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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.

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Adoptees' use of direct-to-consumer genetic testing (DTC-GT) is known to raise both ethical and emotional issues, and it can also challenge their identity. The objective of the present study was to describe the experiences of DTC-GT use among adoptees living in Quebec and to better understand the benefits and disadvantages of use. We adopted a mixed method approach whereby a questionnaire comprising standardized scales was administered to 143 adoptees who had used genetic testing and 40 adoptees who had not. Semi-structured interviews were performed with five respondents from the DTC-GT use group. The quantitative and qualitative data were analyzed and integrated together using the Pillar Integration Process. The results highlighted familial reunion as the primary motivation for the use of DTC-GT among responding adoptees. Reported challenges included needing help with results interpretation, as well as the need for autonomy in the ownership of the results. Participants describe not being particularly concerned by potential ethical issues, describing the benefits of the tests as more important than possible disadvantages. Overall, participants had a good experience of using DTC-GT, and users were less anxious. Various factors associated with the use and experience of use were highlighted (age, psychological distress, community membership, etc.). The results from this study provide much-needed information about adoptees' needs regarding DTC-GT, highlight key risk factors, and introduces best practice recommendations so that adoptees are properly informed and supported when pursuing DTC-GT.

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In this article, using theories of procedural justice and 'slow violence', we consider potential reform of the Human Fertilisation and Embryology Act 1990. Our theoretical discussion is underpinned by findings from the ConnecteDNA project, exploring how people affected by donor conception experience direct-to-consumer genetic testing (DTCGT). The negative impacts of DTCGT, especially shock discoveries about the circumstances of someone's conception in adulthood, are linked to donor anonymity, and how its continued protection is experienced as a barrier to the rights and agency of donor-conceived people. We focus on two key issues relating to the donor information access process set out in section 31ZA of the 1990 Act. The first is that it excludes certain cohorts of donor-conceived people, creating inequalities of access to donor information. The second is the impact of the use of DTCGT to search for that information. We discuss what a procedurally just process of law reform would look like, concluding that, whatever (prospective) approach to donor anonymity is taken, the donor information access process should be the same for all donor-conceived people. We thus argue that, even were the status quo to be maintained, reform of the donor information access process with retrospective effect would be required.

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Although the popularity of direct-to-consumer genetic tests (DTC-GT) for disease-related purposes increased, concerns persist whether consumers make well-informed decisions about their purchase. To better target pre- and post-test information materials, this study aims to determine the characteristics of people interested in undergoing DTC-GT. In addition, it aims to determine changes in acceptability, consideration, intention, and uptake of DTC-GT since 2017. An online cross-sectional survey was conducted in April 2022 with a representative sample of the Dutch adult population. Ordinal regression models and chi-squared tests were used to determine factors associated with DTC-GT acceptability, consideration and intention, and changes in outcomes since 2017, respectively. Of the 907 included respondents, 19.3% found DTC-GT acceptable, 29.4% considered taking a DTC-GT in the future, 6.2% intended to take a test within the coming year, and 0.9% had already tested. High education was associated with lower acceptability, consideration, intention, and higher awareness. Respondents with a chronic disease were less likely to find DTC-GT acceptable. Higher consideration was associated with having a partner, adopted/stepchildren, and lower age. Compared to 2017, in 2022 more respondents found DTC-GT totally unacceptable, while more considered testing, and fewer ruled out taking a test both in the next year and the future. Education status may play an important role in people's acceptability, consideration, intention, and awareness of disease-related DTC-GT in the Netherlands. Easy-to-understand public information materials should be promoted and guidance is needed to help with decision-making and result interpretation. Future research should focus on the best way to provide responsible guidance.

