Direct-to-consumer Genetic Testing Companies Research Articles

“The truth should not be hidden”: Experiences and recommendations of individuals making NPE discoveries through genetic genealogy databases

PurposeFueled by direct-to-consumer (DTC) genetic testing and genetic-relative finder services, some participants in genetic 8genealogy databases are making “not parent expected” (NPE) discoveries. To better understand experiences of this phenomenon, we surveyed a large cohort of users of genetic relative finder (GRF) services concerning their experiences after an NPE discovery. MethodsUsing thematic analysis, we analyzed responses from a cohort of GRF users (n = 646) to open-ended survey items to understand these experiences and their recommendations for DTC genetic testing companies and other GRF users. ResultsWe found that individuals had both positive and negative emotional experiences related to the NPE discovery. Positive aspects included deeper self-understanding, connecting with new family members, and uncovering answers to questions. Negative aspects included rejection by new genetic relatives, inability to seek answers from relatives who had already died, and impairment of family relationships, especially with mothers. For many participants, the challenges after the discovery nevertheless felt worthwhile because the truth was uncovered. Perhaps notably, some participants suggested enhanced warnings prediscovery and improved support after discovery from companies who provide DTC genetic testing services. ConclusionGRF services are powerful tools for family research and genealogy. Despite some possible positive and worthwhile experiences arising from making an NPE discovery, GRF users risk dealing with this potentially life-altering experience without adequate support. Participants in this study recommended an increase in resources from DTC genetic testing companies that could help users anticipate and navigate an NPE discovery.

Many direct-to-consumer canine genetic tests can identify the breed of purebred dogs.

To compare pedigree documentation and genetic test results to evaluate whether user-provided photographs influence the breed ancestry predictions of direct-to-consumer (DTC) genetic tests for dogs. 12 registered purebred pet dogs representing 12 different breeds. Each dog owner submitted 6 buccal swabs, 1 to each of 6 DTC genetic testing companies. Experimenters registered each sample per manufacturer instructions. For half of the dogs, the registration included a photograph of the DNA donor. For the other half of the dogs, photographs were swapped between dogs. DNA analysis and breed ancestry prediction were conducted by each company. The effect of condition (ie, matching vs shuffled photograph) was evaluated for each company's breed predictions. As a positive control, a convolutional neural network was also used to predict breed based solely on the photograph. Results from 5 of the 6 tests always included the dog's registered breed. One test and the convolutional neural network were unlikely to identify the registered breed and frequently returned results that were more similar to the photograph than the DNA. Additionally, differences in the predictions made across all tests underscored the challenge of identifying breed ancestry, even in purebred dogs. Veterinarians are likely to encounter patients who have conducted DTC genetic testing and may be asked to explain the results of genetic tests they did not order. This systematic comparison of commercially available tests provides context for interpreting results from consumer-grade DTC genetic testing kits.

Ethical Issues Associated With Direct-to-Consumer Genetic Testing.

Direct-to-consumer genetic testing (DTC-GT) is becoming an increasingly profitable private enterprise that provides genetic testing kits directly to consumers. DTC-GT companies advertise themselves as a method for patients to take control of their own health and investigate their risk of diseases and conditions as well as look into their ancestry. The scope of practice of these companies continues to widen offering more services. Consumers may therefore have a relatively poor understanding of the services provided when purchasing these products. The testing methods utilised show some limitations, the consequences of which have the possibility of leading to harm to consumers. The result of the data gathered may instigate the formation of negative stereotypes from the public and reinforce existing ones towards a population that may have already been previously subjugated to unfair treatment. The controversy surrounding how data are utilised further impacts how many may engage in its use. This review aims to provide an overview of the services these companies purport to provide as well as highlight important ethical issues of the service such as quality of information, privacy concerns, negative psychosocial impact and the effect on clinical practice.

