Non-consensual collection and analysis of DNA: a contemporary legal lacuna

BackgroundRecent progress in genome data collection and analysis technologies has led to a surge of direct-to-consumer (DTC) genetic testing services. Owing to the clinical value and sensitivity of genomic data, as well as uncertainty and hearsay surrounding business practices of DTC genetic testing service providers, DTC genetic testing has faced significant criticism by researchers and practitioners. Research in this area has centered on ethical and legal implications of providing genetic tests directly to consumers, but we still lack a more profound understanding of how businesses in the DTC genetic testing markets work and provide value to different stakeholders.ObjectiveThe aim of this study was to address the lack of knowledge concerning business models of DTC genetic testing services by systematically identifying the salient properties of various DTC genetic testing service business models as well as discerning dominant business models in the market.MethodsWe employed a 3-phased research approach. In phase 1, we set up a database of 277 DTC genetic testing services. In phase 2, we drew on these data as well as conceptual models of DTC genetic testing services and iteratively developed a taxonomy of DTC genetic testing service business models. In phase 3, we used a 2-stage clustering method to cluster the 277 services that we identified during phase 1 and derived 6 dominant archetypes of DTC genetic testing service business models.ResultsThe contributions of this research are 2-fold. First, we provided a first of its kind, systematically developed taxonomy of DTC genetic testing service business models consisting of 15 dimensions in 4 categories. Each dimension comprises 2 to 5 characteristics and captures relevant aspects of DTC genetic testing service business models. Second, we derived 6 archetypes of DTC genetic testing service business models named as follows: (1) low-cost DTC genomics for enthusiasts, (2) high-privacy DTC genomics for enthusiasts, (3) specific information tests, (4) simple health tests, (5) basic low-value DTC genomics, and (6) comprehensive tests and low data processing.ConclusionsOur analysis paints a much more complex business landscape in the DTC genetic testing market than previously anticipated. This calls for further research on business models and their effects that underlie DTC genetic testing services and invites specific regulatory interventions to protect consumers and level the playing field.

The first regulatory rulings by the U.S. Food and Drug Administration on direct-to-consumer (DTC) genetic testing services are expected soon. As the process of regulating these and other genetic tests moves ahead, it is important to understand the preferences of DTC genetic testing customers about the regulation of these products. An online survey of customers of three DTC genetic testing companies was conducted 2-8 months after they had received their results. Participants were asked about the importance of regulating the companies selling DTC genetic tests. Most of the 1,046 respondents responded that it would be important to have a nongovernmental (84%) or governmental agency (73%) monitor DTC companies' claims to ensure the consistency with scientific evidence. However, 66% also felt that it was important that DTC tests be available without governmental oversight. Nearly, all customers favored a policy to ensure that insurers and law enforcement officials could not access their information. Although many DTC customers want access to genetic testing services without restrictions imposed by the government regulation, most also favor an organization operating alongside DTC companies that will ensure that the claims made by the companies are consistent with sound scientific evidence. This seeming contradiction may indicate that DTC customers want to ensure that they have unfettered access to high-quality information. Additionally, policies to help ensure privacy of data would be welcomed by customers, despite relatively high confidence in the companies.

