Direct-to-Consumer Genomic Testing

Health care providers have traditionally managed genomic testing. The provider orders the test from a certified lab, collects and sends the samples and then interprets the test results.

Direct-to-consumer (DTC) genomic testing operates differently. Direct-to-consumer companies market and sell genomic tests directly to the consumer/patient (eg, via the Internet or television) and provide the consumer with access to his or her genetic information without the involvement of a health care professional.

Direct-to-consumer genomic testing has become a highly accessible and increasingly affordable option for consumers; however, it is under increasing scrutiny by government, scientists and consumers alike owing to lack of regulation. Additional concerns surrounding DTC genomic testing include misleading results and privacy issues.

Analysis process

For DTC genomic testing, a kit is typically sent to the consumer through the mail. The DNA sample is often collected at home by swabbing the inside of the cheek or, if necessary, by visiting a health clinic for a blood draw, depending on the test sample required by the company. The consumer then mails the sample to the company, which performs the genomic testing and reports the results back to the patient. Results may be disclosed by phone, mail or through a web portal maintained by the company. Some companies offer consultation with a genetic counselor or health care provider to discuss the results.

Information reported back to the person

Three federal agencies are involved in regulation of genomic tests: CMS, the FDA and the Federal Trade Commission. The FDA has played a critical role in regulating these genomic tests and sets limits on what is reported back to the consumer.

The FDA has approved companies to report results from validated tests that have gained FDA approval. Companies have been approved to report mutations associated with known inherited diseases, but they have been prohibited from reporting diseases a person may be at risk for in the future. The FDA and others have expressed a variety of concerns regarding DTC genomic testing including companies reporting data on assays/platforms that have not been validated to demonstrate sensitivity and specificity to measure what is being tested, companies misrepresenting their platforms in marketing materials, lack of clinical role for some markers, the risk to patients due to availability of their genetic information and lack of provider support to help consumers understand their results.

Examples

Examples of DNA testing companies include:

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