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The role of genetic counselors is evolving in response to health-related direct-to-consumer genetic tests (DTC-GT). While there is consensus in the literature that pre- and post-DTC-GT genetic counseling would benefit consumers, genetic counselors have reservations about DTC-GTs, and there is a paucity of research on providing DTC-GT counseling. This pilot quantitative survey is the first study to examine Canadian genetic counselors' views on DTC-GTs and how this disruptive biotechnology affects their role, and consumer informed consent and privacy. Canadian genetic counselors are cognizant of the harm to informed consent and privacy associated with DTC-GT, but are hesitant to engage directly, wary of misusing clinical time and resources. However, counselors are open to producing educational materials on DTC-GTs and collaborating with other stakeholders and the DTC-GT industry to support consumers. In this study, practical considerations for DTC-GT counseling sessions are discussed, including the unique needs of DTC-GT patients and the challenges posed by DTC-GTs to the genetic counseling duty to inform. This research benefits genetic counselors and physicians by examining how best to utilize genetic counselors' skills in the DTC-GT context, to minimize burdens on the healthcare system and support DTC-GT consumers.

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RESEARCH QUESTION: What effect does direct-to-consumer genetic testing (DTCGT) have on information finding and sharing in relation to gamete donor conception? DESIGN: This study used in-depth qualitative interviews with parents through donor conception, donors, the relatives of donors and donor-conceived people who have used, or considered using, DTCGT. Interviews were conducted between September 2021 and February 2023. Sixty people defined themselves as having been affected by donor conception and DTCGT. Fifty-seven of these were resident in the UK at the time of interview. The final sample included 19 (spermatozoa, egg or embryo) donors, 25 donor-conceived people, 20 parents through donor conception and two relatives of donors. Five participants occupied more than one of these roles. RESULTS: The rise of DTCGT is affecting how information about donor conception is managed: it shifts patterns of knowledge about donor conception; increases flexibility regarding the age of access to information about donor relatives; can lead to a growing role for non-professionals, including wider family members, in gatekeeping information about donor conception; accentuates the effect of donor conception for donors' and the relatives of donor-conceived people; and shapes, and is shaped, by the formal regulatory donor information management systems. CONCLUSION: Fertility professionals should inform people using, or considering, donor conception, or (potential) donors, about the different ways DTCGT can affect sharing information about donor conception. Support is needed for those affected by these changes.

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With the growing challenge of abandoned surplus embryos in the ART arena, and the limited traction of embryo donation as a viable embryo disposition choice, it is important to better understand barriers to wider adoption of this opportunity. We aim to learn about perspectives and experience of participants in directed and non-identified embryo donation programmes. This was a longitudinal cohort survey study, of all participants in an embryo donation programme in a single university affiliated clinic between 2016 and 2020. Clinical data were extracted from counselling reports. Based on these data, non-identified online questionnaires were constructed and refined via Delphi procedure for face and content validity. Sixty-five online questionnaires were emailed between March-April 2021. Descriptive statistics, cross-tabulation, Fisher's exact test and t-test were used for analyses. Source of patient awareness, factors influencing the decision-making process, patient perspective and satisfaction were explored. The response rate was 67.2%. Most participants in the non-identified programme learned of it through their treating physicians, whereas most participants in the directed programme learned of it online. The main driver to donate across both cohorts was wanting to give others the opportunity to experience the joy of parenthood. Overall, 45% described moderate to marked difficulty in decision making related to donating their embryos, and this did not differ between cohorts. Non-identified donors reported feeling highly attached to the donated embryos more often than directed donors. Level of satisfaction was higher in the directed donation programme. Participants were more satisfied following directed than non-identified donation, and some even consider their counterparts as extended family. Our findings should be validated in various settings, and on larger samples.

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The availability of direct-to-consumer genetic testing (DTCGT) for age-related macular degeneration (AMD) provides the public with access to disease risk estimations that may be used to guide lifestyle adjustments. However, AMD development risk is more complex than can be captured by gene mutations alone. The methodologies employed by current DTCGTs to estimate AMD risk vary and are limited in several ways. Genotyping-based DTCGT is biased toward European ancestry and only considers a limited number of genes. Whole genome sequencing based DTCGTs uncovers several genetic variations with unknown relevance, making risk interpretation challenging. In this perspective, we describe the limitations of the DTCGT for AMD.