Family secrets: Experiences and outcomes of participating in direct-to-consumer genetic relative-finder services

In recent decades, genetic genealogy has become popular as a result of direct-to-consumer (DTC) genetic testing. Some DTC genetic testing companies offer genetic relative-finder (GRF) services that compare the DNA of consenting participants to identify genetic relatives among them and provide each participant a list of their relative matches. We surveyed a convenience sample of GRF service participants to understand the prevalence of discoveries and associated experiences. Almost half (46%) of the 23,196 respondents had participated in GRF services only for non-specific reasons that included interest in building family trees and general curiosity. However, most (82%) also learned the identity of at least one genetic relative. Separately, most respondents (61%) reported learning something new about themselves or their relatives, including potentially disruptive information such as that a person they believed to be their biological parent is in fact not or that they have a sibling they had not known about. Respondents generally reported that discovering this new information had a neutral or positive impact on their lives, and most had low regret regarding their decision to participate in GRF services. Yet some reported making life changes as a result of their discoveries. Compared to respondents making other types of discoveries, those who learned that they were donor conceived reported the highest decisional regret and represented the largest proportion reporting net-negative consequences for themselves. Our findings indicate that discoveries from GRF services may be common and that the consequences for individuals, while generally positive, can be far-reaching and complex.

Co-constructing ancestry through direct-to-consumer genetic testing

Direct-to-consumer (DTC) genetic ancestry tests offered via the internet supposedly uncover the ancestry of those tested. While these tests might be seen as a means to find a biologically inscribed and fixed genealogy, this paper explores how companies and customers co-construct ancestry through genetic ancestry testing. The study draws on a review of relevant literature, qualitative interviews with experts and stakeholders, a website analysis, and an autoethnographic self-observation. It shows how DTC genetic testing companies create specific concepts of ancestry in their marketing, development of specific databases, and presentation of results, but also how users interpret and incorporate their results into their own genealogies and lives. Looking at the potential social impact of DTC ancestry testing, the paper questions its categorization as recreational activity or entertainment.

A Qualitative Study to Develop a Privacy and Nondiscrimination Best Practice Framework for Personalized Wellness Programs.

Employers in the United States (US) increasingly offer personalized wellness products as a workplace benefit. In doing so, those employers must be cognizant of not only US law but also European Union (EU) law to the extent that the EU law applies to European immigrants or guest workers in the US. To the extent that wellness programs are implemented in either public health or employment contexts within the US and/or EU, sponsors of these programs can partner with direct-to-consumer (DTC) genetic testing companies and other digital health companies to generate, collect, and process sensitive health information that are loosely or partially regulated from a privacy and nondiscrimination standpoint. Balancing claims about the benefits of wellness programs are concerns about employee health privacy and discrimination and the current unregulated nature of consumer health data. We qualitatively explored the concerns and opinions of public and legislative stakeholders in the US to determine key themes and develop privacy and nondiscrimination best practices. Key themes emerged as promoting a culture of trust and wellness. Best practices within these themes were: (1) have transparent and prominent data standards and practices, (2) uphold employee privacy and nondiscrimination standards, (3) remove penalties associated with biometric outcomes and nondisclosure of sensitive health information, (4) reward healthy behavior regardless of biometric outcomes, and (5) make program benefits accessible regardless of personal status. Employers, DTC genetic testing companies, policymakers, and stakeholders broadly should consider these themes and best practices in the current absence of broad regulations on nondiscriminatory workplace wellness programs.

