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

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.

The apolipoprotein E (APOE) gene is the strongest known genetic risk factor for sporadic Alzheimer disease (AD). APOE can be used as an enrichment strategy or inclusion criterion for AD prevention trials. Personal genomics companies market direct-to-consumer (DTC) genetic tests, including APOE. We assessed DTC APOE testing usage among enrollees of the University of California Irvine Consent-to-Contact Registry, an online recruitment registry, and attitudes toward using this information in clinical trial recruitment.
We emailed links to an electronic survey to registry enrollees age 50 years or older. We assessed participants\' use of DTC services, willingness to learn APOE status, and willingness to share genetic information. Logistic regression models assessed relationships between DTC testing usage and demographic characteristics, and with willingness to share results to assist trial recruitment.
Among 1312 responders (57% response rate), few (7%) had used DTC testing for APOE. Non-Hispanic Asian enrollees were 93% less likely to have used DTC testing, compared with non-Hispanic Whites [95% confidence interval: (0.01, 0.67)]. Willingness to share APOE information for study recruitment was >90% for both users and nonusers.
Matching participants to trials on the basis of DTC APOE information may be an effective way to streamline AD prevention trial recruitment.

Genetic ancestry testing is a billion-dollar industry, with more than 26 million tests sold by 2018, which raises concerns over how it might influence test-takers\' understandings of race. While social scientists argue that genetic ancestry tests may promote an essentialist view of race as fixed and determining innate abilities, others suggest it could reduce essentialist views by reinforcing a view of race as socially constructed. Essentialist views are a concern because of their association with racism, particularly in its most extreme forms. Here we report the first randomized controlled trial of genetic ancestry testing conducted to examine potential causal relationships between taking the tests and essentialist views of race. Native-born White Americans were randomly assigned to receive Admixture and mtDNA tests or no tests. While we find no significant average effect of genetic ancestry testing on essentialism, secondary analyses reveal that the impact of these tests on racial essentialism varies by type of genetic knowledge. Within the treatment arm, essentialist beliefs significantly declined after testing among individuals with high genetic knowledge, but increased among those with the least genetic knowledge. Additional secondary analysis show that essentialist beliefs do not change based on the specific ancestries reported in test-takers\' results. These results indicate that individuals\' interpretations of genetic ancestry testing results, and the links between genes and race, may depend on their understanding of genetics.

In an effort to meet ethical obligations and/or participant expectations, researchers may consider offering \"raw\" or uninterpreted genetic data for result return. It is therefore important to understand the motivations, behaviors, and perspectives of individuals who might choose to access raw data before such return becomes routine. In the direct-to-consumer (DTC) context, where raw data are often made available to customers, the use of third-party interpretation tools has raised concerns about genotype accuracy, data privacy, reliability of interpretation, and consumption of limited health care resources. However, relatively little is known about why individuals access raw data or what they do with the information received from third-party interpretation. Accordingly, we conducted a survey on raw data access and third-party tool usage among 1,137 DTC customers recruited through social media. Most survey respondents (89%) reported downloading their raw data. Among downloaders, 94% used at least one tool, most commonly Promethease (63%) or GEDmatch (84%). More than half (56%) used both health-related and non-health-related tools and differed significantly from those who used only one tool type in terms of demographics, participation in research, DTC tests ordered, and testing motivations. Exploratory interviews were conducted with 10 respondents and illustrated how social networking, initial lack of interesting findings, and general curiosity contributed to use of multiple tool types. These results suggest that even when initially motivated by ancestry and genealogy, consumers frequently also pursue health information in a largely unregulated and expanding suite of third-party tools, raising both challenges and opportunities for the professional genetics community.

The dental clinic is an appropriate place to promote the prevention of hepatitis C virus (HCV) infection and fast access for care of HCV-positive subjects with new-generation anti-HCV drugs. This study aimed to determine the socio-demographic profile of subjects screened for HCV virus in a dental clinic to acquire useful information for future campaigns of prevention. An easy, free-of-charge, screen salivary test was offered to patients referred to the dental clinic of San Raffaele Scientific Research Hospital in Milan, Italy for dental procedures. These patients were also asked to complete an anonymous questionnaire on demographics and risk behaviours. A total of 1388 of 2097 (66.19%) questionnaires were evaluable. The demographics of the population responding to this initiative was primarily Italians citizen (96.47%), homogeneous gender distribution (55.55%), age over 50 (609 subjects; 43.88%), with high-level education and stable professional positions. 905 subjects (65.20%) were never tested for HCV before. The test showed positive reactivity in 22 cases (1.05%); of these, 21 subjects were known to be HCV-positive, and the test confirmed their status. One subject was newly diagnosed as HCV-positive. The percentage of subjects who were never tested for HCV infection appears too high (905 subjects, i.e., 65.20%), especially among subjects with high level of education and professions, and among adults over 40 or young people (18-25). The easy screening test in dental clinic can help raise awareness, promote early diagnosis and prevention, and provide a fast link to care for HCV infection.

