical field is playing catch-up with genetic testing for cancer predispositions.

      To me, the moral of this story is that those of us who work in the cancer field need to work harder to get the word out about these types of things.

    • I find this article a bit disturbing. I have stage 4 cancer. My mammogram and ultrasound missed my massive tumor, my mri found it. I finally had the braca testing and found I have a braca 2 mutation but my doctor told me she didn’t know what that meant. When I went to CTCA they told me it was the cousin of braca 1 and they guaranteed my mom had the same mutation.
      I do not understand having surgery to prevent something you do not have nor do you know you will ever get, doing it because a celebrity made it popular. They have confirmed that the reconstructive surgery if not a great choice either. I try to read everything I can find on cancer and treatments to try to stay educated, but with everyone being different with their dna makeup and the health care system treating each patient as if there disease is universal it is difficult to find your way through all the information. If you notice the disclaimer on the beginning of the website says that the FDA will not allow 23 and me to diagnose disease.
      No more surgeries for me, after I had my ovaries out the doctor told me that he has seen less than 2% of people develop ovarian cancer that have breast cancer and that I should not have had the last two surgeries that i had. Every time they do surgery my cancer spreads more easily and the doctor confirmed that everytime they open you up it spreads.
      All you can do is what you think is right for you, but with celebrities making surgeries popular and places like 23 and me giving out diagnoses for people to opt for surgeries for potential diseases, we are no closer to getting better cancer treatment

    • @sandy zehner
      The author didn’t have surgery “because a celebrity made it popular.” She did it because women carrying a BRCA1 or BRCA2 mutation have an extremely high risk of developing breast and/or ovarian cancer, and surgery to remove the breasts and ovaries can greatly reduce that risk. According to the National Cancer Institute, “Bilateral prophylactic mastectomy has been shown to reduce the risk of breast cancer by at least 95 percent in women who have a deleterious (disease-causing) mutation in the BRCA1 gene or the BRCA2 gene…Bilateral prophylactic salpingo-oophorectomy has been shown to reduce the risk of ovarian cancer by approximately 90 percent and the risk of breast cancer by approximately 50 percent in women at very high risk of developing these diseases.”

      You can read the full fact sheet here:
      https://www.cancer.gov/types/breast/risk-reducing-surgery-fact-sheet

      Your doctor is sadly misinformed. The facts, as established by large scientific studies that have been published in peer-reviewed journals, demonstrate that surgeries *greatly* reduce the risk of breast and ovarian cancer in women who were born with BRCA1 and BRCA2 mutations.

  • I agree with the comment below. I don’t feel the writer’s complaints are warranted. She should be thankful she found out about her cancer risk, which she should have had some suspicions about. Some of the health results provided by 23 and Me require the user to click through acknowledgements to see the results, eg, the APOE4 gene for Alzheimer’s.

  • Fom the “About the Author” you’re highly accomplished, you are likely highly educated and intelligent. Your paternal aunt died at 37 (!) of breast cancer, you are of Ashkenazi Jewish heritage. You have several children, did your gynecologist or obstetrician at least, never indicate to you when reviewing your health history that you might be at risk for breast cancer regardless of your BRCA genes? It’s the 21st century, every physician asks a health history. Either your physicians are derelict in their duty to you or you didn’t inform them of your history. Those facts are big red flags to anyone with a scintilla of medical knowledge. Blaming 23andMe for not holding your hand while breaking the news, if it shocked you, is not taking responsibility for something you should have known.

    • I think it’s extremely unhelpful to shame someone for something she didn’t know. Many, many highly educated people don’t understand the risks associated with BRCA mutations. And she isn’t blaming 23andMe. She’s saying she wishes she had been offered the opportunity to receive counseling after she learned this information. I actually thought 23andMe offered that. If they don’t, that’s important for readers to know before they spit in a tube, and I would argue it’s important for 23andMe to know how their customers feel when they receive this type of news. That’s just good business.

    • She sounds angry and distressed that she had to find out about her health through a genetic test that had already informed her that she may receive information that could be distressing. ALso, come on she is an educated woman no doubt and you would have to have your head in the sand to not be even marginally aware that genetic testing can reveal health issues.
      it’s not shame – it’s increduality that the author is angry and blaming because she was emotionally upset by the information that she had not planned on learning. I think the other poster who asked along the line of ….if you were given the opportunity to talk about your results with a paid genetic counselor would you have opted to pay an additional fee charged by 23&Me? And yes, the author was writing in a manner that was hinting at outrage with 23&Me and it seems hoping to create negative public opinion about the company. There is unfortunately a blaming tone to the writing.

    • Look, I was one of the first people to do genetic testing with 23andMe, well before the general public was offered this service. And my results gave me troubling but important information that I truly value. So when I saw the headline for this article, I was all set to criticize the author…until I actually read about her experience. I don’t think she’s angry at the company. I think she’s in this odd position where she feels really grateful that she got the information but wishes she had gotten it in a different way. And I’m not sure she’s entirely wrong to feel that way. The medical profession needs to step up its game here. People like Pomerantz shouldn’t *have* to go to someplace like 23andMe to get this information. Her doctor should have assessed her family history, informed her that she was in a high-risk group, and guided her through genetic testing, but that didn’t happen for her and I know based on interviews I’ve conducted with experts in the field that it isn’t happening for many, many people. Companies like 23andMe are filling a void that the medical community has neglected for far too long. That’s one of the most important take-home messages for me.

  • If I learned I had a predisposition for something, I’d alter my diet and eat as if I already had it. I think diet plays a large roll and many conditions may be the results of traditional eating habits.

    • True, but the risks with BRCA mutations are extraordinarily high, and women who carry such mutations are extremely likely to develop breast and/or ovarian cancer if they don’t take measures to avoid it.

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