Weighing the Benefits and Risks of Direct-to-Consumer Genetic Testing

Photo source: NHGRI, Jonathan Bailey
Photo source: NHGRI, Jonathan Bailey
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Interest in genetic testing has been on the rise as more people become curious about their ancestry and health-related genetic predispositions. Through ancestry testing, people can learn about their family origins (genealogy) and where ancestors might have come from years ago. Health-related genetic tests include, for example, those that help determine risk of developing disease (predictive), risk of passing a genetic disorder on to a child (carrier) and predict response to medication (pharmacogenetic). With public interest piqued, the initially niche market for direct-to-consumer (DTC) genetic tests has grown significantly. As of 2017, nearly 12 million people in the U.S. have taken DTC genetic tests.

While many patient advocacy groups agree that individuals are entitled to access their genetic information, this information in and of itself does not always equal self-empowerment—it may not result in improved health without guidance from a health professional. New developments in DTC genetic testing have raised concern in the public and professional healthcare sectors about the regulation, validity, and usefulness of such tests.

Recently, a blog post from the Centers for Disease Control and Prevention (CDC) and a statement from the Food and Drug Administration (FDA) highlight how important it is for consumers to understand the potential benefits, risks, and limitations of DTC genetic tests—especially the tests marketed or interpreted for health relevance—before and after purchase:

Potential benefits of health-related DTC genetic tests:

  • They provide information about your health and disease risks as well as genetic traits.
  • The results may motivate you to make healthy lifestyle choices.
  • They do not require an order from a healthcare practitioner.
  • Cost of testing is known up front.
  • Sample collection is typically non-invasive and easy (e.g., saliva).
  • Depending on the company, your information could be added to a database to help genetic research.

Potential risk and limitations of health-related DTC genetic tests:

  • There may not be tests for the genetic or health conditions you are interested in.
  • The test offered may not detect all genetic causes of a specific disease.
  • You may learn unexpected information about your health, family, or ancestry that may cause you stress or anxiety.
  • The results will not definitively tell you if you will or will not develop a disease.
  • An unexpected result could lead to more medical testing that may or may not be covered by your insurance. It is often recommended that specific positive medical results be confirmed by your healthcare practitioner.
  • DTC tests are not billed to insurance. Cost of testing is out-of-pocket for consumers.
  • There is currently little oversight into the claims the test companies make, and the companies may not be able to deliver on their claims.
  • Your privacy might be compromised if the testing company uses your genetic or personal information without your permission, in ways that you are unaware of, or if the information is stolen.
  • Your results may affect your ability to get life, disability, or long-term care insurance.

Health-related DTC genetic tests in particular are concerning because they are often conducted without input from a healthcare practitioner or genetic counselor. Genetic test results can be difficult to decipher. A positive result does not necessarily mean a person will develop a disease. Similarly, a negative result does not mean a person will not develop a disease. The American Medical Association (AMA) stresses that genetic test results, especially those for complex diseases, should be interpreted by a healthcare professional like a geneticist or genetic counselor in the context of an individual’s family and medical history, environmental factors, and current medications.

There are also concerns about the potential psychological effects of health-related DTC genetic testing. Results from a recent National Poll on Healthy Aging shows a growing interest in genetic testing for adults ages 50 to 64. While more than half those surveyed expressed an interest in health-related genetic tests, two-thirds also expressed concern that results from such tests would cause them to worry more about their future health. Concerns can be compounded if no medical cure or intervention is available to address the potential disease.

In a safety communication released in November 2018, the U.S. Food and Drug Administration (FDA) expressed its concern about individuals stopping or changing drug treatment based on results from DTC pharmacogenetic tests. The FDA encourages the public to be aware that the companies that sell these tests sometimes make health claims that are not supported by reliable scientific or clinical information. As an example, the FDA warns against pharmacogenetic tests that make predictions about an individual’s response to and potential side effects for medications used to treat depression. Based on test results, a patient may change the dose of their medication without consulting their healthcare practitioner, which could lead to potentially serious health consequences.

It is important for consumers to know that DTC genetic tests only provide one piece of an individual’s health puzzle. Genetic health testing should be part of a medical exam that includes the individual’s family and medical history, and should not be used as a substitute for a traditional healthcare evaluation.

As a service to the public, the National Society of Genetic Counselors (NSGC) offers an online Find a Genetic Counselor Tool” and the resource “Is direct-to-consumer genetic testing right for you?” for people considering DTC genetic testing or for those who would like more information about results from their test.

View Sources

(June 12, 2018) S. Bowen and M.J. Khoury. Centers for Disease Control and Prevention. Genomics and Health Impact Blog. Consumer genetic testing is booming: But what are the benefits and harms to individuals and populations? Available online at https://blogs.cdc.gov/genomics/2018/06/12/consumer-genetic-testing/. Accessed on December 27, 2018.

(October 1, 2018) K. Gavin. Press Release. University of Michigan. Older adults have high interest in genetic testing—and some reservations. Available online at https://labblog.uofmhealth.org/lab-report/older-adults-have-high-interest-genetic-testing-and-some-reservations. Accessed on December 27, 2018.

(May 23, 2018) T. Ray. GenomeWeb. Public awareness of personalized medicine not growing in step with industry, survey shows. Available online at https://www.genomeweb.com/molecular-diagnostics/public-awareness-personalized-medicine-not-growing-step-industry-survey-shows#.XCT7di2ZPpB. Accessed on December 27, 2018.

(November 1, 2018) U.S. Food and Drug Administration. Safety Communications. The FDA warns against the use of many genetic tests with unapproved claims to predict patient response to specific medications: FDA safety communication. Available online at https://www.fda.gov/MedicalDevices/Safety/AlertsandNotices/ucm624725.htm. Accessed on December 27, 2018.

The American Medical Association. Precision Medicine. Direct-to-consumer genetic testing. Available online at https://www.ama-assn.org/delivering-care/precision-medicine/direct-consumer-genetic-testing. Accessed on December 27, 2018.

(2014) H. Etchegary. Public attitudes toward genetic risk testing and its role in healthcare. Personalized Medicine. Available online at https://www.medscape.com/viewarticle/833530_1. Accessed on December 28, 2018.

(December 18, 2018) The National Institutes of Medicine. Genetic Home Reference. What are the benefits and risks of direct-to-consumer genetic testing? Available online at https://ghr.nlm.nih.gov/primer/dtcgenetictesting/dtcrisksbenefits. Accessed on December 27, 2018.

S. Hahn. National Society of Genetic Counselors. Is direct-to-consumer genetic testing right for you? Available online at http://www.aboutgeneticcounselors.com/Genetic-Testing/Is-Direct-to-Consumer-Genetic-Testing-Right-for-You. Accessed on December 27, 2018.