Direct-to-Consumer Tests Represent New Form of Low-Value Care, JAMA Viewpoint Argues

Shortly after the FDA announced it would permit the sale of genetic tests to consumers, an editorial contends that these tests will actually contribute to the deluge of low-value, wasteful medical services that the healthcare system should try to eliminate.

Shortly after the FDA announced it would permit the sale of genetic tests to consumers, an editorial contends that these tests will actually contribute to the deluge of low-value, wasteful medical services that the healthcare system should try to eliminate.

In a reversal of previous policy, the FDA announced in April that the genetic testing company 23andMe could directly sell testing kits to consumers that would allow them to test their DNA for mutations linked to conditions like Parkinson’s and Alzheimer’s disease. The CEO of 23andMe touted the move as a step forward for consumer choice, saying the FDA had “empowered individuals by authorizing direct access to this information.”

However, some are beginning to argue that the benefits of expanded access to information may be outweighed by the costs that will result from these tests. In a Viewpoint article published in JAMA, Kimberly Lovett Rockwell, MD, JD, writes that the direct-to-consumer medical marketplace is “eluding” ongoing efforts to contain the costs of care and improve quality.

The numerous policies and initiatives designed to improve healthcare quality aim to reduce or eliminate unnecessary services and tests that offer low clinical value. Clinicians are incentivized to follow evidence-based guidelines that recommend screening and treatment options that have been proven effective.

According to Rockwell, direct-to-consumer medical tests are not developed in accordance with evidence-based guidelines and are advertised without regard to whether they are appropriate for an individual consumer. Tests must only demonstrate accuracy to the FDA and the Clinical Laboratory Improvement Amendments (CLIA) certification board, and their advertising is regulated by the Federal Trade Commission (FTC).

These relatively lenient restrictions on the marketing and sales of direct-to-consumer genetic tests have contributed to the industry’s rapid growth, Rockwell writes, which could have some important implications for both patient safety and healthcare costs.

First, the tests pose the risk of causing unnecessary anxiety to consumers who misinterpret the results and could prompt them to seek unwarranted interventions based on these mistaken diagnoses or false-positive results. These were the major concerns that led the FDA to ban direct-to-consumer marketing of genetic tests until the recent reversal. However, even if consumers refrain from diagnosing themselves and instead consult a physician about the results, there could be significant economic consequences.

Rockwell writes that primary care physicians will likely refer patients to a specialist or order further testing in response to a patient’s at-home genetic testing results, meaning that patients who bring results to their physicians “consume already scarce primary care capacity and potentially initiate unnecessary repeat testing.” Insurers must pay for these additional visits and tests while the companies selling the genetic tests reap the profits.

This cost burden on the healthcare system posed by the cascades of care resulting from direct-to-consumer genetic tests is unfair and counterproductive as health policy attempts to move in a value-based direction, according to Rockwell. As the FDA, CLIA, and FTC lack the regulatory authority to ban these tests, she writes that state legislators and medical boards must ensure that genetic tests are only performed under the supervision of healthcare professionals, and clinicians should explain the benefits and risks of these tests to their patients.

“These interventions would serve to increase accountability for preserving scarce health care resources and also protect patients from untoward downstream consequences of follow-up testing and procedures,” the article concluded.