Evaluating online direct-to-consumer marketing of genetic tests: informed choices or buyers beware?

Commercialization of genetic technologies is expanding the horizons for the marketing and sales of genetic tests direct-to-consumers (DTCs). This study assesses the information provision and access requirements that are in place for genetic tests that are being advertised DTC over the Internet. Sets of key words specific to DTC genetic testing were entered into popular Internet search engines to generate a list of 24 companies engaging in DTC advertising. Company requirements for physician mediation, genetic counseling arrangements, and information provision were coded to develop categories for quantitative analysis within each variable. Results showed that companies offering risk assessment and diagnostic testing were most likely to require that testing be mediated by a clinician, and to recommend physician-arranged counseling. Companies offering enhancement testing were less likely to require physician mediation of services and more likely to provide long-distance genetic counseling. DTC advertisements often provided information on disease etiology; this was most common in the case of multifactorial diseases. The majority of companies cited outside sources to support the validity of claims about clinical utility of the tests being advertised; companies offering risk assessment tests most frequently cited all information sources. DTC advertising for genetic tests that lack independent professional oversight raises troubling questions about appropriate use and interpretation of these tests by consumers and carries implications for the standards of patient care. These implications are discussed in the context of a public healthcare system.     

DNA sampling and banking in clinical genetics and genetic research

Health-related direct-to-consumer (DTC) genetic testing has been a controversial practice. Especially problematic is predictive testing for Alzheimer disease (AD), since the disease is incurable, prevention is inconclusive, and testing does not definitively predict an individual's future disease status. In this paper, I examine two contrasting cases of subjects who learn through genetic testing that they have an elevated risk of developing AD later in life. In these cases, the subject's emotional response to the result is related to how well prepared she was for the real-life personal implications of possible test results. Analysis leads to the conclusion that when groups of health-related genetic tests are offered as packages by DTC companies, informed consumer choice is rendered impossible. Moreover, I argue, this marketing approach contravenes US Federal Trade Commission policies for non-deceptive commercial communications. I conclude by suggesting ways to improve the prospects for informed consumer choice in DTC testing.     

Informed Choice in Direct-to-Consumer Genetic Testing for Alzheimer and Other Diseases: Lessons from Two Cases

Health-related direct-to-consumer (DTC) genetic testing has been a controversial practice. Especially problematic is predictive testing for Alzheimer disease (AD), since the disease is incurable, prevention is inconclusive, and testing does not definitively predict an individual's future disease status. In this paper, I examine two contrasting cases of subjects who learn through genetic testing that they have an elevated risk of developing AD later in life. In these cases, the subject's emotional response to the result is related to how well prepared she was for the real-life personal implications of possible test results. Analysis leads to the conclusion that when groups of health-related genetic tests are offered as packages by DTC companies, informed consumer choice is rendered impossible. Moreover, I argue, this marketing approach contravenes U.S. Federal Trade Commission policies for non-deceptive commercial communications. I conclude by suggesting ways to improve the prospects for informed consumer choice in DTC testing.     

DTC genetic testing companies fail transparency prescriptions

In 2007, the American Society of Human Genetics issued recommendations for what the new and largely self-regulating industry offering genetic tests directly to consumers should disclose to potential customers. Websites for every DTC company offering health-related genetic tests as identified by a public policy group were evaluated for compliance with those transparency recommendations. The results showed that only six of the 25 companies studied met even 70% of the standards and that overall, the industry complied with the disclosure standards just 44% of the time. Further, the study revealed that even when companies met the letter of the law, they often failed to disclose to consumers the shortcomings associated with the tests and thus promoted genetic determinism. By failing to meet the spirit of the ASHG transparency recommendations, the DTC genetic testing industry demonstrates disdain toward the ethical principle of informed consent.     

Direct-to-consumer testing: if consumers are not anxious,why are policymakers?

Direct-to-consumer genetic testing continues to receive significant attention from both the popular press and policymakers. While the demand for these services has not, to date, been significant, it nevertheless seems likely that more and more individuals will be accessing DTC services. As a result, commentators have suggested that the DTC industry requires more oversight. A common rationale for policy action is that DTC services might cause undue anxiety. However, emerging evidence suggests that this is not the case. Indeed, it appears that genetic risk information has little impact on individual behavior or anxiety levels. Though more research is clearly needed, this type of research should inform the regulatory response to DTC services.     

