Germany Struggles to Find Balance in Promoting, Regulating Genetic Technologies
Last fall we reported on the passage of the Human Genetic Examination Act by the German Bundestag. We characterized the Gendiagnostikgesetz (GenDG), as the act is known in Germany, as “a clear example of what is known as ‘genetic exceptionalism’—the belief that genetic information is qualitatively different from other forms of personal or medical information—staking out a position near the paternalistic end of genetic regulation.”
The GenDG (pdf) took effect early this year and, until recently, little news of its impact on German law, policy or business has made its way across the Atlantic. Last week, however, several prestigious German scientific academies released a report entitled “Predictive Genetic Diagnostics as an Instrument of Disease Prevention.” The “Academy Group,” as the report’s authors refer to themselves, consists of the Leopoldina, the Berlin-Brandenburg Academy of Sciences and Humanities and the German Academy of Science and Engineering Acatech. Astoundingly, according to a recent editorial in the journal Nature, the report is the first from the group in its 350 year existence.
While the Academy Group’s report “discusses all aspects of genetic testing of healthy individuals to prevent disease, including the medical, ethical, economic and legal dimensions of the issue,” it takes particular issue with the GenDG. In a press release announcing its report, the Academy Group characterized the GenDG as “out of touch with the latest technology, almost impossible to implement in clinical practice” and “in desperate need of amendment.” The complete report (pdf) is available only in German, but the Academy Group’s summary and twenty-two recommendations (pdf) addressing both genetic testing and the GenDG specifically are available in English.
Reviewing the Recommendations. The Academy Group’s recommendations are informed by a fundamental belief that genetic testing should be focused on helping people “to remain healthy, to regain their health or, at least, to alleviate the consequences of illness.” Although the Academy Group briefly notes, later, that genetic testing “can be advantageous for the life planning of a person,” the clear focus is on clinical utility. Apart from genetic research, no meaningful value is ascribed to other uses of genetic testing and data that appear to have gained much more traction in the United States, the United Kingdom and elsewhere, including ancestry testing, self-experimentation and testing for medical conditions that possess personal utility even if they do not rise to the level of current clinical utility.
An Excess of Information. Another theme that runs through the Academy Group’s recommendations is a concern about an “excess of genetic information” generated by the increasing proliferation of genetic testing and, in particular, whole-genome sequencing. Although some may consider there to be no such thing as too much genomic data, the group’s concern is at least consistent with its core belief that genetic data is valuable solely to the extent of its clinical utility. Given that certain genetic data is acknowledged to be of limited clinical value for many individuals, at least as of today, the Academy Group sees such “excesses” as likely.
Despite its underlying concern about excess genetic data, the Academy Group clearly thinks the GenDG’s nearly complete prohibition on the long-term storage of genetic information takes things a step too far. The problem lies with §12 of the GenDG which requires, with very limited exceptions, the “immediate” destruction of genetic information after 10 years. The Academy Group’s recommendations encourage the GenDG to “take into account the aspects of long-term storage and subsequent analysis of the excess of genetic information” and, if adopted, would specifically remove the flat prohibition on storage of genetic information beyond a decade.
The group’s primary recommendation is reasonable: individuals should be allowed to decide, in conjunction with an appropriate healthcare provider, whether to (a) use such excess information in a specific manner (although no examples are provided), (b) destroy the information or (c) “save [it] for the time being in an unused state.” This would, in effect, allow the individual and her healthcare provider to determine what constitutes “excess of genetic information”, rather than continue the GenDG’s approach of statutorily determining non-clinical genetic data to be excess and thus not valuable.
However, the Academy Group’s recommendation extends only to individuals competent to make such a decision. Children or temporarily incompetent adults should not, according to the Academy Group, be given the option to use or seek to interpret any excess genetic information “because this would take the option of ignorance away from the examined person.” The Academy Group recommends that the information be “saved in a restricted form” until “competency is bestowed”—in the case of a child, at her 18th birthday party—at which point the individual would be allowed to decide for herself.
While the Academy Group’s recommendation with respect to genetic testing of children is more permissive than what appears to be allowed under the current GenDG framework, it is still at odds with practices in other countries where the genetic testing of minors for non-clinical purposes is not expressly prohibited.
Genetic Screening and Unintended Consequences. Several other Academy Group recommendations concern genetic screening at various stages, from preconception (carrier testing) to prenatal to postnatal (newborn screening). The recommendations are consistent with the fundamental approach of requiring testing to be related to medical treatment. This leads to the curious consequence of recommending limitations on testing of an unborn child but, once the child is born, encouraging genetic testing.
While the Academy Group recognizes that “healthy people or couples can be interested in finding out whether they are genetic carriers of any recessive hereditary disease…to assess the health risk of their own child,” the group believes that such carrier screening is not yet ready for widespread medical or commercial use. The group recommends:
For the time being, systematic heterozygote examinations with regard to the health risks for the children of the examined people should only be carried out as part of research projects. They should be embedded in secondary medical, ethical and social research in order to gain experience about the personal and social effects.
While numerous carrier screening providers offer services outside of Germany—both directly to consumers and through licensed healthcare providers—the Academy Group appears to have no interest in seeing Germany following suit.
The group’s recommendation, if adopted, could have the unintended consequence of promoting a new form of “medical tourism,” with some German couples taking a quick trip abroad (e.g., to the United Kingdom) for preconception carrier testing.
When the Academy Group turns to testing of newborns, it is critical of provisions of the GenDG that have the effect of discouraging or interfering with such testing:
The Gendiagnostikgesetz considers the newborn screening as a genetic survey. Accordingly, since the Gendiagnostikgesetz came into force, the parents must be provided with a genetic consultation before blood is taken. Baby nurses and midwives, who previously took the blood, are no longer allowed to do this on their own responsibility. There are already indications that this is leading to the newborn screening not being carried out for some newborn babies. This can lead to life-long disability, which could have been avoided with early diagnosis and appropriate treatment.