Ten years ago, the idea of ordering a test on the Internet that could determine your risk for 100 genetic traits and conditions was science fiction. Today, there are dozens of companies offering direct-to-consumer (DTC) genetic testing services. In the era of genomics, with the promise of personalized medicine, these types of tests can be exciting to consider and may have the potential to increase consumer literacy around genetics and genomics. DTC test delivery increases individuals’ access to genetic tests and may also encourage consumers to take a proactive role in their health care. In general, most of the reputable DTC companies use labs that are regulated under the Clinical Laboratory Improvement Amendments of 1988 (CLIA). This provides some guarantee of the analytic validity of the tests they perform. However, questions are often raised regarding the interpretation of test results (clinical validity) and the public’s understanding of these interpretations (a flavor of clinical utility). Many of these tests and results include singlenucleotide polymorphisms that are presumably associated with common conditions. Despite the discoveries that have been made through genome-wide association studies, we still have relatively little information on genetic associations with common diseases and how genes interact with the environment to shape risk for certain diseases. The regulation of DTC testing has recently drawn considerable attention. While the Food and Drug Administration (FDA) has had concerns about the marketing of these tests since their inception several years ago, in summer 2010 the FDA issued letters to 21 DTC companies, warning them that their tests were subject to device regulation. This came on the heels of a 2-day public meeting to hear the community’s thoughts on oversight of laboratory-developed tests (LDTs). Interestingly, the problems that are observed with DTC tests reflect the problems with genetic testing in general, including the need for guidelines and regulation. The FDA’s interest covers all LDTs, not only DTC tests. While the regulatory debate continues between DTC companies and the FDA, it is important for health-care providers and consumers to understand the risks and benefits of accessing DTC genetic services. One of the critical issues with genetic testing, whether it is offered directly to the consumer or not, is the concept of clinical utility. As the testing community is well aware, clinical utility refers to the use of test results to inform clinical decision-making (Grosse and Khoury, 2006). Clinical utility is a difficult concept to apply in genetic medicine because it can be dependent on the context of the testing application. There is a delicate balance between offering a test that has incomplete safety and effectiveness data and stifling the market for these tests, limiting public access to an emerging service. For DTC and genetic tests in general, it is necessary to understand how clinical utility is assessed and to determine how we build on utility evidence to improve the benefits of genetic testing for consumers. It is also important to consider the potential of these services to increase the amount of data that is needed for correlation studies and utility evidence. The data needed to develop evidence for clinical utility can be effectively gathered through ongoing studies that occur after a test has already been made available to the public. As mentioned earlier, DTC marketing and sales of genetic tests increases the likelihood that an individual will have access to a particular genetic test. While easy access can be beneficial—increasing availability can empower consumers to be more proactive in their health—consumers also need to consider the risks of genetic tests that might not yet have clinical validity or that need an intermediary health-care professional. The rising number of genetic tests and our expanding genetics knowledge has made it increasingly difficult for health-care providers to keep up to date on all of the tests available. Misinformation or mismanagement of information may be one of the dangers of DTC testing. Furthermore, little evidence exists related to the psychosocial harms and benefits of genetic testing. For example, there is a risk that consumers may gain a false sense of security or experience heightened anxiety after receiving the interpretation of their test results for particular conditions. More research is needed in this area, including post-market surveillance of tests. Determining evidence thresholds for genetic testing requires a stratified approach to assessing risk. Simultaneously, we must take care not to stifle the advancement of these genetic testing applications. Test developers, consumers, and healthcare providers share the same goals: accurate and reliable information, the advancement of science, and better

Direct-to-consumer (DTC) genetic services refer to genetic tests sold directly to consumers via the Internet, television, and other marketing venues without involving healthcare providers such as physicians, genetic counselors, and other healthcare professionals. Companies such as 23andMe and Navigenics offer genetic tests using genome-wide technology direct to consumers over the Internet. Genetic data collected by DTC companies provide an opportunity for future personalized medicine programs that will significantly improve patient outcomes and preventive care. While this may be a promising development, DTC genetic testing raises important security and privacy concerns. This paper aims to identify the most important security threats to consumers of DTC genetic testing services, and explain how to use security technologies and policies to mitigate the threats. In this paper, we first analyze a leading DTC company that demonstrates how security concerns might be intrinsic to contemporary DTC genetic testing services. We then present a threat model and identify the most important security threats to consumers of DTC genetic testing services. Furthermore, we outline security and privacy implications of using DTC genetic services and how DTC companies should elaborate upon them to protect genetic privacy.

Numerous direct-to-consumer genetic testing services now offer individuals genetic sequencing, testing, and ancestry mapping services outside of the traditional healthcare infrastructure and regulatory barriers. The rise of direct-to-consumer testing services presents policy questions on how to best protect consumers while still promoting future innovation. From a data privacy perspective, concerns include who can share other people’s genetic information, what entities can use the information, what happens if the information is stolen, and whether law enforcement, or other entities, can request information from a third party. The overarching concern is that once disclosed, genetic information often cannot be unshared or returned. Further, genetic information from biological relatives can provide information on others who have not personally disclosed or authorized disclosure of their genetic information. In the United States, a patchwork of regulations has been created at the state level that exceeds the minimum requirements created by Congress. In other parts of the world, countries and regional networks have similarly created varying regulations to govern genetic information and its use. This comment reviews various regulations both in the United States and Europe, discusses the implications of the various regulatory schemes, and proposes a regulatory regime. This proposal aims at harmonizing rules across jurisdictions, distinguishing between “faceless” and individually labeled data, and seeks to allow for data use, testing, and development of new technology, while limiting exposure of individuals genetic information.