Genetic tests obtainable through pharmacies: the good,the bad,and the ugly

Genomic medicine seeks to exploit an individual’s genomic information in the context of guiding the clinical decision-making process. In the post-genomic era, a range of novel molecular genetic testing methodologies have emerged, allowing the genetic testing industry to grow at a very rapid pace. As a consequence, a considerable number of different private diagnostic testing laboratories now provide a wide variety of genetic testing services, often employing a direct-to-consumer (DTC) business model to identify mutations underlying (or associated with) common Mendelian disorders, to individualize drug response, to attempt to determine an individual’s risk of a multitude of complex (multifactorial) diseases, or even to determine a person’s identity. Recently, we have noted a novel trend in the provision of private molecular genetic testing services, namely saliva and buccal swab collection kits (for deoxyribonucleic acid (DNA) isolation) being offered for sale over the counter by pharmacies. This situation is somewhat different from the standard DTC genetic testing model, since pharmacists are healthcare professionals who are supposedly qualified to give appropriate advice to their clients. There are, however, a number of issues to be addressed in relation to the marketing of DNA collection kits for genetic testing through pharmacies, namely a requirement for regulatory clearance, the comparative lack of appropriate genetics education of the healthcare professionals involved, and most importantly, the lack of awareness on the part of both the patients and the general public with respect to the potential benefits or otherwise of the various types of genetic test offered, which may result in confusion as to which test could be beneficial in their own particular case. We believe that some form of genetic counseling should ideally be integrated into, and made inseparable from, the genetic testing process, while pharmacists should be obliged to receive some basic training about the genetic tests that they offer for sale.     

Closure of population biobanks and direct-to-consumer genetic testing companies

Genetic research gained new momentum with the completion of the Human Genome Project in 2003. Formerly centered on the investigation of single-gene disorders, genetic research is increasingly targeting common complex diseases and in doing so is studying the whole genome, the environment and its impact on genomic variation. Consequently, biobanking initiatives have emerged around the world as a tool to sustain such progress. Whether they are small scale or longitudinal, public or private, commercial or non-commercial, biobanks should consider the possibility of closure. Interestingly, while raising important ethical issues, this topic has hardly been explored in the literature. Indeed, ethical issues associated with sale, insolvency, end of funding, or transfer of materials to other entities (which are all issues either related to or possible consequences of closure) are seldom the subject of discussion. In an attempt to fill this gap, this paper will discuss—using population and direct-to-consumer (DTC) genetic testing companies’ biobanks as case studies—(1) international and national normative documents addressing the issue of closure and (2) the internal policies of population biobanks and DTC genetic testing companies. The analysis will inform the debate on biobank closure and elucidate the underlying ethical issues, which include, but are not limited to informed consent, storage and privacy.     

Communication is the key.: Part 2 : Direct to consumer genetics in our future daily life ?

The considerable advances of genome sequencing over the past decades have had a profound impact on our daily life and opened up new avenues for the public to have access to their genetic information and learn more about their ancestry, genealogy and other traits that make each of us unique individuals. A very large number of individual single nucleotide polymorphisms (SNPs) have been associated to diseases whereas others have no known phenotype. For example, among the SNPs mapped within ccn1(cyr61), ccn2(ctgf), ccn3(nov), ccn4(wisp-1), ccn5(wisp-2) and ccn6 (wisp-3), only mutations within ccn4 were associated to PPD (the autosomal recessive skeletal disorder Progressive Pseudorheumatoid Dysplasia). On the occasion of this JCCS special issue on the roles of hormetic responses in adaptation, and response of living species to the modifications of their environment, it appeared that it was a good time to briefly review a topic that has been the subject of passionate discussions for the past few years, that is Direct to Consumer genetic tests (DTC GT). Based on the use of DNA analysis and identification of polymorphisms, DTC GT have been developed by several companies in the USA and in countries where there was no legal obstacle for customers to have direct access to their genetic information and manage their healthcare. Problems that arose and decisions that have been taken by regulatory agencies are presented and discussed in this editorial. The « freeze » of health-oriented DTC GT in the USA neither implies the end of DNA analysis nor « fun » applications, which are not aimed at providing risks estimates for particular illnesses. As shown in the example which is discussed in this editorial, DTC GT for cosmetic applications might be considered a fun application of great interest for companies such as L’Oréal, who recently developed the Makeup Genius mobile application. Other fun applications of DTC GT are discussed but there is no doubt that nothing will stop progress and it is most probable than within a few years from now all the tensions raised about these procedures will vanish to the profit and benefit of consumers. In any case, this will only be possible through an intensive communication effort, because …communication is the key !     

Effect of sodium diethyl dithiocarbamate on mitogen induced lymphoproliferation "in vitro"

Sodium diethyl dithiocarbamate (DTC) is a low molecular weight sulphur compound which has been shown to be an adjuvant of immunity in vivo. In this report, DTC was shown to inhibit in vitro DNA-synthesis of human peripheral blood lymphocytes stimulated by phytohemagglutinin or concanavalin A. DTC could act directly at the cellular level and indirectly by interfering with culture medium or lectins.     