Bringing 23andMe Into the Human Genetics Classroom

Research has shown that using a direct‐to‐consumer (DTC) genetic test in a genetics course enhances student performance (Adams 2016, Linderman 2018, Weber 2015, Weitzel 2016). I incorporated the 23andMe Health+Ancestry kit into my upper‐class undergraduate BIOL351 Human Genetics and Genomics course at Earlham College in 2018. Students opted in and were given informational forms, consent documentation and a list of local genetic counselors (approved by the college IRB, Parker and Grubs 2014). Students were never required to share their personal results in the classroom. Throughout the semester, I identified 23andMe tests that aligned with the disorders we studied. Students were asked to complete a scaffolded assignment about DTC genetic testing companies, beginning with an understanding of 23andMe’s privacy policy, extending to analysis of 11 DTC genetic testing companies’ validity (ranging from Ancestry.com to Vinome), culminating in the creation and presentation of infographics to the general public in collaboration with our local Joseph Moore Museum. Students responded favorably in course evaluations. Of the 7 evaluations submitted (9 total students), 4 relayed that 23andMe was the most positive part of the course, stating “Seeing my own results … helped broaden my understanding of the subject;” “the 23andMe opportunity was very positive;” “23andMe … helped me to relate more to the material.” Here I present materials and projects that will help you incorporate DTC genetic testing into your own genetics course.Support or Funding InformationEmmett M SmithEarlham College, Richmond IN Smithem3@earlham.edu

Family Ties: The Familial Privacy Implications of Direct to Consumer Genetic Testing

Direct to consumer (DTC) genetic testing has recently become a popular trend in the United States. There are countless private actors that could have an interest in the genetic data that has been collected and interpreted by DTC genetic testing companies, such as 23andMe. For instance, what would happen if a private entity were to acquire this genetic information through mergers and acquisitions, contracts of adhesion, or a data breach? This expansive violation of privacy will not only directly affect those who have voluntarily provided online genetic testing sites with their genetic information, but blood relatives who inherently share similar DNA will be implicitly affected as well. Modern genomics now allows researchers to “fill in the blanks” of a family tree based on one family member’s genetic sequence. This article seeks to focus on civil remedies and regulatory protections regarding familial third parties' privacy implications in the event of the access, sharing, or disclosure of the contributing sample owner's genetic information. With the last landmark piece of federal legislation pertaining to genetic privacy being passed nearly 12 years ago, these relatives of the contributing sample owner may only be left with ineffective civil remedies for the nonconsensual use, obtention, and/or public disclosure of an appreciable amount of their genetic information. This Article tracks the evolution of DTC genetic testing and the vulnerability of the private and sensitive health information that has been acquired and analyzed for millions of consumers. It also highlights the feasibility and inadequacies of civil remedies for third party relatives in the event that their genetic information is implicitly shared as a result of the disclosure of the contributing owner's genetic sample.

Direct-to-Consumer Genetic Testing Data Privacy: Key Concerns and Recommendations Based on Consumer Perspectives.

Direct-to-consumer genetic testing (DTC-GT) companies are engaging health consumers in unprecedented ways and leveraging the genetic information they collect to further engage health companies. This has produced controversy about DTC-GT consumer expectations, standards, and perceptions of privacy. In this commentary, we highlight recent events involving DTC-GT companies and controversy about privacy that followed those events and discuss recent studies that have explored DTC-GT consumer concerns about privacy. We discuss DTC-GT company standards of upholding consumer privacy and the general accessibility of DTC-GT company terms of use agreements and privacy policies that are written at reading levels above that of many consumers. We conclude that broader discussions and more research are needed to identify DTC-GT consumer concerns about and expectations of privacy. We anticipate that our recommendations will advance discussions on consumer privacy expectations and protections in an era of increasing engagement in DTC-GT.

Direct-to-consumer raw genetic data and third-party interpretation services: more burden than bargain?

The latest response to consumers’ increased demand for accessible genetic health information is the US Food and Drug Administration (FDA)’s recent approval of 23andMe’s direct-to-consumer (DTC) genetic test for the three common BRCA1 and BRCA2 pathogenic variants found in the Ashkenazi Jewish population.1 23andMe and other DTC genetic testing companies officially report out ancestry, trait, and some health information, while also providing consumers with files of their raw genetic data. Up to 62% of consumers use third-party applications to interpret the raw data and health information not included in companies’ reports.2 Little data exists on the nature and prevalence of clinical follow up of third-party raw genetic data interpretation, nor on the psychosocial impact on the consumer and their families.3 This information is of timely importance as a recent study suggests that 40% of genetic variations within DTC raw data sent for clinical confirmation are false positives.4 This raises many questions about the impact of DTC genetic testing and third-party interpretation tools, including the appropriate use of healthcare resources, clinical utility, provider and patient understanding of limitations, and psychological impact on consumers. In this commentary, we present four case vignettes from cardiovascular genetics clinics to bring awareness to possible harms of DTC raw data interpretation. Future studies investigating the breadth and frequency of cases such as these are required to understand the scope of this harm.

