Consumer Genetic Testing Research Articles

Test-takers' perspectives on consumer genetic testing for hereditary cancer risk.

With few exceptions, research on consumer genetic testing for hereditary cancer risk has focused on tests with limited predictive value and clinical utility. Our study advances the existing literature by exploring the experiences and behaviors of individuals who have taken modern consumer genetic tests for cancer susceptibility that, unlike earlier tests, screen for medically significant variants. We interviewed 30 individuals who had undergone consumer genetic testing for hereditary cancer risk between 2014 and 2019. We explored participants' pre-test sentiments (7 items), experiences receiving results (5 items), behavioral and health-related changes (6 items), and attitudes and beliefs (3 items). Data were analyzed for thematic content. Most participants reported a personal (n = 6) and/or family history (n = 24) of cancer, which influenced their choice to pursue testing. Before testing, most participants did not consult with a physician (n = 25) or receive genetic counseling (n = 23). Nevertheless, the majority felt that they understood test-related information (n = 20) and their results (n = 20), though a considerable number reported experiencing negative emotions related to their results. Most also shared their results with family members (n = 27). Overall, participants' attitudes towards consumer genetic testing for cancer risk were predominantly positive (n = 23). This study offers new insights into how individuals use and perceive modern consumer genetic tests for hereditary cancer risk, focusing on their perceptions of the risks, benefits, and limitations of these services. Understanding test-takers' perspectives can potentially inform improvements aimed at ensuring that tests meet users' needs and deliver clinically valuable genetic risk assessments.

The Value of Genetic Data in Predicting Preferences: A Study of Food Taste

The exponential expansion of consumer genetic testing has led to an accumulation of massive genomic data sets owned by governments and firms. The prospect of leveraging genetic data for enhancing consumers' health, well-being, and satisfaction through improved personalization, segmentation, and targeting is promising. Nonetheless, this potential has not been studied empirically to date, and it is unknown whether and when firms should invest resources into incorporating genetic data into strategies and processes. The authors address this gap in a study of taste preferences, important drivers of food and beverage consumption. Using a large U.K.-based sample, they find that with sample sizes currently available, genetic data are expected to significantly improve prediction of taste preferences above traditionally used metrics such as demographics, behavioral variables, and even past consumption, especially for tastes that are uncommon in the local diet (e.g., spicy, sour), as they are less expressed behaviorally. The authors conclude that genetic data show immense promise for prediction-based applications when other data sources are limited or uninformative. These findings could have significant implications for public health initiatives, potentially aiding development of personalized nutrition plans and dietary interventions.

Personalised lifestyle recommendations for type 2 diabetes: Design and simulation of a recommender system on UK Biobank Data.

Mobile health applications, which employ wireless technology for healthcare, can aid behaviour change and subsequently improve health outcomes. Mobile health applications have been developed to increase physical activity, but are rarely grounded on behavioural theory and employ simple techniques for personalisation, which has been proven effective in promoting behaviour change. In this work, we propose a theoretically driven and personalised behavioural intervention delivered through an adaptive knowledge-based system. The behavioural system design is guided by the Behavioural Change Wheel and the Capability-Opportunity-Motivation behavioural model. The system exploits the ever-increasing availability of health data from wearable devices, point-of-care tests and consumer genetic tests to issue highly personalised physical activity and sedentary behaviour recommendations. To provide the personalised recommendations, the system firstly classifies the user into one of four diabetes clusters based on their cardiometabolic profile. Secondly, it recommends activity levels based on their genotype and past activity history, and finally, it presents the user with their current risk of developing cardiovascular disease. In addition, leptin, a hormone involved in metabolism, is included as a feedback biosignal to personalise the recommendations further. As a case study, we designed and demonstrated the system on people with type 2 diabetes, since it is a chronic condition often managed through lifestyle changes, such as physical activity increase and sedentary behaviour reduction. We trained and simulated the system using data from diabetic participants of the UK Biobank, a large-scale clinical database, and demonstrate that the system could help increase activity over time. These results warrant a real-life implementation of the system, which we aim to evaluate through human intervention.

Polygenic Scores in the Direct-to-Consumer Setting: Challenges and Opportunities for a New Era in Consumer Genetic Testing.

