Genetics healthcare providers' experiences counseling patients with results from consumer genomic testing.

BACKGROUND: Consumer genomic testing (CGT), including direct-to-consumer and consumer-initiated testing, is increasingly widespread yet has limited regulatory oversight. To assess the current state, we surveyed genetics healthcare providers' experiences with CGT. METHODS: A retrospective survey about experiences counseling on CGT results was completed by 139 respondents recruited from the National Society of Genetic Counselors, Clinical Cancer Genomics Community of Practice, and genetics professional societies. RESULTS: Among respondents, 41% disagreed with the statement that potential benefits of CGT outweigh harms, 21% agreed, and 38% were undecided. A total of 94% encountered ≥1 challenge counseling CGT patients, including adverse psychosocial events (76%), incorrect variant interpretation (68%), and unconfirmed results (69%); unconfirmed results were more common among oncology providers (p = 0.03). Providers reporting higher total challenge scores (p = 0.004) or more psychosocial or interpretation challenges (p ≤ 0.01) were more likely to indicate CGT harms outweigh benefits. Those with higher CGT clinical volume were more likely to indicate benefits outweigh harms (p = 0.003). Additional CGT challenges included patient understanding and communication of results, false negatives, incorrect testing/care, and financial costs; seven respondents (6%) documented positive outcomes. CONCLUSION: Providers counseling CGT patients encounter psychosocial and medical challenges. Collaborations between regulators, CGT laboratories, providers, and consumers may help mitigate risks.

Direct-to-consumer DNA testing: the perspectives and experiences of donor conceived young adults in the UK.

RESEARCH QUESTION: What meanings do donor conceived young adults give to direct-to-consumer DNA testing, and how does direct-to-consumer DNA testing relate to their lived experiences? DESIGN: Thirty-three young adults participated in in-depth interviews in November 2020 and September 2021 as part of a study of donor conceived people in the UK that focuses on the period of young adulthood. All participants were aged between 18 and 31 years, had been conceived by sperm donation at a time of legal donor anonymity, and were mainly resident in the UK. Interviews were analysed using reflexive thematic analysis. RESULTS: Nineteen participants (58%) had used at least one direct-to-consumer DNA test, and 14 (46%) had not. Three participants (9%) had learned about their donor conception inadvertently through a direct-to-consumer DNA test. Twelve participants (36%) had matched with their donor, someone conceived using the same donor, or both. Four related themes that capture participants' perspectives and experiences of direct-to-consumer DNA testing were identified: ruptures, disclosures, webs and temporalities. CONCLUSIONS: To the authors' knowledge, this is the first study to evidence both active interest and disinterest in direct-to-consumer DNA testing among individuals who are donor conceived. The meanings ascribed to, and uses of, direct-to-consumer DNA testing vary significantly among donor conceived young adults. Findings relating to the relationship between 'informal' and 'formal' information systems, and the absence of guidance and support for those using direct-to-consumer DNA tests, should be considered carefully by practitioners, regulatory bodies and policymakers going forward.

Why do people seek out polygenic risk scores for complex disorders, and how do they understand and react to results?

We sought to explore individuals' motivations for using their direct-to-consumer genetic testing data to generate polygenic risk scores (PRSs) using a not-for-profit third-party tool, and to assess understanding of, and reaction to their results. Using a cross-sectional design, users of Impute.me who had already accessed PRS results were invited to complete an online questionnaire asking about demographics, motivations for seeking PRSs, understanding and interpretation of PRSs, and two validated scales regarding reactions to results-the Impact of Event Scale Revised (IES-R) and the Feelings About genomiC Testing Results (FACToR). Independent samples T-tests and ANOVA were used to explore associations between the variables. 227 individuals participated in the study. The most frequently reported motivation was general curiosity (98.2%). Only 25.6% of participants correctly answered all questions assessing understanding/interpretation of PRSs. Over half of participants (60.8%) experienced a negative reaction (upset, anxious, and/or sad on FACToR scale) after receiving their PRSs and 5.3% scored over the threshold for potential post-traumatic stress disorder on the IES-R. Lower understanding about PRS was associated with experiencing a negative psychological reaction (P values <0.001). Higher quality pre-test information, particularly to improve understanding, and manage expectations for PRS may be useful in limiting negative psychological reactions.

