Getting Serious About Personal Genomics’ Risks

When we launched Genomes Unzipped three months ago, we promised a focus on the “budding industry of personal genomics.” Recent developments, however, have demonstrated that this emerging field is susceptible to critics who may be more focused on generating controversy than in engaging in a thoughtful discussion about the balance of risks and benefits in personal genomics. The University of California Berkeley’s short-lived proposal to provide a voluntary and educational genetic testing program for its incoming freshman class highlight this concern.

Over at the Genomics Law Report, in Getting Serious About Personal Genomics’ Risks, I review the Berkeley example and argue that we must carefully examine where and why we restrict the ability of individuals to participate in personal genomics. The failure to do so threatens not only the future of personal genomics but the autonomy of the individuals involved.

For more, please see the complete post at the Genomics Law Report.

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9 Responses to “Getting Serious About Personal Genomics’ Risks”

  • I agree with Pete Shank’s post on the GLR site. “Getting serious,” should imply an understanding that the industry needs to grow up and accept some regulation. Making unsubstantiated medical claims is not kosher. “Come on, it’s all in good fun, what’s the harm?” is not an argument that will move us toward enlightenment. The biggest hurdle personal genomics has right now is not well-intentioned critics, it’s the lack of a workable business model.

  • Neuro-conservative

    Dan — I think you should breath a sigh of relief that the “experiment” has been cancelled. This program was in a category with the infamous Ivy League nude photo scandal, and would have only left the personal genomics movement with egg on its face.

    While you insist that the risks were hypothetical and overblown, the same could be said about the benefits. I think that Prof. John Hawks of U Wisconsin said it well:

    In fact, there is no credible science that supports the idea that knowing your lactase persistence genotype, alcohol metabolic genotypes, or “folate” metabolic genotypes will improve health.

    This information is useless. It’s a total waste of money. It gives a highly misleading picture of genetics.

    The most probable outcome is to condition 18-year-olds to accept government-sponsored genotyping. So to make it complete, the program comes with a lack of adequate privacy safeguards. The proposal has students using “bar codes” to access their data on a public website.

  • Hawks may have said it well but he’s said it wrong. There are so many credible scientific studies on LCT, MTHFR and ALDH2 linking them to precise metabolic effects. They certainly “support the idea” that this genetic knowledge can improve health, of course they don’t prove it…they do “support” it. ALDH2 for example – approx 50% east Asians lack the protein and have a severely nasty reaction to even a small amount of alcohol (due to accumulation of acetaldehyde). The majority of these individuals tend not to drink, so no test required, it’s obvious. But individuals who are heterozygous for the particular genetic variation who won’t have the severe reaction and who drink have pretty high raised risks of some cancer. An example that I found in 5 secs at Huge Genopedia: Note that A allele (risk allele) conferred an overall OR for esophageal cancer of 3.05, but ONLY in drinkers, and this OR went up to 11.93 in heavy drinkers. Genopedia is a good source of “credible science” for each of the genes (and many others)

    Apart from that it misses the point anyway – the study would have shown how gene-environment interactions work, how the effect of certain genetic variations depends also on diet, lifestyle and behaviour. i.e. that most genetic variation does not have a deterministic effect – it’s not just the genes.

    It’s a pity that it didn’t go ahead, it would have been useful, the amount of mis-information and ignorance on genetics, environment and health demonstrate that

  • “the industry needs to grow up and accept some regulation”

    It is already regulated by CLIA.

    ” Making unsubstantiated medical claims is not kosher.”

    Those claims come directly from the literature. Would you like it if the FDA had “pre-publication review” of every comment you made, with no appeal or other journal to submit to?

  • I guess what I meant by, “grow up,” is that the industry should accept regulation that matches the industry’s ambitions in the marketplace. CLIA regulation is simply to ensure consistency and accuracy of the tests themselves. If the goal of the industry was to provide tests for doctors and hospitals, that would be adequate. Problem is the direct- to-consumer efforts that these companies have undertaken. Have you seen:

    This is the industry’s own fault for over-reach. 23andme’s approach of “get tested, it’s fun!” is not a problem and I don’t think anyone has an issue with that. “Get tested, it provides actionable information about your health!” Is a different story, and these companies have moved that way at their peril.

