For nearly three decades, academics have toyed with the question of copyright protection for recombinant DNA sequences. Recent interest in synthetic biology has prompted a resurgence of such dubious speculation. But current advocates of DNA copyright have gone further than academic conjecture, attempting to register nucleotide sequences with the United States Copyright Office. Not surprisingly, the Register of Copyrights refused the application, setting the stage for a possible appeal to federal court. This scenario raises the general administrative law question as to the degree of deference a court should give to a registration decision of the Copyright Office. The issue is surprisingly complex, and precedents are sparse. In this paper I take up the question of administrative deference as it applies to synthetic biology and other technologies that could be the subjects of questionable copyright registration.'Regulatory controls for direct-to-consumer genetic tests: a case study on how the FDA exercised its authority' by Margaret Curnutte in (2017) 36(3) New Genetics and Society 209-226 comments
In February 2015, 23andMe received clearance from the United States Food and Drug Administration (FDA) for a carrier status test for a gene linked to Bloom syndrome. This was the first FDA authorization to market a direct-to-consumer (DTC) genetic test. Then, in April 2017, 23andMe obtained marketing clearance for an additional 10 tests that communicate information about individual disease risk. For roughly a decade it had been unclear whether FDA would regulate health-related DTC genetic tests. The recent approvals now provide an opportunity to examine how the Agency, in practice, has exercised its regulatory authority. This paper is the first case study to examine in detail how FDA has set standards for the marketing approval of DTC genetic tests.'Valley of the unicorns: consumer genomics, venture capital and digital disruption' by Stuart Hogarth at 250-272 in the same issue comments
Drawing on the sociology of expectations and sociology of conventions, this paper explores issues of worth and value in the bioeconomy, and the promissory character of contemporary capitalism. Arguing that the literature on biocapital has paid insufficient attention to geographical differentiation in capital accumulation strategies, this paper situates the consumer genomics firm 23andme in the entrepreneurial culture of Silicon Valley. The paper suggests that in Silicon Valley the relationship between moral worth and economic value is mediated through the concept of disruptive innovation, which functions as both ideological construct and a set of commercial practices utilized by the founders of start-up firms and the venture capitalists who invest in them. Analyzing 23andme’s status as a “unicorn” firm, the paper describes how the recent increase in private investment capital in Silicon Valley has led to a new model of business development for start-ups and considers its implications for corporate governance.Hogarth argues
In 2007, the Silicon Valley consumer genomics firm 23andme launched with a bold mission to revolutionize healthcare and biomedical research. From the outset the firm’s ambitions were global in scale: co-founder Anne Wojcicki declared that 23andme aimed to become “the world’s trusted source of personal genetic information” (23andme 2008). These grand ambitions were underpinned by investment funding from leading players in Silicon Valley, each of them global leaders in their respective sectors: the venture capital (VC) firm New Enterprise Associates, the biopharmaceutical firm Genentech, and the Internet search firm Google. Like other start-up firms (including its rivals in the nascent consumer genomics market), 23andme was heavily dependent on continued injections of private capital as it sought to build a market for its products and services, and measured by the amount of private capital the firm has raised, 23andme has been highly successful. It raised $240M in a series of five financing rounds between 2007 and 2015 (see Figure 1), and by 2015 had achieved “unicorn” status, a term used to describe privately held firms valued at over $1 Billion. To put this achievement in perspective, of the 22 diagnostics firms listed on the NASDAQ only two raised more than $100M when they floated as public companies, that is, 23andme has raised more money in the private capital markets than its counterparts have been able to raise by going public.
This financial success was achieved despite longstanding uncertainty about the firm’s commercial viability, public controversy about the ethics of consumer genomics, professional critique of the scientific validity of genetic risk scores offered by the firm and its rivals (Mihaescu et al. 2009 ), and then regulatory censure by the US Government. The US Food and Drug Administration (FDA) closed down the health-related aspects of 23andme’s business in 2013 (see Curnutte 2017 ). Two years later, when the FDA took regulatory action against Theranos, another high-profile Silicon Valley diagnostics firm, some media commentators suggested that the regulatory problems encountered by the two firms exemplified a broader crisis in the corporate culture of Silicon Valley. These critics pointed to failures in corporate governance, media complicity in promotional hype and a lack of due diligence on the part of investors, all fueling a dangerous new investment bubble underpinned by the ideology of disruptive innovation (McDermid 2016 ).