Paternity testing under the cloak of recreational genetics.

Direct-to-consumer (DTC) internet companies are selling widely advertised and highly popular genetic ancestry tests to the broad public. These tests are often classified as falling within the scope of so-called 'recreational genetics', but little is known about the impact of using these services. In this study, a particular focus is whether minors (and under what conditions) should be able to participate in the use of these DTC tests. Current ancestry tests are easily able to reveal whether participants are related and can, therefore, also reveal misattributed paternity, with implications for the minors and adults involved in the testing. We analysed the publicly available privacy policies and terms of services of 43 DTC genetic ancestry companies to assess whether minors are able to participate in testing DTC genetic ancestry, and also whether and how companies ethically account for the potential of paternity inference. Our results indicated that the majority of DTC genetic ancestry testing companies do not specifically address whether minors are able to participate in testing. Furthermore, the majority of the policies and terms of services fail to mention the vulnerability of minors and family members in receiving unexpected information, in particular, in relation to (misattributed) paternity. Therefore, recreational genetics carries both the risk of unintentionally revealing misidentified paternity, and also the risk that fathers will deliberately use these services to test their children's paternity without revealing their intentions to the mother or any other third party.

All your data (effectively) belong to us: data practices among direct-to-consumer genetic testing firms.

Direct-to-consumer genetic testing (DTC-GT) has become a convenient method to help people to understand their genetic makeup. Owing in part to concerns regarding confidentiality, privacy, and secondary use of data, professional and government bodies created guidelines to promote transparency among these companies. Using a comprehensive and systematic approach, this study assessed DTC-GT company compliance with international transparency guidelines. A framework analysis was performed on 30 DTC-GT health and/or ancestry websites identified using a US-based online search strategy during the summer of 2015. A codebook was developed from a synthesis of relevant guidelines from seven DTC-GT guideline documents and applied to each website. Although most companies met guidelines related to transparency regarding security protocols, storage procedures, and third-party disclosures, few met guidelines regarding sharing risks from data disclosures. Additionally, few companies disclosed how long data would be kept for services or research. Use of data for research was frequently mentioned only in privacy policies and terms of service documents, and only two-thirds of companies required an additional consent to use consumer data for health-related research. Our analysis shows that DTC-GT companies do not consistently meet international transparency guidelines related to confidentiality, privacy, and secondary use of data.Genet Med advance online publication 22 September 2016.

Ethical issues in consumer genome sequencing: Use of consumers' samples and data

High throughput approaches such as whole genome sequencing (WGS) and whole exome sequencing (WES) create an unprecedented amount of data providing powerful resources for clinical care and research. Recently, WGS and WES services have been made available by commercial direct-to-consumer (DTC) companies. The DTC offer of genetic testing (GT) has already brought attention to potentially problematic issues such as the adequacy of consumers' informed consent and transparency of companies' research activities. In this study, we analysed the websites of four DTC GT companies offering WGS and/or WES with regard to their policies governing storage and future use of consumers' data and samples. The results are discussed in relation to recommendations and guiding principles such as the “Statement of the European Society of Human Genetics on DTC GT for health-related purposes” (2010) and the “Framework for responsible sharing of genomic and health-related data” (Global Alliance for Genomics and Health, 2014). The analysis reveals that some companies may store and use consumers' samples or sequencing data for unspecified research and share the data with third parties. Moreover, the companies do not provide sufficient or clear information to consumers about this, which can undermine the validity of the consent process. Furthermore, while all companies state that they provide privacy safeguards for data and mention the limitations of these, information about the possibility of re-identification is lacking. Finally, although the companies that may conduct research do include information regarding proprietary claims and commercialisation of the results, it is not clear whether consumers are aware of the consequences of these policies. These results indicate that DTC GT companies still need to improve the transparency regarding handling of consumers' samples and data, including having an explicit and clear consent process for research activities.