    “Those claims come directly from the literature.” The literature nowhere provides support that these tests would be useful for an individual. The current literature statistical associations that are close to meaningless when used in the context of an individual test.

    The science currently only clearly supports one business model for genomic testing: these tests would be extremely valuable for insurance companies to use in their risk modeling of the individuals they cover. For better or worse, this usage is not ethically acceptable right now, and GINA was passed specifically to outlaw this application.

    “Would you like it if…” Well, if I made bogus medical claims in my work, I’m sure I’d get a call from the FDA eventually. The FDA does not have jurisdiction over “every comment, with no appeal…” These companies certainly can appeal the FDA, but the sticky situation is that the basis of the FDA’s concerns are on the money.

    The FDA is an inefficient and clumsy bureaucracy and we all hate those. It’s also filled with professionals whose job it is to protect Americans from terrorist threats, contaminated foods and snake oil salesmen. These are good guys. Attributing nefarious intentions to a bunch of well-meaning federal nerds is not a productive enterprise.

    I do think there is an exciting way forward for this industry…but we need a bit more leg work before it all comes together.

  • > If the goal of the industry was to provide tests for doctors and hospitals, that would be adequate

    Tell the FDA, because they are now trying to regulate thousands of clinical labs without going through the NPRM process. The College of American Pathologists (CAP) is threatening a lawsuit in their filing and based on the ruling in Syncor vs. Shalala they will likely win.

    Regulation of LDTs Would Constitute a Substantive Rule
    CAP has been advised that, under the Administrative Procedure Act, an administrative agency must engage in notice-and-comment rulemaking in order to substantively alter a regulatory regime. See United States Telecom Ass’n v. FCC, 400 F.3d 29, 35 (D.C. Cir. 2005) (“[F]idelity to the rulemaking requirements of the APA bars courts from permitting agencies to avoid those requirements by calling a substantive regulatory change an interpretive rule.”); Appalachian Power Co. v. EPA, 208 F.3d 1015, 1024 (D.C. Cir. 2000) (a guidance document establishing a new regulatory regime constitutes a legislative rule for which notice-and-comment rulemaking is required); Alaska Prof. Hunters Ass’n, Inc. v. FAA, 177 F.3d 1030, 1034-35 (D.C. Cir. 1999) (holding FAA could not impose new requirements on hunters after more than thirty years of non- enforcement without providing opportunity to comment through rulemaking).
    The D.C. Circuit’s holding in Syncor Int’l Corp. v. Shalala, 127 F.3d 90, 95 (D.C. Cir. 1997) is particularly apposite here. In that case, the court held unlawful FDA’s use of guidance to regulate as drugs positron emission tomography (PET) radiopharmaceuticals after more than a decade of enforcement discretion by the Agency. Similar to its history with LDTs, FDA had “made a careful, considered decision not to exercise the full extent of its regulatory authority” but subsequently changed course based on changes in both technology and medical practice. According to the Court, “[t]he reasons FDA has advanced for its rule—advancement in PET technology, the expansion of procedures in which PET is used, and the unique nature of PET radiopharmaceuticals—are exactly the sorts of changes in fact and circumstance which notice and comment rulemaking is meant to inform.” Id.

    Although Dr. Shuren asserts that the comprehensive regulation of LDTs would not “impos[e] a new requirement” on the industry, it has been FDA’s policy “since the implementation of the Medical Device Amendments of 1976” to exercise “enforcement discretion” and not “actively regulate []” most LDTs. See 75 Fed. Reg. 34,463, 34,463 (June 17, 2010). Thus, as LDTs have developed over the past generation, they have generally not been subject to the statutory and regulatory requirements for medical devices. Now, however, FDA is reversing course and proposing to regulate all LDTs as medical devices. Many LDTs that previously were subject to no FDA requirements would be subject to premarket approval or clearance, Quality System Regulation, labeling, and adverse event reporting, among other requirements.