How to explain 23andme’s success in attracting financial investment despite the seemingly toxic combination of commercial underperformance and regulatory scandal? Given the importance of personal networks in securing VC finance, it was helpful that 23andme was, from the outset, enmeshed in the Silicon Valley establishment, most notably through co-founder (and current CEO) Anne Wojcicki’s marriage to Sergey Brin, the co-founder of Google. Google invested $3.9M in Series A and then $2.6M in Series B, but in addition Brin provided a start-up loan of $2.6M ahead of the Series A round, and a further $10M ahead of the Series B financing round (Rao 2009 ). However, the power of personal networks is not the focus of this paper, which is concerned instead with issues of worth and value in the bioeconomy, and what Paul Martin (2015 Martin,) has called “the promissory character of contemporary capitalism”. This paper suggests that in Silicon Valley the relationship between moral worth and economic value is mediated through the concept of disruptive innovation, which functions as both ideological construct and a set of commercial practices utilized by the founders of start-up firms and the venture capitalists who invest in them.
In addressing matters of political economy, this paper takes an approach hitherto neglected in the literature on consumer genomics, a puzzling oversight given that in recent years a growing body of scholarly work has argued that the emergence of commercial biotechnology has generated a new form of capitalism: biocapitalism (for an overview of this literature, see Helmreich 2008 ). Attempts to characterize a distinct form of biocapital are consistent with a long tradition of middle-range theory in political economy that addresses the “specific forms and mediations of capitalist processes, such as the nature of institutions, or new forms of organization such as post-Fordism” (Sayer 1995). This paper offers two original contributions to the scholarship on biocapital. Firstly, by suggesting that as an attempt to understand sectoral differentiation, this literature has been too ready to generalize using data on the biotech therapeutics sector and has failed to understand the distinctive dynamics of the diagnostics sector. However, its more substantive contribution is to argue for a greater focus on geographical rather than sectoral differentiation (Sheppard 2013 ). I locate 23andme in its geographical setting of Silicon Valley, identifying the ways in which firm might be characterized as typical of the distinctive local culture of entrepreneurialism that has developed in the area since the 1980s.
I begin by situating this paper’s conceptual framework in the broader social science literature about the bioeconomy. By way of descriptive context, I then outline the role of VC in the financing of high-technology start-ups, the growth of Silicon Valley as a geographic cluster for high-tech firms and the key features of Silicon Valley disruption. I then move on to describe how 23andme modeled itself as a disruptive firm and to discuss how that strategy may have helped attract investment funding.''Reading the fine print when buying your genetic self online: direct-to-consumer genetic testing terms and conditions' by Andelka M. Phillips at 273-295 notes
Contracts are ubiquitous online. Clickwrap and browsewrap agreements are to be encountered on almost every website a person engages with when accessing services online. Through these documents, people enter into binding contractual relationships, often without reading and sometimes without noticing these documents, when they engage with a wide variety of services online. This article discusses the use of contracts by the direct-to-consumer genetic testing (DTCGT) industry, as the dominant means of industry self-regulation. To date limited attention has been paid to these contracts. This article reviews the contracts of 71 companies that provide a variety of tests for health purposes. It considers these contracts from a consumer protection standpoint and identifies a number of problematic terms that may be challengeable under the UK’s consumer legislation and concludes by discussing the recent work potential for the UK’s Competition and Markets Authority to establish and enforce clear standards for DTCGT contracts.Phillips argues
We are living in the digital age and we are also living in the age of digital contracts. The Internet has become part of the fabric of everyday life for many people. It is used to document our lives, to access a myriad of services, including now the purchase of genetic testing services. However, almost every website you visit is subject to a contract in some form, often appearing as terms of use, terms and conditions, or terms of service, and these contracts do have important legal implications. They govern relationships between businesses and consumers and they may limit rights to redress if something goes wrong. The average person active online today will enter more contracts in a year than their grandparents did in a life-time (Felten 2011 ; Hoffman 2016 ). This paper discusses the use of contracts online and their role in regulation in a particular context, that of direct-to-consumer genetic testing (DTCGT). It focuses on the contracts of companies that provide tests for health purposes. This paper will address two research questions: from the perspective of consumer protection, what are the problems with these contracts; and how might UK law be used to improve contracts so that they afford better protection for consumers?