The future of direct-to-consumer clinical genetic tests

In light of the meeting of the US Food and Drug Administration (FDA) in March 2011 to discuss the regulation of clinical direct-to-consumer (DTC) genetic tests, we have invited five experts to consider the best means of overseeing the ordering and interpretation of these tests. Should these tests be regulated? If so, who, if anyone, should communicate results to consumers?     

Identification of genetic susceptibility to common diseases: the case for regulation

There is, and will continue to be, pressure to disseminate and market population-wide availability of genetic susceptibility tests for common, complexly determined diseases. Many of the claims for such genetic screening tests are made by parties who stand to gain: laboratories, service providers, biotechnology firms, scientists working in genetics. Despite the fact that there is little or no evidence to support the claims of benefit, the current lack of appropriate regulation means there is a danger that promotion and advertising will nevertheless be successful in marketing such testing. Some suggestions as to the content of possible regulation are made, and some impediments to the implementation of regulation are discussed.     

Corporate political activity in the context of unhealthy food advertising restrictions across Transport for London: A qualitative case study

BackgroundDiets with high proportions of foods high in fat, sugar, and/or salt (HFSS) contribute to malnutrition and rising rates of childhood obesity, with effects throughout the life course. Given compelling evidence on the detrimental impact HFSS advertising has on children’s diets, the World Health Organization unequivocally supports the adoption of restrictions on HFSS marketing and advertising. In February 2019, the Greater London Authority introduced novel restrictions on HFSS advertising across Transport for London (TfL), one of the most valuable out-of-home advertising estates. In this study, we examined whether and how commercial actors attempted to influence the development of these advertising restrictions.Methods and findingsUsing requests under the Freedom of Information Act, we obtained industry responses to the London Food Strategy consultation, correspondence between officials and key industry actors, and information on meetings. We used an existing model of corporate political activity, the Policy Dystopia Model, to systematically analyse arguments and activities used to counter the policy. The majority of food and advertising industry consultation respondents opposed the proposed advertising restrictions, many promoting voluntary approaches instead. Industry actors who supported the policy were predominantly smaller businesses. To oppose the policy, industry respondents deployed a range of strategies. They exaggerated potential costs and underplayed potential benefits of the policy, for instance, warning of negative economic consequences and questioning the evidence underlying the proposal. Despite challenging the evidence for the policy, they offered little evidence in support of their own claims. Commercial actors had significant access to the policy process and officials through the consultation and numerous meetings, yet attempted to increase access, for example, in applying to join the London Child Obesity Taskforce and inviting its members to events. They also employed coalition management, engaging directly and through business associations to amplify their arguments. Some advertising industry actors also raised the potential of legal challenges. The key limitation of this study is that our data focused on industry–policymaker interactions; thus, our findings are unable to present a comprehensive picture of political activity.ConclusionsIn this study, we identified substantial opposition from food and advertising industry actors to the TfL advertising restrictions. We mapped arguments and activities used to oppose the policy, which might help other public authorities anticipate industry efforts to prevent similar restrictions in HFSS advertising. Given the potential consequences of commercial influence in these kinds of policy spaces, public bodies should consider how they engage with industry actors.

In a qualitative case study, Kathrin Lauber and colleagues examine the nature of corporate political activity in the context of unhealthy food advertisement restrictions across transport for London.     

An alternative foundation for the planning and evaluation of linkage analysis. I. Decoupling "error probabilities" from "measures of evidence"

The lod score, which is based on the likelihood ratio (LR), is central to linkage analysis. Users interpret lods by translating them into standard statistical concepts such as p values, alpha levels and power. An alternative statistical paradigm, the Evidential Framework, in contrast, works directly with the LR. A key feature of this paradigm is that it decouples error probabilities from measures of evidence. We describe the philosophy behind and the operating characteristics of this paradigm--based on new, alternatively-defined error probabilities. We then apply this approach to linkage studies of a genetic trait for: I. fully informative gametes, II. double backcross sibling pairs, and III. nuclear families. We consider complete and incomplete penetrance for the disease model, as well as using an incorrect penetrance. We calculate the error probabilities (exactly for situations I and II, via simulation for III), over a range of recombination fractions, sample sizes, and linkage criteria. We show how to choose linkage criteria and plan linkage studies, such that the probabilities of being misled by the data (i.e. concluding either that there is strong evidence favouring linkage when there is no linkage, or that there is strong evidence against linkage when there is linkage) are low, and the probability of observing strong evidence in favour of the truth is high. We lay the groundwork for applying this paradigm in genetic studies and for understanding its implications for multiple tests.     