Direct-to-consumer (DTC) genetic tests have generated considerable scholarly attention and public intrigue. Although the current consumer genetic testing regime relies on the reporting of individual variants of interest to consumers, there has recently been interest in the possibility of integrating polygenic scores (PGS), which aggregate genetic liability for disease across the entire genome. While PGS have thus far been extensively explored as clinical and public health tools, the use of PGS in consumer genetic testing has not yet received systematic attention, even though they are already in use for some consumer genetic tests. In this narrative review, we highlight the ethical, legal, and social implications of the use of PGS in DTC genetic tests and synthesize existing solutions to these concerns. We organize these concerns into three domains: (1) industry variation; (2) privacy and commercialization; and (3) patient safety and risk. While previously expressed concerns in these domains will remain relevant, the emergence of PGS-based DTC genetic tests raises challenges that will require novel approaches.

What makes a good life: using theatrical performance to enhance communication about polygenic risk scores research in patient and public involvement.

The aim of this patient and public involvement and engagement (PPIE) work was to explore improvised theatre as a tool for facilitating bi-directional dialogue between researchers and patients/members of the public on the topic of polygenic risk scores (PRS) use within primary or secondary care. PRS are a tool to quantify genetic risk for a heritable disease or trait and may be used to predict future health outcomes. In the United Kingdom (UK), they are often cited as a next-in-line public health tool to be implemented, and their use in consumer genetic testing as well as patient-facing settings is increasing. Despite their potential clinical utility, broader themes about how they might influence an individual's perception of disease risk and decision-making are an active area of research; however, this has mostly been in the setting of return of results to patients. We worked with a youth theatre group and patients involved in a PPIE group to develop two short plays about public perceptions of genetic risk information that could be captured by PRS. These plays were shared in a workshop with patients/members of the public to facilitate discussions about PRS and their perceived benefits, concerns and emotional reactions. Discussions with both performers and patients/public raised three key questions: (1) can the data be trusted?; (2) does knowing genetic risk actually help the patient?; and (3) what makes a life worthwhile? Creating and watching fictional narratives helped all participants explore the potential use of PRS in a clinical setting, informing future research considerations and improving communication between the researchers and lay members of the PPIE group.

Community-led risk analysis of direct-to-consumer whole-genome sequencing.

Direct-to-consumer (DTC) genetic testing is cheaper and more accessible than ever before; however, the intention to combine, reuse, and resell this genetic information as powerful data sets is generally hidden from the consumer. This financial gain is creating a competitive DTC market, reducing the price of whole-genome sequencing (WGS) to under 300 USD. Entering this transition from single-nucleotide polymorphism-based DTC testing to WGS DTC testing, individuals looking for access to their whole-genomic information face new privacy and security risks. Differences between WGS and other methods of consumer genetic tests are left unexplored by regulation, leading to the application of legal data anonymization methods on whole-genome data, and questionable consent methods. Large representative genomic data sets are important for research and improve the standard of medicine and personalized care. However, these data can also be used by market players, law enforcement, and governments for surveillance, population analyses, marketing purposes, and discrimination. Here, we present a summary of the state of WGS DTC genetic testing and its current regulation, through a community-based lens to expose dual-use risks in consumer-facing biotechnologies.

Perspectives on Consumer and Clinical Genetic Testing Education among Medical Students in West Texas.

There is a popular trend for genetic test companies to market genetic screenings to identify detrimental mutations directly to consumers. As a result, there has been an increase in the number of patients wanting to discuss the results of their personal genetic tests with their physician. In turn, the medical education community has recognized a need to provide medical staff and patients with resources to interpret and act on personal genetic data. Most medical students and residents lack the requisite knowledge to interpret and manage patient-provided individualized genetic testing. This has prompted a growing interest among medical students in learning more about genetic testing and how to counsel their patients on this information. Consequently, early educational exposure to clinical genetic testing and counseling would benefit medical education training programs. In this study, we examine the perceptions of medical students in West Texas with regard to clinical genetic testing.