The DTCGT industry can be viewed as an example of disruptive innovation (see paper by Curnutte 2017 in this issue) and also an example of a shift from patient to consumer healthcare, as it allows the purchase of genetic tests online without a medical intermediary, bringing them into the consumer space and also into the domestic space, as people can order tests online from their homes. It should be noted that the consumer space differs significantly from the medical space, but in the context of health-related testing it is also not clear that DTCGT services ought to be viewed as consumer services and not medical services (Offit 2008 ). The term “direct-to-consumer” has primarily developed in the context of advertising and sale of pharmaceutical drugs (Pines 1999 ). DTCGT can either be advertised to the public but only available through an intermediary (normally a medical practitioner), or it can be both advertised directly and available for order directly by a consumer, normally over the Internet, sometimes also with the involvement of a medical practitioner (Hogarth, Javitt, and Melzer 2008, 163–164). The process normally involves the provision of a test kit by the company which the consumer uses to collect a DNA sample, which is in turn sent back to the company, which then carries out some form of genetic analysis service and then ultimately provides the consumer with test results in digital form. A wide range of health tests are available, ranging from predisposition and pre-symptomatic testing for serious diseases to carrier tests, pharmacogenetic tests (concerned with assessing an individual’s responsiveness to particular drugs or therapies) (HGC 2010 ), and also nutrigenetic tests (deals with associations between nutrients and metabolism and genes). Companies that provide testing for health purposes are generally making services available that have previously been offered in a medical setting. There is considerable scientific and clinical skepticism about the accuracy of tests purporting to provide genetic risk assessment for common, complex diseases.
Fourteen years have passed since the first major UK policy report on the regulation of the DTCGT industry (HGC 2003 ). The HGC also developed A Common Framework of Principles for Direct-to-Consumer Genetic Testing Services (2010 HGC ) and this Framework set out in article 6 that “Clinical utility of a genetic test shall be an essential criterion for deciding to offer this test to a person or a group of persons” (2010 HGC ). (Clinical validity and utility were also stressed by the Association for Molecular Pathology in their 2015 Association for Molecular Pathology Position Statement: Direct Access Genetic Testing )
A small number of prominent companies: DeCODE’s DeCODEme; 23andMe; Navigenics; Pathway Genomics; and Knome have been the subject of much of the academic literature. However, there is a greater number and diversity of firms, and the potential now for DTCGT services to be accessible more widely. If there is a corresponding wider consumer uptake of these services, the issues the industry raises are likely to increase in importance over time. 23andMe has been valued at a market cap of $1 billion (Krol 2015 ). Furthermore, a recent study by Research and Markets suggests that the “global predictive genetic testing & consumer/wellness genomics market is anticipated to reach USD 4.6 billion by 2025” (2017 Research and Markets.). Whether or not this estimate will prove to be accurate, if the industry does continue to grow there is likely to be significant consumer uptake of these services and this will include consumers who may be considered vulnerable in some way (see the Unfair Commercial Practices Directive; the Directive on Consumer Rights; and the General Product Safety Directive). The law does make distinctions between ordinary or average consumers and vulnerable consumers. The European Commission’s 2016 Consumer Vulnerability across Key Markets in the European Union.report explores consumer vulnerability and while acknowledging the lack of a universal definition, it identifies five core dimensions to vulnerability (xviii, and 39–40). Vulnerability is a spectrum and a person may become vulnerable due to a change in their circumstances, but “some personal characteristics can imply that vulnerability remains an enduring characteristic for particular groups of consumers” (xviii).
While DTCGT often involves feedback of results to individuals without any intermediary, in a clinical setting, a UK patient contemplating genetic testing would normally be provided with genetic counseling both prior to the test and after the test. The provision of counseling services assist patients with understanding what genetic test results mean for them and should assist them with understanding the benefits, risks, and limitations of test results. Article 8 of the HGC’s Framework set out information requirements for people undergoing genetic testing and suggested that those undergoing “predictive genetic tests” should receive genetic counseling. Drawing upon this, it would be beneficial if companies did provide genetic counseling to consumers.
For genetic tests carried out in a clinical setting, patients are normally required to give informed consent and the rights of patients to refuse treatment are also strongly protected. Indeed Article 9(1) of the HGC’s Framework specified that a genetic test should only be carried out “after the person concerned has given free and informed consent to it.” The importance of informed consent has also been stressed in a number of policy guidance documents to date (European Society of Human Genetics 2010 ; OECD 2007 ). However, in the online environment consumers are often deemed to have consented to the terms and conditions of websites through use or viewing of a website and there is a need to improve consent mechanisms for DTCGT health services. It is also important to recognize that informed consent in a medical setting is different to how consent is treated in contract law, but not all DTCGT companies have separate consent documents and consent and agreement or acceptance of terms are often treated synonymously in the DTCGT space.
