Regulation — The Solutions, or Adding to the Problem?
Should DTCgenetic testing be regulated?
One response might be that DTC consumers are adults who can be reasonably expected to take responsibility for their actions and who, in a liberal democratic State, are free to act autonomously without interference by the State except where that action places themselves or other actors at serious risk.
Adults may accordingly choose to waive protections that are potentially available under national or provincial privacy law. However this position does not adequately address the issue of children and other vulnerable people who may be tempted to participate in DTC genetic testing. The literature on DTC genetic testing does not feature accounts of minors providing genetic samples, and it is likely that such provision is minimised by the commercial basis of the services; minors are assumed not to have access to the credit card that is typically required by the testers.[639] However, it is notable that at least one prominent site displayed photos of teenage children, and referred to discussing your results with “your friends”, and utilisation of social networking devices for sharing of information.[640] Other client profiles include families who have had their minor children tested. It is difficult to imagine any compelling reason for undertaking DTC genetic testing that could not sensibly be delayed until the child was of a sufficient age to consent to testing for themselves, especially in light of the mandatory disclosure issues arising under insurance law.[641]After ignoring the issue of DTC genetic testing for years, the period since mid-2010 has seen a flurry of activity by regulators and policymakers, indicating that in their view, the answer to the question of regulation is a resounding “yes”. By proposing to distribute collection kits through a chain of pharmacies in the US, the sector forced the regulators to take a stand.
The results of that action will have, and have already had, profound impacts on the market.Shortly after Pathway Genomics and Walgreens' Drugstores announced their partnership, the FDA started sending letters to DTC genetic testing providers, both US and foreign-registered, stating that they had not approved DTC genetic tests as in vitro devices, and demanding they demonstrate why they didn't think their product met the requirements for in vitro devices requiring pre-market FDA approval.[642] This was accompanied by a round of congressional hearings on DTC genetic testing.[643]
While all of this was conducted with a great deal of fanfare and publicity, at least in the initial stages, there has been very little in the way of public engagement occurring recently. Behind the scenes there may have been quite a lot of negotiation between a resource-strapped regulator and the more credible providers of DTC genetic tests — certainly the recent crackdown has led to changes in the business models being employed in this market.[644] The Genetics and Public Policy Centre, of Johns Hopkins University, released an updated version of its list of DTC genetic testing providers in 2011, after the FDA commenced its enquiry into the industry. In the 2011 list, 20 companies providing tests directly to consumers were identified,[645] down from the 39 identified in the earlier 2008 version.[646] While neither list is exhaustive, it does indicate that, in the face of the current uncertainty facing the industry, some companies have either suspended doing business, gone out of business altogether, or changed their practices away from DTC marketing.
Psynomics is an example of the former.[647] Located in San Diego in the US, it marketed tests directly to consumers, targeting those with specific concerns around bipolar and their responsiveness to Selective Serotonin Reuptake Inhibitors (SSRIs), a class of commonly-prescribed antidepressants.
The tests provided, Psynome and Psynome 2, claimed to test for mutations in the region associated with G protein receptor kinase 3, and mutations in the promoter of the L-allele of the serotonin transporter gene, respectively. Unfortunately, the data these tests are presumably based on is extremely preliminary. While it identifies these areas as candidate regions, neither the material released on the Psynomics website nor within the peer reviewed medical literature indicates that the association has been established to a clinically valid standard.[648] As this company is specifically targeting customers who may have, or at the very least are concerned that they may have, a significant mental illness, thisraises a number of ethical and clinical concerns. One of the gravest is the potential for consumers who have been prescribed SSRIs to stop taking them without medical supervision, in reliance on the results of as-yet unsubstantiated genetic tests. According to the Psynomics website, the company is not accepting orders for testing at the present time.
The company whose actions triggered the FDA enquiry by its decision to sell collection kits directly to consumers through pharmacies, Pathway Genomics, is one that has significantly changed its business model since mid-2010. Whereas it was previously engaged in a bold strategy to broaden its consumer marketing, it now provides testing only via a physician intermediary. A doctor must register a client for a test, and the results of the client’s tests are sent to the doctor, not the patient.[649] This is a far cry from the ambitious earlier model where any bored consumer could walk in off the street and order a test, with no guarantee they would be able to understand the results.
