Direct-to-Consumer Genomic Testing Through an Ethics Lens: Oncology Nursing Considerations.

BACKGROUND: The use of direct-to-consumer genomic testing (DTCGT) is increasing, but this testing may not be comprehensive and may lack clinical validity and utility. The ethical constructs of beneficence, nonmaleficence, justice, and autonomy provide a framework for coordinating the care of patients and their families. OBJECTIVES: This article provides an overview of the DTCGT process and reviews the ethical implications that affect clinical care. METHODS: A review of the literature was conducted using the following key words: genetics/genomics and direct-to-consumer testing. Common themes were identified, including test types, regulatory standards, marketing practices, ethics, privacy, and nursing implications. FINDINGS: An increased awareness of the clinical and ethical consequences of DTCGT is needed among healthcare providers and the general population. Oncology nurses can assist patients in navigating the field of genomics through consistent and comprehensive risk assessment, patient education about the risks and benefits of DTCGT, and referral to genomics professionals when appropriate.

Assessing the general public's view of direct-to-consumer (DTC) genetic testing and their interpretation of DTC website disclaimer messages.

The general public continues to show increased interest and uptake of Direct-to-Consumer (DTC) genetic testing. We conducted an online survey (N = 405) to assess genetics knowledge, interest, and outcome expectancy of DTC genetic testing before and after exposure to a sample DTC disclaimer message. Descriptive statistics were used to analyze the relationship between previous genetic knowledge, attitudes and self-reported systematic processing of a sample DTC disclaimer message, outcome expectancies, and interest to pursue DTC genetic testing. Increased genetic knowledge and more positive attitudes towards DTC genetic testing were associated with increased self-reported systematic processing of the DTC disclaimer message. Further, self-reported systematic processing of the DTC disclaimer message was associated with greater interest in pursuing DTC genetic testing but did not predict outcome expectancies. As DTC genetic testing continues to gain in popularity and usage, additional research is imperative to better understand participants' motivations and processing of the DTC disclaimer messages to improve the user experience.

A Review of the Legislation of Direct-to-Consumer Genetic Testing in China.

Direct-to-consumer genetic test (DTC-GT) has been developing into an enormous market in China. Though no existing laws are directly applicable to DTC-GT, relevant laws and regulations are gradually being improved. In this study, we discuss how China's legislative and juridical practices in the field of DTC-GT have led to it being strictly constrained. The continuous improvement of relevant private and public laws is increasingly strengthening the informed consent and data protection issues that are involved with DTC-GT.

Direct-to-consumer genetic tests providing health risk information: A systematic review of consequences for consumers and health services.

Direct-to-consumer genetic tests (DTC-GT) offer a variety of genetic health risk information. Understanding evidence of impacts is required for effective policy to protect consumers and healthcare services. We undertook a systematic review according to PRISMA guidelines, searching five literature databases for articles assessing analytic or clinical validity, or reporting consumer or healthcare professional experience with health risk information derived from DTC-GT, published between November 2014 and July 2020. We performed a thematic synthesis to identify descriptive and analytical themes. Forty-three papers met inclusion criteria. Many consumers submit raw DTC-GT data for third-party interpretation (TPI). DTC-GT sometimes report 'false positive' or incorrectly interpreted rare variants, or that such information can result from TPI. Consumers have high expectations of DTC-GT and TPI, and are broadly satisfied, although many do not act on results. A minority of consumers experience adverse psychological impacts. Healthcare consultations can be complex, and professionals have reservations about the validity and utility of DTC-GT-derived information. The contrast between consumer and health professional perceptions can result in mutual dissatisfaction with consultations. Health risk information from DTC-GT and TPI is broadly valued by consumers but presents complex challenges for healthcare services and some consumers.

Searching for secrets, searching for self: Childhood adversity, self-concept clarity, and the motivation to uncover family secrets through direct-to-consumer genetic testing.