Reconceptualizing Consent for Direct-to-Consumer Health Services

The market for direct-to-consumer (DTC) health services continues to grow rapidly with former patients converting to customers for the opportunity to purchase varied diagnostic tests without the involvement of their clinician. For the first time a DTC genetic testing company is advertising health-related reports "that meet [Food and Drug Administration] standards for being clinically and scientifically valid." Ethicists and regulatory agencies alike have recognized the need for a more informed transaction in the DTC context, but how should we classify a commercial transaction for something normally protected by a duty of care? How can we assure informed agreements in an industry with terms and conditions as varied as the services performed? The doctrine of "informed consent" began as an ethical construct building on the promise of beneficence in the clinical relationship and elevating the principle of autonomy--but in the DTC context should we hold providers to legal standards of informed consent and associated medical malpractice liability, or contractual obligations where consumers would seek remedy for breach? This Article analyzes the fine balance that must be struck in an industry where companies are selling services for entertainment or non-medical purposes that possess the capacity to produce serious and disquieting medical information. It begins by reviewing current standards of consent in the clinical setting from both a legal and ethical perspective and then lays forth current standards for DTC consent using two currently controversial case studies: that of keepsake fetal ultrasound and genetic testing. DTC keepsake ultrasound and genetic testing providers attempt to de-medicalize the devices used for these procedures from their intended medical uses to non-medical uses. But while keepsake ultrasound is marketed as "intended for entertainment purposes only," it can provide medical information as an incidental finding. 23andMe currently purports to be the only DTC genetics service that "includes" reports that meet FDA qualifications, despite disclaimers of intent to "provide medical advice." The attempted de-medicalization of these devices, therefore, has not been fully transformative, and DTC providers should have more robust ethical and legal duties than the average goods and services seller. This Article delineates these responsibilities, beginning with ethical duties surrounding marketing, entering into, and providing DTC services. It then turns to the legal paradigms necessary to enable, or at least allow for, DTC providers to meet these ethical obligations. While it argues that contractual, as opposed to fiduciary, requirements are most appropriate and that waivers of liability will likely be upheld, it also advocates for a heightened expectation of disclosure during contracting.

Misinterpretation of TPMT by a DTC Genetic Testing Company

23andme has suspended marketing of health-related reports due to US Food and Drug Administration approval violations. This has fostered discussions on the actual risks associated with consumer use of these reports. In the case described below, rare genotypes for the gene encoding thiopurine methyltransferase (TPMT) were misinterpreted by a direct-to-consumer (DTC) company, and risk calculations for breast cancer were offered when accuracy was not possible from the available information. Politics aside, these examples illustrate risks associated with DTC genetic testing without professional interpretation.

Time to Get Serious about Privacy Policies: The Special Case of Genetic Privacy

Genetic information is widely recognised as being particularly sensitive personal information about an individual and his or her family. This article presents an analysis of the privacy policies of Australian companies that were offering direct-to-consumer genetic testing services in 2012–13. The results of this analysis indicate that many of these companies do not comply with the Privacy Act 1988 (Cth), and will need to significantly reassess their privacy policies now that significant new amendments to the Act have come into force. Whilst the Privacy Commissioner has increased powers under the new amendments, the extent to which these will mitigate the deficiencies of the current regime in relation to privacy practices of direct–to-consumer genetic testing companies remains unclear. Accordingly, it may be argued that a privacy code for the direct-to-consumer genetic testing industry would provide clearer standards. Alternatively it may be time to rethink whether a sui generis approach to protecting genetic information is warranted.