Navigenics, which triggered Australia’s brief flurry of mainstream publicity on DTC genetic testing with its plan to offer policyholders of health insurer NIB discounted rates on their Compass testing program, has recently been acquired by Life Technologies, and is no longer accepting test orders.[650] Since its acquisition, it is unclear what business model the new owners intend to implement; however it seems unlikely that it will embrace DTC marketing in the same way the original company did.
Two of the remaining high-profile broad-based screening providers, DeCODE and 23andMe, appear to be retaining their DTC models of marketing in the face of the FDA’s interest. DeCODE is located in Reykjavik, Iceland; presumably it expects to avoid some of the consequences of regulation on the basis that it is outside the US, but markets primarily to clients in the US, thereby minimising the impact of both US and EU regulation on the basis of regulatory arbitrage. DeCODE has had a somewhat chequered past. It filed for bankruptcy in the US in November 2009, but after a restructure and partial sale in early 2010,[651] remains a provider of DTC genetic testing services. It is continuing to market broad based tests claiming to screen for 47 conditions, as well as more specific tests focused on particular diseases. The DeCODE Scan retails for US$1100; the terms and conditions page focuses specifically on applicable laws in US states.[652] Notably, when the FDA first sent out letters to DTC providers demanding that they demonstrate why their products did not require FDA approval, DeCODE was included in the first raft, indicating that the FDA does not think they are outside the FDA’s regulatory jurisdiction.[653]
23andMe is located in California. One of its founders, Anne Wojcicki, is the wife of Google founder, Sergey Brin, who has financed some of the company’s projects. Historically, it has tended to capitalise on its high profile, engaging extensively with the media to promote itself through activities such as “spit parties” at New York’s fashion week. Like DeCODE, 23andMe offers broad-based tests examining some 244 disease risk factors and characteristics, at US$299. Unlike DeCODE, 23andMe appears to be planning to conform with the FDA’s proposed regulatory framework, albeit somewhat reluctantly, recently announcing that it had applied for FDA approval for seven of its tests, and planned to lodge applications for approval of more in future.[654] This in itself is somewhat curious — nowhere have the authors been able to find any public documentation of a “grace” period being offered to 23andMe to give them time to become compliant with the regulatory requirements, and yet they are continuing to market their tests, in spite of the fact that none currently have regulatory approval.
Normally, one would expect a regulatory authority such as the FDA to force them to suspend their business, at the very least, or face some form of sanction, however there appears to be no sign of this occurring.In Australia, regulators are grappling with a somewhat different problem to that facing the FDA. While the FDA can pursue providers of tests within its jurisdiction supported by the weight of market size, the Australian market isn’t really large enough to provide any threatened sanctions with much bite. That most DTC providers specifically target the US market is evident from their privacy statements and pricing policies; Australian legal provisions don’t even rate a mention. Therefore, the US regulators can, presumably, threaten to bar providers from the US target market if they refuse to comply, a threat that would be far emptier coming from Australian regulators.
Deprived of this perceived “stick”, Australian regulators have apparently instead opted for prohibition. Under the framework established by the TGA in 2011 in response to the Global Harmonisation Task Force, the TGA claims that in vitro diagnostic devices for self-testing or in-home use, without the supervision of a healthcare provider, will be among those it regulates as a result of its broadened scope of regulation. It specifically notes that “tests to determine genetic traits; (and) IVDs used to test for serious disorders, for example cancer or myocardial infarction” will be among those prohibited from supply.[655] DTC genetic tests are done at home, without the supervision of a healthcare provider; presumably it is exactly this type of test that the TGA intended to prohibit under its new framework.
While this prohibition may appear to make the problem simply go away, it will actually have minimal effect on the access of Australian consumers to DTC in the absence of other provisions. DTC is marketed primarily over the internet, via international sites. As these are outside the regulatory scope of the TGA, there is nothing they can do to prevent them being used by Australian consumers, or to regulate the claims and information being provided to consumers on these sites.