Health
A Journey of Self-Discovery — Through Home-Testing Kits
Today's home tests can tell you about your heritage, cancer risks, STI s, and overall health.
October 10 2018 4:03 AM EST
May 31 2023 8:08 PM EST
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Today's home tests can tell you about your heritage, cancer risks, STI s, and overall health.
I turned 50 last year, and in doing so I've become increasingly aware of my own mortality. Unfortunately, it doesn't make me more eager to see a doctor or undergo certain screening tests, especially knowing I have a concerning familial history. My grandma had both breast cancer and Alzheimer's, my sister skin cancer, and a decade ago a cousin died suddenly from a rare form of hereditary cancer (she was gone within six months of being diagnosed). My father found pre-cancerous polyps in a colon screening, meaning I've had to face more frequent colonoscopies.
I've become increasingly interested in at-home testing options, especially those that could alert me to genetic risks for certain diseases. You can now mine your genome for clues about long-term health. You can also avoid going to a clinic, yet check yourself for sexually transmitted infections. It's undeniably simple.
You order a kit online, it arrives in a box with easy to follow instructions. All it takes is a little spit in a tube, a swab of your junk, or the prick of a finger, then you ship the sample to a lab in the pre-paid box. Within a few weeks, you get a notice in your email letting you know your results are ready. And all you have to do is log in and see your results. Here's a run-down of some of the top at-home health tests.
Home Genetic-Testing Kits
There are a growing number of companies (including Thermo Fisher Scientific, AncestryDNA, and Vitagene) offering DNA testing to reveal aspects about your health. I tried 23andMe (23andMe.com)'s Health and Ancestry kit ($139), which provides an overview of your ancestry, indicates whether you are genetically predisposed for certain medical conditions, and reveals if you're a "carrier" of others that you might worry about passing down to your children.
23andMe's mission is to "empower everyone to understand the genome and what it means for each of us." In pursuing that goal, the company provides reams of information and disclaimers reminding you that these tests only tell you if you have certain genetic risks. Keep in mind, the results won't reveal whether you will or won't get a medical condition, nor can it determine whether you will or won't get cancer, for example, since most cancers are due not to your genetic makeup but to environmental and lifestyle factors, as well as random mutations.
Turns out, my personal genome is pretty boring -- a good thing when talking about health conditions. But it is admittedly disappointing when talking of ancestry. Being 100 percent European (primarily British/Irish/German), I basically couldn't be any whiter. There was a single Eastern European relative back in the 1700s, which makes sense but is at odds with my father's oral family history. They trace their German heritage back to Russia, during the reign of Catherine the Great, who recruited Germans to settle and farm sections of Russia. After her reign ended, these German-Russians were persecuted, and many were exiled to Siberia (my lineage escaped to America). German-Russians kept to themselves, and supposedly didn't intermingle with the locals -- except, of course, that rare Russian playing footsy with one of my ancestors.
The most exotic element of my ancestry is that I have more Neanderthal variants than 67 percent of 23andMe customers (it still accounts for less than four percent of my overall DNA). I think that actually makes me more native European, since Neanderthals were the first to settle in Western Europe and only later were supplanted by early humans. The genetic test traces my maternal line to ancestors who "migrated into Europe from the Middle East as the Ice Age receded between 14,000 and 11,000 years ago."
Although the ancestry information is admittedly fascinating, I went to 23andMe to check my DNA for things like Parkinson's and celiac disease. The one increased risk -- a marker for an increased risk of developing late-stage Alzheimer's -- I was already aware of, since my grandma suffered from the disease and it has a hereditary component. With that marker, I have a four to seven percent chance of developing late-onset Alzheimer's disease by age 75 and a 20 to 23 percent chance by age 85. There are many other factors that can also impact my long-term brain health.
I particularly liked that 23andMe continues providing me with additional and updated information. When I initially submitted my saliva, the company wasn't offering BRCA (breast cancer) testing and I went with a different company (see below). But recently 23andMe began doing BRCA testing again, and -- at no extra cost -- alerted me that my results were automatically available.
Home Cancer Screening
Color Genomics (Color.com) provides doctor-ordered clinical-grade genetic testing and board-certified genetic counseling. You can have your own physician order the test, but Color also offers independent doctors who will review your information and order the testing on your behalf. I chose that option. Its Hereditary Cancer Test ($249) analyzes 30 genes, including BRCA1 andBRCA2 to detect mutations in genes associated with an increased risk for common hereditary cancers including breast, colorectal, melanoma, ovarian, pancreatic, prostate, stomach, and uterine cancers.
Like 23andMe, Color's test simply requires a saliva sample. Color also encourages you to provide detailed information about your health history and any relatives who've had cancers themselves. This information adds to the company's analysis of your risks. Although my tests indicated I have none of the genetic variations, because I do have relatives with certain cancers, Color still recommends I work with my primary physician to create a customized cancer screening plan (which unfortunately means I still have to undergo those colonoscopies). Included in the price is access to a counselor who will go over your personal results, and answer any questions.