Direct-to-consumer (DTC) genetic tests have become an attractive product for those hoping to gain insight into their health, ancestry, and biological relatedness. In some cases, test results are unexpected, and lead to the revelation of previously undisclosed family secrets. A subset of individuals may pursue testing explicitly for this purpose; however, the psychosocial processes underlying this motivation remain unexamined. Grounded in the literature on family secrecy, trauma, and the development of self-concept, we tested a hypothesized mediation model to provide insight into this motivation among a sample of 433 individuals in pursuit of DTC genetic testing. In line with the documented association between maladaptive family communication patterns and trauma exposure in childhood, we found that exposure to adverse childhood experiences was associated with the motivation to pursue DTC genetic testing for the purpose of uncovering family secrets. We also found evidence of an indirect effect through reduced self-concept clarity. These findings suggest that impaired identity formation processes may have played a role in transmitting the effect. Furthermore, the findings highlight a novel way in which family histories may contribute to DTC genetic testing motivations. Future examination of these and other psychosocial phenomena that contribute to DTC genetic testing will be crucial to consider as the tests become increasingly accessible, and as the information they can provide becomes increasingly comprehensive. Findings from this line of research could help to identify for whom and under what conditions DTC genetic testing benefits well-being, and the conditions under which the act of testing and receipt of results could have adverse psychosocial effects. These insights will be of interest to genetic counselors working in the field of DTC genetic testing, and those working with individuals and families affected by unexpected test results.

Addressing the feasibility of people of African descent finding living African relatives using direct-to-consumer genetic testing.

People of African descent use direct-to-consumer genomics services such as 23andMe and AncestryDNA for various family histories and health reasons, including identifying and interacting with the previously unknown living African genetic relatives. In this commentary, I argue that it is reasonable to consider that cousin pairs consisting of an African person and a descendant of an African person enslaved in the Americans during the Transatlantic Slave Trade (i.e., a person of African descent) have genealogical ancestors recent enough to be detected using autosomal DNA testing where the pair has shared ancestors in the range of 20-6 generations ago from the present.

Direct-to-consumer testing - benefits for consumers, people with disease and public health.

Direct-to-consumer (DTC) tests can be defined as any in-vitro diagnostic (IVD) test or, more broadly, any medical test using an IVD or medical device, that is marketed directly to consumers without involvement of a health care provider (HCP). Examples are pregnancy tests, alcohol breath tests, blood pressure measurements (medical device), coagulation tests (INR), self-monitoring of blood glucose, continuous glucose monitoring (medical device), HIV tests, HPV tests, SARS-CoV-2 antigen tests, or genetic tests. DTC tests fulfil various customer needs such as making rapid decisions (e.g. glucose monitoring for insulin dosing, SARS-CoV-2 antigen test, hormone test identifying fertile days, alcohol test), monitoring chronic conditions between consultations (e.g. diabetes, lipidaemia, hypertension), saving time and reducing consultations (e.g. INR, SARS-CoV-2 antigen test, blood pressure monitoring), screening for disease when no symptoms are present (e.g. occult blood, cholesterol, triglycerides, SARS-CoV2 antigen test), or maintaining privacy (e.g. pregnancy test, HIV test, HPV test, certain genetic tests). Further, DTC tests can reduce cost and expand access to care in countries with limited resources and can support healthcare systems in extraordinary circumstances such as a pandemic. Valid concerns about DTC testing need to be described, addressed and resolved with the help of authorities and regulators in collaboration with HCP and should not detract from the advantages DTC tests can provide. HCP should play a more prominent role in educating the public through mass media and social media on the proper use of DTC tests and help to pinpoint problem areas.

Avoiding Liability and Other Legal Land Mines in the Evolving Genomics Landscape.

This article reviews evolving legal implications for clinicians and researchers as genomics is used more widely in both the clinic and in translational research, reflecting rapid changes in scientific knowledge as well as the surrounding cultural and political environment. Professionals will face new and changing duties to make or act upon a genetic diagnosis, address direct-to-consumer genetic testing in patient care, consider the health implications of results for patients' family members, and recontact patients when test results change over time. Professional duties in reproductive genetic testing will need to be recalibrated in response to disruptive changes to reproductive rights in the United States. We also review the debate over who controls the flow of genetic information and who is responsible for its protection, considering the globally influential European Union General Data Protection Regulation and the rapidly evolving data privacy law landscape of the United States.

Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals' knowledge and views, and ethical and legal concerns.

