Why you shouldn’t be afraid to use direct-to-consumer genetic testing
DNA Double Helix by Jerome Walker, Public Domain Image, Wikimedia Commons
Human beings are 99.9% genetically identical — from a newborn baby in the Congo basin to a middle-aged Wall Street executive in the United States. The small percentage of DNA that is different can say a whole lot about us as individuals and families.
Using the minuscule amount of unique Autosomal DNA, we can learn which ethnicities we’ve inherited from around five to ten generations of ancestors. Autosomal only means they aren’t testing the X or Y chromosome, so a person of any gender can use it. We can also find living relatives and predict how they are related to us with relative accuracy. We can even learn a lot about our predispositions to specific diseases and conditions. And we can now do this for around $100, and from the comfort of our own homes. It’s a fantastic time to be alive.
But what if this information fell into the wrong hands? Couldn’t it be used in nefarious ways? Consumers worry that insurance companies may charge us more or refuse to insure us at all. Long-lost relatives might come out of the woodwork and claim rights to our money. Worst case scenario — we, or someone we’re related to, might be implicated in a crime.
Not so much.
It helps to understand precisely what these genetic genealogy companies are doing.
The Big Three
Three major companies offer direct-to-consumer genetic testing; Ancestry, 23andMe, and FamilyTreeDNA (Namely, their Family Finder product). MyHeritage is tailing not far behind. Each of these companies requires you to submit a saliva sample either by swab or spitting into a collection tube. They can’t use hair, blood, or any other bodily fluid just yet. Only spit.
All of these companies do the same thing, essentially. First, they collect your saliva. Next, they test your DNA for quality and compare that DNA to a reference population to make an ethnicity estimate. Then, the testing company compares your sample against other people who have tested. After a few weeks, the DNA test results are uploaded and finally presented to you on their website. Afterwhich, they store your saliva sample in a secure facility, where you can request to have it destroyed whenever you like.
You can learn which ethnicities you’ve inherited over approximately ten generations. These companies test over 700,0000 genetic markers, called Single Nucleotide Polymorphisms or SNPs. SNPs represent small genetic changes that occur over time. The frequency of these changes is different for each genetic region. A reference panel represents these regions.
The individuals in the reference panel are not your relative matches. They have been sought out by these companies and have tested for this purpose. All four of their grandparents or all eight of their great-grandparents share the same ethnicity. Their family history is well documented. They are representative of the modern genetic population in the area.
The SNPs in your sample are compared with the company’s reference populations’. They perform this comparison multiple times to ensure accuracy and assign a percentage range. The percentage you are shown in your ethnicity estimate is an average of the values of that range.
An estimate is unique to the company you tested with; each company has a different reference population, and your results may vary.
You can connect with relatives, called “matches,” with whom you share DNA. You can predict how closely you’re related to matches by comparing centimorgans, the unit used to measure DNA. The more you share, the closer you are related. A parent/child or sibling match is virtually conclusive. Though, you only share DNA with around half of your fourth cousins and farther.
A report containing your predisposition to certain medical conditions might be available in your DNA test. These reports can predict everything from eye color to cancer genetic predisposition. They can help identify positive traits as well. Maybe you have a gene for longevity, for instance. Health reports are one of the more controversial aspects of consumer-based DNA testing. A person should have a medical professionals available to help them understand their results since the results can be a little scary.
Raw DNA Reports
The big three DNA testing companies offer a raw DNA report that you can use on other websites. If you were to open this report, you would see groups of letters and numbers 99.9% identical to any other human being’s report. Unless you’re a geneticist or a computer, the raw DNA file makes for a boring read. But, you can upload these reports to other websites that open up a whole new world. One of these websites is GEDmatch.com.
Let’s talk about Suzy. She tested with Ancestry, hoping to find a child she gave up for adoption in 1976. Unfortunately, although Ancestry has the deepest gene pool of testers, her closest relative was a 4th cousin. Suzy knows that she should upload her raw DNA to GEDmatch.com because users from any of these companies can independently upload their results. When she does, she notices another member who shares 3400 centimorgans with her. It isn’t either of her parents, so it has to be her son! His email address is listed, the two reconnect and begin a new and beautiful relationship.