Foreign Experience in the Legal Regulation of Direct Consumer Genetic Testing

Genomics methods and the results of genomic research are widely used in many areas of human activity. However, the rapid development of technologies leads to the fact that legal regulation does not take into account all their opportunities and risks. Thus, in recent years, the so-called direct-to-consumer genetic testing (DCGT), a type of genetic testing performed at the initiative of the consumer and for his personal purposes, has become widespread. The range of issues that the tests touch on is very wide: from the origin and family ties determination to recommendations for choosing an occupation and hobbies. In Russia, this industry is currently rapidly developing. At the same time, there is no legal regulation of the industry. The paper examines the foreign experience of DCGT services regulation. The authors show significant influence of the concept of "genetic exclusivity" on the legislation regulating this industry. However, the integrity of approaches to the regulation and the depth of consideration of controversial issues vary greatly. For the United States—the leader in both the number of companies providing DCGT services and the number of their clients—a self-regulation strategy remains the most characteristic one (at least until recently). Countries such as France, Germany, and Israel have adopted the tough stance against DCGTs, effectively prohibiting genetic testing without prescription. This is preconditioned by both the objective shortcomings of genetic tests and the originality of the historical past and social structure of these countries. We believe that the optimal way for Russia is self-regulation with the provision of the broadest and most objective information about the possibilities and limitations of DCGT on the part of professional communities (geneticists, bioethics specialists).

A survey of lifestyle habits, physician counseling, and direct-to consumer genetic testing in patients with hereditary hemochromatosis

Introduction and objectivesThe goal of this study was to assess lifestyle habits and physician counseling of patients with hereditary hemochromatosis (HH), and determine the prevalence of direct-to-consumer (DTC) genetic testing. Materials and methodsA 52-question survey was created to collect information on lifestyle habits and physician counseling among patients with HH, and the use of DTC genetic testing of patients referred to a clinic for evaluation of HH. A multivariate logistic regression model was applied to identify predictors of DTC genetic testing use. ResultsThe survey was e-mailed to 379 patients, of which 101 responded (26.6%). Among patients with HH, 37% reported alcohol use more than once weekly and 50% reported red meat consumption. The use of a vitamin C supplement was reported by 38.9% of participants. Among patients with living children and siblings, physicians failed to recommend HH screening 15.3% and 21.2% of the time respectively. Thirty-one patients reported DTC genetic testing, of which 46.7% (14/31) reported their DTC genetic test screened for HH. Six (19%) of those patients were prompted to see a specialist in HH based on the results. ConclusionsAmong patients with HH, lifestyle habits that may impact iron stores are common, but not all receive appropriate counseling. Direct-to-consumer genetic testing is common, and physicians should be aware of its limitations when patients seek further evaluation for HH based on their test results.

Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation

ObjectiveTo determine whether the sensitivity and specificity of SNP chips are adequate for detecting rare pathogenic variants in a clinically unselected population.DesignRetrospective, population based diagnostic evaluation.Participants49 908 people recruited to...

Genetic counseling following direct-to consumer genetic testing: Consumer perspectives.

As the use and scope of direct-to-consumer genetic testing (DTC GT), also becoming known as consumer-driven genetic testing, increases, consumers may seek genetic counseling to understand their results and determine healthcare implications. In this study, we interviewed individuals who sought genetic counseling after receiving DTC GT results to explore their motivations, expectations, and experiences. Participants were recruited from the Impact of Personal Genomics (PGen) Study, a longitudinal cohort study of DTC GT customers. We interviewed 15 participants (9 females, mean age = 38 years) by telephone and analyzed the double-coded transcripts using qualitative methods. Motivations for genetic counseling included family and personal health histories, concern and confusion about results, and information-seeking; of note, one-third of our interview participants had Ehlers-Danlos syndrome Type III (hypermobility type). Expectations of genetic counseling sessions were high. Participants generally saw DTC GT results as valid and potentially impactful for their healthcare, wanted more thorough explanations in "layman's terms," a pooling of their results with their family and personal health history and a "game plan." Several participants had already accessed online resources, including resources typically used by genetics clinicians. Our results point to several elements of a successful DTC GT genetic counseling session: 1) effective contracting when starting the clinic visit, especially determining motivations for genetic counseling, results that are concerning/confusing and resources already accessed; 2) ascertainment and management of expectations and clearly communicating if and why all results may not be reviewed; 3) explaining how DTC GT differs from clinical genetic testing and why additional testing may not be indicated and 4) listening to (not dismissing) patient concerns about their results. For those patients who seek genetic counseling about DTC GT results, the findings from our study can help inform case preparation and provision of genetic counseling.

