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FDA to Regulate Genetic/Genomic Tests Marketed to Consumers?

This morning, the Chicago Sun-Times is reporting that Walgreens plans to sell genetic testing kits to consumers “that can tell people whether they’re likely to get breast cancer, Alzheimer’s Disease, become obese, or suffer from a range of other maladies.”  According to the article, the U.S. Food and Drug Administration is probing  Pathway Genomics, the company who manufacturers the tests, over concerns of “test accuracy.”

Over the last several months, I’ve been working on a research project at the Berkman Center that focuses on the genomics and proteomics sectors of the biotechnology industry.  A large portion of this research is directed at genetic and genomic diagnostic testing.  These days, it’s an extraordinarily interesting field in terms of intellectual property law and proposed regulatory actions like this.  I found this to be a good opportunity to share some of my research findings and why the FDA would be interested in implementing more restrictive regulations for over-the-counter genetic testing services.

First, the FDA does regulate certain aspects of genetic and genomic diagnostic testing.  Under the Federal Food, Drug, and Cosmetic Act, the FDA has the authority to regulate “medical devices,” including “instrument[s], apparatus[es]  . . .  [and] in vitro reagent[s]” that are “intended for use in the diagnosis of disease or other conditions.” (see 21 U.S.C. § 321(h)).  The FDA’s regulations, further include  “in vitro reagent diagnostic products” as “medical devices.” (see 21 C.F.R. § 809.3).  “Class III” medical devices are subject to very stringent regulation and require approval before they can be sold, but “Class I and Class II” do not require any pre-market approvals prior to sale, but must meet certain standards for quality assurance purposes. (21 C.F.R. § 814).  In short, the FDA can step in and require certain accuracy standards for tests that fall within this category.

Nonetheless, some laboratories have been taking advantage of an apparent gap in FDA regulation based on distinctions between genetic testing “kits” and “services.”   Device manufacturers of  genetic”testing kits” sell a set of reagents and instructions for collecting a sample specimen.  These usually qualify as either Class II or Class III medical devices and may require pre-market approval by the FDA.  However, sometimes laboratories develop their own “in-house” or “home brew” tests which are known in industry-speak as “laboratory developed tests” or “LDTs.”  Instead of including the necessary reagents in a “kit”, laboratories are obtaining the reagents from external resellers or manufacturing entities.  Although the purchase of reagents is still subject to FDA regulation, once separated from the LDT, the LDT is no longer regulated as a diagnostic medical device.  The distinction here is that laboratories believe that  LDTs are testing services, not medical devices, and therefore do not need to meet  pre-market approval or quality assurances requirements under FDA regulations.  Interestingly, the FDA’s position is that they can regulate LDTs just like medical devices.  It seems likely that further regulatory clarification will be needed down the road to establish clear standards for LDTs if the FDA continues to push regulatory standards on LDT providers.

The FDA is not the only regulatory agency in the room, either.  The Centers for Medicare & Medicaid Services (or “CMS”) have some regulatory authority over laboratory testing though the Clinical Laboratory Improvement Amendments of 1998 (or “CLIA”).  CLIA basically sets up a regulatory scheme that requires laboratories to meet certain standards of quality control and proficiency of testing, which vary depending on the complexity of specific testing conducted on site.  LDTs, which are otherwise not covered by as “medical devices” by the FDA, are covered under CLIA.  However, because certain genetic LDTs do not have established proficiency standards, CLIA only requires the laboratories to establish their own procedures to verify the accuracy of testing results.  It’s a bit like letting the inmates run the asylum.

I don’t mean to say that LDTs are categorically less accurate than the “testing kits” that fall under FDA regulation.  However, the FDA is clearly concerned with closing some potential loopholes that might give rise to questionable product marketing practices.  And, really, we’re not just talking about products on the shelf at Walgreens.  A simple Google search yields a swath of websites that offer genetic testing services for sale to the public.

Finally, another vector of concern beyond testing “accuracy” is how results are ultimately reported back to consumers.  Many genetic tests are marketed as a services that provide health risk assessments based on genetic sequencing and correlating results with propensities to develop certain diseases.  It’s not the same as a diagnosis by a physician or other medical professional.  Undoubtedly, the FDA is interested in ensuring that marketers are explaining the limitations of certain genetic testing as well as how test results are translated into disease development probabilities  in a consumer-comprehensible manner.  For instance, look at this post on Gizmodo where the anonymous-author shares his genetic test results from multiple well-known companies and remarks that “it’s a game of percentages stacked on percentages, all various levels of true based on research all confounding.”

Posted in: Commentary by David O'Brien.

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