Who has access to a person’s genetic test results?

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Medical test results are normally included in a person’s medical records, particularly if a doctor or other health care provider has ordered the test or has been consulted about the test results. Therefore, people considering genetic testing must understand that their results may become known to other people or organizations that have legitimate, legal access to their medical records, such as their insurance company or employer, if their employer provides the patient’s health insurance as a benefit.

However, legal protections are in place to prevent genetic discrimination, which would occur if insurance companies or employers were to treat people differently because they have a gene mutation that increases their risk of a disease such as cancer or because they have a strong family history of a disease such as cancer.

In 2008, the Genetic Information Nondiscrimination Act (GINA) became federal law for all U.S. residents. GINA prohibits discrimination based on genetic information in determining health insurance eligibility or rates and suitability for employment. However, GINA does not cover members of the military, and it does not apply to life insurance, disability insurance, or long-term care insurance. Some states have additional genetic nondiscrimination legislation that addresses the possibility of discrimination in those contexts.

In addition, because a person’s genetic information is considered one kind of health information, it is covered by the Privacy Rule of the Health Information Portability and Accountability Act (HIPAA) of 1996. The Privacy Rule requires that health care providers and others with medical record access protect the privacy of health information, sets limits on the use and release of health records, and empowers people to control certain uses and sharing of their health-related information. Many states also have laws to protect patient privacy and limit the release of genetic and other health information. The National Human Genome Research Institute Genetic Discrimination page includes links to more information about GINA, HIPAA, and other legislation related to genetic discrimination in insurance or employment.

What are at-home or direct-to-consumer genetic tests?

Some companies offer at-home genetic testing, also known as direct-to-consumer (DTC) genetic testing. People collect a tissue sample themselves and submit the sample through the mail. They learn about the test results online, by mail, or over the phone. DTC genetic testing is often done without a doctor’s order or guidance from a doctor or genetic counselor before the test. Some states in the United States do not allow DTC genetic testing.

Whereas the genetic testing for cancer that is typically ordered by a doctor involves testing for rare major hereditary cancer syndromes, most DTC genetic testing for cancer risk involves the analysis of common inherited genetic variants, called single-nucleotide polymorphisms, that have been shown to be statistically associated with a particular type of cancer. Each individual variant is generally associated with only a minor increase in risk, and even when added together all the known variants for a particular cancer type account for only a small portion of a person’s risk of that cancer. Although the identification and study of such variants is an active area of research, genetic tests based on these variants have not yet been found to help patients and their care providers make health care decisions and, therefore, they are not a part of recommended clinical practice.

Even when people have DTC genetic tests for known mutations in genes associated with hereditary cancer syndrome, there are potential risks and drawbacks to the use of DTC testing. In particular, without guidance about genetic test results from an informed, genetically knowledgeable health care provider, people may experience unneeded anxiety or false reassurance, or they may make important decisions about medical treatment or care based on incomplete information.

Also, although some people may view DTC genetic testing as a way to ensure the privacy of their genetic test results, companies that offer DTC genetic testing do not always tell the consumer the details of their privacy policies. In addition, if people consult their doctor or other health care provider about the test results obtained from a DTC testing vendor, the results may become part of the patient’s medical record anyway. Also, companies that provide DTC testing may not be subject to current state and federal privacy laws and regulations. It is generally recommended that people considering DTC genetic testing make sure that they have chosen a reputable company.

The U.S. Federal Trade Commission (FTC) has a fact sheet about at-home genetic tests which offers advice for people who are considering such a test. As part of its mission, the FTC investigates complaints about false or misleading health claims in advertisements.

The American Society of Human Genetics, a membership organization of genetics professionals, has issued a statement about DTC genetic tests that recommends transparency in such testing, provider education about the testing, and the development of appropriate regulations to ensure test and laboratory quality.

How are genetic tests regulated?

U.S. laboratories that perform health-related testing, including genetic testing, are regulated under the Clinical Laboratory Improvement Amendments (CLIA) program. Laboratories that are certified under CLIA are required to meet federal standards for quality, accuracy, and reliability of tests. All laboratories that do genetic testing and share results must be CLIA certified. However, CLIA certification only indicates that appropriate laboratory quality control standards are being followed; it does not guarantee that a genetic test being done by a laboratory is medically useful.

The Centers for Medicare and Medicaid Services has more information about CLIA programs. The National Library of Medicine also has information about how genetic testing is regulated and how to judge the quality of a genetic test. This information is available in the Genetics Home Reference.