Genotype concordance and polygenic risk score estimation across consumer genetic testing data.

The consumer genomics industry is steadily growing and delivering genetic information to over 10 million individuals.Yet, the implications of using data from different services remain unclear. We investigated the genotyped sites, concordance, and genetic risk estimation using data from three consumer services-two single nucleotide polymorphism (SNP)-array based and one sequencing based. In an N-of-one setting, we found the three services genotyped predominantly distinct sets of sites. While there was a high concordance between overlapping sites of the two SNP-array services (99.6%), there was a lower concordance between these services and a low-pass whole-genome service (73.0%). The discrepancy between the three sets of data resulted in different APOE genotypes and genetic risk scores of Alzheimer's disease. Our results demonstrate genotype results across consumer genomics platforms may lead to different genetic risk estimates, highlighting the need for careful quality control and interpretation.

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.

The Myth of 'Anonymous' Gamete Donation in the Age of Direct-to-Consumer Genetic Testing

The United States has long had a history of allowing anonymous gamete donation. Even as other countries have embraced a trend towards donor-conceived children receiving open access to information about their genetic origins, donor anonymity is the norm in the United States. The vast majority of sperm donors in the United States sell their sperm with the understanding that their identity will not be revealed. In one study, almost one third of current donors indicated that they would no longer sell their sperm if anonymity was not preserved.However, this so-called anonymity is merely a facade given the increasingly widespread use of direct-to-consumer (“DTC”) genetic testing. This chapter describes why gamete donor anonymity is a myth and how claiming such anonymity is harmful to both donors and those who use donor gametes. This chapter proceeds as follows: Part II of this chapter discusses how consumer genetic testing has overturned the promise of gamete donor anonymity. Part III describes the history and state of sperm donation in the United States, as well as the reasons often given for preserving donor anonymity by donors, those who use donor sperm, and sperm banks. This Part also discusses the business of so-called donation. Part IV provides the legal and governance landscape for sperm banks and sperm donations in the United States. Part V suggests that at a minimum, sperm banks and the assisted reproduction industry should address the anonymity issue with vigorous self-policing.

Precision health: a primer for physiotherapists

Health care provision is changing, and so is the information we use to guide decisions related to patient care. Increasingly, health practitioners will need to deal with genetics and ‘big data’ in the context of clinical practice. Indeed, commercial packages for consumer genetic testing are already widely available, and devices enabling self-monitoring of health are in daily use by many of our patients. “Precision health” (distinct from “precision medicine”) provides a model, which allows us to bring our genome together with our external environment (lifestyles, societal influences etc.) and eventually, our transient internal environment (reflected by ‘omics’), to optimise disease prevention and care. Such advancements have given rise to a need for primary health care clinicians to understand basic genetic and precision health concepts. This editorial meets this need, serving as a primer by providing the following: an introduction to current primary health challenges; description of the key elements of the precision health model; an overview of basic genetic, and associated research concepts; a snapshot of some clinically pertinent research in the context of precision health; and a brief discussion of challenges and future directions.

Consistency of Direct-to-Consumer Genetic Testing Results Among Identical Twins

BackgroundThe purpose of this study was to evaluate the consistency of 3 commonly used direct-to-consumer genetic testing kits. Genetic testing kits are widely marketed by several companies but the consistency of their results is unclear. Because identical twins share the same DNA, their genetic testing results should provide insight into test consistency. MethodsForty-two identical twins (21 pairs) provided samples for 3 testing companies. Outcomes were concordance of ancestry results when twin pairs were tested by the same company and the same participant was tested by different companies. Concordance of 8 self-reported traits with 23andMe genetic analyses were also examined. ResultsConcordance of ancestry results when twin pairs were tested by the same company was high, with mean percentage agreement ranging from 94.5% to 99.2%. Concordance of ancestry results when participants were tested by 2 different companies was lower, with mean percentage agreement ranging from 52.7% to 84.1%. Concordance of trait results was variable, ranging from 34.1% for deep sleep and detached earlobes to 90.2% for cleft chin. ConclusionThe consistency of consumer genetic testing is high for ancestry results within companies but lower and more variable for ancestry results across companies and for specific traits. These results raise questions about the usefulness of such testing.

