What You Need to Know Before You Try At-Home Genetic Testing & DNA Tests
Rebekah Coşkun, DrPH, Postdoctoral Fellow, T32 Cancer Prevention & Control Health Disparities Training Program, University of Arizona Cancer Center
Usha Menon, PhD, RN, FAAN, Vice Dean of Research and Professor, University of South Florida College of Nursing
Chances are you or someone you know has had direct-to-consumer genetic testing, commonly referred to as DNA testing. Maybe you were shopping at Sam’s Club and saw a genetic testing kit sitting on the shelf or saw it as a suggestion on Amazon. Perhaps you gave or received such a test as a gift. Marketing of these at-home genetic tests has accelerated over the last few years, and they are becoming quite popular.
A variety of private companies offer consumers DNA information on their ancestry, risk for certain health conditions, personal traits, paternity, and carrier status for certain genetic diseases. Consumers can simply go online or pick up the phone to order and pay for their desired test, sign the required paperwork, receive a genetic testing kit. They then send in their DNA sample and get their results directly back from the company. This means consumers most likely bypass the conventional healthcare system of provider-ordered testing, health insurance, and clinical settings.
The implications of at-home health-related genetic testing and subsequent decisions about treatment (if needed) are still in their early stages. Here are 6 points to consider to help set realistic expectations for at-home health-related genetic testing:
- Your risk for many health conditions is not determined by genetics alone. Developing a disease depends on a combination of different factors interacting with each other: genetics, environment, lifestyle, and behaviors. Therefore, genetic testing results do not show the presence or absence of disease. The results you receive do not mean you are diagnosed with Alzheimer’s, heart disease, or cancer. Having increased risk for a disease and actually having a disease are two different things. For example, you may get results back that show you are at low risk for developing a disease. This does not mean that you will not get that disease. The exact opposite is also true. You may be at an increased risk for a disease, but never develop the disease. So, it is important not to over- or underestimate genetic testing results.
- Health-related at-home genetic testing is not the same as a comprehensive risk assessment done by a trained genetics service provider. For example, the results from at-home genetic tests usually do not consider other key factors in their risk assessments, such as family history, environment, lifestyle, and behavioral factors. Genetic counselors and medical geneticists can provide you with a more comprehensive risk assessment.
- Genetic testing results may be confusing and difficult to interpret. Not all companies offer access to a genetics service provider or provide genetic counseling to help make sense of the results. A knowledgeable genetics service provider (like genetic counselors, medical geneticists, or genetics nurses) may need to help explain what these test results mean. The National Society of Genetic Counselors’ “Find A Genetic Counselor” directory allows you to locate genetic counselors in the U.S. and Canada.
- Direct-to-consumer genetic testing companies are not all the same. They may offer different types of genetic testing, use dissimilar genetic technologies, and have different privacy, data usage, data security, and confidentiality practices. Before you have genetic testing, make sure you do your homework to understand all aspects of the company, the tests they offer, and what they can do with your data.
- Be prepared for what happens after testing. For example, when you decide to have genetic testing, are you psychologically prepared for your results, especially if you receive an unexpected result? Have you thought through how you will use your results? Certain genetic information is shared between blood relatives, and you may find out information that influences you and your relatives. There may be follow-up clinical testing you may want to do. Health insurance may or may not pay for it.
- Make sure you are aware of The Genetic Information Nondiscrimination Act of 2008. It focuses on non-discrimination for employment and health insurance, but does not include life, long-term care, or disability insurance protections.
Direct-to-consumer or at-home health-related genetic testing may be right for you. Doing your homework on the companies, tests, and what they can and cannot tell you, means you will be better able to make informed decisions about genetic testing.
The National Institute of Health’s U.S. National Library of Medicine has the Genetics Home Reference Guide, and the National Human Genome Research Institute discuss Issues in Genetics, including implications for genetic research. It offers help to understand genetics, genetic testing, and genetic conditions.
The Centers for Disease Control and Prevention has a Genomics and Health Impact blog that contains reliable updated information about these tests.