The online offer of commercial genetic tests, also called direct-to-consumer genetic tests (DTC-GTs), enables citizens to gain insight into their health and disease risk based on their genetic profiles. DTC-GT offers often consist of a combination of services or aspects, including advertisements, information, DNA analysis, and medical or lifestyle advice. The risks and benefits of DTC-GT services have been debated and studied extensively, but instruments that assess DTC-GT services and aid policy are lacking. This leads to uncertainty among policy makers, law enforcers, and regulators on how to ensure and balance both public safety and autonomy and about the responsibilities these 3 parties have toward the public. This study aimed to develop a framework that outlines aspects of DTC-GTs that lead to policy issues and to help provide policy guidance regarding DTC-GT services. We performed 3 steps: (1) an integrative literature review to identify risks and benefits of DTC-GT services for consumers and society in Embase and Medline (January 2014-June 2022), (2) structuring benefits and risks in different steps of the consumer journey, and (3) development of a checklist for policy guidance. Potential risks and benefits of DTC-GT services were mapped from 134 papers and structured into 6 phases. In summary, these phases were called the consumer journey: (1) exposure, (2) pretest information, (3) DNA analysis, (4) data management, (5) posttest information, and (6) individual and societal impact. The checklist for evaluation of DTC-GT services consisted of 8 themes, covering 38 items that may raise policy issues in DTC-GT services. The themes included the following aspects: general service content, validity and quality assurance, potential data and privacy risks, scientific evidence and robustness, and quality of the provided information. Both the consumer journey and the checklist break the DTC-GT offer down into key aspects that may impact and compromise individual and public health, safety, and autonomy. This framework helps policy makers, regulators, and law enforcers develop methods to interpret, assess, and act in the DTC-GT service market.

Despite the rapidly decreasing cost and increase in the range of direct-to-consumer (DTC) genetic testing services, uptake and utilization have been slow compared with similar technologies. In this paper, we examine the potential consumer trends of DTC genetic testing using the Theory of Diffusion of Innovation and the Bass Model to simulate consumer purchasing trends with respect to internal and external influences such as word-of-mouth dissemination and regulatory trends. By simulating these influences on the adoption of DTC genetic testing in the consumer market, stakeholders will be better able to evaluate the need for changes in policy and influences in consumer demand for DTC genetic testing products.

‘Genetic testing can reveal crucial information to guide your training and nutrition strategies based on predispositions built into your DNA. Genetic testing identifies the ideal nutrition, training and recovery strategies for you and helps explain why athletes given the same training and nutrition plans respond differently. In short gene testing provides the ultimate in personalized nutrition and training guidance…’1 Direct-to-consumer (DTC) genetic testing has been in the news in recent years, especially since November 2013, when the US Food and Drug Administration (FDA) shut down 23andMe, one of several firms that offered people general health information based on their genetic test results.2 Much attention has been paid to the accuracy of these tests in predicting future risk of disease. This is understandable as the first wave of DTC companies, including 23andMe, eventually focused on providing genetic information of this nature. And much of the existing literature on the possible harms and benefits of DTC testing is largely an analysis of disease-oriented testing.3 But it should not be forgotten that many other DTC genetic testing products are being marketed throughout the world that are not focused on disease risk but instead offer information—of varying degrees of scientific legitimacy—relevant to things like fitness, diet, and athletic ability. In addition, non-traditional providers, such as homeopaths,4 naturopaths,5 and chiropractors,6 increasingly are offering genetic tests for the purpose of providing health and lifestyle advice. It seems inevitable that, unless the regulatory environment changes, this trend will continue, with genetic testing being offered to the public for an ever-increasing range of reasons not directly related to disease. In this paper, we map the policy issues associated with the marketing and use of genetic testing products outside of the context of disease risk. We focus on companies and providers that offer testing for a wide range of genetic traits, and consider the potential implications of offering these products for use in children and adolescents. While the size of the market for these services remains unknown, it is probably still relatively small.7 Nonetheless, an analysis of genetic testing in this broader context provides an opportunity to consider issues that are likely to increase in significance as genetic testing technologies become more affordable and as the idea of genetic testing becomes more socially acceptable.8 For example, the present analysis affords an opportunity to consider the possible harms, if any, and available policy options for regulating genetic testing services not focused on disease risk and that reside on the margins of credibility. As we will see, some tests are being marketed for purposes that are clearly scientifically absurd (eg for targeting homeopathic therapies and naturopathic detoxification regimens)9 while others have more scientific plausibility, at least theoretically (eg testing for genes related to obesity and athletic characteristics like sprinting ability). Obviously, not all of these services will raise the same issues. But what they do have in common is the provision of genetic information. Are most of these companies and providers simply leveraging the excitement surrounding genetics to market services with unproven utility that are largely harmless? Is there something about genetic testing, as opposed to other forms of equally predictive information, which justifies heightened regulatory oversight? Looking at these, and other,10 issues through the lens of children and adolescents highlight potential policy challenges that may be especially problematic.11 While one could argue that legally competent adults should have the right to choose whatever service they have an interest in (however useless), this may not be the case in the context of children and adolescents who lack legal capacity and may be particularly vulnerable to DTC industry marketing strategies. We will examine whether, in the context of genetic testing services that have little scientific data to support their purported uses, any regulatory or policy response is appropriate and the potential forms such a response could take.