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.

Young people's moral attitudes and motivations towards direct-to-consumer genetic testing for inherited risk of Alzheimer disease.

PURPOSE: Since the U.S. Food and Drug Administration approved sales of genetic tests for late-onset Alzheimer's disease (LOAD) risk, a heated debate has arisen over whether these tests should indeed be offered online and direct-to-consumer (DTC). As this debate progresses, it is important to understand the ethical perspectives and motivations of young people, who are a key target group for DTC services. METHODS: Thirty-one grandchildren of people with LOAD, aged 16-26, were interviewed about their moral attitudes and motivations with regards to DTC genetic testing for LOAD. RESULTS: Even though most participants claimed that people should have the right to access these services, they also expressed concerns about potential distress in response to learning about risk, particularly for minors. About a third were interested in testing, primarily to gain self-knowledge regarding one's health; however, face-to-face services were vastly preferred over the online option. CONCLUSION: While DTC genetic companies often market their services as a "fun consumer product", DTC testing for LOAD was largely understood as a serious health screening procedure and a vulnerable moment in the lives of young people in Alzheimer's families. This points to the importance of appropriate standards of information and support to young people pre- and post-testing.

Direct to consumer genetic testing in Denmark-public knowledge, use, and attitudes.

Direct to consumer genetic testing (DTC-GT) is offered by commercial companies, but the use in the general population has only been sparsely investigated. A questionnaire was sent to 2013 representative Danish citizens asking about their awareness and use of DTC-GT. Individuals who had undergone a genetic test were interviewed to determine if the results had been understood correctly. A pilot study with 2469 questionnaires was performed before this study. In total, 45.4% of the individuals (n = 913/2013) had knowledge about DTC-GT and 2.5% (n = (18 + 5)/913) previously had a genetic test by a private company and 5.8% through the public health care system (n = (48 + 5)/913). Curiosity about own genetic information was the most frequent motivation (40.9%, n = 9/22) as well as knowledge of ancestry (36.4%, n = 8/22) and advice about lifestyle, exercise, or diet (36.4%, n = 8/22). Test of own disease risk was given as a reason in 27.3% (n = 6/22) and seeking possible explanation of specific symptoms in 13.6% (n = 3/22). 50% (n = 11/22) answered that they had become concerned after the test, and 17.4% (n = 4/23) had consulted their GP. Interviews in a subset of respondents from the pilot study revealed problems with understanding the results. One problem was how to interpret the genetic test results with respect to individual risk for a disease. For example, the difference between disease causing genetic variants in monogenetic diseases versus statistical risks by SNPs in multifactorial diseases was not understood by the respondents.

Direct-to-consumer genetic testing for factor V Leiden and prothrombin 20210G>A: the consumer experience.

BACKGROUND: Clinical genetic testing for inherited predisposition to venous thromboembolism (VTE) is common among patients and their families. However, there is incomplete consensus about which individuals should receive testing, and the relative risks and benefits. METHODS: We assessed outcomes of receiving direct-to-consumer (DTC) results for the two most common genetic risk factors for VTE, factor V Leiden in the F5 gene (FVL) and prothrombin 20210G>A in the F2 gene (PT). Two thousand three hundred fifty-four customers (1244 variant-positive and 1110 variant-negative individuals) of the personal genetics company 23andMe, Inc., who had received results online for F5 and F2 variants, participated in an online survey-based study. Participants responded to questions about perception of VTE risk, discussion of results with healthcare providers (HCPs) and recommendations received, actions taken to control risk, emotional responses to receiving risk results, and perceived value of the information. RESULTS: Most participants (90% of variant-positive individuals, 99% of variant-negative individuals) had not previously been tested for F5 and/or F2 variants. The majority of variant-positive individuals correctly perceived that they were at higher than average risk for developing VTE. These individuals reported moderate rates of discussing results with HCPs (41%); receiving prevention advice from HCPs (31%), and making behavioral changes to control risk (e.g., exercising more, 30%). A minority (36%) of variant-positive individuals worried more after receiving VTE results. Nevertheless, most participants reported that knowing their risk had been an advantage (78% variant-positive and 58% variant-negative) and were satisfied knowing their genetic probability for VTE (81% variant-positive and 67% variant-negative). CONCLUSION: Consumers reported moderate rates of behavioral change and perceived personal benefit from receiving DTC genetic results for VTE risk.

