Consumer Genetics Needs More Transparency, Not Excessive Regulation


Xconomy National — 

[Editor’s Note: Daniel MacArthur, a researcher at the Wellcome Trust Sanger Institute in Cambridge, UK, and the author of Genetic Future, co-wrote this post.]

Are you ready for consumer genetics? Is your government?

Recent announcements of federal investigations into the budding direct-to-consumer (DTC) genetic testing industry suggest that authorities are preparing to increase regulation of companies offering consumers access to their own genetic data. However, rather than rushing in to clamp down on the industry, regulators should slow down and focus, first, on understanding this complex field.

An increasing number of individuals are exploring their genetic information using tests purchased directly over the Internet. For between $100 and $1,000 consumers can purchase a saliva collection tube, spit in the tube, and mail it back to the company. A few weeks later the results are available online. One DTC genetics company, 23andMe, recently announced that it had provided its test to over 30,000 customers.

Genetic tests can provide the consumer with personalized information ranging from eye color, to ancestry, to risk of common diseases such as diabetes. Many companies include all of these traits and more in a single product examining hundreds of thousands of genetic markers. For the moment, these tests are available to anybody with a computer and a sense of curiosity. But that could all change.

Regulators Take Note

Over the past month, both the FDA and Congress have launched independent investigations into the DTC genetic testing industry. Both have sent letters to a number of prominent DTC companies and, last week, the FDA announced its intent to bring sweeping regulatory changes to the entire genetic testing industry. Countless biotechnology companies and investors are now watching and waiting to see what the FDA will do next, beginning with a public meeting next month in Washington, D.C. where the agency will begin to outline its new regulatory vision for genetic tests.

Daniel MacArthur

Daniel MacArthur

The proximate trigger for this flurry of regulatory activity was an announcement last month by San Diego-based DTC company Pathway Genomics that it would be offering its products on the shelves of pharmacy giant Walgreens. The initial controversy created by the Pathway announcement soon gave way to a broader debate centered on how to make genetic information—in particular genetic information relating to complex and serious medical conditions, such as cancer or Alzheimer’s disease—available to patients and consumers.

At present, most DTC genetic tests are not regulated at the federal level, although the labs in which testing is carried out are required to meet federal quality standards to ensure their accuracy. Critics of DTC testing argue that the safety and efficacy of these tests has not been demonstrated, and that the potential risks—such as consumers making ill-advised lifestyle decisions based on genetic misinformation—mean that individuals should have access to their own genome only under the direct supervision of a physician or genetic counselor. Such critics support increased federal regulation of DTC genetic tests, particularly by the FDA.

Proponents of DTC genetic testing, on the other hand, believe that individuals have a right to explore their own genetic information without needing the permission of their doctor, and contend that tight FDA regulation would unnecessarily restrict individuals’ access to their own genetic information in advance of conclusive data that these tests present a real risk of harm to consumers. Supporters argue that DTC testing companies are a rich source of much-needed innovation in key areas important to the development of personalized genetic medicine, especially through the presentation of complex genetic data to non-experts. There’s little doubt that excessive regulation would have a stifling effect on this innovation.

A Transparent Solution

So which group is correct, and what should regulators do? One might argue that it all depends on the test. For example, a DTC product that examines one’s genetic ancestry poses no clear health threat in need of regulation. Indeed, this is consistent with the FDA’s proposed “risk-based” regulation of genetic tests.

However, as consumer genetic tests continue to increase in scale and sophistication—extending towards complete genome sequencing—they will offer individuals an increasingly broad overview of their genetic makeup, including information on a range of conditions that cover the entire spectrum from eye color to early-onset Alzheimer’s disease. More importantly, the level of risk created by these tests will depend to a large degree on how consumers choose to use the information the tests provide.

Creating coherent distinctions between genetic tests based on their degree of risk will require a much more nuanced understanding of the tests and how they are used. While this information might be acquired through traditional regulatory channels, an option the FDA appears to be strongly considering, this would likely come at a cost: dampening crucial innovation in an emerging field, by imposing time-consuming and costly regulatory burdens on genetic test providers.

