At-Home Genetic Testing Kits: Do They Really Work?

Move over personality quizzes! There’s a cooler test that has been giving people insights into their genetic code: at-home genetic testing. But before you swab your cheek and wait by the mailbox for your answers, make sure you understand what these tests can and can’t do.

At-home genetic testing, which is also referred to as direct-to-consumer (DTC) testing, offers many options to analyze genetic factors associated with ancestry, health, physical traits or abilities. These can be impactful for those looking for more information on how genetics may influence their health risks. Some tests are specific to a particular condition, while others identify common diseases that may be more likely to occur. At-home genetic testing can inspire lifestyle changes to reduce the risk for health conditions but should not take the place of seeking care from a health care provider.

Types of Genetic Testing

Several types of genetic tests can be completed at home. Some tests are more extensive, while others will be more specific in identifying certain risks or traits. Some at home tests may still require a physician to order them. The main categories of genetic tests include:

• Lifestyle: what does your DNA have to say about your nutrition, fitness, sleep needs or even your likelihood of having perfect musical pitch?
• Ancestry: where your ancestors might have come from?
• Disease risk and health: are you at risk of developing certain diseases or health problems?
• Kinship: are you biologically related to a specific person (for example, paternity testing)?

What Health Conditions Can You Identify with At Home Genetic Testing Kits?

Do certain diseases or health conditions run in your family? How many of them could you avoid if you made lifestyle changes now? How likely are you to pass on certain traits or genetic predispositions to your children? These are some of the answers people hope they’ll discover with an at-home genetic testing kit.

At-home genetic testing can show if you have genetic indicators for the following:

• Heart Disease
• Diabetes
• Cancer
• Parkinson’s and Alzheimer’s
• and many more

Test results can give risk information for these common medical conditions based on many genetic variants. It’s known as a polygenic risk score.  Polygenic risk scores can help identify individuals at higher risk for developing certain health problems. They can help doctors know to screen people for these conditions earlier or more often.

For example, the popular DTC genetic testing company 23andMe offers a Type 2 Diabetes report. It looks for genetic variants that may make a person more likely to develop diabetes. If someone learns they are genetically at risk of developing diabetes, they may be inspired to maintain a healthy weight and diet to avoid the disease.

How At Home Genetic Tests Work

At-home genetic tests usually involve a simple saliva test. Some tests ask you to swab your cheek while others require you to spit into a small test tube. In some cases, you may need to prick your finger and dab blood onto a collection card. This small amount of your DNA is then mailed to a laboratory. The laboratory will analyze your sample for genetic differences. It can take a week or longer until you receive your results through the mail, email, or a mobile app.

How Accurate are DTC Genetic Tests?

An at-home test is a good start if you’re looking for indicators of a disease or condition or if you want to know more about your family ancestry. If you want to get definitive details on your DNA, such as whether you carry a gene mutation that would put you at higher risk of having a child with a genetic condition, you should go to a medical professional.

While at-home tests can evaluate many things, they do not take into account your overall health history or your family history. They may only look at an incomplete number of genetic markers or they may only be relevant for people of certain ethnicities. There is also a chance that you can get a false positive or false negative result. At-home tests may not be performed in an accredited or licensed lab.

Medical genetic testing that is sent to a clinical lab is available through your healthcare provider, but it’s important to remember that health insurance may not cover this unless there is a medical reason for testing.  Medical genetic testing ordered by your doctor is more likely to provide accurate results, and clinical labs are regulated by various federal and state agencies.

An example is the BRCA genetic testing, which studies the DNA to determine if a specific gene variant that increases the risk for cancer is present. While some DTC labs state that their test covers BRCA, the results may not give a comprehensive analysis of an individual’s DNA.  This is why seeing a clinician is often recommended when there is a concerning personal or family history of cancer.

Are There Limitations to At-Home Genetic Tests?

While at-home tests can tell you about your genetic predisposition to an illness, they don’t consider environmental factors or your diet. For diseases such as type 2 diabetes, an individual’s lifestyle will play a much larger role in the development of the disease.

This extra knowledge and insight into a person’s genetic makeup could influence them to make healthier decisions that improve their quality of life.

What Should I Do After Receiving the Results?

If you received a positive result on a test, you should connect with your primary care physician about recommended follow-up. They may suggest more thorough medical testing or meeting with a genetic counselor.

Questions to Ask Before Purchasing a DTC Genetics Test

Why do you want the test?

Is it to gain insight into your ancestry? Are you simply curious about your genetics? Those are great reasons to use an at-home genetic testing kit. But if you’re concerned that you may have inherited a genetic illness or that you might pass it on to your children, it may be more appropriate to schedule an appointment with a genetic counselor.

What would you do if you received a concerning result?

Consider the next steps if you receive an unexpected or concerning result. Before announcing anything to friends and family, set up an appointment with a health care provider to verify the results and get professional advice for what to do next.

Do you know what the DTC company may do with your personal information?

Read the fine print before selecting a genetic testing company or lab. Do they collect more data about you than necessary? How much information do they share or sell to third-party companies?

Other Considerations Before Doing At-Home Genetic Testing

Taking an at-home genetics test can be a fun experience that can help you learn more about yourself! You can also become part of the All of Us research program that works with the National Institute of Health with a goal of building a diverse health database focused on disease prevention and treatment.  This research program also offers participants the option of receiving results regarding their ancestry, traits and health.

If you’re concerned about a genetic predisposition or are experiencing symptoms of a disorder that could be genetic, connect with your physician to discuss medical genetic testing.  This will ensure accurate results, proper medical attention, and any needed follow-ups.

 

Jill Ciske is a certified genetic counselor who has been with Madison Women’s Health since 2011. Jill received her undergraduate degree in Genetics from University of Wisconsin-Madison, went on to receive her Masters of Science in Genetic Counseling from the University of Minnesota, and has been certified by the American Board of Genetic Counseling since 1996.