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Neither direct-to-consumer (DTC) genetic testing nor predictive genetic testing for adult-onset conditions is recommended for minor children due to ethical concerns and low clinical utility. However, parents with pathogenic variants (PVs) in disease-causing genes may be interested in pursuing genetic testing that includes the familial PV for their children. The Pediatric Testing Attitudes Scale (P-TAS) was previously developed to examine high-risk parents' opinions about pediatric BRCA genetic testing for adult-onset breast/ovarian cancer. Here, the psychometric properties of the P-TAS were examined in a new sample of N = 126 parents (M age = 47.2 years) with PVs in a more complete set of cancer risk genes represented on DTC panel tests. The mean score on the P-TAS was 44 out of a maximum score of 60, indicating that a majority of parents generally held favorable opinions about testing their children for adult-onset inherited cancer syndromes. The internal consistency of the full scale was high (α = 0.91). A factor analysis identified two-component scales, labeled Attitudes and Beliefs (α = 0.93) and Decision Making and Communication (α = 0.83). In a multivariable regression model, P-TAS co-factors accounted for 34% of variance in parental opinions, including the frequency of prior family communication about cancer and the likelihood of utilizing DTC genetic testing with children (R2  = 0.34, p < 0.001). Results suggest that the P-TAS remains a reliable measure to assess high-risk parents' opinions about pediatric DTC genetic testing for adult-onset conditions, with promising validity. Applications of the P-TAS include informing genetic counseling practice, pediatric medical care, and policy guidelines surrounding DTC genetic testing.

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Advances in technology, decreasing cost of genetic testing, and growing public interest in genetics marked by an increased uptake of genetic testing, particularly direct-to-consumer genetic testing (DTC-GT), have led to an overwhelming demand for genetic counseling services. As such, various alternative service delivery models have been proposed to increase access to genetic counseling. Some service delivery models, such as asynchronous messaging, remain unexplored in the genetic counseling literature. The purpose of this study was to assess communication during genetic counseling for DTC-GT through asynchronous messaging. A thematic analysis was conducted on 34 de-identified chat transcripts between genetic counselors and clients who underwent DTC-GT. Six categories of communication were identified and were grouped based on communication sources from either the client or the genetic counselor. Categories observed in client communication were motivations for seeking DTC testing and/or genetic counseling services, questions posed to the genetic counselor, responses provided during the session, and psychosocial aspects of the session related to the clients' mental, emotional, social, and spiritual needs. Categories of communication that emerged from the genetic counselors' communications were educational aspects of the session and counseling strategies to address concerns that are not related to educational or informational needs. Most clients had specific questions about variants detected or specific conditions. Many clients asked about appropriate subsequent steps related to additional testing or medical management. Genetic counselors discussed the limitations of DTC-GT and recommendations for clinical grade testing in almost all chat transcripts. In several chats, the genetic counselor provided advice to the client related to minimizing time sorting through likely benign results and refraining from altering medical management. Results suggest that genetic counselors are able to provide genetic information to clients and respond to their mental and emotional needs through asynchronous chat following DTC-GT. Findings from this study provide initial insight into a unique genetic counseling delivery model and reveal the informational and counseling needs of clients following DTC-GT.

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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.

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Genetic counseling for patients who are pursuing genetic testing in the absence of a medical indication, referred to as elective genomic testing (EGT), is becoming more common. This type of testing has the potential to detect genetic conditions before there is a significant health impact permitting earlier management and/or treatment. Pre- and post-test counseling for EGT is similar to indication-based genetic testing. Both require a complete family and medical history when ordering a test or interpreting a result. However, EGT counseling has some special considerations including greater uncertainties around penetrance and clinical utility and a lack of published guidelines. While certain considerations in the selection of a high-quality genetic testing laboratory are universal, there are some considerations that are unique to the selection of a laboratory performing EGT. This practice resource intends to provide guidance for genetic counselors and other healthcare providers caring for adults seeking pre- or post-test counseling for EGT. Genetic counselors and other genetics trained healthcare providers are the ideal medical professionals to supply accurate information to individuals seeking counseling about EGT enabling them to make informed decisions about testing and follow-up.