This article focuses on the regulation of the industry from a consumer protection perspective, but it should be noted that these services do raise significant issues regarding consumer privacy and data protection. Furthermore, as highlighted by Christofides and O’Doherty’s (2016 Christofides and Doherty) recent study, consumers’ expectations regarding privacy practices of DTCGT providers, may be at odds with actual practices and disclosure policies. In relation to privacy and security risks in this context, an analogy can also be made with wearable fitness monitors. Citizen Lab and Open Effect’s report highlighted a number of vulnerabilities in common wearable devices (2016 Hilts, Parsons, and Knockel.), and given the nature of sequenced genetic data and the difficulties in preventing re-identification of individuals on the basis of such data, the significance of privacy risks in this context should not be underestimated (Ayday et al. 2015; Erlich and Narayanan 2014; Nuffield Council 2015). As companies are often engaging in research on consumers’ data and collecting other forms of personal and potentially sensitive data, more research on the potential for data linkage and re-identification is also needed.
In the UK, some marketing of DTCGT tests has been permitted and 23andMe has been selling their test kits through Superdrug both via the Superdrug website and in their stores (Meikle 2015 ; Wallace 2015 ). This has been possible, because their test kits have a Conformité Européene (CE) mark meaning that the kit has been approved as safe for the purposes of collecting saliva. This certification though is only an assessment of the test kit’s safety as a collection device. It does not provide an assessment of the quality of the genetic testing service provided or of any accompanying analysis or interpretation services.
In the US, the Food and Drug Administration (FDA) has recently altered its stance regarding DTCGT services (see paper by Curnutte 2017 in this issue). In April 2017 the FDA approved 23andMe’s Genetic Health Risk tests for 10 conditions to be marketed in the US. This may lead to wider availability of DTCGT services for health purposes in the US from other DTCGT providers as well, as the FDA intends “to exempt additional 23andMe GHR tests from the FDA’s premarket review, and GHR tests from other makers may be exempt after submitting their first premarket notification” (FDA 2017). Significantly, the FDA will be requiring consumer comprehension tests ( FDA Letter 2017), but this does not require comprehension tests of the online contracts used on DTCGT websites and as contracts do govern the relationship between DTCGT companies and consumers, there is also a need to ensure that consumers understand the content of these contracts.
Considerable attention has been paid to the potential for consumer harm arising from the profound asymmetries of information between companies and consumers arising in the context of a fast-moving and highly complex field of biomedical science. Policy reports in the USA and Europe have expressed concerns that the public may be misled by promotional hype because they lack the scientific knowledge to assess the veracity of companies’ claims. A number of academic studies have examined the websites of DTCGT genetics companies and identified problems with the quality of information offered to consumers. Hennen, Sauter, and Cruyce (2009) undertook a review of 38 companies, assessing the quality of information provision using 12 criteria established by Datta et al.(2008). They found that 55% of companies complied with four or fewer of the 12 criteria, concluding that such “fundamental information deficits [had] ...possibly far-reaching consequences for consumers.” Surveys by Geransar and Einsiedel (2008) and Sterling (2008) have drawn similar conclusions.
