'I took a home genetic test and got scary results'

Everyone was 23andMe-ing, posting their genetic makeup on their social media feeds. And according to co-founder Ann Wojcicki, over 2 million people have used the genetic-testing service.

And why not? It’s easy to understand the appeal. You spit in a tube, send a package away in the mail, and learn more about yourself in a few weeks than you could learn from years of talking to difficult and often not forthcoming elderly relatives.

I’ve always been vaguely ambiguous looking, to the point where strangers sometimes come up to me on the street and ask my ethnicity. Weird, right?

I’m a third-generation American. All of my great grandparents immigrated through Ellis Island. What I do know? My paternal grandmother’s family were beer makers and German Jews. My paternal grandfather was from Romania and other countries “somewhere near Russia." My mother’s family were also Jews who fled Eastern Europe, I think from Poland and other countries that made up the former U.S.S.R. or other nations nearby, but I don’t know anything more specific than that. When I sent in my spit sample to 23andMe, I was hoping to see a breakdown of all of the countries that make me look the way I do, to finally be able to name where I’m from with more confidence and specificity.

What I got instead was entirely different. I got my kit for free at work, but if you order yours, you have two options: $99 for just ancestry, and $199 for health and ancestry. Because mine was free, I didn’t think twice about doing both. In retrospect, perhaps I should have.

After I mailed in my sample, I went to register my kit. I was asked if I wanted to agree to the Research Consent Document, supposedly in order to learn even more about myself by answering a survey about my health history that could be used in conjunction with my results for a more nuanced understanding, as well as for 23andMe’s further "research." At first, I gave consent and starting filling out the answers to the questions. But a few pages into the most invasive health questionnaire I’ve ever encountered, I reconsidered.

It felt like this was too much information to share for a few reasons. First, it was long and time consuming. Second, with the Trump administration's proposed health insurance plans suggesting many people could lose their health insurance coverage for pre-existing conditions, I couldn't help but imagine future scenarios in which I would regret releasing all of this sensitive and private information to a website.

I stopped filling out the voluntary health questionnaire and went back and unchecked all of my answers. I even changed my name to a fake name (that way it couldn’t be connected or used against me), and I immediately breathed a sigh of relief.

I waited the usual six-to-eight weeks and eagerly opened my reports when they arrived. The genetic information was somewhat expected and unexciting. I learned that I’m 95.3 percent Ashkenazi Jewish—apparently that’s what’s in my genes as opposed to all of the little countries “near Russia." I’m more Neanderthal than most people, which is kind of cool, I guess. And my friend Larin from L.A. and I both share one common Turkic Yakut ancestor, which, we both joked while Googling images, is maybe why we look so good in hats? The rest of the few remaining percentage points are made up of a mix of Middle Eastern, Japanese, and Eastern European ancestry, but not a significant enough number of any of them to really feel like I could claim them in any real way.

My genetic reports were even less fun. Apparently, I am a carrier of Gaucher disease type 1, which felt particularly relevant because my husband and I are thinking of starting a family soon. According to the National Institutes of Health, Gaucher disease type 1 is "an inherited disorder that affects many of the body's organs and tissues." This means it can come with enlargement of the liver or spleen, anemia, lung disease, and bone abnormalities.

I immediately fell down the Google rabbit hole, analyzing the symptoms and likelihood of passing this condition on to a child. But I ultimately contacted a certified genetic counselor (CGC) to see how seriously I should take this result.

“23andMe results are validated, so they are likely to be accurate, but you should get a second opinion from a certified genetic counselor and another lab before acting on them,” Mary E. Freivogel, the CGC, told me. She said my husband should also be tested by a CGC and certified lab, and that if he is a carrier as well, we would have a 25 percent chance of having a child with the disease, and that we would want to enter into our future family planning with that in mind if we were to get that result if and when he is tested.

“Most of these genetic diseases and conditions are multifactorial,” Freivogel said. “There are genetic influences to them, but there are also other influences like lifestyle, exposures, even just chance happenings. Services like 23andMe can’t tell you whether you will or won’t get a disease. But, what they can tell you is what the genetic piece of your risk is, and then it’s really important that you think about the other pieces that contribute to that risk as well, and to seek out a professional to counsel you through the next steps, if you do get a concerning result,” Freivogel said.

Freivogel also pointed out that there are many genes that are not in the 23andMe results, and that people who have family histories for Alzheimer'sand certain cancers could be “falsely reassured” by their 23andMe results, when, in actuality, the test simply doesn’t include the variant that puts them at risk.

“If you have a strong family history of a disease, whether it’s one that’s been included on the panel that 23andMe offers, or not, you really should talk with a genetic counselor because there may be additional genes above and beyond what is included in the 23andMe test, and genetic counselors can help steer you in the right direction,” Freivogel says. You can find one in your zip code at: findageneticcounselor.com.

Another thing to remember is that even though 23andMe is the most popular DNA service, it is not the only one out there, and you may find that another is a better fit for you. Living DNA, for example, is a competing company that will give you ancestry reports for the same $99 that 23andMe charges (they don’t have the health option, which may be a relief to many people). The company claims to have DNA samples to match with yours from 80 regions in comparison to 23andMe’s 31 regions, as well as other larger samples in terms of testing that you can read about on their site.

After going through this process, I can see why it might be wise not to open the Pandora’s box of finding out that I am a carrier of a genetic disease, why it would be advisable to only use these services for the curiosity and ancestry component, and to wait to make an appointment with a CGC to find out any sensitive health information. That said, I can’t honestly imagine doing anything differently. I’m glad I changed my profile and used a fake name before my results came back, but I’m also glad to have it for myself. I’m even going to take the competing Living DNA test (with another pseudonym to protect my privacy, of course), just to see how my results compare.

As far as the Gaucher disease news goes, I plan on continuing to see a CGC as I begin to plan my family with my husband. Even though it was difficult to find out this way, I’m glad to know that I’m a carrier of a genetic disease so I can plan against the risk and make choices for myself and my future with the most knowledge possible. I will keep learning and finding out anything I can that helps me to protect my health, my family, and my future, no matter how upsetting or complicated the information may be.