The DNA of At-Home Genetic Tests

A simple swab of saliva can provide interesting (and sometimes vague) answers

Have you ever been at a large family gathering and asked yourself, “Am I really related to these people?”

Now, thanks to the convenience of at-home genetic testing, it’s pretty easy to find out. 

If you’ve watched television in the last decade, you’ve seen the commercials: you can unlock the secrets of your ancestry or solve the mysteries of your DNA, all with the purchase of a test kit.

 At-home genetic testing has many names: direct-to-consumer (or DTC) genetic testing, direct-access genetic testing, home DNA tests, ancestry testing or genealogy testing. Whatever they’re called, at-home tests more popular than ever.

But why?

“Primarily convenience,” according to Bennie Upchurch, MD, FACP, AGAF, FACG, FASGE, an internal medicine specialist at Adena. “With many advancements in medicine, we simply have better options to diagnosis conditions that we were less capable of a decade ago.  Now since many insurances will cover these tests, it certainly has increased usage.”

In the past, genetic testing is done through your health care provider, who determined what kind of test was needed, ordered the test from a lab, collected and sent the DNA sample, interpreted the test results and shared said results with you. Sometimes, your health insurance covered part or all of the cost of testing.

Today, genetic tests can be bought online or in stores. You use a handy test kit (which involves either spitting into a tube or swabbing the inside of your mouth with a Q-tip) to send the company a DNA sample and get results directly from a secure website or written report. You’re basically receiving genetic information by eliminating the middle man.

Unfortunately, the middle man you’re cutting out of the process also happens to be the trained expert.

Buyer beware

As with most services that become quickly popular, it takes a little time for regulators to catch up. That means there’s currently little-to-no regulation of direct-to-consumer genetic testing services. You’re going to have to do some homework to make sure you are using a quality product and not being ripped off.

Types of testing

Most at-home genetic tests serve a specific purpose (such as paternity), while others can provide a broad range of information. It’s also important to consider if there’s information you’d rather not know. In some cases, you can actually decline specific information if you tell the company before it delivers your results.

The information these tests provide may include:

• Ancestry – provides clues about where your ancestors came from, their ethnicity and genetic connections between families.
• Kinship – indicates if you are related to someone.
• Health risks – estimates your genetic risk of developing diseases such as Parkinson’s and Alzheimer’s. Some companies can also provide your carrier status for conditions like cystic fibrosis and sickle cell disease, and even look for genetic variations related to other health-related traits.
• Lifestyle - claims to provide information about lifestyle factors, such as nutrition, fitness, weight loss, skincare and sleep, all based on variations in your DNA.

Advantages

At-home tests can be a valuable tool for your overall wellness by:

• Promoting awareness of genetic diseases.
• Providing personalized information about your health.
• Helping you be more aware of your health.

These tests also provide personal convenience because they:

• Don’t require approval from a health care provider or health insurance company
• Are often less expensive than genetic testing received from a health care provider.
• Are easy to use
• Offer results quickly
• Add your data to a large database that can be used to further medical research 

Disadvantages

As with most things you can buy online and do yourself, at-home testing also includes risks and limitations:

• Tests may not be available for the health conditions or traits you want (or need) to know.
• These tests aren’t definitive about whether you will or won’t get a particular disease.
• Unexpected information about your health, family or ancestry could be stressful or upsetting.
• You could make life-changing decisions based on inaccurate, incomplete or misunderstood information.
• There may not be enough scientific evidence to back your results, which can create unproven, invalid or misleading information.
• Your privacy is at risk if testing companies use your genetic information in an unauthorized way or if your data is stolen.
• Your results could affect your ability to qualify for life, disability or long-term care insurance.
  

Go with the pros

If you’re using at-home genetic testing for fun and curiosity, it’s a great tool to find interesting data about your family history. Who wouldn’t want to know that your great-great-great-great grandmother went to prom with Abraham Lincoln? Unfortunately, these tests can also provide vague results and only partial information about your health. If something serious is found, you definitely need a second opinion. That’s why you should always talk with your doctor about testing options or discuss results you’ve received from one of these direct-to-consumer tests.

“I would advise that individuals work with their physician with their results,” says Dr. Upchurch. “As simple as the test may seem, interpretation of the results is still best performed and discussed with your physician. Some test results taken out of context can be frightening, but working with your physician the results might be more favorable once discussed with your provider.”