Direct-to-consumer genetic testing (DTC-GT) is becoming increasingly widespread. The aim of this research was to systematically review the literature published on healthcare professionals' knowledge and views about DTC-GT, as an update to a 2012 systematic review. The secondary aim was to assess the knowledge and views of healthcare professionals on the ethical and legal issues pertaining to DTC-GT. A systematic search was performed to identify all relevant studies that have been conducted since 2012. Studies fulfilled the inclusion criteria if they were primary research papers conducted on healthcare professionals about their knowledge and views on health-related DTC-GT. PubMed, Embase, CINAHL, PsycINFO and Medline databases were searched from 2012 to May 2021. Title and abstract were screened, and full texts were reviewed by two study authors independently. New papers included were appraised and data were extracted on study characteristics, knowledge and views on DTC-GT, and ethical and legal issues. A narrative synthesis was conducted. Nineteen new papers were included, along with eight papers from the previous review. There was considerable variation in study participants with differing views, awareness levels, and levels of knowledge about DTC-GT. Genetic counsellors and clinical geneticists generally had more concerns, experience, and knowledge regarding DTC-GT. Ten ethical concerns and four legal concerns were identified. Healthcare professionals' knowledge and experience of DTC-GT, including awareness of DTC-GT ethical and legal concerns, have only minimally improved since the previous review. This emphasises the need for further medical learning opportunities to improve the gaps in knowledge amongst healthcare professionals about DTC-GT.

Outpatient Primary Care Genetic Testing Primer: What to Order and Testing Considerations.

The field of genetics has evolved rapidly over the last few decades, from testing methods to genetic diagnoses, bringing new genetic testing guidelines and considerations for health care providers. Overall geneticists are limited in number and availability, particularly in non-academic settings, and many patients first present to a primary care provider. Here, we aim to review various modalities of genetic testing, their indications, limitations, and other pretest considerations for the primary care provider. In addition, we comment on the limitations of direct-to-consumer (DTC) genetic testing, which has seen a rise in popularity among the general population.

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.

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.

Experiences of adolescents and their parents after receiving adolescents' genomic screening results.

There has been considerable debate over whether adolescents should have the opportunity to learn genetic information about adult-onset disease risk and carrier status without a clinical indication. Adolescents face increasing opportunities to learn more about such genetic risks through the return of secondary findings from clinical genomic testing, direct-to-consumer genetic testing, and research opportunities. However, little is known about the perspectives of adolescents who have received genomic screening results. We conducted separate qualitative interviews with 15 adolescents and their parents who enrolled in a research protocol where they decided which genomic screening results to receive for the adolescent for up to 32 conditions informed by 84 genes. The goal of these interviews was to explore the impact of adolescents learning genomic results without a clinical indication for screening. Of the participating dyads, four received positive results for a pathogenic/likely pathogenic (P/LP) variant for an autosomal dominant (AD) condition, five received carrier results for a heterozygous P/LP variant for an autosomal recessive (AR) condition, and six received negative results. An interpretive descriptive qualitative approach was used. Interview transcripts were coded using a guide developed by the study team based on themes that emerged from the interviews. Degree of recall and description of results, actionability, and emotional responses differed according to the types of results received. However, all participants were satisfied with their decision to learn results, and most did not report any lasting psychological harms. Participants adapted to genomic information about themselves, even after learning about unexpected increased risk for future health problems. Our findings support the position that, whenever possible, perspectives and wishes of adolescents should be strongly considered and respected in the decision-making process regarding genetic testing.

Issues surrounding consumer-bought food-allergy testing.

BACKGROUND: Allergy is increasingly reported by patients and members of the public, and there is evidence that the prevalence is increasing. Not all diagnoses have been made by clinicians, as direct-to-consumer (DTC) allergy tests are widely available online. AIM: To determine if DTC allergy tests are processed in accredited laboratories and utilize validated methods, while providing an overview of the DTC allergy tests available. METHODS: Internet searches using 'allergy test kit' and 'intolerance test' were performed to identify DTC food-allergy tests. Each company was contacted to enquire if they had ISO15189 accreditation, what methods of testing they used and what was the extent of individual clinical input used to guide the test requested or result interpretation. RESULTS: In total, 24 online companies providing DTC food-allergy testing were identified, of which 22 were contactable. One laboratory had ISO15189 accreditation, which was also the only laboratory using clinically recognized specific IgE testing and had a clinician involved in the process. Other laboratories used bioresonance or IgG and involved a nutritionist at most. CONCLUSION: Online DTC food-allergy tests are largely misleading to the consumer and provided by unaccredited laboratories using controversial methodology. The dermatologist must politely discount these results and assess the role of food allergy in a patient's skin disease on the merit of clinical history, supported by specific IgE testing as appropriate.

Prevalence of Alpha-1 Antitrypsin Deficiency, Self-Reported Behavior Change, and Health Care Engagement Among Direct-to-Consumer Recipients of a Personalized Genetic Risk Report.

BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is an autosomal co-dominant condition that predisposes to emphysema, cirrhosis, panniculitis, and vasculitis. Underrecognition has prompted efforts to enhance early detection and testing of at-risk individuals. Direct-to-consumer (DTC) genetic testing represents an additional method of detection. RESEARCH QUESTION: The study addressed three questions: (1) Does a DTC testing service identify previously undetected individuals with AATD? (2) What was the interval between initial AATD-related symptoms and initial diagnosis of AATD in such individuals? and (3) What was the behavioral impact of learning about a new diagnosis of AATD through a DTC test? STUDY DESIGN AND METHODS: In this cross-sectional study, 195,014 individuals responded to a survey within the 23andMe, Inc. research platform. RESULTS: Among 195,014 study participants, the allele frequency for the PI∗S and PI∗Z AATD variants was 21.6% (6.5% for PI∗Z and 15.1% for PI∗S); 0.63% were PI∗ZZ, half of whom reported having a physician confirm the diagnosis. Approximately 27% of those with physician-diagnosed AATD reported first becoming aware of AATD through the DTC test. Among those newly aware participants, the diagnostic delay interval was 22.3 years. Participants frequently shared their DTC test results with health care providers (HCPs) and the reported impact of learning a diagnosis of AATD was high. For example, 51.1% of PI∗ZZ individuals shared their DTC result with an HCP. The OR for PI∗ZZ smokers to report smoking reduction as a result of receiving the DTC result was 1.7 (95% CI = 1.4-2.2) compared with those without a Z allele and for reduced alcohol consumption this was 4.0 (95% CI = 2.6-5.9). INTERPRETATION: In this largest available report on DTC testing for AATD, this test, in combination with clinical follow-up, can help to identify previously undiagnosed AATD patients. Moreover, receipt of the DTC AATD report was associated with positive behavior change, especially among those with risk variants.

From proband to provider: is there an obligation to inform genetic relatives of actionable risks discovered through direct-to-consumer genetic testing?

Direct-to-consumer genetic testing is a growing phenomenon, fuelled by the notion that knowledge equals control. One ethical question that arises concerns the proband's duty to share information indicating genetic risks in their relatives. However, such duties are unenforceable and may result in the realisation of anticipated harm to relatives. We argue for a shift in responsibility from proband to provider, placing a duty on test providers in the event of identified actionable risks to relatives. Starting from Parker and Lucassen's (2004) 'joint account model', we adapt Kilbride's (2018) application of the rule of rescue and balance it against the relative's right not to know, placing responsibility on the providers of direct-to-consumer genetic testing. Where the risk of disease to a relative is actionable, we argue providers ought to share results even in the face of the proband's objections. Confidentiality issues are navigated by a pre-emptive consent model, whereby consumers agree to the sharing of certain information with their relatives ahead of testing and as a condition of testing. When a relative is informed, the proband's privacy is protected by maximal deidentification, and the rights of the relative are met by a stepwise approach to informing that allows them to decide how much information they receive.

What people really change after genetic testing (GT) performed in private labs: results from an Italian study.

Despite the widespread diffusion of direct-to-consumer genetic testing (GT), it is still unclear whether people who learn about their genetic susceptibility to a clinical condition change their behaviors, and the psychological factors involved. The aim of the present study is to investigate long-term changes in health-related choices, individual tendencies and risk attitudes in an Italian sample of GT users. In the context of the Mind the Risk study, which investigated a sample of Italian adults who underwent GT in a private laboratory, 99 clients participated in the follow up assessment. They completed a self-administered questionnaire investigating: (a) clinical history and motivation for testing, (b) lifestyle and risk behaviors, (c) individual tendencies toward health, and (d) risk-taking attitude and risk tolerance. Such variables were measured at three different time-points: T0-before GT, T1-at 6 months after genetic results, and T2-at 1 year from results. Results showed that, at baseline, participants who stated they intended to modify their behavior after GT results, effectively did so over time. This result held both for participants who received a positive or negative test result. In general, a healthier diet was the most frequently observed long-term behavioral change. As regards psychological variables, a risk-taking attitude and risk tolerance did not seem to affect the decision to change the lifestyle. Finally, we found an overall reduction in anxiety and worry over health over time, but also a reduction in the motivation for health promotion and prevention, health esteem, and positive expectations for their health in the future.