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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  • Worth explaining all aspects of exploring your personal health destiny. It is not easy to share, especially the pain. There is no perfect path, but knowledge gives you the power of choice and intervention, and hope that you can own those options too.

  • Well done, worth explaining all aspects of exploring your personal health destiny. There is no perfect path, but knowledge gives you the power of choice and intervention.

  • Thank you RobinO for speaking up for all of us who depend on various sources for health related information; those who do not have personal physicians due to cost or access. 23andMe is an excellent source at an affordable price. How medical costs could drop if every American tested to be informed.

  • From the American College of Obstetricians and Gynecologists:

    “Surgical removal of both breasts is called risk-reducing bilateral mastectomy. It can reduce the risk of breast cancer by 85–100% in women with a BRCA mutation.”

    “The removal of both ovaries and both fallopian tubes is called risk-reducing bilateral salpingo-oophorectomy. In women with a BRCA mutation, this surgery can reduce the risk of ovarian cancer by about 80%.”

    https://www.acog.org/Patients/FAQs/BRCA1-and-BRCA2-Mutations?IsMobileSet=false#surgery

  • Not sure where you’re getting your erroneous information, but the prophylactic surgical removal of breasts and ovaries in women with BRCA mutations, particularly for women who are past their child-bearing years, is pretty standard practice.

  • Nowhere–NOWHERE–in the article (or in my comment) does the author (or me) suggest that 23andMe is inherently bad or that it shouldn’t be available to whoever wants it, including people who may not have insurance and/or access to genetic testing and counseling in other ways. But 23andMe does have limitations, which the company itself would readily admit. The author is pointing out those limitations, and I think that’s valuable information. She isn’t advocating that 23andMe shouldn’t exist, nor am I. That’s a mental leap that simply isn’t there at all.

    Also, pointing out that the author’s doctor failed her doesn’t reflect on 23andMe at all. In fact, as this article shows, so many doctors are apparently so far behind on the science and recommendations for DNA testing, it’s a good thing that 23andMe exists. But that doesn’t change the fact that the medical profession needs to up its game. The Affordable Care Act requires that insurers cover genetic testing and counseling for people who meet certain criteria relevant to hereditary cancers. The author of this article almost certainly would have qualified. Her doctor should have recommended it. I honestly can’t fathom why you think it’s wrong to point that out. Yes, our health care system is a mess, and many people have no insurance and no access to genetic testing or even basic health care. Does that mean we should never point out when a doctor screwed up on something so obvious and basic? I honestly don’t see how doing so would make things “worse for the people who are already having a hard time.”

  • Reading the comments has been as educational as the article.
    Thank you Dorothy Pomerantz for being willing to share the aftermath of these results. That is a red flag to me about the process and could be a word of caution to others.
    There are many medical tests out there, many that eliminate the “middleman” or doctor. That will be efficient for robots because robots yearn for data. As humans, we need to more, to make sense out of them. Consulting someone learned in the area would be a tremendous benefit.
    Yet, these “remote” tests are being promoted as “empowering” for the public and presented as more authoritative than they are. We know this because a few years pass, and so many are “walked back” to more modest claims. A youtube, “The Creation Conversation” https://www.youtube.com/watch?v=1mF7w_zF2DU&t=3030s with Stephen Meyer (Signature in the Cell), David Berlinski (Devils Delusion- Scientific Pretensions of Atheism,etc.) They specifically discuss that the DNA “code” could not have occurred by chance, alone, given the mathematics of impossible sequential probabilities. The medical meaning of the genome remains far more mysterious than portrayed. I don’t believe the public and those in the field necessarily appreciate the uncertainties.