Health orientation and individual tendencies of a sample of Italian genetic testing consumers.

BACKGROUND: Over the last decade, genetic testing (GT) had markedly spread in European countries and struggled the debate concerning the psychological effects on the population. The aim of this study was to investigate the individual tendencies of GT consumers in a sample of Italian citizens. METHODS: A total of 152 Italian clients from GenomaLab, a private genetic company, were enrolled from February 2016 to September 2018 and completed an ad hoc survey. RESULTS: Results showed that GT consumers were motivated to preserve their well-being, they felt responsible for their health, they were neither pessimistic nor optimistic toward negative occurrences, and poorly inclined to take high risks in their lives. Participants who had suffered from a disease in the past appear to be less tolerant to the uncertainty for future negative events. CONCLUSION: Our results depict Italian GT consumers as health-oriented, focused on prevention, who do not have a pessimistic perception of their condition but do not like to "bet" on their health, and probably their intention (and belief) is to acquire genetic information in order to reduce uncertainty and increase their decision-making "power" related to their health. Taken together, all these results contribute to describe the population of GT users in European countries, to regulate the provision of GT results and to entail the communication of genetic risk information based on a consumers' personal profile.

Failure to follow up on a medically actionable finding from direct to consumer genetic testing: A case report.

BACKGROUND: A 61-year-old woman underwent direct to consumer genetic testing and was found to be homozygous for the C282Y HFE variant (c.845G>A :p.Cys282Tyr) which is classified as pathogenic/likely pathogenic for hereditary hemochromatosis. However, no action was taken by the individual. METHODS: The individual took part in the Mayo Clinic Return of Actionable Variants Empiric (RAVE) study and the actionable finding was confirmed and results disclosed in person by a genetic counselor with subsequent referral to a hepatologist. RESULTS: Further testing revealed iron overload with an elevated ferritin level (560 ng/ml) and increased ferritin saturation (74%). Phlebotomy was initiated with subsequent normalization of the ferritin levels (252 ng/ml). CONCLUSION: This case highlights that actionable genetic results may not be acted on after direct to consumer testing and the need for effective genetic counseling after such testing.

Public reactions to direct-to-consumer genetic health tests: A comparison across the US, UK, Japan and Australia.

While direct to consumer health-related genetic testing (DTCGT) has potential to provide accessible genetic information and empower individuals to make informed healthcare decisions, it attracts concern associated with regulatory gaps, clinical utility and potential for harm. Understanding public reactions to DTCGT is vital to facilitate considered regulatory, health care and consumer protection strategies. Yet little is known, particularly outside the dominant US market, about how the general public view and might engage with DTCGT outside traditional health care systems. This paper addresses this knowledge gap with the first empirical study to investigate general public views across four countries, each at different stages of market development. US (n = 1000), UK (n = 1014), Japanese (n = 1018) and Australian (n = 1000) respondents completed an online experimental survey assessing comprehension, risk perceptions, and potential psychological and behavioural outcomes by type of test (disease pre-disposition and drug sensitivity), severity, lifestyle factors, and family history. Results showed generally low awareness and intention to purchase across countries, highest in the US and lowest in Japan. Results also showed clear preference for within-country purchases (less in Japan), with reports returned via doctors far more important in Japan. All respondents were more likely to act on test results, where there was higher genetic or lifestyle risk of developing a disease. Statistical comparisons of demographic and health-related variables across countries point to the need for further analyses designed to explain much needed cross-cultural, cross-health care system and developed versus developing market differences.

From Expectations to Experiences: Consumer Autonomy and Choice in Personal Genomic Testing.