The Academy Group’s recommendation in response is sensible: the GenDG “should regulate the newborn screening separately” and, presumably, in a fashion that does not hinder the practice from occurring routinely.
Conflicting Duties. A consequence of the GenDG’s extremely patient-centered and protective approach to genetic testing is that, according to the Academy Group, “without exception” the GenDG “considers confidentiality for patients to be of a higher significance than the medical fiduciary duty towards relatives that have a high risk of developing” a genetic condition. Under the GenDG, doctors are strictly prohibited from discussing genetic information with a relative, even where doing so might have significant clinical utility.
The Academy Group recommends a change in the weighting of these competing duties, saying that “in cases of clear medical benefits” doctors be permitted to balance the importance of individual genetic privacy enshrined in the GenDG against the clinical utility of genetic information to an individual’s relatives. Interestingly, the Academy Group does not propose—as it does elsewhere—a specific modification to the GenDG to enable this exercise of physician discretion, and it remains unclear whether following the group’s recommendation would leave doctors on the wrong side of current law.
The difficulty of balancing the competing duties of individual confidentiality, particularly in the context of genetic information, and the broader utility of genetic information, particularly for an individual’s close relatives, is not a problem unique to Germany or the GenDG. The United Kingdom’s General Medical Council addressed this exact issue last year and reached a conclusion similar to that of Germany’s Academy Group. As this issue continues to show up in a variety of contexts, policymakers—and especially doctors—are likely to continue to struggle to strike the proper balance.
Direct-to-Consumer Testing. Unsurprisingly, the Academy Group’s recommendations also tackle the topic of direct-to-consumer (DTC) genetic testing, which remains one of the most hotly contested areas of genetic testing regulation and policy as we head into 2011.
As we noted last year, the GenDG arguably already prohibits all DTC genetic testing. Nevertheless, the Academy Group expresses concern about the “uncertain scientific basis” of DTC tests, as well as with the possibility of surreptitious testing. Seeking to make the GenDG’s likely DTC ban explicit, and consistent with the Academy Group’s emphasis on clinical utility in genetic testing, the group recommends that DTC tests “not be permitted because they do not fulfill the requirements of medical and ethically acceptable predictive genetic diagnostics.” (The Academy Group also offers a separate recommendation banning all DTC advertising for genetic tests.)
The unfavorable outlook of legislators and policymakers toward DTC genetic testing is hardly restricted to Germany. In the United States, a report issued by the Government Accountability Office (GAO) over the summer was sharply critical of DTC genetic tests—although critics of the GAO report’s methodology and conclusions abound—and the Food and Drug Administration (FDA) is preparing to regulate all laboratory developed tests (LDTs), including DTC genetic tests. (For a more complete overview see The Past, Present and Future of DTC Genetic Testing Regulation.)
A Global Perspective. Finally, the Academy Group exhibits at least a partial recognition that Germany’s approach to genetic testing may not be perfectly aligned with the rest of the world.
The Academy Group’s sixth recommendation acknowledges that German laboratories often receive samples from abroad and, were the GenDG to be strictly applied, it might operate to significantly curtail the foreign business of German companies in light of the substantial consenting requirements imposed by the GenDG (among its other provisions). In recognition of this issue, the Academy Group recommends that:
The genetic analysis of a sample acquired abroad by a German laboratory should be acceptable if the doctor that has sent the sample confirms that the person concerned has been provided with information about the being, scope and significance of the genetic examination in accordance with the legal regulations in the sample’s country of origin and the person concerned has subsequently granted his consent.
Quite sensibly, the recommendation appears to permit German laboratories to process samples for diagnostic testing if the submitting doctor verifies that the sample is being sent in compliance with the laws of the sample’s country of origin.
Note, however, that other restrictions imposed by the GenDG appear to remain in place. Given the broad limitations the GenDG imposes on genetic testing products and services, including on both the circumstances in which testing may occur and the type of analyses which may be conducted, it seems likely that, even if this particular recommendation is adopted, German laboratories and genetic testing providers will struggle to offer the same suite of products as their international competitors. If the Academy Group’s aim is to ensure that German laboratories remain competitive at the global level, its recommendations will likely need to be broadened.1
Other Recommendations. The remainder of the Academy Group’s recommendations echo those made by the vast majority of policy groups to review the issues surrounding the development and adoption of genetic testing. These include a need for (a) more research into the genetic bases of complex traits and the cost-effectiveness of existing technologies and services, (b) more specialists in human genetics and more effective training in genetics for existing medical professionals, (c) a renewed focus on translational research and (d) improved public and educational outreach concerning the “possibilities and limits of genetic medicine.” All of these goals are laudable and, at this point, none are surprising.
What’s Next for Germany? It remains to be seen whether some or all of the Academy Group’s recommendations will be adopted by German lawmakers. Of particular interest are those recommendations that require, explicitly or implicitly, revisions to Germany’s just-passed GenDG legislation.
However, even if all of the group’s recommendations are adopted, GenDG will continue to stand as one of the most restrictive and, yes, paternalistic pieces of genetic legislation passed by any country to date. As other countries continue to grapple with how to appropriately regulate genetic technologies, including genetic diagnostic products, Germany’s experience with the GenDG may serve as a test case for one approach.
1 We are unaware of the effect, if any, that the GenDG is currently having on German biotechnology companies, entrepreneurs and investors, but would welcome feedback from our readers on this point.