The Idaho Student Homicides and the Future of Forensic Genetic Genealogy

Introduction:Genetic testing helps individuals with disease management, family planning, and medical decision-making. Identifying individual-level factors related to the use of genetic services is essential but may only partially explain differential genetic service usage. To address this knowledge gap, we analyzed data on a national sample of US adults to evaluate whether higher neighborhood vulnerability is significantly associated with lower genetic testing utilization, controlling for sociodemographic and health characteristics.Methods:A 2024 nationally representative cross-sectional survey of 631 US adults recruited using NORC’s probability-based AmeriSpeak panel. Genetic testing uptake was measured as self-reported ever use of ancestry, personal trait, specific disease, or prenatal genetic carrier testing. Secondary outcomes were indicator variables for each genetic testing type. Neighborhood vulnerability (low versus high) was measured by the Social Vulnerability Index, capturing socioeconomic factors affecting community resilience to natural hazards and disasters.Results:Forty-eight percent of the weighted sample used genetic testing services. Compared to those in low vulnerability areas, individuals in high vulnerability areas had 42% lower odds (adjusted OR: 0.58, 95% CI: 0.37-0.90) of using genetic testing services, controlling for individual-level characteristics. Secondary analyses showed no evidence of statistically significant relationships between neighborhood vulnerability and specific types of genetic testing services.Conclusion:Findings suggest that neighborhood vulnerability may contribute to differences in genetic testing uptake, which is crucial to increasing early detection of cancer susceptibility and reducing US cancer incidence. This study demonstrates the importance of going beyond examining individual characteristics to investigating structural factors negatively impacting genetic testing usage.

BackgroundThe existing literature has not examined how Chinese direct-to-consumer (DTC) genetic testing providers navigate the issues of informed consent, privacy, and data protection associated with testing services. This research aims to explore these questions by examining the relevant documents and messages published on websites of the Chinese DTC genetic test providers.MethodsUsing Baidu.com, the most popular Chinese search engine, we compiled the websites of providers who offer genetic testing services and analyzed available documents related to informed consent, the terms of services, and the privacy policy. The analyses were guided by the following inquiries as they applied to each DTC provider: the methods available for purchasing testing products; the methods providers used to obtain informed consent; privacy issues and measures for protecting consumers’ health information; the policy for third-party data sharing; consumers right to their data; and the liabilities in the event of a data breach.Results68.7% of providers offer multiple channels for purchasing genetic testing products, and that social media has become a popular platform to promote testing services. Informed consent forms are not available on 94% of providers’ websites and a privacy policy is only offered by 45.8% of DTC genetic testing providers. Thirty-nine providers stated that they used measures to protect consumers’ information, of which, 29 providers have distinguished consumers’ general personal information from their genetic information. In 33.7% of the cases examined, providers stated that with consumers’ explicit permission, they could reuse and share the clients’ information for non-commercial purposes. Twenty-three providers granted consumer rights to their health information, with the most frequently mentioned right being the consumers’ right to decide how their data can be used by providers. Lastly, 21.7% of providers clearly stated their liabilities in the event of a data breach, placing more emphasis on the providers’ exemption from any liability.ConclusionsCurrently, the Chinese DTC genetic testing business is running in a regulatory vacuum, governed by self-regulation. The government should develop a comprehensive legal framework to regulate DTC genetic testing offerings. Regulatory improvements should be made based on periodical reviews of the supervisory strategy to meet the rapid development of the DTC genetic testing industry.

The Front Line of Genomic Translation

Direct to consumer genetic testing: Avoiding a culture war

Progress in deciphering the functionality of the human genome sequence in the wake of technological advances in the field of genomic medicine have dramatically reduced the overall costs of genetic analysis, thereby facilitating the incorporation of genetic testing services into mainstream clinical practice. Although Greek genetic testing laboratories offer a variety of different genetic tests, relatively little is known about how either the general public or medical practitioners perceive genetic testing services. We have therefore performed a nationwide survey of the views of 1717 members of the general public, divided into three age groups, from all over Greece, and residing in both large and small cities and villages, in order to acquire a better understanding of how they perceive genetic testing. We also canvassed the opinions of 496 medical practitioners with regard to genetic testing services in a separate survey that addressed similar issues. Our subsequent analysis indicated that a large proportion of the general public is aware of the nature of DNA, genetic disorders and the potential benefits of genetic testing, although this proportion declines steadily with age. Furthermore, a large proportion of the interviewed individuals would be willing to undergo genetic testing even if the cost of analysis was not covered by healthcare insurance. However, a relatively small proportion of the general public has actually been advized to undergo genetic testing, either by relatives or physicians. Most physicians believe that the regulatory and legal framework that governs genetic testing services in Greece is rather weak. Interestingly, the vast majority of the general public strongly opposes direct-access genetic testing, and most would prefer referral from a physician than from a pharmacist. Overall, our results provide a critical evaluation of the views of the general public with regard to genetics and genetic testing services in Greece and should serve as a model for replication in other populations.

Introducing the New Editorial Team