More recently, there has been growing interest in the issues of privacy, security, and transparency in provision of information in the context of DTCGT services (Christofides and O’Doherty 2016). Laestadius, Rich, and Auer study (2016) analyzed 30 websites offering health and ancestry tests and examined “the extent to which DTCGT-GT companies are complying with international guidance on the transparent provision of information related to confidentiality, privacy, and secondary use of the genetic samples and data they collect” (2). They found that although there have been some improvements in industry practices since earlier studies, such as an increase in the number of DTCGT companies having terms and conditions and privacy policies publicly available there are still weaknesses that need to be addressed. One area where there is particular need for improvement is the provision of information “regarding the risks and benefits of” DTCGT services and they cite Singleton et al.’s work which argued that this “lack of transparency” violates “the ethical principle of informed choice” (2012, 6). The Singleton study used frameworks “based on two core components of an informed choice: (1) the decisionmaker has relevant, high-quality information which presents the various alternatives and outcomes; and (2) it is consistent with the decision-maker’s values” (Singleton et al. 2012, 2). They found that
in the main pages of these websites, consumers are exposed to an average of 6 times as many benefits as risks and limitations. Therefore, consumers who only read the main web pages may be getting a skewed picture of the benefits, risks, and limitations of testing. (2012, 5)
They recommended the need for companies to consider providing more educational information on their websites to assist consumers. There have been a large number of proposals for policy action, but such initiatives have tended to focus on the regulation of health-related tests, and the role of medical device regulators in premarket evaluation of tests. It is important to note though that many types of DTCGT services, such as ancestry, talent identification or nutrigenetic testing will not be covered by these regulations, and even for tests covered by medical device regulation, not all aspects of the contractual relationship between company and consumer would be addressed, so alternative or supplementary mechanisms are required (Kalokairinou, Howard, and Borry 2014). The potential role of consumer legislation has been advocated by some as a preferred mechanism to address “fraudulent, deceptive, and unfair business practice” even for health-related tests (Wright, Hall, and Zimmern 2011) and the Human Genetics Commission (HGC) envisaged a role for consumer protection mechanisms in its 2003 report, along with an increased role for the Medicines and Healthcare Products Regulatory Agency (MHRA) (HGC 2003). In the same year, Martin and Frost provided an early attempt to map a taxonomy of different types of DTCGT services on to a range of legal and regulatory remedies, including consumer law (2003). In the US, as well as the American College of Medical Genetics and Genomics (ACMG), the American Society for Human Genetics (ASHG) has also been active in this area and released a Statement on Direct-to-Consumer Genetic Testing in the United States(2007).This Statement recommended thatthe Centers for Medicare and Medicaid Services (CMS) “create a genetic-testing specialty under CLIA, to ensure the analytic validity of tests and the quality of genetic testing laboratories” and also that “CMS should ensure that all DTCGT genetic-testing laboratories are certified under CLIA and should maintain a publicly accessible list containing the certification status of laboratories.” It went on to recommend that, “FDA and the FTC should work together to develop guidelines for DTCGT testing companies to follow, to ensure that their claims are truthful and not misleading and that they adequately convey the scientific limitations for particular tests.” It also stressed the importance of the following: transparency in companies’ practices; that they should provide appropriate information regarding the risks and benefits of DTCGT; and also that professional medical organizations should provide further education to their members, so that physicians can adequately interpret and understand DTCGTs ervices and results. However, despite some focus on consumer protection remedies, thus far scholars have paid limited attention to the contracts that bind DTCGT companies to their customers.
There is a growing literature that examines the consumer contracts used by online businesses more generally (Ayres and Schwartz 2014; Clapperton and Corones 2007; Loos and Luzak 2015). The level of notice and transparency of these contracts to consumers varies: clickwrap contracts typically force a consumer to scroll through a document before clicking on a box labeled I agree or I accept; whereas browsewrap contracts allow for consumers to access the terms via a hyperlink and it is not necessary to click on the link in order to be held to have entered into the contract (Kim 2013, 39–41, 41–43; Manwaring 2011). Although a clickwrap contract does afford more opportunity to read, in reality consumers often do not read either clickwrap or browsewrap agreements or privacy policies and while there may be an opportunity to read, these documents tend to be extremely lengthy. In the versions of contracts examined herein, 23andMe’s Terms of Service is 9081 words, and its Privacy Statement is 32 pages long and 15,807 words long; while Gene By Gene’s DNA DTCGT Terms and Conditions is 3645 words and its consent document is 4718, which can be contrasted with the lengths of the iTunes agreement, which is 19,972 words long and Amazon’s Terms and Conditions which is 36,275 words long (Wigley 2015).