    I am surprised that some STAT readers feel the need to leave such shaming, moralistic, and judgmental comments. Emotional shock about a serious illness tends to elicit a less-than-perfect or rational response from most of us. I don’t know why so many here are lining up to “cast the first stone.” There is no good reason to imply or say to an author that she is stupid or naïve. This author had the courage to post such a personal story. There is no good reason to tell someone who is recovering from cancer surgery to “Be grateful.”
    Peggy Finston MD

    • “ … no good reason to tell someone who is recovering … to be grateful”??? The mere fact that one can wake up every day is a good reason to be grateful. If you cannot live your life in gratitude, then you will never be happy …

    • Ms Finston, MD, please careful read her article and closing remark: “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.” She simply needed to ask 23andMe for a genetic counselor to interpret. None of my area physicians are genetic specialists but refer their patients to experts. DNA results are simply one more tool in a competent physician’s tool box. One of my physicians observed and warned me about zinc; another about freezing cold air and reactions when holding one’s breathe such as when under water or swimming laps underwater. Interpretation helps those who want to know more. The Practice of Medicine is both an art and science. No genetic testing substitutes for human interaction: the author’s point!

    • It bears repeating, “caveat emptor”, or read the fine print and understand it before diving in head first.

  • For Robin O.

    That is the opinion of someone with privilege and financial means. “Her doctor should have had her tested” what does 23andme have to do with that? Not everyone has your privilege and doctor’s and insurance willing to do those tests. A relatively inexpensive way to gain knowledge about one self. When I found out the lump on my neck was cancer I heard the oncologist let out a heavy sigh in the hall and I was in tears before he walked in. I have written that doctor dozens of notes thanking him for saving my life. So she can write this tone deaf article that reeks of the financial and health privilege and I can point out that the perfect world you’re suggesting could exist would be even better for people of means and worse for the people that are already having a hard time.

  • As someone who is now 30 and has had cancer twice, the second time metastatic. No signs of disease currently which is a small miracle but if you are concerned about being a patient someday you’d do well to put shoulda and couldas behind you. The best doctors in the world don’t have great bedside manner, we don’t live in a perfect world and your attitude that a company gave you a shot at better healthier life but you got stressed at the way they delivered is is above first world problems. If we have to halt progress so that everyone can have a perfect experience it hurts the most vulnerable. If 23qndme has to offer personalized service, it will cost more and less people will have access to the important testing. or you’d sign up to pay for in person delivery and when you pulled into your driveway and some stooge in a collared shirt with 23 and me on the lapel you’d break into tears knowing you were about to get bad news.

    As someone who has had a cancer diagnosis delivered in person twice, once by my parents as a teenager and once by a surgeon in my mid twenties there isn’t a good way to find out.

    Be greatful that we live in a world where you found out before it’s too late. Stop looking gift horses in the mouth.

    Theres right and wrong, and then there’s reality, if you try and fit your life into black and white if you do get cancer you’ll go insane.

    Good luck, if you’d like to create positive change, getting more of these tests into peoples hands at as low as possible price would be good. Not trying to make the delivery of tragic news palatable, that’s a waste of time until everyone gets access.

    • She did discuss those issues in her article. I guess you were on your high horse already so missed reading that part. I thought this a thoughful and carefully written article. These are valid issues, and some people are being blind-sided. The best way to deal with problems like this is by being open about our feelings so that others are aware of the possibility. It feels sad to me that you couldn’t find the commonalities, rather than seeking out disconnects that don’t really add anything to this particular discussion. The failures of our medical system are well-known.

  • Very misleading; Breast Cancer Surgeries do NOT go as well as portrayed. Rates of infection, necrosis, and flap loss are high. Allergan textured Implants causes the most Bia-alcl lymphomas yet science is catching up to patient experience because testing is (still) not done correctly or routinely. Breast Implant Illness is just now being recongnized.
    There is no easy viable reconstruction surgery available at this time. The news of a genetic mutation has to be shocking however I’d rather have heard that than you have breast cancer and trying to make such decisions. Same goes with recalled Allergan Implants and Bia-alcl nobody is too overly concerned since they are only about 10% of US market and then mainly cancer patients???

    • Although the author mentions having surgery, it wasn’t the focus of this article, so I’m mystified by what you find so misleading about it.

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