What you need to know before you buy an at-home genetic test



At-home genetic testing kits, also known as direct-to-consumer or lab-to-consumer DNA tests, are growing in popularity — especially as holiday gifts.

Most people are aware that at-home genetic testing kits can be used to provide information about their ancestry and family history. Due to advances in genetic testing technology and the availability of lower-cost genetic tests, some at-home genetic testing companies are now also offering health-related genetic testing services. These services can provide information about gene mutations that may put you or a family member at a higher risk of developing an inherited condition such as cancer.

Although these at-home genetic tests may provide information about your health and family history, as well as a dose of highly personalized holiday fun, there are a few things that you should know before you purchase a kit as a gift or send in your own DNA sample.

What are at-home genetic tests and how do they work?

At-home genetic tests are kits that use a sample of your cells to look for changes in your DNA called gene mutations, as well as information on ancestry or paternity. The kit provides tools and instructions for collecting a sample of your saliva, blood, or cells, usually from a swab of the inside of your cheek. You then send your sample to a laboratory (lab) for testing.

Are at-home genetic test results complete?

Although at-home genetic test results are usually accurate, they will likely be incomplete. That’s because at-home genetic tests only test for a few specific gene mutations. The limited scope of at-home genetic tests means that the results may not provide a complete picture of your risk for developing certain medical conditions.

For example, at-home genetic testing providers typically only test for three BRCA gene mutations that are linked to an increased risk of breast cancer, as well as other cancers. These three gene mutations are most common in people of Ashkenazi Jewish descent. For people in the general population who are not of Ashkenazi Jewish descent, the test may not capture other specific BRCA gene mutations that are linked to breast cancer risk. That means that it is possible for someone who receives a BRCA-negative result from an at-home genetic test to still be at an increased risk of developing breast cancer and possibly other cancers.

Are at-home genetic test results easy to understand?

The terminology used in at-home genetic test results can sometimes be confusing for consumers. For example, if the test results show a “variant” or “clinically significant mutation,” a consumer might not realize that they could be at increased risk of developing an inherited health condition.

What is the difference between at-home genetic test results and genetic test results provided by a certified genetic counselor?

Most people aren’t aware that at-home genetic tests do not provide a comprehensive genetic analysis. In contrast, genetic counselors carefully review your family history and coordinate “whole gene sequencing,” which looks for any mutation that may be associated with an increased risk of certain inherited diseases.

“It may help to think of genetic testing like a book — at-home DNA tests look at one word on one page, while professional genetic counselors read the entire book.” — Dani Kupperman, Genetic Counselor, Danbury Hospital

Further, genetic counselors can now perform genetic tests on a large number of genes on a single panel, resulting in more efficient, comprehensive genetic testing when compared to the less-extensive tests that were available years ago.

Do at-home genetic test results need to be validated?

Due to the limitations of the tests and the terminology used in the results, the National Society of Genetic Counselors — and the at-home genetic testing manufacturers themselves — recommend that all at-home genetic test results be reviewed in a clinical setting by a certified genetic counselor or physician and confirmed by another CLIA-certified genetic laboratory (lab) before being used for healthcare decision-making.

Plus, although at-home DNA test companies have CLIA-certified genetic labs, these labs do not specialize in cancer genetic testing. This is another reason why consumers should validate their at-home DNA test results with a certified genetic counselor.

At Nuvance Health, our genetic counselors often see patients who have done at-home genetic tests and want to verify their positive or negative results for BRCA and other gene mutations. Our genetic counselors can assess the at-home genetic test results, perform additional testing for verification, and work with each patient and his or her physician to develop a proactive health management plan based on the most accurate and complete information.

Are at-home genetic test results private?

At-home genetic testing services usually allow consumers to choose how much information to share — and who they would like to share it with. However, at-home genetic testing providers may not be held to the same privacy standards as healthcare providers.

At Nuvance Health, we have policies and processes in place to protect your privacy, including what information is revealed from your genetic testing results and who has access to your information.

What should I consider before doing an at-home genetic test — or giving one as a gift?

Although at-home genetic tests might seem like a fun idea for yourself, a friend, or a family member who might not otherwise seek genetic counseling, it is important to consider the risks, limitations, and psychological implications of DNA testing before you make a gift purchase or submit your DNA sample.

For example, it is possible for a genetic test to reveal unexpected information — such as that your parents are not your biological parents or that you are at risk for a serious disease. Such unexpected news can understandably cause stress and anxiety, especially if it is not the right time in your life for you to learn these new facts.

Consumers who use at-home DNA tests may not fully understand or be prepared for the implications their results may have. At Nuvance Health, our genetic counselors work with patients before beginning the genetic testing process to help them weigh the pros and cons of genetic testing. We make sure our patients are emotionally and mentally prepared for the possible results, which can sometimes be upsetting and may lead to difficult decisions or conversations with loved ones.

Key takeaways about at-home genetic tests

At-home genetic tests can be fun and interesting, as well as provide people with the tools and empowerment they need to be proactive about their health. Before taking an at-home genetic test, it is essential to understand what you are getting into and make sure you really want to know the results. It is also critical that you make a plan to verify the results with trained professionals.

For additional information about genetic counseling and testing services at Nuvance Health’s Danbury Hospital and Norwalk Hospital visit our websites:

Danbury Hospital Genetic Counseling and Testing

Norwalk Hospital Genetic Counseling and Testing