Why the Errors of the Human Provenance Project Will Echo Beyond the U.K.’s Borders

barbed wireScienceInsider has posted several pieces this morning describing and critiquing the U.K. Border Agency’s Human Provenance pilot project:

Scientists are greeting with surprise and dismay a project to use DNA and isotope analysis of tissue from asylum seekers to evaluate their nationality and help decide who can enter the United Kingdom. “Horrifying,” “naïve,” and “flawed” are among the adjectives geneticists and isotope specialists have used to describe the “Human Provenance pilot project,” launched quietly in mid-September by the U.K. Border Agency. Their consensus: The project is not scientifically valid—or even sensible.

In addition to the feature article, ScienceInsider has also published a FAQ describing what is now known about the program as well as links to the underlying documents and expanded reactions from leading geneticists and isotope specialists.

The project is, as the name indicates, a pilot project, and one spokesperson described it as being “in its baby stages.” Still, as reported by ScienceInsider, the scientific community’s reaction to the program appears to be swift, unanimous and extraordinarily critical. Daniel MacArthur of Genetic Future has a slightly more measured take, expressing skepticism about the ability of the government agency to identify precisely an individual’s geographic ancestry based on genomic data and rightly pointing out that the “crucial issue is that it must be shown that the data are used in appropriate ways, and not given undue weight in making serious decisions about a person’s future.” That’s an issue that cannot be resolved until the Border Agency provides additional details on both its scientific methods and its utilization of the collected DNA and isotope data.

The near-uniform scientific skepticism that has greeted the announcement of the Human Provenance project suggests that we should not be surprised to see the pilot project substantially revised, or even scrapped altogether. But has damage already been done?

The issues of granting political asylum and the use of genomic data are both politically and socially delicate. So it is especially unfortunate when such hot-button policy issues arise in the context of a project that is scientifically so questionable. If those were the only dynamics at play the Human Provenance project would likely generate outsized social and media commentary, and quite possibly a significant legislative or regulatory response. But the timing is such that this development comes at a crucial moment for the field of genomics. At present, a delicate balance exists between genomic science—including the emerging fields of DTC genomics and personalized medicine—and the developing legislative and policy framework that will guide and govern the development and application of that science. And with so much genomic science and policy yet to be written, even minor developments produce outsized effects, which makes the potential consequences of the Border Agency’s project so worrisome.

To illustrate this point consider an editorial published this month in the journal Nature Biotechnology which argues that a greater balance is needed in the policy discussion surrounding the use and availability of genomic data; one that acknowledges the benefits and societal importance of such data alongside its inherent risks:

On its own, the sequence of letters in a human genome is uninformative. Its power for good arises only from associations with medical histories, behavioral characteristics, physical descriptions and environmental influences. Likewise, its capacity for ill derives only from the genome’s potential for providing pointers to human qualities that serve as the basis for discrimination and defamation already prevalent in our societies—sex and sexual orientation, societally defined ‘race’, age, physical and mental health, aptitude or suitability for athleticism or employment, and eligibility for health, disability and life insurance.

No one doubts that there are risks. But thus far discussion of the risks has dominated the debate over the use of DNA data. It is time for the debate to refocus on the benefits of data availability.

The question that should be asked is not “How can things go wrong and how can we prevent that?” [Answer: “in a myriad of ways” and “only with a great deal of contortion”] but “What is a necessary goal and how can we achieve it?”

To the list of iniquitous uses we may now add “national origin.” By appropriating genomic technologies in a questionable attempt at border control, the Human Provenance project has shifted the conversation from a prospective discussion of risk avoidance and mitigation to a present debate over whether the Border Agency’s use of genomic and isotope data analysis is ethically or legally appropriate, let alone scientifically valid.

On the one hand, actual misuses of genomic data provide an important reminder that the risks associated with that data are not always hypothetical. Informed consent agreements, for example, often provide detailed lists of potential risks that attach to genomic data, but for seriously considering such risks there is likely no substitute for seeing the data actually misused.

At the same time, there is real reason to worry that highly publicized controversial uses of genomic data will result in reactionary and protective legal, regulatory or policy responses, quite possibly to the detriment of clearly legitimate uses of genomic data. Moreover, programs such as the Human Provenance project serve to refocus the discussion of genomic data policy away from the benefits of data availability—or at least the balanced “discussion of the risks to an individual with discussion of how an individual might benefit” that the Nature Biotechnology editorial proposes—to a discussion focused solely on the risks and dangers.

From the Genetic Information Nondiscrimination Act (GINA) in the United States to the EU’s Directive 95/46/EC on data protection to Germany’s recently enacted Human Genetic Examination Act, where governments have tackled the issue of genomic data availability and usage, the results to date have typically been restrictive and proscriptive. This is a trend that, if allowed to proceed unchecked, threatens the future of genomic research and one which many scientists and policymakers vigorously oppose.

Which is why it is so surprising and disappointing to see the United Kingdom—the same country whose House of Lords delivered, mere months ago, a potentially seminal report on genomic medicine that advocated patience, improved educational initiatives and a wait-and-see regulatory approach to many aspects of genomic data use and research (including with respect to DTC genetic testing regulation and genetic discrimination)—jump the gun with a project as misguided and unscientific as the Human Provenance program.

As the Nature Biotechnology editorial concludes, “when it comes to exploring the basis of being human and moving toward the goal of genomic medicine, society needs to do more to provide personal incentives to those who choose to disclose their data, despite the risks.” A worthy and much needed call. But by evidencing such a lack of understanding of or respect for genomic data, the Human Provenance program thrusts the risks of genomic data—particularly its misuse by those in positions of authority—back into the spotlight and casts a deep shadow over the substantial benefits of improving genomic data availability.

The coming weeks will likely see further focus on the details of the Human Provenance pilot project, and we hope that the project is quickly brought in line with scientific realities and rendered consistent with important ethical, legal and social principles. But over the longer term we hope that in responding to this unfortunate example of genomic data usage, legislators hold in check their tendencies toward paternalism and genetic exceptionalism and that law- and policy-makers continue to advance a pragmatic and measured discussion that recognizes equally both the risks and benefits of genomic data availability and that leaves open a path for genomic research and personalized medicine to move forward.

Filed under: Genetic Testing/Screening, Genomic Policymaking, Genomics & Society, International Developments, International News
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