Personal genomic testing using direct-to-consumer and consumer-directed models, with or without involvement of healthcare providers, is increasing internationally, including in Australia. This study forms a sub-set of the Genioz study - Genomics: National Insights of Australians. We aimed to explore Australians\' experiences with these types of tests, especially online DNA tests, and their views regarding whom they would seek support from around understanding test results. The study used a mixed methods approach, employing an exploratory quantitative online survey and follow-up qualitative semi-structured interviews. Between May 2016 and May 2017, 2841 Australians responded to the survey. Interviews were conducted with 63 purposively sampled respondents, including 45 who had a genetic test and 18 who had not. Of 571 respondents who had any type of genetic test, 322 had a personal genomic test using criteria defined by the researchers. Testing for ancestry/genealogy was the most common, reported by 267 participants, reflecting the increased advertising of these tests in Australia. Some respondents described downloading their raw data for further interpretation through third party websites for genealogical as well as health related information. Carrier testing, testing for serious and preventable conditions and nutrition and/or wellness were the most common health related tests reported by respondents. Participants generally preferred to seek support from general practitioners (GPs), medical specialists with relevant expertise and independent genetics specialists, although another important preference for non-health information was online forums and networks. There was less preference for seeking support from employees associated with the testing companies. Generally, of those who had a health related PGT, the most common actions were seeking medical advice or doing nothing with the information, while more of those who had a personal genomic test for nutrition and/or wellness sought advice from complementary/alternative health practitioners (eg naturopaths) and integrative GPs, and 60% reported they had changed their diet. As awareness of personal genomic testing increases, publicly funded clinical genetics services may be less inclined to discuss results from personal genomic testing. Genetic counsellors could play an important role in providing this support, both pre-test and post-test, through opportunities for private practice but independent from testing companies.

With interest in personalised health care growing, so is interest in personal genetic testing. This is now offered direct-to-consumer, thereby referred to as direct-to-consumer genetic testing (DTC-GT). Criticisms have been expressed on whether a truly informed decision to undergo testing is made with regard to these services. In order to provide relevant information to achieve this, knowing the characteristics of the expected user population is helpful. Therefore, the aim of this study is to identify characteristics of individuals who (1) find the concept of DTC-GT acceptable and (2) consider undergoing DTC-GT in the distant or near future.
This cross-sectional study investigated factors associated with acceptability, consideration and intention in the Dutch general population. Studied variables included awareness, principles and how-to knowledge, attitude, innovativeness, and multiple demographic characteristics. Generalised linear models were applied to identify associated variables.
Full data was obtained for 836 respondents. Of those, 18.3% found DTC-GT somewhat or totally acceptable, whereas 12.6% considered and 5.5% intended to undergo DTC-GT in the distant or near future. Acceptability was greater with lower principles knowledge, and consideration and intention with lower how-to knowledge. A more positive attitude and greater innovativeness were associated with an increase in all 3 outcomes.
Informed decision making may be hampered as individuals with lower how-to knowledge were found to be more interested in pursuing testing. The identified characteristics can be used in development and distribution of public and personalized information, in order to help consumers make a truly informed decision.