The ordering physician will automatically get a copy of your test results but you can also share them with other providers. The price includes access to a board-certified genetic counselor who will help answer your questions regardless of whether you test positive or not. The counselor reviews basics about genetic testing, goes over your personal results, and answers any questions. These sessions typically last less than an hour.
Color reiterates that cancer has many causes, and only "10 to 15 percent" of certain cancers are "passed down through families." Indeed, recent studies suggest many cancers are due to random mutations that appear to have no genetic, environmental, or lifestyle causes.
Home STI Tests
MyLab Box (myLabBox.com) delivers STI screening options to your doorstep, allowing you to avoid your doctor's office or a clinic, yet get tested -- and sometimes even treated -- for the most common sexual transmitted infections.
Lora Ivanova, cofounder and CEO of myLab Box, tells The Advocate the prevalence of STIs are rising and "we would be fools to continue to pretend that if only we could convince people to walk into a clinic, that would change. They have refused to do that for hundreds of years. Something's got to give. I think that this is really a revolutionary way to screen for our health. And these tests are just as accurate as tests that are done in clinics and doctors' offices."
The company offers a Love Box ($499) aimed at couples, which tests for HIV, hepatitis C, herpes simplex type 2, syphilis, chlamydia, gonorrhea, and trichomoniasis. The LGBTQ friendly company offers same-sex couple kits as well as hetero kits. MyLab Box says of the Love Box, "Whether you are looking for a lifetime partner or a fling, make your health and that of your partner a priority by testing together!"
In addition, myLab Box offers what they call "extragenital tests." These are oral and rectal tests that can identify STIs in the throat or rectum. Few doctors or clinics offer these tests as part of regular screenings, even though, Ivanova points out, "Regardless of sexual orientation, the fact is many people engage in oral or anal sex and as many as 20 percent or more of infections that originate locally in one of these sites may not be detected by the conventional genital model. So being able to screen for infections locally we feel is extremely important, especially for sexually active adults."
I ordered a Safe Box ($189), which offers five tests including HIV and the four most common STIs (excluding HPV -- see below). The tests are a little more involved than spitting into a tube. The hardest for me was dripping blood onto the provided card without getting nauseated. To get enough, I ended up having to squeeze blood out of the pin prick on my finger. My results were all negative, but some STIs can have long incubation periods, so myLab Box encourages regular retesting to stay safe.
Results can be an unequivocal positive or negative but can also be invalid or indeterminate -- in which case myLab Box recommends retesting and offers a 25 percent discount. Those who test positive can take advantage of a complimentary phone consultation with a doctor. Depending on your symptoms and state regulations, that doctor may even be able to immediately send a prescription to a pharmacy of your choosing. "Things that are easy to treat -- like chlamydia, gonorrhea, trichomoniasis -- these are antibiotics that can be easily prescribed," says Ivanova, explaining that for other conditions myLab Box doctors refer clients to a specialist. But with easily treated STIs, "We do a very brief evaluation... which helps us identity if there's any symptoms that are far progressed. If that's the case, we will recommend you go to the urgent care center, because when it comes to treatment, we believe that every minute counts and the sooner you get treated, the less of a chance that you will experience complications and potentially severe damage to your health. So even like a 24-hour delay, we just don't want to risk that."
MyLab Box says it is "the only at-home testing service offering diagnostic results and treatment consultations via telemedicine," which Ivanova says, "means that you can not only conduct your testing, but also your treatment consultation completely remotely without setting a foot outside of your house, and get your prescription delivered to your local pharmacy," some of which now also do home delivery.
Home HPV and Cervical Cancer Screening
HPV is the most common STI, with over 40 percent of Americans currently affected. It has been linked to cervical cancer, which attacks the cervix, the opening that connects the vagina and uterus. Experts recommend women and anyone else who has a cervix (including many trans men) undergo regular Pap smears, which scrape cells from the cervix, to test for abnormal cells in order to catch what can be a deadly cancer -- especially if left untreated. Unfortunately, the Pap is an invasive process, particularly for trans men, many who eschew gynecologists and avoid the potentially life-saving tests. That makes at-home screenings for HPV and cervical cancer particularly enticing.
MyLab Box only offers HPV screening kits to women over 30. It previously offered an HPV test for cisgender men (using urine) but found, "The accuracy level for the urine sample test for males is just not as good as with the female test." Furthermore, Ivanova says, there are few treatment options for HPV-positive men. so it stopped offering the test. It also doesn't offer the test for those under 30.
"We want to be as liberal as we can for the sake of the consumer," Ivanova says, but the company must balance its customer's interests with the standard practices of the healthcare industry. Although younger people obviously get HPV, their risks for cervical cancer to develop only rises later. MyLab Box says about one in 20 women aged 30 and above has high-risk HPV and is more likely to have infections that don't resolve on their own. These persistent infections can cause mutations in the cells of the cervix leading to cervical cancer. MyLab Box's HPV test looks for 14 types of high-risk HPV, including HPV-16 and HPV-18, which cause most cervical cancers.
