At Home Genetic Testing: How Does It Work?

Teens assemble DNA model on a workbench.

In recent years, at home genetic testing has exploded in popularity. What started in 1996 as largely a niche interest for those who could afford it has become available on the shelves of major retailers or at the click of a mouse. 

According to the Center for Disease Control (CDC), more than 12 million people have taken at home genetics tests as of 2018, and that number remains on the rise. While still not incredibly cheap, the cost of at home genetics kits has come down, with many companies bundling their health testing services with their genealogy packages.

Genealogy has been the primary driver for selling at home kits. People are curious about their backgrounds; they want to know exactly what their genetic makeup is, where their ancestors came from and how that relates to them. It’s the same reason online genealogy company Ancestry is still in business. 

Taking clues about your ancestral background from your DNA is just one way these tests work. There are other, more contested reasons people are ordering home kits online or buying them in stores. We’ll explore those reasons in this article, as well as the process behind genetic testing and the different methods used to extract information from your genetic makeup. 

At Home Genetic Testing: Why People Do It

As we said before, the number one reason for at home genetics testing is genealogy. At home kits like the ones sold by 23andMe claim they can use markers from your chromosomal data to figure out what region your ancestors came from, thereby revealing your genetic lineage. Curiosity has made this an incredibly popular service. But there’s another reason people surrender their DNA: to test their health. 

Another claim made by home testing companies is that they can identify from your genetic material the markers that indicate you’re a carrier for a potentially serious health condition like breast cancer. They also report whether you have a genetic variance associated with increased risk for a health condition like heart disease. In theory, this is incredibly useful. It could give people a way to find out important information about their health even if they don’t have access to a doctor. It can be a very good thing, but as the tests are not currently regulated, the CDC advises caution, stating on its blog:

A recent study based on an online survey of 1,001 adults representative of the population found that public awareness of genomics and personalized medicine was not increasing in line with advancements in the industry. Seventy-three percent of the survey respondents had not heard of genetic counseling – which is conducted by certified health professionals to advise consumers/patients on how to interpret genetic test results.

If people know how to use the information, these tests can be a definite boon, but not many people ordering them seem to. It’s highly recommended that you meet with a medical professional that can help you analyze the results you get and put them in context before deciding whether to undergo a potentially invasive or costly medical procedure based on the findings of an at home genetic test. If you find out you’re a carrier for a certain condition, but probably will not develop it, the situation could cause you undue stress. 

There are also tests for kinship that see if one person is related to another, like paternity tests, and some companies sell tests that claim to help you optimize your lifestyle (telling you how much sleep you need based on genetics, for example).

How It Works

There are typically four steps to taking a home genetics test:

  1. Buying the test either online or at a retailer
  2. Collecting the sample by spitting into a provided tube or swabbing the inside of your cheek to provide genetic tissue
  3. Sending the sample to the lab for analysis
  4. Receiving the results 

While away at the lab, the kind of testing your sample is subjected to will vary depending on the results you’re looking for. The U.S. National Library of Medicine’s Genetics Home Reference (GHR) describes three common types of tests run for genealogy on its website: 

  • Y chromosome testing: Only applicable to people with a Y chromosome, this test can be used to explore ancestry in the male side of a family, like telling whether two families with the same last name are related. 
  • Mitochondrial DNA testing: Since everyone has mitochondrial DNA, this test can be used on anyone to determine information about the direct female ancestral line of their family. One benefit of this, according to the GHR, is that information that may have been lost to historical records on female relatives can be recovered. 
  • Single nucleotide polymorphism (SNP) testing: This testing method looks at variations across a person’s genome and compares them against the genomes of other who have taken the same test. This method has the purported benefit of being able to capture more information about a person’s genetic history than either of the previous methods. 

Generally, the lab you send your data to will extract the genetic information from whichever part of your DNA is needed to complete the test, then processes that information by putting it on a chip and running it through specialized equipment programmed to look for variations in the genome. 

Limitations and Concerns with At Home Genetic Testing

While genealogy testing can give you some insight into your background, the results will likely not be exact. For one thing, companies compare your test results against their own databases, so tests taken at different companies may yield different results. For another, as human populations have moved around and mixed with each other many times, your results may not look like what you imagine. 

One concern that always comes up when talking about genetic testing is privacy. How secure does the company keep your data? What do they do with it after you’ve received your results? Who do they release that data to, if anyone? Many companies providing this service understand the concern and need for privacy. They have extensive privacy policies detailing how they handle your information and what they collect. Even so, you should be sure you know the answers to these questions before submitting your test and information. 

One thing not many are aware of is that, once you submit your genetic information, it’s accessible by law enforcement officials. Other security measures they take, such as keeping personal identifying information (names, birthdates, etc.) separate from genetic information and letting you decide who your information will be released to, only goes so far. Those measures won’t protect your data in the instance that a subpoena is issued to the company by law enforcement. 

Curious to Know More?

If you have an interest in genetics and mapping out someone’s genome sounds fascinating, then you may want to pursue a career in laboratory science. The University of West Florida’s online B.S. in Medical Laboratory Sciences (MLS) program is a great place to gain the knowledge you need to enter the field and start a career as a medical lab scientist. Our convenient online program is designed with working medical laboratory technicians in mind, so you can advance your career while balancing your busy life. We’ll prepare you to perform a variety of clinical laboratory tests and procedures, and you’ll be able to assume responsibility in areas such as quality control, analysis, supervision, and education. Our online MLT to MLS program is accredited by the National Accrediting Agency for Clinical Laboratory Sciences and is licensed by the Board of Clinical Laboratory Personnel in the state of Florida. 

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