McDonald and Cranor’s (2008) study “estimated that it would cost the average American Internet user 201 hours or the equivalent of $3534 a year to read the privacy policies of each website that he or she visits” (562). Also, where consumers do choose to read such contracts there is evidence to suggest they will not necessarily understand their content due to the complex nature of the legal language used, which may require a high level of education to comprehend (Ayres and Schwartz 2014; Loos and Luzak 2015). It also may be difficult for a consumer to locate terms on a website. Another study by Reidenberg, McDonald et al. investigated “the differences in interpretation among expert, knowledgeable, and typical users and explores whether these groups can understand the practices described in privacy policies at a level sufficient to support rational decision-making” (2015, 42). This study found discrepancies in understanding, including among experts, showing
a number of areas where website privacy policies are too ambiguous to be meaningful and reveal a need to clarify specific data practices. The research demonstrates that policies describe websites’ datasharing practices poorly.Experts could not reach consensus on interpretation of data sharing practices generally and agreed even less as to the various nuances of data sharing. (2015, 83)
While this study focused on the privacy policies of 6 US news and shopping websites (55–56), the study’s findings are relevant to thinking about how consumers interact with contracts and privacy policies in the DTCGT context. Given that the nature of DTCGT services for health can involve the dissemination of quite complex genetic and health information, discrepancies in people’s understanding of privacy policies for less complex services should lend support to a need to improve both contracts and privacy policies in order to enhance consumer understanding and support decision-making.
Another matter, which needs further consideration is the design of the contracting environment online and the way consumers behave online. It has been suggested that in the online world people are becoming habituated to clicking (Kim 2013, 59–60) and may even be “click-happy” (Kim 2013, 61; Hillman 2005, 4). In Frischmann and Salinger’s recent article they “develop an original argument that the electronic contracting environment should be understood as a techno-social tool for engineering human beings to behave automatically, like simple machines. ...” They
describe the problem in Taylorist terms, as a system of scientific management that’s directed toward consumers. This view emphasizes how consumers, like laborers in Taylorist workplaces, are conditioned (and possibly deskilled) to behave in ways that are largely determined by system designers who optimize environments to meet efficiency standards. (2016, 2)
They suggest that the electronic contracting environment“conditions human beings to behave like simple stimulus-response machines” and that if this is case there may be a need for significant reform for a number of reasons, but especially in the interests of protecting “human autonomy and sociality” (2016, 3). Frischmann and Salinger’s work is useful when we think about the use of contract to govern the purchase of DTCGT tests for health purposes. If we think about this in a more traditional medical context where protection of patient autonomy is often given significant protection the idea that the way people behave online may be diminishing their autonomy especially in relation to decision-making in the context of the purchase of DTCGT tests is worthy of further scrutiny.
This paper details a number of ways in which current industry reliance on standard “wrap” contracts (defined below) falls short of basic requirements for consumer protection. Having described the problem, the paper goes on to offer a regulatory solution, advocating a more active role for consumer protection agencies in governing the DTCGT industry, and in particular, exploring the potential role of the Competition & Markets Authority (CMA) in the UK context. Given the nature of DTCGT services and the importance of privacy and security issues raised by these services, the conclusion notes there is also a potential role in the UK for the Information Commissioner’s Office (ICO) and the Human Tissue Authority (HTA), as well as scope for similar bodies in other countries in improving regulation of the industry.
'Regulating direct-to-consumer genetic tests: What is all the fuss about?' by Caroline F Wright, Alison Hall and Ron L Zimmern in (2010) 13 Genetics in Medicine 295–300 comments
The number of genetic tests available direct-to-consumer has burgeoned over the last few years, prompting numerous calls for tighter regulation of these services. However, there is a lack of consensus about the most appropriate and achievable level of regulation, particularly given the global nature of the market. By consideration of potential for direct and indirect harms caused by genetic susceptibility or genomic profiling tests, in this study we offer an overarching framework that we believe to be feasible for the regulation of direct-to-consumer genetic tests and likely to be relevant to other forms of predictive testing. We suggest that just five key requirements would adequately protect the consumer: a proportionate set of consent procedures; formal laboratory accreditation; evidence of a valid gene-disease association; appropriately qualified staff to interpret the test result; and consumer protection legislation to prevent false or misleading claims.
The authors argue
Energized by the sudden explosion in genetic profiling services available direct-to-consumer (DTC) through the internet, which purport to assess an individual's risk of numerous diseases and traits, there has been a concomitant rise in calls for tighter regulation of this “consumer genomics” movement. Although the issue of increasing complexity of genetic (and other biomarker) tests has been extensively highlighted by numerous commentators, particularly in cases where interpretation of the results is highly complex and the clinical utility of testing is unproven, the regulatory environment has not developed as quickly as the technology itself. This has left policy makers divided over how to proceed. There is a lack of consensus as to the extent to which regulators should be involved, what minimum standards should and could be required across an international and predominantly internet-based market, and the role of legislation versus self-governance or voluntary guidance within an appropriate regulatory framework.
