Learning if I was at increased risk for several diseases empowered me, but 23andMe’s explanation of results may make some worry.
Sitting on the futon, my heart started beating rapidly and my hands began trembling.
My laptop was perched on my stomach, my husband’s fingertips hovered over the track pad. He squeezed my shoulder.
“Are you ready?” he asked.
“No!” I responded. Then I looked at him, and he smiled as if to say, “Relax, it’s all going to be fine.” “OK. OK. I’m ready. You can do it.”
We opened the 23andMe webpage, clicked on the results box, and let out a collective sigh.
I purchased the 23andMe Health + Ancestry testing kit at the same time as my husband primarily to find out whether I was a carrier for certain diseases.
I’d been thinking more about having children in the near future. So I wanted to find out if there were any conditions my husband and I were genetic carriers of, or shared an increased risk for, and therefore were more likely to pass on to our future kids.
Being a carrier means that a person has a recessive gene that could cause a condition, but that person doesn’t show any signs of that trait. But the recessive gene can still be passed on to their children.
We found out ahead of my test that my husband wasn’t a carrier for the diseases 23andMe analyzes.
My father’s side is of Ashkenazi Jewish descent, which is an ancestry composition that puts me at higher risk to be a carrier for certain diseases 23andMe tests for.
The 23andMe Health + Ancestry kit gives you a total of 79 reports.
It tests for your carrier status for 42 diseases, such as cystic fibrosis and sickle cell anemia, as well as your genetic health risk for five health conditions, including age-related macular degeneration and celiac disease.
The kit also features a wellness section that tests for things like your likelihood of achieving deep sleep at night, and how much you’re predisposed to weigh.
The kit arrived in a small, colorful package, and the process for swabbing my DNA was effortless. I simply fasted for a couple of hours, then filled a tube with my saliva, mailed the sample in a pre-labeled box, and waited (a seemingly very long) six to eight weeks for my results.
The latest version of 23andMe allows you to choose whether you’d like to know if you carry certain genetic markers associated with late-onset Alzheimer’s and Parkinson’s disease.
My husband, mother-in-law, and a close friend of mine all got 23andMe over the holidays, and each one opted in for both of these health risk reports.
The Alzheimer’s test in particular looks for the number of APOE-e4 gene variations, called alleles, that a person has.
Scott Weissman, a certified genetic counselor with Chicago Genetic Consultants, told me that having copies of the APOE-e4 allele doesn’t necessarily mean you’ll get Alzheimer’s, but your risk for developing the disease increases with the more copies you have.
But the reason for this association isn’t entirely clear and is currently being studied by scientists.
“They don’t specifically know [that the APOE-e4 allele] is what’s causing the disease,” Weissman said. “Or if it is, they don’t understand the mechanism.”
Everyone close to me wanted to know about their health risk for Parkinson’s disease and Alzheimer’s, but I never reached a state of mind where I was comfortable finding out.
Weissman said there’s no hard evidence showing that lifestyle or dietary modifications in people with these markers can actually lower one’s likelihood of developing the disease.
Although there’s clinical research being done right now on whether certain lifestyle changes can slow the progression or even prevent Alzheimer’s in people at risk, the results and any conclusions we can draw from these studies are years away.
Because there isn’t much that can be done to lower one’s risk if they have APOE-e4 markers, I was even less inclined to opt in.
In fact, there’s even a disclaimer on 23andMe’s website that says: “Genetic testing for late-onset Alzheimer’s disease is not currently recommended by any healthcare professional organizations.”
Luckily, I don’t have any family history of Alzheimer’s. But I do have generalized anxiety disorder that permeates every aspect of my life.
If I tested positive for APOE-e4, I envisioned myself growing increasingly preoccupied with whether forgetting someone’s name or what I ate for lunch was an early sign of Alzheimer’s. My stomach turned as I pictured my husband caring for me as an old woman who couldn’t remember his name.
I opted out of both tests.
Five years ago, however, 23andMe users didn’t have the option to opt out of these particular tests. The FDA intervened, and now customers have the option to opt out.