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Genetic counselling (GC) provides information to the patient and the family to make informed choices. Among the advanced Western countries and a few Asian countries, there are certified or trained professionals who perform GC. The Human Genome Project and next-generation sequencing diagnostics have provided an opportunity for increased genetic testing in the field of ophthalmology. The recent interventional therapeutic research strategies have also generated additional interest to seek GC globally, including in Asia. However, GC has several barriers to practise in the developing countries in Asia, namely, (a) shortage of qualified or trained genetic counsellors, (b) poor knowledge and reluctance in clinical adoption of genomics among the physicians in clinical practice, (c) overstretched public health services, and (d) negligible ophthalmic GC-related research and publications. The GC inadequacy in Asia is glaring in the most populous countries like China and India. Cultural differences, religious beliefs, misogyny, genetic discrimination, and a multitude of languages in Asia create unique challenges that counsellors in the West may only encounter with the immigrant minorities. Since there are currently 500 or more specific Mendelian genetic eye disorders, it is important for genetic counsellors to translate the genetic results at a level that the patient and family understand. There is therefore a need for governmental and healthcare organisations to train genetic counsellors in Asia and especially this practice must be included in the routine comprehensive ophthalmic care practice.

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Direct-to-consumer genetic testing (DTC GT) diagnostic tools do not entail referral through a healthcare provider and are used by consumers to screen for genetic health risk, pharmacogenomics, and predisposition to certain diseases and to learn more about ancestry. The purpose of this study was to describe the content of DTC DNA online news articles - specifically to characterize how rising concerns related to consumer privacy, medical advancements, and bioethics are covered in online news as access to these testing kits continues to grow. One hundred news articles identified on Google News using the search term "direct to consumer DNA testing" were coded for pre-determined content categories. Only 34.0% of news articles were created by healthcare professionals. Only 10.0% of online news articles mentioned testing confidentiality and privacy protection. Articles that mentioned > 5 commercial DTC DNA products more often discussed how DTC DNA testing provides personalized information about health and link to family disease risk and other traits (85.7% vs. 61.1%, p = 0.02), can lead to the location of family members or ancestors (78.6% vs. 55.63%, p = 0.03), and that the testing results housed in DNA databases can be utilized by law enforcement to track suspects or their relatives (32.1% vs. 9.7%, p = 0.01). Articles that mentioned ≤ 5 commercial DTC DNA products failed to mention that there exists a potential for data breaches (75.0% vs. 53.6%, p = 0.04). Online news articles should adequately inform consumers regarding the benefits and risks of DTC GT tests to facilitate informed decision-making.

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INTRODUCTION: The rapidly expanding direct-to-consumer genetic testing (DTC GT) market is one area where narratives of underrepresented populations have not been explored extensively. This study describes African-American consumers' personal experiences with and perceptions about DTC GT and explores similarities and differences between African-Americans and an earlier cohort of mostly European American consumers. METHODS: Twenty semi-structured, qualitative interviews were held with individuals who self-identified as Black/African-American and completed DTC GT between February 2017 and February 2020. Interviews were transcribed and consensus-coded, using inductive content analysis. RESULTS: Participants generally had positive regard for DTC GT. When considering secondary uses of their results or samples, most participants were aware this was a possibility but had little concrete knowledge about company practices. When prompted about potential uses, participants were generally comfortable with research uses but had mixed outlooks on other nonresearch uses such as law enforcement, cloning, and product development. Most participants expressed that consent should be required for any secondary use, with the option to opt out. The most common suggestion for companies was to improve transparency. Compared to European American participants, African-American participants expressed more trust in DTC GT companies compared to healthcare providers, more concerns about law enforcement uses of data, and a stronger expression of community considerations. DISCUSSION/CONCLUSION: This study found that African-American consumers of DTC GT had a positive outlook about genetic testing and were open to research and some nonresearch uses, provided that they were able to give informed consent. Participants in this study had little knowledge of company practices regarding secondary uses. Compared to an earlier cohort of European American participants, African-American participants expressed more concerns about medical and law enforcement communities' use of data and more reference to community engagement.