Governing genetics: reifying choice and progress

The governance of genetics involves a wide range of policy networks and covers a considerable array of genetic technoscience. Despite this apparent diversity, the uniformity of some genetic governance requires investigation. Reviewing policy documents on genetic patenting and embryonic stem cell research, I shall argue that policy networks often conceive of the ethical aspects of these practices in similar ways. In particular, I shall argue that individual choice and medico-scientific progress are common rhetorical devices in their frameworks. I shall end by commenting upon the implications of these trends for the future.     

International policy and advisory response regarding children’s exposure to radio frequency electromagnetic fields (RF-EMF)

Abstract

Radiofrequency electromagnetic field (RF-EMF) exposure regulations/guidelines generally only consider acute effects, and not chronic, low exposures. Concerns for children’s exposure are warranted due to the amazingly rapid uptake of many wireless devices by increasingly younger children. This review of policy and advice regarding children’s RF-EMF exposure draws material from a wide variety of sources focusing on the current situation. This is not a systematic review, but aims to provide a representative cross-section of policy and advisory responses within set boundaries. There are a wide variety of approaches which I have categorized and tabulated ranging from ICNIRP/IEEE guidelines and “no extra precautions needed” to precautionary or scientific much lower maxima and extensive advice to minimize RF-EMF exposure, ban advertising/sale to children, and add exposure information to packaging. Precautionary standards use what I term an exclusion principle. The wide range of policy approaches can be confusing for parents/carers of children. Some consensus among advisory organizations would be helpful acknowledging that, despite extensive research, the highly complex nature of both RF-EMF and the human body, and frequent technological updates, means simple assurance of long-term safety cannot be guaranteed. Therefore, minimum exposure of children to RF-EMF is recommended. This does not indicate need for alarm, but mirrors routine health-and-safety precautions. Simple steps are suggested. ICNIRP guidelines need to urgently publish how the head, torso, and limbs’ exposure limits were calculated and what safety margin was applied since this exposure, especially to the abdomen, is now dominant in many children.     

No association between XRCC1 genetic polymorphisms and differentiated thyroid carcinoma risk: a meta-analysis

The X-ray repair cross-complementing group 1 (XRCC1) gene belongs to the family of DNA repair genes. Polymorphisms in the XRCC1 gene, Arg399Gln, Arg194Trp and Arg280His, have been reported to have implications in differentiated thyroid carcinoma (DTC) susceptibility, but the results remain conflicting and no meta-analysis has been published. Therefore, we carried out a systematic review of the published epidemiology studies, aiming to assess the relationship between XRCC1 polymorphisms and susceptibility to DTC risk. We selected three databases, PubMed, EMBASE and CNKI, in which to search for published literature. With respect to DTC risk associated with XRCC1, combined odds ratios (ORs) and 95 % confidence intervals (CI) were appropriately calculated on the basis of co-dominant, dominant and recessive models. To investigate different effects from specific race, subgroup analyses were carried out in Asian and Caucasian populations. Eight studies meeting the inclusion criteria were eventually selected for Arg399Gln (1,550 cases and 2,692 controls), five studies for Arg194Trp (858 cases and 1,394 controls) and five studies for Arg280His (1,237 cases and 2,267 controls). The combined results of the relevant studies exhibited that no significant associations with DTC risk were demonstrated for polymorphisms in XRCC1 Arg399Gln, Arg194Trp and Arg280His in all genetic models. Stratified analyses in Asian and Caucasian populations showed similar results. This meta-analysis arrives at a conclusion that the XRCC1 (Arg399Gln, Arg194Trp, Arg280His) polymorphisms appear to confer no risk for DTC.     

Autobiologies on YouTube: narratives of direct-to-consumer genetic testing

Despite a growing personal genomics market, little is known about how people engage with the possibilities offered by direct-to-consumer (DTC) genetic testing. In order to help address this gap, this study deploys narrative analysis of YouTube videos posted by individuals who have purchased DTC genetic testing for disease. Genetic testing is said to be contributing to new states of illness, where individuals may become “patients-in-waiting.” In the videos analyzed, we found a new form of storytelling about this ambiguous state of illness, which we refer to as autobiology. Autobiology – the study of, and story about, one's own biology – concerns narratives of sense-making through forms of biological practice, as well as wayfaring narratives which interweave genetic markers and family histories of disease. These autobiologies – part of a broader shift toward public stories about genetics and other healthcare technologies – exhibit playfulness, as well as being bound with consumerist practices.