Background: Personal genomic testing (PGT) offers individuals genetic information about relationships, wellness, sporting ability, and health. PGT is increasingly accessible online, including in emerging markets such as Australia. Little is known about what consumers expect from these tests and whether their reflections on testing resonate with bioethics concepts such as autonomy.Methods: We report findings from focus groups and semi-structured interviews that explored attitudes to and experiences of PGT. Focus group participants had little experience with PGT, while interview participants had undergone testing. Recordings were transcribed and analyzed using thematic analysis. Findings were critically interpreted with reference to bioethics scholarship on autonomy.Results: Fifty-six members of the public participated in seven focus groups, and 40 individuals were interviewed separately. Both groups valued the choice of PGT, and believed that it could motivate relevant actions. Focus group themes centered on the perceived value of choices, knowledge enabling action and knowledge about the self. Interview themes suggest that participants reflexively engage with their PGT information to make meaning, and that some appreciate its shortcomings. Critical interpretation of findings shows that while consumers of PGT are able to exercise a degree of autonomy in choosing, they may not be able to achieve a substantive conceptualization of autonomy, one that promotes alignment with higher-order desires.Conclusions: PGT consumers can critically reason about testing. However, they may uncritically accept test results, may not appreciate drawbacks of increased choice, or may overestimate the potential for information to motivate behavioral change. While consumers appear to be capable of substantive autonomy, they do so without ongoing support from companies. PGT companies promote a problematic ("default") account of autonomy, reliant on empowerment rhetoric. This leaves consumers vulnerable to making decisions inconsistent with their higher-order desires. As PGT expands, claims about its power and value need to be carefully drawn.

Personal genomic screening: How best to facilitate preparedness of future clients.

Personal genome screening (PGenS) is increasingly being offered as a screen for future health management, and to identify carrier status pertinent to reproductive decision-making. The aim of this study was therefore to explore the experience of individuals who undertook PGenS through the 2014 Sydney "Understand Your Genome (UYG)" event and a 2015 offer of PGenS by Australian biotechnology company Life Letters (LL). Eligible individuals were invited to participate by their clinical geneticist (UYG), or email from Director of LL. Semi-structured telephone interviews with 17 individuals were audio-recorded, transcribed, de-identified and analyzed by two coders using thematic analysis with an inductive approach. Nine participants had genetic/genomics expertise and eight were well-informed health and business professionals. Individual participant PGenS results included: an autosomal dominant condition not previously clinically identified (n = 1); carrier status for recessive condition(s) (n = 8); a number of disease-causing variants associated with an increased susceptibility to an inherited disorder (n = 7); variants of uncertain significance (n = 5); and a few pharmacogenomically-relevant variants (n = 4). The majority of participants described the importance of pre-test genetic counseling, information and/or consent (n = 12). Some barriers to uptake were identified, including scepticism by GPs (n = 6), colleagues (n = 3), and family members (n = 2), as well as privacy concerns (n = 4). Those without genetic/genomics expertise were mostly motivated to have testing by curiosity or interest in personal health (6/8), one seeking a diagnosis for an inherited medical condition and another for future health management. For many with genetic/genomics experience, the motivation was professional interest (8/9) and/or curiosity (5/9), without concern for personal health risk (4/9). On reflection, despite this initial motivation by the latter, the test result had unanticipated personal impact for some of this group, which changed over time (4/5). Several later recognized this, as health problems developed or family history was interrogated more closely. For all participants, disclosure of results to extended family members was limited. Most participants felt personal and family implications and communication (5/17) and/or expectations (3/17) should be addressed at the pre-test session, including more emphasis on residual risk and changes in interpretation with developing phenotypes. Those without genetics/genomics expertise highlighted the need for easy to understand pre-test information and/or an example report to be provided (7/8). These results are consistent with a need to develop more accessible resources, and more personalized counseling approaches to address expectations, dissemination of results, and preparedness for unexpected findings.

[Direct-to-consumer genetic tests in the consulting room]. / Direct-to-consumer genetische tests in de spreekkamer.

