This post has been updated May 14.
By Kirell Lakhman
What will FDA know, and when will it know it? Pathway Genomics and Walgreens, along with their investors, partners, customers, and rivals, expect the agency to answer those questions soon.
For now, disregard FDA's suggestion that Pathway's consumer genetic tests may likely require clearance (the agency appears unsure itself), or its dubious claim that there is a difference between peddling the test online and selling it in a bricks-and-mortar pharmacy (it gives no evidence).
Also set aside the manifold ethical, moral, spiritual, and epically misguided arguments for and against the phenomenon of DTC genetic testing (too subjective), and forget for a moment FDA's ambiguous and inconsistent letter to Pathway (23andMe, among others, was left untouched).
Lastly, ignore FDA's sudden and questionable interest in a private company's marketing budget. As OIVD Director Alberto Gutierrez described it this week to my colleague Turna Ray, "[t]he fact is that Pathway's bold move to make themselves noticed achieved its end and brought them to our attention."
The remark would have carried weight had it referred to the contents of Pathway's marketing in the way that Roche's marketing literature for its AmpliChip drug-metabolism array raised red flags at the agency for making inappropriate clinical claims. But Gutierrez was apparently concerned with the novelty and scope of the deal Pathway struck with Walgreens.
Absent a valid and fair game plan for regulating consumer genetic tests, the agency's rationale for launching an investigation into Pathway's service is akin to crying "FDA knows best."
At least that's what I came away with after reading Gutierrez's claim this week that Pathway's test may need to be regulated because FDA does not know "whether patients are taking actions that could put them in jeopardy" based on its results.
In fact, there are arguments in favor of using DTC genetic tests beside the obvious rationale that rational individuals are capable of rational decisions.
For instance, a study published in the New England Journal of Medicine last year concluded that disclosing results of an ApoE genotyping test to adult children of patients with Alzheimer's disease "did not result in significant short-term psychological risks."
Another study, which I wrote about last year, found that patients who used DTC genetic tests “may be among the most motivated to take steps toward healthier lifestyles.”
This NHGRI-led study, which appeared in Genetics in Medicine, also suggested DTC genetic tests can be useful tools to physicians. "Understanding early adopters’ motives for seeking testing can be informative to physicians in managing patients who present with genomic profiles," it said.
Just as a positive OTC pregnancy test should be followed by a visit with an OB/GYN, so, too, should an OTC genetic test be chased with an MD office visit. As I wrote earlier this week, if Pathway's service uncovers a high-risk allele for, say, cardiovascular disease, the first thing that customer will do is telephone his physician as a patient to discuss the results.
ACLA happens to be in this corner, saying yesterday that "[c]onsumers should seek the guidance of a personal physician or other health care provider in the use of direct-to-consumer genetic tests to ensure proper understanding of the results and appropriate follow-up."
Saying DTC genetic tests "can offer useful information," ACLA adds that they be accompanied by "clear and personal communication between patients and healthcare providers."
Taking the argument a modest step further, the National Society of Genetic Counselors this week suggested "people should first meet with a genetic counselor to determine whether [DTC] genetic testing is right for them and to prepare for what they might learn."
Many people with whom I've discussed this story have said they strongly doubt FDA has a clear strategy about how to handle the DTC genetic-testing phenomenon, now 3 years old.
If FDA does have a strategy, however preliminary, it should not be keeping it a secret; give the market a hint, some crumbs. It should likewise admit when it's been stumped.