Perceptions of Genetic Testing for Personalized Nutrition: A Randomized Trial of DNA-Based Dietary Advice

Background/Aims: Direct-to-consumer (DTC) genetic tests have facilitated easy access to personal genetic information related to health and nutrition; however, consumer perceptions of the nutritional information provided by these tests have not been evaluated. The objectives of this study were to assess individual perceptions of personalized nutrition and genetic testing and to determine whether a personalized nutrition intervention modifies perceptions. Methods: A double-blind, parallel-group, randomized controlled trial was conducted among healthy men and women aged 20-35 years (n = 138). Participants in the intervention group (n = 92) were given a report of DNA-based dietary advice and those in the control group (n = 46) were given a general dietary advice report. A survey was completed at baseline and 3 and 12 months after distributing the reports to assess perceptions between the two groups. Results: No significant differences in perceptions of personalized nutrition and genetic testing were observed between the intervention and control group, so responses of both groups were combined. As compared to baseline, participant responses increased significantly toward the positive end of a Likert scale at 3 months for the statement ‘I am interested in the relationship between diet and genetics' (mean change ± SD: 0.28 ± 0.99, p = 0.0002). The majority of participants indicated that a university research lab (47%) or health care professional (41%) were the best sources for obtaining accurate personal genetic information, while a DTC genetic testing company received the fewest selections (12%). Most participants (56%) considered dietitians to be the best source of personalized nutrition followed by medical doctors (27%), naturopaths (8%) and nurses (6%). Conclusions: These results suggest that perceptions of personalized nutrition changed over the course of the intervention. Individuals view a research lab or health care professional as better providers of genetic information than a DTC genetic testing company, and registered dietitians are considered to be the best providers of personalized nutrition advice.

Attitudes About Regulation Among Direct-to-Consumer Genetic Testing Customers

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.

Genetic Counseling and the Ethical Issues Around Direct to Consumer Genetic Testing

Over the last several years, direct to consumer(DTC) genetic testing has received increasing attention in the public, healthcare and academic realms. DTC genetic testing companies face considerable criticism and scepticism,particularly from the medical and genetic counseling community. This raises the question of what specific aspects of DTC genetic testing provoke concerns, and conversely,promises, for genetic counselors. This paper addresses this question by exploring DTC genetic testing through an ethic allens. By considering the fundamental ethical approaches influencing genetic counseling (the ethic of care and principle-based ethics) we highlight the specific ethical concerns raised by DTC genetic testing companies. Ultimately,when considering the ethics of DTC testing in a genetic counseling context, we should think of it as a balancing act. We need careful and detailed consideration of the risks and troubling aspects of such testing, as well as the potentially beneficial direct and indirect impacts of the increased availability of DTC genetic testing. As a result it is essential that genetic counselors stay informed and involved in the ongoing debate about DTC genetic testing and DTC companies. Doing so will ensure that the ethical theories and principles fundamental to the profession of genetic counseling are promoted not just in traditional counseling sessions,but also on a broader level. Ultimately this will help ensure that the public enjoys the benefits of an increasingly genetic based healthcare system.

Is there a doctor in the house? : The presence of physicians in the direct-to-consumer genetic testing context.

Over the last couple of years, many commercial companies, the majority of which are based in the USA, have been advertising and offering direct-to-consumer (DTC) genetic testing services outside of the established health care system, and often without any involvement from a health care professional. In the last year, however, a number of DTC genetic testing companies have changed their provision model such that consumers must now contact a health care professional before being able to order the genetic testing service. In discussing the advent of this new model of service provision, this article also reviews the ethical and social issues surrounding DTC genetic testing and addresses the potential motivations for change, some barriers to achieving truly appropriate medical supervision and the present reality of DTC genetic testing for some psychiatric and neurological disorders. Since the advent of these commercial activities, critics have pointed a finger at the lack of medical supervision surrounding these services. The discussion herein, however, reveals how difficult it may be, despite the addition of a physician, to actually achieve adequate medical supervision within the present context of DTC genetic testing.