Direct to consumer versus clinical genetic testing.

There are approximately 250 direct to consumer (DTC) genetic testing companies marketing different testing options such as genetic health risk, carrier status, ancestry, wellness, traits, noninvasive prenatal genetic testing, athleticism, and many others. As a result, choosing the most appropriate test may be daunting when compared with a focused genetic test ordered by a clinician. A wealth of information may be discovered and care must be taken by both consumers and clinicians when deciphering test results. This column highlights considerations when proceeding forward with a DTC genetic test.

Emerging technologies for health information in dermatology: opportunities and drawbacks of web-based searches, social media, mobile applications, and direct-to-consumer genetic testing in patient care

Emerging technology is fundamentally changing how individuals interact with the health care system. Web-based searches, mobile applications, social media, and directto- consumer genetic testing companies are facilitating information exchange at a higher rate than ever before, creating a macroscopic shift in the mechanisms by which individuals seek health information. The visual nature of skin disease enables individuals to browse, share, and search based on images, adding another dimension to how dermatological information is transferred. These trends carry important implications on user health care behavior, and so it is vital for health care professionals to stay attuned to the morphing characteristics of their patients' health management in order to continue to provide high-quality, patient-centered care.

Therapeutic delivery: industry update covering October 2018.

This industry update covers the period from 1 to 31 October 2018 and is based on information sourced from company press releases, scientific literature, patents and various news websites. With the expiry in Europe of AbbVie's (IL, USA) principal patent on Humira this month, the first biosimilar versions of the drug have been launched. AstraZeneca (Cambridge, UK) announced that is has out-licensed two none core drugs to Grunenthal (Aachen, German), while Pfizer (NY, USA) announced the creation of a new company, set up in collaboration with Bain Capital (MA, USA) to exploit Pfizer's clinical and preclinical assets in the neuroscience field. In digital health, 23andMe (CA, USA) announced that the US FDA has authorized marketing of one of its consumer genetic tests, that assesses the genetic factors that affect drug metabolization, hence the safety and efficacy of some drugs. Novartis (Basel,Switzerland) continued to grow its activities in digital health with the creation of the Novartis Biome, an incubator and support program for early-stage companies in this area. Novartis also announced that it has filed applications in the EU and USA for the approval of siponimod, a drug targeting secondary progressive multiple sclerosis and Roche (Basel, Switzerland) gained FDA approval for an antiviral treatment for influenza. Janssen (Beerse, Belgium) announced it had won a label extension for its blood glucose-lowering drug, Invokana®, for the reduction of cardiovascular events in diabetes. Roche presented data at ECTRIMS, a major annual conference on multiple sclerosis (MS), held in Berlin, Germany this month (10-12 October 2018), showing the potential benefits of administering its drug, Ocrevus, earlier in the treatment pathway for MS compared with other standard treatment. At the same event, Celgene (NJ, USA) presented results from a survey that showed MS patients' concern around brain atrophy and cognitive loss in MS, highlighting that the disease has a neurodegenerative as well as an inflammatory component. Novartis also presented a significant amount of data supporting its marketed drugs as well as its development pipeline in the disease. This month, presentation of data from two studies at the American Academy of Ophthalmology annual meeting (27-30 October 2018, Chicago, IL, USA) further supporting the potential of eye scans in the early detection of Alzheimer's. A paper by a research team at the University of Rochester (NY, USA) demonstrated the feasibility of a new mechanism to transport drugs across the blood-brain barrier, which could help development more effective CNS drugs.

Clinical genetic testing in medical education

Although clinical geneticists have traditionally monopolized the administration of genetic tests, several genetic test companies have started producing affordable consumer tests for genetic screening and ancestry analysis. With genetic test kits readily available, patients are increasingly using personal genetic testing resources with the intention of sharing their results with their primary care physicians. Therefore, both medical professionals and patients need information and guidelines to interpret and act on personal genetic data. However, medical students, residents, and attending physicians have limited experience in handling the complexities involved in interpreting consumer genetic testing. Medical students, though, have shown significant interest in genetic testing and its application in their patients. Given the interest and need, medical education programs would best serve their students and patients through early education and training in clinical genetic testing.