If you test positive for HPV, you can get a free phone consultation with a doctor who will go over your results and discuss next steps. While a positive HPV result does not mean you have cervical cancer, you should follow up with your primary care provider, and you will likely need to have a Pap test at that point. If it shows abnormal cells, your health care provider may recommend further testing.
Testing While Trans
If you are transgender, like I am, it can impact these tests, and it may change how you have to fill out your application. With 23andMe, I filled out my name and marked male. After providing my sample, the company sent me a message indicating it had noticed a discrepancy in my DNA and asked me if I knew the reason: in this case the discrepancy was that my DNA revealed I have XX chromosomes, not the XY of most cisgender males. There was a box I could check to note I'm trans. I did, and my results arrived soon after.
Color didn't ask me my gender. Men and women can both request cancer screenings that include the BRCA gene. Cisgender men can get breast cancer, but trans men have higher risks because of the breast tissue that remains behind even after top surgery. Color's resulting report used my name but identified me as female and ranked my risks accordingly.
MyLabBox.com's home page asks, "Which sex are you?" When I was working on this story, the HPV test was only available to those who clicked "female."
I asked Ivanova about this, and she said, "We understand that neither sex nor gender really are descriptive," Ivanova said right before the switch. "It really is the presence of a vagina and a cervix that kind of makes this distinction for us from a testing process. It ultimately comes down to just the mechanics of the test. We're just trying to figure out what is that more evolved language we can use to really kind of make this clear across different audiences because it's been a bit of a challenge, I'll be honest with you, really making sure that we are both sensitive to identities as well as really making medical and biological distinctions."
Later, the company added the language "adults with a cervix" to those over 30 it recommends get the HPV screening. Now if you click "male" you'll find a single kit (the $369 14-panel Total Box) lists HPV. When you click for more information, it says the "optional $30 add-on" for HPV "is only available for women 30 years of age or older. It should not be ordered by men of any age or by women under 30."
Clearly, more work needs to be done in demanding these kinds of companies use wording that's inclusive of trans individuals and also considers the fact that not all of us fit neatly in either the male or female boxes.
Counterpoints
My own primary care doctor scoffed at the idea of an at-home HPV test, telling me the only way to get an accurate test would be to swab the cervix -- which he suggested is hard to pinpoint for a do-it-yourselfer.
Ivanova says he's thinking of Pap smears, whereas myLab Box's test is different, but "just as accurate. It actually makes the Pap smear kind of irrelevant. You don't require an actual cervical sample collection to detect this type of infection. It's very precise and the sample is sensitive enough and adequate enough to detect the presence of HPV without getting to a cervical swab."
Other critics wonder how much these kinds of tests really help. Does knowing you have a higher risk really lead you to choose more healthy outcomes? Some worry about the impact of learning you (may) have cancer without the immediate support of trained medical staff, and they remind folks that most people will become ill from causes that aren't revealed in your genes.
And what about their accuracy? According to Gizmodo, Adam Rutherford, a British geneticist and author of A Brief History of Everyone Who Ever Lived, says heritage DNA tests are "not telling you where your DNA comes from in the past. They're telling you where on Earth your DNA is from today." (Instead of my family tree having a Russian, maybe some Russians have Germans in theirs.) And 23andMe told the Gizmodo author (who is Syrian but received discrepant DNA results from different tests), "Different companies have different reference data sets and different algorithms, hence the variance in results. Middle Eastern reference populations are not as well represented as European, an industry-wide challenge."
Other outlets, including Seattle Times have found that not all of these companies are using top of the line labs, and their results can reflect that, with large numbers of false positives. Experts say the bigger concern is a false negative, which may leave you beleiving you don't have a cancer risk that you actually do.
Margaret McCartney, author of The Patient Paradox told The Guardian last year, "People are being persuaded to have these tests done, and they get results back that are very often of very low value and dubious helpfulness. ... I can give you really good advice right now without seeing a single test result: be active, have lots of social networks, do work you enjoy, try not to smoke or drink too much, don't be overweight or underweight, eat lots of fresh fruit and vegetables."
Finally, there's been a lot of concern about privacy issues, particularly in light of 23andMe's recently-inked, reportedly $300 million collaboration with the pharma giant GlaxoSmithKline to mine the data from the site. But, 23andMe insists it will only use your genome for research if you have agreed for them to do so -- and you can change those settings to opt out at any point.
Bottom Line
It was fun to learn more about my heritage, and admittedly at least one of the health tests was one I'd been putting off. I didn't learn anything shocking, though I would have followed up with my doctor if I had. But if I'd found out I had cancer-related genes, a high risk of early onset dementia, or a previously undiagnosed STI, I might have an entirely different perspective.