Fortunately, there is a much easier way to gather the information necessary to responsibly review and, ultimately, to regulate genetic tests. Our solution can be summarized in a single word: transparency.

Today’s DTC genetic testing marketplace is difficult for consumers, medical professionals and regulators alike to navigate. At this point we simply do not know enough about the products on the market: who is selling DTC genetic tests, exactly what those companies are testing for, how they use genetic information to calculate the probability of a particular trait or disease, and how they are presenting that information to consumers. We know even less about how consumers are actually using that information.

The answer to this uncertainty is not to remove these genetic tests from the market or to take them out of the hands of consumers. What is needed now—by regulators, doctors and consumers alike—is better information. Better information, in turn, is a function of increased transparency.

The National Institutes of Health recently announced the creation of a voluntary genetic testing registry to provide a single, comprehensive source of information about genetic tests, including DTC genetic tests. This is a welcome development, but its voluntary nature means that not all genetic test providers are likely to participate. As the FDA and Congress consider how to respond to the burgeoning genetic testing industry, the most sensible course of action is to refrain from premature regulation and focus first on acquiring better data.

Extending the reach of the registry by making participation mandatory for all companies offering genetic testing, including companies offering DTC genetic tests, will do just that. A mandatory, government-run registry will enable consumers, patients, doctors and regulators to directly compare and evaluate products. Importantly, it will also allow both public and private consumer protection groups, including the FTC, to police the field, weeding out companies that fail to register their tests or whose tests do not live up to their claims. Longer-term, the information accumulated by the genetic testing registry will help the FDA and other regulatory bodies understand how these tests are used and the degree of risk, if any, that they present to consumers, enabling the development of appropriately tailored regulations down the road.

Transparency may not be a dramatic solution, but now is not the time for drama. If our ultimate goal is protection, not paternalism, we need to find a way to preserve direct access by consumers to their own genetic information, while ensuring that consumers are fully aware of the limitations of that information. We should achieve this not by placing genetic testing under regulatory lock and key, but by shining a bright light through the entire industry and demanding greater transparency.

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15 responses to “Consumer Genetics Needs More Transparency, Not Excessive Regulation”

  1. Ian says:

    Whether it’s transparency or regulation the DTC genomic data needs to be more fully disclosed publicly. It is fairly well understood amongst genetic researchers that the vast majority of SNP data accounts for a fraction of the total genetic variability of any given person with regards to complex disease let alone treatment options for said patients. Furthermore, the SNP data is non-adative so it is difficult to combine the various alleles into an aggregate risk/prognosis etc.

    There are however, other more directed technologies (e.g. that can combine the massive amounts of molecular information within say tumors into an aggregate prognosis or likelihood of response to therapy.

    My primary worry with DTC genomic data is that it will poison the well for consumers and medical practitioners to the use of personalized medicine since those technologies will (at this juncture) provide little data to the actual health outcomes of patients.

  2. Jill says:

    Could you elaborate on what is meant with regards to the FDA “dampening crucial innovation in an emerging field, by imposing time-consuming and costly regulatory burdens on genetic test providers”, especially for those of us who are not very familiar with the regulatory realm?

  3. Naomi says:

    I don’t think paternalism is the goal of regulation on DTC genetic testing. No one wants to tell individuals whether or not to access their own genetic information. However, no one should access their own genetic information without understanding clearly what that information means to them. Uneducated misinterpretation can result in disastrous consequences for people’s health. Additionally, this information not only reveals health information about the test-taker but also about the test-taker’s blood-related relatives. It is important that those consumers consider this information prior to taking the test. Once the results are known, you can’t take them back.

  4. It is pretty typical that the government wants to regulate something that people should have access to in the first place.

    Knowing ones genetic make up can see if they might be prone to some illness that they might not have thought otherwise. Or maybe even give them a glimpse into their genetic background; a glimpse of who their ancestors were.

    What a shame.