Although the market for DTC genetic profiling services is currently fairly small, analysis of the sector suggests that some existing services provided by commercial providers are substandard, indicating that some regulatory oversight of this sector may be needed. A survey on DTC genetic testing commissioned by the European Parliament reported that the majority of these services failed to provide sufficient information to consumers regarding the nature of the genetic test, interpretation of the results, and implications arising from the test itself. Moreover, a systematic review of the evidence supporting the gene-disease association from seven DTC genetic testing companies found that, of those reviewed in meta-analyses (57%), the minority (38%) were found to be statistically significant.
Numerous organizations including the UK Human Genetics Commission (established by and linked to the UK Department of Health) and the US Personalized Medicine Coalition (funded by private companies) are working in collaboration with commercial stakeholders to devise voluntary standards or codes of practice. However, existing legislation varies widely between countries. In Europe, a number of states within the Council of Europe that are signatories to the Convention on Human Rights and Biomedicine have signed or ratified additional voluntary legislation relating to genetic tests. The Additional Protocol on Genetic Testing requires that genetic tests that are carried out for health purposes satisfy generally accepted criteria of scientific and clinical validity (Article 5) and that an essential criterion of offering a test should be its clinical utility (Article 6). The protocol also states that a genetic test for health purposes “may only be performed under individualized medical supervision” (Article 7) and with the provision of relevant information and nondirective genetic counseling in the case of predictive, susceptibility, or carrier testing (Article 9). If widely adopted within Europe, these provisions “could have significant implications for certain DTC tests.” Although the Convention on Human Rights and Biomedicine and the Additional Protocol have been made in the interests of greater harmonization within the auspices of the Council of Europe, they are open for signature and ratification by a wider group of countries including the United States and Canada. To date, however, it is notable that neither Germany nor the United Kingdom have either signed or ratified the Convention or the Additional Protocol. Moreover, in Germany, access to genetic tests by the consumer has already been banned by law.
In the United States, there is federal oversight of clinical laboratories through the Clinical Laboratory Improvements Amendment (CLIA), which regulates clinical laboratories to ensure accuracy, reliability, and timeliness of patient test results. However, different states have taken very different approaches toward the regulation of DTC genetic testing, particularly in terms of who can order the test. Most notably, the states of New York and California have tried to directly regulate DTC genetic testing services, and multiple “cease and desist” letters were sent out to companies in both states notifying them that they need to meet the specific requirements of the state to be licensed to receive DNA samples from residents for analysis. In early 2010, the National Institutes of Health announced the creation of a public Genetic Testing Registry, to which laboratories can voluntarily submit information, which aims to improve the levels of information accessible to the public about the availability, validity, and usefulness of genetic tests.
Within the context of this ongoing international debate, in this study we offer a conceptual analysis of the area leading to an overarching framework for the regulation of DTC genetic tests, which we believe could also be applied more generally to tests for other predictive biomarkers. The term regulation as used in this article encompasses more than the use of legal instruments—which we term statutory regulation—and includes other mechanisms that will influence the extent to which tests are taken up by patients and consumers. The funding of health services when informed by a robust evidence base, whether by commissioners (as with the National Health Science in the United Kingdom), medical insurers (in Europe and elsewhere), or health maintenance organizations (in the United States) may be considered such a tool. Clinical guidelines and the education of physicians and patients can also be considered as a regulatory tool but at the level of the clinical consultation. It is not the purpose of the article to discuss in detail the operation of such tools but to lay a framework and to point to five points of access where our three sets of regulatory tools (statutory, funding, and clinical) might be made to work.
Our intention is neither to provide a detailed critique of national and international variations in current legislation nor a comprehensive review of the positions held by different professional stakeholders, as these have been covered elsewhere. In addition, this paper does not cover non-consensual testing (including testing of minors, adults who are unable to give consent, or third parties), but confines itself to the issues associated with legal, voluntary and consensual testing of competent adults. We focus on the key issues involved and offer a simple and widely applicable framework to the oversight of DTC genetic tests, which grapples with the competing demands of the need for proper regulation and concerns about an overly paternalistic approach which unnecessarily limits individual choice. Each element of our framework will need more detailed consideration as to how it might be work in practice in different countries, but the crux of our proposal is that appropriate regulation will need to be provided across all the elements of the clinical pathway: from the assay, through the determination of clinical validity and utility, and to the interpretation of the test in a clinical context.
