Late last year, the US Food and Drug Administration (FDA) made headlines by sending a Warning Letter to direct-to-consumer (DTC) genomics testing company 23andMe alleging that its flagship testing product was misbranded.
Specifically, regulators said 23andMe's Saliva Collection Kit and Personal Genome Service (PGS) was acting as a medical device in that it was informing people of their risk of developing various diseases and conditions, in effect acting as a diagnostic test. Without having received approval from FDA, the company was in violation of federal law, regulators said.
In the absence of a clear policy declaration, critics were left to read the regulatory tea leaves and postulate as to FDA's deeper intentions. Would FDA require all genomic tests to seek premarket approval? Would 23andMe need to seek approval for each separate disease claim, or would it obtain approval as a singular product? Would this make it impossible for consumers to readily access their genomic information? And is genomic information really a medical device, or is it consumer information better understood as free speech?
A Letter to DHHS
In the meantime, FDA has remained relatively quiet on the subject, perhaps looking to better formulate its own views in the form of a guidance document.
Now a prominent member of the Senate's Health, Education, Labor and Pensions (HELP) Committee, the Senate body charged with overseeing FDA, has called on the agency to clarify its position on patient access to genetic information.
At the core of Sen. Lamar Alexander's (R-TN), the ranking Republican member of the committee, letter to Kathleen Sebelius, secretary of the US Department of Health and Human Services (DHHS), is FDA's philosophy about personal health information (PHI).
In FDA's Warning Letter to 23andMe, it states that the company's testing information had the potential to mislead consumers, subjecting them to needless worry, unnecessary surgical exams, improperly delaying cautionary exams, and other risks.
"Some of the uses for which PGS is intended are particularly concerning, such as assessments for BRCA-related genetic risk and drug responses (e.g., warfarin sensitivity, clopidogrel response, and 5-fluorouracil toxicity) because of the potential health consequences that could result from false positive or false negative assessments for high-risk indications such as these," FDA explained in its letter.
Paternalism or Safeguard?
To Alexander, this philosophy is overly paternalistic.
"This is the information age," he stated. "Individuals should have direct access to personal health information, and federal policies should clearly support that goal. Recent actions by the Food and Drug Administration (FDA) indicate a resistance to the importance of personal health information.
The problem, Alexander noted, is also that DHHS-the parent organization of FDA-seems to have conflicting views on the topic. In February 2014, the Centers for Medicaid and Medicare Services (CMS), another DHHS branch, issued a policy stating that consumers should have access to their testing information.
As the law firm Hyman, Phelps & McNamara observed on its blog at the time of that policy's release, that put CMS squarely at philosophical odds with the approach taken by FDA in its treatment of 23andMe.
"There is a logical distinction between CLIA-certified laboratories reporting the results of a physician-ordered test directly to the patient, and a direct-to-consumer testing service that reports results with potentially no physician involvement at all," they wrote. "However, the circumstances FDA cites in the 23andMe, Inc., letter as being most concerning would entail at least some degree of physician involvement."
They concluded: "So the questions raised by these two government actions remain: when does greater access to health information empower patients, rather than putting them at risk?, or, when is patient empowerment worth the risk? The answer for now seems to be 'when HHS and FDA say so.'"
What is DHHS' Policy?
Alexander, in his letter, seems to agree with that interpretation of policy.
"These are two conflicting actions from your Department in just a few months' time and raise questions about your agency's commitment to making personal health information available to support medical innovation," he wrote. "The conflicting decisions coming from agencies within your Department will slow down the access to or availability of novel diagnostics and targeted therapies."
Alexander concludes his letter by calling on Sebelius, and presumably FDA, to spell out its position on consumer access to PHI, including the "criteria used to evaluate the types of tests described in these two actions that resulted in such opposite outcomes."
Alexander Letter to FDA