Rapid developments in genome technology and a growing interest in personalized healthcare have led to a large rise in the range and use of commercial DNA tests, the so-called direct-to-consumer genetic tests (DTC-GT). DTC-GT can be of a non-medical (e.g. for external characteristics) or medical nature; medical tests mostly indicate relative risks of disease e.g. Alzheimer's disease or certain forms of cancer. Low clinical validity and frequently unknown analytical validity of DTC-GT make it difficult to estimate the clinical usefulness of test results. From an ethical perspective, an increase in autonomy and possible health benefits must be weighed against loss of privacy, inadequate provision of information and the risk of misinterpretation of results, over-diagnosis, overtreatment and higher healthcare costs. It is unclear whether providing and implementing DTC-GT require authorisation under Dutch law in the Population Screening Act (Wet op het Bevolkingsonderzoek) or the Special Medical Procedures Act (Wet op BijzondereMedischeVerrichtingen). Clinical utility of DTC-GT can only increase if there is greater clarity on interpretation and scope of the law and regulations, when DTC-GT companies provide better information and guidance for consumers and when there is more focus on DTC-GT in education and training programmes for healthcare professionals.

Australians' perspectives on support around use of personal genomic testing: Findings from the Genioz study.

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.

"I would rather have it done by a doctor"-laypeople's perceptions of direct-to-consumer genetic testing (DTC GT) and its ethical implications.

Direct-to-consumer genetic testing (DTC GT) has been available for several years now, with varying degrees of regulation across different countries. Despite a restrictive legal framework it is possible for consumers to order genetic tests from companies located in other countries. However, German laypeople's awareness and perceptions of DTC GT services is still unexplored. We conducted seven focus groups (participants n = 43) with German laypeople to explore their perceptions of and attitudes towards commercial genetic testing and its ethical implications. Participants were critical towards DTC GT. Criticism was directed at health-related, predictive testing, while lifestyle tests were accepted and even welcomed to some extent. Participants expressed strong reservations regarding commercial provision of genetic diagnostics and expressed a lack of trust in respective companies. They preferred non-commercial distribution within the public healthcare system. Participants also expressed high expectations of physicians' abilities to interpret information obtained via DTC GT companies and provide counseling. Legal restrictions on commercial distribution of genetic tests were opposed, with participants arguing that it should be available to consumers. DTC GT companies are not perceived as trustworthy when compared to the public healthcare system and its professional ethical standards and practices. Laypeople rated general consumer autonomy higher than their own concerns, thus recommending against strong legal regulation. We conclude that medicine's trustworthiness may be negatively affected if commercial provision is not visibly opposed by the medical professions, while DTC GT companies may gain in trustworthiness if they adapt to standards and practices upheld in medicine.

Factors Associated with Acceptability, Consideration and Intention of Uptake of Direct-To-Consumer Genetic Testing: A Survey Study.

BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.

Australians' views on personal genomic testing: focus group findings from the Genioz study.

Personal genomic testing provides healthy individuals with access to information about their genetic makeup for purposes including ancestry, paternity, sporting ability and health. Such tests are available commercially and globally, with accessibility expected to continue to grow, including in Australia; yet little is known of the views/expectations of Australians. Focus groups were conducted within a multi-stage, cross-disciplinary project (Genioz) to explore this. In mid-2015, 56 members of the public participated in seven focus groups, allocated into three age groups: 18-24, 25-49, and ≥50 years. Three researchers coded transcripts independently and generated themes. Awareness of personal genomic testing was low, but most could deduce what "personal genomics" might entail. Very few had heard of the term "direct-to-consumer" testing, which has implications for organisations developing information to support individuals in their decision-making. Participants' understanding of genetics was varied and drawn from several sources. There were diverse perceptions of the relative influence of genetics and environment on health, mental health, behavior, talent, or personality. Views about having a personal genomic test were mixed, with greater interest in health-related tests if they believed there was a reason for doing so. However, many expressed scepticisms about the types of tests available, and how the information might be used; concerns were also raised about privacy and the potential for discrimination. These exploratory findings inform subsequent stages of the Genioz study, thereby contributing to strategies of supporting Australians to understand and make meaningful and well-considered decisions about the benefits, harms, and implications of personal genomic tests.