What are the benefits and risks of direct-to-consumer genetic testing?

Direct-to-consumer genetic testing has both benefits and limitations, as they are somewhat different than those of genetic testing ordered by a healthcare provider.

Benefits

• Direct-to-consumer genetic testing promotes awareness of genetic diseases.
• It provides personalized information about your health, disease risk, and other traits.
• It may help you be more proactive about your health.
• It does not require approval from a healthcare provider or health insurance company.
• As results are provided directly to the individual, they are not in your insurance or medical record (unless you share results with your healthcare professional).
• It is often less expensive than genetic testing obtained through a healthcare provider, which can make testing more accessible to people with no or limited health insurance.
• DNA sample collection is usually simple and noninvasive, and results are available quickly.
• Your anonymous data is added to a large database that can be used to further medical research. Depending on the company, the database may represent up to several million participants.

Risks and limitations

• Tests may not be available for the health conditions or traits that interest you.
• This type of testing cannot tell definitively whether you will or will not get a particular disease. Results often need to be confirmed with genetic tests administered by a healthcare professional.
• The tests look only at a subset of variants within genes, so disease-causing variants can be missed.
• Unexpected information that you receive about your health, family relationships, or ancestry may be stressful or upsetting.
• As testing is done outside of a healthcare clinic, individuals often are not provided with genetic counseling or thorough informed consent.
• People may make important decisions about disease treatment or prevention based on inaccurate, incomplete, or misunderstood information from their test results.
• There is currently little oversight or regulation of testing companies.
• Unproven or invalid tests can be misleading. There may not be enough scientific evidence to link a particular genetic variation with a given disease or trait.
• Genetic privacy may be compromised if testing companies use your genetic information in an unauthorized way or if your data is stolen.
• The results of genetic testing may impact your ability to obtain life, disability, or long-term care insurance.

Direct-to-consumer genetic testing provides only partial information about your health. Other genetic and environmental factors, lifestyle choices, and family medical history also affect the likelihood of developing many disorders. These factors would be discussed during a consultation with a doctor or genetic counselor, but in many cases they are not addressed when using at-home genetic tests.

Learn more about the pros and cons of direct-to-consumer genetic testing:

National Human Genome Research Institute: Direct-to-Consumer Genetic Testing FAQ

GeneReviews: Resources for Genetics Professionals--Direct-to-Consumer Genetic Testing

American College of Medical Genetics and Genomics (ACMG): Position statement on direct-to-consumer genetic testing

Topics in the Direct-to-Consumer Genetic Testing chapter

• What is direct-to-consumer genetic testing?
• What kinds of direct-to-consumer genetic tests are available?
• What is genetic ancestry testing?
• What are the benefits and risks of direct-to-consumer genetic testing?
• How do I choose a direct-to-consumer genetic testing company?
• How is direct-to-consumer genetic testing done?
• How much does direct-to-consumer genetic testing cost, and is it covered by health insurance?
• What do the results of direct-to-consumer genetic testing mean?
• What can raw data from a direct-to-consumer genetic test tell me?
• Can a direct-to-consumer genetic test tell me whether I will develop cancer?
• Can a direct-to-consumer genetic test tell me whether I will develop Alzheimer's disease?
• What does it mean to have Neanderthal or Denisovan DNA?
• How do direct-to-consumer genetic testing companies protect their customers’ privacy?
• Can the results of direct-to-consumer genetic testing affect my ability to get insurance?
• Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.

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