ASHP Policy Position 2607
DIRECT-TO-CONSUMER CLINICAL GENETIC TESTS
Status: Current
To support research to validate and standardize genetic markers used in direct-to-consumer clinical genetic tests and guide the application of test results to clinical practice; further,
To encourage the Food and Drug Administration (FDA) to continue to regulate direct-to-consumer clinical genetic tests as medical devices and work with the National Institutes of Health to evaluate and approve direct-to-consumer clinical genetic tests; further,
To advocate that direct-to-consumer clinical genetic tests be provided to consumers through the services of appropriate healthcare professionals who order tests from laboratories certified under the Clinical Laboratories Improvement Amendments of 1988 (CLIA); further,
To support FDA policies and procedures regarding advertising of direct-to-consumer clinical genetic tests, including the following requirements: (1) the relationship between the genetic marker and the disease or condition being assessed is clearly presented, (2) the benefits and risks of testing are discussed, (3) such advertising is provided in an understandable format, at a level of health literacy that allows the intended audience to make informed decisions, and includes a description of the established patient-healthcare provider relationship as a critical source for information about the test and interpretation of test results; and (4) how patient information is collected, protected, shared, and used; further,
To encourage health systems to create policies and procedures addressing direct-to-consumer genetic testing results as it relates to confirmatory testing, integration of genomic information into the healthcare record, genetic counseling, and clinical decision-making; further,
To encourage pharmacists to educate consumers and clinicians on the potential risks and benefits of direct-to-consumer clinical genetic tests for disease diagnosis and decisions involving drug therapy management.
This policy position supersedes ASHP policy position 2101.
Rationale
Since 2018, the FDA has implemented multiple processes, procedures, and guidance documents surrounding in vitro diagnostics (IVDs), also referred to as direct-to-consumer (DTC) testing. The FDA now reviews DTC tests for moderate- to high-risk medical purposes, to determine the validity of the test claims. The FDA review consists of assessing for analytical validity, clinical validity, and claims made by the company marketing the test about how well it works. Additionally, the FDA reviews descriptive information about the test for accuracy and for an appropriate level of health literacy.
The FDA now regulates DTC tests as medical devices. The specific regulatory requirements depend on the risk classification of the individual IVD. The FDA has been proactive about streamlining the regulation of DTC tests, as well as determining appropriate for use by a consumer without the involvement of a healthcare provider.
In October 2018 and April 2019, the FDA issued a safety communication to alert the public to concerns regarding pharmacogenetic tests with unapproved claims to predict an individual's response to a specific therapeutic drug, where these claims may not be supported by clinical evidence. Warning letters were sent by the FDA to select companies. Patients and providers were advised the FDA has not evaluated genetic tests, which make claims regarding the effects of a specific medication. Pharmacists should continue to educate patients about the potential limitations and variability of DTC genetic tests.
As consumer use of DTC testing continues to be prevalent, it is critical healthcare systems develop policies and best practices related to the utilization of data patients may present to their healthcare teams. Providers should be aware that for most medications the relationship between genetic variations and a medication's effects has not been established. If a patient provides a test report from a genetic DTC test claiming to predict a person's response to a specific medication, the healthcare team should seek information in the FDA-approved drug label regarding whether genetic information should be used for determining therapeutic treatment. Confirmatory testing should be considered by the healthcare team from a CLIA-certified laboratory.
Finally, DTC genomic testing is done outside of a healthcare system where they are considered assets of the company, which does not provide the same protections. In 2023, the genetic testing company, 23andMe, with over 12 million customers, suffered a cyber-attack that had compromised data for nearly 7 million users – exposing sensitive personal and genetic data, including names, photos, birth years, ethnicity, and information from family trees.
23andMe filed for bankruptcy in 2025 and placed its assets up for sale. In the wake of this, there have been multiple concerns regarding the sale of customer data (DNA, health, ancestry, etc.). and it is unknown what new owners might do with that data. Customers are also concerned that deleting their account or deleting the DNA sample is complicated or slow, and they’re not confident the data is actually removed after confirmation. Currently, there is no federal genetic privacy law and few states have some consumer protections regarding data privacy which complicates this further.