Julia Gregory, who was 49 when she was tested through 23andMe five years ago, found out she had two APOE-e4 markers, making her more likely to develop Alzheimer’s.
“When I learned, I was devastated,” she told Healthline. “There was no information out there, nowhere I could turn.”
Gregory has since created APOE4.info, a support network for people who found out about their APOE-e4 results through 23andMe testing.
After six weeks had passed since 23andMe received my DNA sample, I began updating my email inbox regularly, hoping my results would be ready.
At 6 a.m. on a recent Sunday morning, I groggily checked my email to see my results were ready. I shook my husband awake (I felt bad, I swear) so we could look at the results together.
I felt instant relief the minute I saw I wasn’t a carrier for any of the 42 diseases.
I then noticed the bolded health risk reports at the top. I showed an increased risk for three of the five health conditions tested: celiac disease (obviously, I have it), age-related macular degeneration, and something I’d never heard of called alpha-1 antitrypsin deficiency (ATT).
I learned that this result means I have an increased risk for developing a disease called AAT deficiency, which is present in about 1 in 3,000 to 5,000 people and leads to lung and liver diseases, including emphysema and cirrhosis.
Luckily, the genetic marker they found in my DNA was weak, and my results said that although I had a variant detected, I wasn’t at a significantly increased risk for developing AAT.
I was also nervous at seeing my elevated risk for age-related macular degeneration, mainly because I’d just watched a TV show in which one of the main characters had it, and her gradual loss of vision was unsettling.
But I only had one copy of the two genes 23andMe tested. My results said that I wasn’t at a significantly higher risk than the general population, which eased my worries.
In addition to ancestry, genetic health risk, and wellness reports, 23andMe offers a less stressful, more enjoyable section called “traits,” which includes everything from your likelihood of having detached earlobes to your ability to smell asparagus in your urine.
Before the test, I joked with my husband that if the results didn’t say I had a widow’s peak, I wouldn’t trust any of 23andMe’s findings, as I have the biggest widow’s peak known to mankind.
My results said I was likely to have light hair that’s straight to wavy and no widow’s peak.
I have dark brown, super curly hair and an enormous widow’s peak, so they were definitely off the mark there.
Although my hair results were inaccurate, the rest of my traits were spot on: I don’t get restful sleep, I don’t have the muscle composition of an elite athlete, and I prefer salty food over sweet food.
It was enjoyable to look at these traits and, in a way, verify things I always knew to be true about myself through science.
When I told family members and friends I wanted to take 23andMe’s genetics test, which is $199, I was hit with mixed comments.
I heard everything from, “Isn’t that a lot of unnecessary information? Why would you want to know that?” to “That’s awesome. I’d love to do it if it weren’t so expensive.”
23andMe has been seen as controversial in large part because it’s equipping laypeople with information that oftentimes should be explained by a medical professional.
My AAT deficiency result initially scared me, but my husband is a doctor and was able to explain the results in a way that I could understand.
Had he not been by my side, I don’t think 23andMe’s explanation would have sufficed.
In fact, Weissman, the genetic counselor, said he often gets calls from people concerned about their results.
Despite my fear of knowing whether I had the markers for late-onset Alzheimer’s and Parkinson’s disease, I found it beneficial to know I was at risk for other diseases.
My husband’s 23andMe results showed an increased risk for celiac disease. Because I have celiac disease, this will be helpful information to have when we have children one day.
While the knowledge that I’m more inclined to develop diseases related to the lungs and liver is quite scary, it’s also valuable to know so I can be attuned to certain symptoms as I age.
People with AAT deficiency are more likely to develop emphysema if they smoke. I’m not a smoker, but my twin brother is, and I’ve shared this knowledge with him in hopes it will inspire him to quit.
I feel empowered knowing about my increased risk for AAT deficiency, though I’m not sure the feeling is strong enough to inspire me to opt back in for the Alzheimer’s and Parkinson’s tests yet. I’ll have to think a bit more on that.