But then, there is Matthew. He got a DNA test as a gift, and it’s from 23andMe. He just knew he had Native American ancestors, yet his ethnicity estimate shows no such ancestry. His professor at college told him to try GEDmatch since they have different calculators for different populations. He uploads and explores. After a while, he is contacted by the FBI regarding a murder that happened before he was born. It’s an unidentified victim, and he is her closest match. A genealogist has reverse-engineered a family tree for the victim and surmised that Matthew is Jane Doe’s 3rd cousin. Matthew asks his family about any missing female relatives. He later learns that a great aunt had a little girl she secretly gave up for adoption. No one knew, and she would have gladly gone to her grave with that secret. Now the great aunt feels exposed, and the family is shaken.
Both of these scenarios happen. Suzy’s is more frequent than you’d think. Matthew’s situation is exceedingly rare. Yet, people are afraid to open their genetic closets for fear of the skeletons that might fall out. Other worries include health insurance discrimination and greedy relatives who might feel entitled to their money. These things should never deter a person who would test if they knew it was safe.
Chain of Custody
We’re all on the honor system when we submit our saliva. There’s no notary or official employee there to say that is 100% our spit. For all the testing company knows, you collected the sample from your elderly neighbor or your labrador. Once it gets to the lab, it is identified by a number and never by name. The process of uploading your results to the website is entirely automated.
If the test were linked to a name, it would be the name you supplied. No rules exist stating you need to give your actual name or any other identifying information. You could provide the name of Scooby Dang Doo, and they would still test it.
You are in Control
Quick. What was the name of the person on GEDmatch linked to the Golden State Killer? You don’t know. Nobody does. Unless that person volunteers the information, no one is going to expose him or her.
The company that performed your DNA test will protect it on their website. However, once you leave the relative safety of that website and upload it to other places, the safety of the test is in your hands. Family Tree DNA stated that they would work with law enforcement, but this shouldn’t deter you. If you are related to a violent criminal, don’t you want to know so you can protect vulnerable family members? If you are the world’s best genetic chance at solving a cold case, wouldn’t you want to?
No one will force you to upload to GEDmatch. Ancestry and 23andMe do not allow uploads of raw DNA. The only reason they would allow law enforcement to upload crime-scene DNA for comparison is that they were compelled to by court order. And this just doesn’t happen.
The FBI has its own DNA Database called CODIS, the Combined DNA Index System. The issue is, CODIS uses Short Tandem Repeats(STRs) to test, not SNPs. Apples and oranges, you know. Second, why would they go through the process of acquiring a subpoena instead of just kindly uploading to GEDmatch?
Believe this, if there is an identifiable 4th cousin match or closer, an expert such as Genetic Genealogist CeCe Moore will solve the mystery of the unknown DNA. You don’t even have to test because a family member already tested. Even people who think they have no family have 64 third-great-grandparents. If every one of their descendants had three kids on average, each generation, can you imagine how many 3rd cousins you have?
Our friend GINA
The health information you can get from genetic testing is priceless-whether with an at-home test or with a medical professional. The Genetic Information and Non-Discrimination Act (GINA) makes it illegal for insurance companies to request or use genetic information to make decisions about eligibility or coverage.
GINA doesn’t stop at Insurance; it also protects you from employment discrimination based on familial health history, including results of genetic tests. If an insurance company or employer discriminate against for these reasons, you have one heck of a lawsuit to file.
In the end, there is no reason to be afraid. Your DNA result is not so unique that anyone would steal it. If someone hacked your result, there isn’t much they could do with it. If you’d like to test but are afraid, you should do it with a pseudonym. If you only want to grab your ethnicity results, use Ancestry and opt-out of matching. If you would like to use GEDmatch but would prefer law enforcement didn’t access your test, you can opt-out of that too. Only, please don’t. Countless adoptees, families of murder victims, and would-be future victims of violent crime thank you.