The Personalized Medicine Coalition, or the “PMC” is an organization of over 250 members that seeks to promote the understanding and adoption of personalized or precision medicine concepts, services, and products by health care providers and consumers. Periodically, the PMC releases studies and reports on the state of the industry.Recently, the PMC released a user-friendly guide for consumers, “A Consumer’s Guide to Genetic Health Testing” (Guide) explaining the types of available genetic tests, how to obtain a genetic test, and the context in which the tests should be evaluated.
For the purpose of the Guide, a genetic test is any test that evaluates a person’s genes and variations in them. The Guide focuses on physician-initiated clinical genetic tests and consumer genetic tests (health and non-health tests) but notes that genetic tests are used in forensics as well. The Guide compares the information that can be obtained from health and non-health genetic tests, government oversight or regulation of these tests, and the interpretive assistance provided for each test type.
The Guide also notes that some of the information learned from a genetic test may be “actionable” such as if one has an increased risk of developing breast cancer or recommend life style changes, while the results of other tests are not necessarily actionable, such as ancestry information. Repeat testing, additional non-genetic testing, and consultation with appropriate health care professions are recommended before acting on test results.
The Guide also explains that privacy policies regarding the results of genetic tests are regulated by federal, state and local policies. For example, if a health care provider orders the test or if the test is paid for by an insurance company, the result will likely become part of a permanent health care record. Consumers who purchase consumer genetic testing are encouraged to review the company’s privacy and consent policy. Test results could be shared with third parties such as insurance companies, health management organizations, hospitals, doctors, businesses, and government agencies. While the Genetic Information Nondiscrimination Act of 2008 (GINA) does provide consumer protection from discrimination by health insurers and employers on the basis of genetic information, this protection does not extend to life insurance companies and long-term disability insurance. In addition, genetic information could be shared with law enforcement officials and the courts, if done through legal process such as the issuance of a subpoena.
In sum, the Guide is a concise, useful summary that describes the state of genetic testing and what consumers should consider and expect from the types of tests that are available.