Refugees in sub-Saharan Africa face both the risk of HIV infection and barriers to HIV testing. We conducted a pilot study to determine the feasibility and acceptability of home-based HIV testing in Nakivale Refugee Settlement in Uganda and to compare home-based and clinic-based testing participants in Nakivale.
From February-March 2014, we visited homes in 3 villages in Nakivale up to 3 times and offered HIV testing. We enrolled adults who spoke English, Kiswahili, Kinyarwanda, or Runyankore; some were refugees and some Ugandan nationals. We surveyed them about their socio-demographic characteristics. We evaluated the proportion of individuals encountered (feasibility) and assessed participation in HIV testing among those encountered (acceptability). We compared characteristics of home-based and clinic-based testers (from a prior study in Nakivale) using Wilcoxon rank sum and Pearson\'s chi-square tests. We examined the relationship between a limited number of factors (time of visit, sex, and number of individuals at home) on willingness to test, using logistic regression models with the generalized estimating equations approach to account for clustering.
Of 566 adults living in 319 homes, we encountered 507 (feasibility = 90%): 353 (62%) were present at visit one, 127 (22%) additional people at visit two, and 27 (5%) additional people at visit three. Home-based HIV testing participants totaled 378 (acceptability = 75%). Compared to clinic-based testers, home-based testers were older (median age 30 [IQR 24-40] vs 28 [IQR 22-37], p < 0.001), more likely refugee than Ugandan national (93% vs 79%, < 0.001), and more likely to live ≥1 h from clinic (74% vs 52%, < 0.001). The HIV prevalence was lower, but not significantly, in home-based compared to clinic-based testing participants (1.9 vs 3.4% respectively, p = 0.27). Testing was not associated with time of visit (p = 0.50) or sex (p = 0.66), but for each additional person at home, the odds of accepting HIV testing increased by over 50% (OR 1.52, 95%CI 1.12-2.06, p = 0.007).
Home-based HIV testing in Nakivale Refugee Settlement was feasible, with 90% of eligible individuals encountered within 3 visits, and acceptable with 75% willing to test for HIV, with a yield of nearly 2% individuals tested identified as HIV-positive.

Timely diagnosis of human immunodeficiency virus (HIV) enables access to antiretroviral treatment, which reduces mortality, morbidity and further transmission in people living with HIV. In the UK, late diagnosis among black African people persists. Novel methods to enhance HIV testing in this population are needed.
To develop a self-sampling kit (SSK) intervention to increase HIV testing among black Africans, using existing community and health-care settings (stage 1) and to assess the feasibility for a Phase III evaluation (stage 2).
A two-stage, mixed-methods design. Stage 1 involved a systematic literature review, focus groups and interviews with key stakeholders and black Africans. Data obtained provided the theoretical base for intervention development and operationalisation. Stage 2 was a prospective, non-randomised study of a provider-initiated, HIV SSK distribution intervention targeted at black Africans. The intervention was assessed for cost-effectiveness. A process evaluation explored feasibility, acceptability and fidelity.
Twelve general practices and three community settings in London.
HIV SSK return rate.
Stage 1 - the systematic review revealed support for HIV SSKs, but with scant evidence on their use and clinical effectiveness among black Africans. Although the qualitative findings supported SSK distribution in settings already used by black Africans, concerns were raised about the complexity of the SSK and the acceptability of targeting. These findings were used to develop a theoretically informed intervention. Stage 2 - of the 349 eligible people approached, 125 (35.8%) agreed to participate. Data from 119 were included in the analysis; 54.5% (65/119) of those who took a kit returned a sample; 83.1% of tests returned were HIV negative; and 16.9% were not processed, because of insufficient samples. Process evaluation showed the time pressures of the research process to be a significant barrier to feasibility. Other major barriers were difficulties with the SSK itself and ethnic targeting in general practice settings. The convenience and privacy associated with the SSK were described as beneficial aspects, and those who used the kit mostly found the intervention to be acceptable. Research governance delays prevented implementation in Glasgow.
Owing to the study failing to recruit adequate numbers (the intended sample was 1200 participants), we were unable to evaluate the clinical effectiveness of SSKs in increasing HIV testing in black African people. No samples were reactive, so we were unable to assess pathways to confirmatory testing and linkage to care.
Our findings indicate that, although aspects of the intervention were acceptable, ethnic targeting and the SSK itself were problematic, and scale-up of the intervention to a Phase III trial was not feasible. The preliminary economic model suggests that, for the acceptance rate and test return seen in the trial, the SSK is potentially a cost-effective way to identify new infections of HIV.
Sexual and public health services are increasingly utilising self-sampling technologies. However, alternative, user-friendly SSKs that meet user and provider preferences and UK regulatory requirements are needed, and additional research is required to understand clinical effectiveness and cost-effectiveness for black African communities.
This study is registered as PROSPERO CRD42014010698 and Integrated Research Application System project identification 184223.
The National Institute for Health Research Health Technology Assessment programme and the BHA for Equality in Health and Social Care.