    FDA’s rationale for this sweeping change is that “LDTs are becoming more complex, [and] diagnostic tests are playing an increasingly important role in clinical decisionmaking and disease management, particularly in the context of personalized medicine.” Id. Contrary to the assertions of Dr. Shuren, these are “exactly the sorts of changes in fact and circumstance which notice and comment rulemaking is meant to inform.” Syncor Int’l Corp., 127 F.3d at 95.

    CAP is backed by a number of other organizations in this, including AMT, AMP, ACLA, ACP:

    Many of the comments submitted to FDA expressed concern about FDA’s use of guidance documents to effect such a significant regulatory change. See, e.g., Advanced Medical Technology Association, Comments to the Docket, FDA- 2006-D-0233, at 2 (Mar. 5, 2007) (asking how FDA “intend[s] to establish new regulatory requirements with a guidance document that by definition is not binding in nature”); Association for Molecular Pathology, Comments to the Docket, FDA- 2006-D-0233, at 2 (Mar. 2, 2007) (“AMP respectfully requests that . . . FDA convene a classification panel (e.g., as was done in the reclassification of immunohistochemistry tests) so that criteria for determining which tests will be subject to FDA regulation will be transparent to laboratories developing such tests.”); American Clinical Laboratory Association, Comments to the Docket, FDA- 2006-D-0233, at 1 (Feb. 8, 2007) (“ACLA recommends that FDA issue a proposed rule to address this important subject matter through the formal notice and comment rulemaking process rather than through sub-regulatory guidance.”); see also American Society for Clinical Laboratory Science, Comments to the Docket, FDA- 2006-D-0233, at 3 (Mar. 5, 2007) (expressing concern that, with the issuance of the draft guidance on IVDMIAs “there does not seem to be the same level of communication between the agency and stakeholders that we see in a rulemaking process”). These concerns are magnified here, as FDA seeks to regulate a much broader range of tests.

    With all due respect, Professor Tomasson, as a researcher rather than a clinical labs specialist it is very easy to call for “increased regulation” of a field you know nothing about.

  • @Michael T

    Most of the industry would like some form of regulation – 23andMe etc are reputable companies, they don’t want to be put in the same basket as many of the seriously basket case companies out there. The GAO “investigation” was terrible, that’s exactly what they did – they looked at 15 companies and made it clear that 4 of them were 23andMe, decode, pathway and navigenics, only reluctantly revealing another, Genewize (a real fraud according to GAO). For more on the GAO there is this GenomesUnzipped post ( and one I did (

    “CLIA regulation is simply to ensure consistency and accuracy of the tests themselves. If the goal of the industry was to provide tests for doctors and hospitals, that would be adequate.”

    I disagree with this part – the recent fuss over the premature commercialisation of the XMRV test in CFS patients is one example of why:

  • I will certainly chew this information over and educate myself on more of the clinical lab legal stuff. Great thread! JQAdams, if you would do me the favor of skipping the ad hominem comments, this could be even more productive.

    I’m on your side! The contribution I am trying to make is on the science side. My opinions here are my own, and mea culpa based on my own limited experiences. Perhaps I should shut up about regulatory issues I know little about. My point is that the industry has stuck its foot into areas I do know bit about–cancer genomics and clinical research. The personal genomics industry is trying to put lipstick on a pig and it is not working.

  • Sincere apologies for the tone, Professor, did not mean to offend.

    Pathologists around the country are up in arms about this, as you might guess.

    WUSTL does wonderful sequencing work and you are absolutely right that there has been overreach on health benefits, especially by outfits like Navigenics.

    The problem is that the FDA is breaking a butterfly on a wheel. They are not just going after DTC genetics, the health implications of which are debatable. They are asserting sweeping authority over tens of thousands of pathologists and clinical laboratory specialists, who collectively run millions of lab tests a year. The public discussion about Pathway Genomics and Walgreens is but the tip of the iceberg. The regulatory proposals are sweeping in scope and will end CLIA and CAP as we know them. You might go and talk to Dr. Luzzi down at CLCS and ask her whether WUSTL has the budget to take every lab test in her portfolio through 510(k) clearance, and if it will actually improve patient care when she cannot modify a single protocol. This is about non-scientists poking their heads into science, really on par with the Bush administration’s attempts to meddle in stem cells, and I say that with a heavy heart and full cognizance of the implications.

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