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Although consumers and experts often express concerns regarding the questionable business practices of direct-to-consumer (DTC) genetic testing services (e.g., reselling of consumers' genetic data), the DTC genetic testing market keeps expanding rapidly. We employ retail fairness as our theoretical lens to address this seeming paradox and conduct a discrete choice experiment with 16 attributes to better understand consumers' fairness perceptions of DTC genetic testing business models. Our results suggest that, while consumers perceive privacy-preserving DTC genetic testing services fairer, price is the main driver for fairness perception. We contribute to research on consumer perceptions of DTC genetic testing by investigating consumer preferences of DTC genetic testing business models and respective attributes. Further, this research contributes to knowledge about disruptive business models in healthcare and retail fairness by contextualizing the concept of retail fairness in the DTC genetic testing market. We also demonstrate how to utilize discrete choice experiments to elicit perceived fairness. Supplementary Information: The online version contains supplementary material available at 10.1007/s12525-022-00571-x.

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DNA databases have significant commercial value. Direct-to-consumer genetic testing companies have built databanks using samples and information voluntarily provided by customers. As the price of genetic analysis falls, there is growing interest in building such databases by paying individuals for their DNA and personal data. This paper maps the ethical issues associated with private companies paying for DNA. We outline the benefits of building better genomic databases and describe possible concerns about crowding out, undue inducement, exploitation, and commodification. While certain objections deserve more empirical and philosophical investigation, we argue that none currently provide decisive reasons against using financial incentives to secure DNA samples.

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STUDY QUESTION: What information and support should be offered to donors, intended parents and donor-conceived people, in general and in consideration of the availability of direct-to-consumer genetic testing and matching services? SUMMARY ANSWER: For donors, intended parents and donor-conceived offspring, recommendations are made that cover information needs and informed consent, psychosocial implications and disclosure. WHAT IS KNOWN ALREADY: Trends indicate that the use of donor-assisted conception is growing and guidance is needed to help these recipients/intended parents, the donors and offspring, navigate the rapidly changing environment in which donor-assisted conception takes place. STUDY DESIGN SIZE DURATION: A working group (WG) collaborated on writing recommendations based, where available, on evidence collected from a literature search and expert opinion. Draft recommendations were published for stakeholder review and adapted where relevant based on the comments received. PARTICIPANTS/MATERIALS SETTING METHODS: Papers retrieved from PUBMED were included from 1 January 2014 up to 31 August 2020, focusing on studies published since direct-to-consumer genetic testing has become more widespread and accessible. The current paper is limited to reproductive donation performed in medically assisted reproduction (MAR) centres (and gamete banks): donation outside the medical context was not considered. MAIN RESULTS AND THE ROLE OF CHANCE: In total, 32 recommendations were made for information provision and support to donors, 32 for intended parents and 27 for donor-conceived offspring requesting information/support. LIMITATIONS REASONS FOR CAUTION: The available evidence in the area of reproductive donation is limited and diverse with regards to the context and types of donation. General conclusions and recommendations are largely based on expert opinion and may need to be adapted in light of future research. WIDER IMPLICATIONS OF THE FINDINGS: These recommendations provide guidance to MAR centres and gamete banks on good practice in information provision and support but should also be considered by regulatory bodies and policymakers at a national and international level to guide regulatory and legislative efforts towards the protection of donors and donor-conceived offspring. STUDY FUNDING/COMPETING INTERESTS: The development of this good practice paper was funded by European Society of Human Reproduction and Embryology (ESHRE), covering expenses associated with the WG meetings, the literature searches and dissemination. The WG members did not receive any payment. The authors have no conflicts of interest to declare. DISCLAIMER: This document represents the views of ESHRE, which are the result of consensus between the relevant ESHRE stakeholders and where relevant based on the scientific evidence available at the time of preparation. The recommendations should be used for informational and educational purposes. They should not be interpreted as setting a standard of care, or be deemed inclusive of all proper methods of care nor exclusive of other methods of care reasonably directed to obtaining the same results. They do not replace the need for application of clinical judgement to each individual presentation, nor variations based on locality and facility type. †ESHRE pages content is not externally peer reviewed. The manuscript has been approved by the Executive Committee of ESHRE.

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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.

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