1.1 Advent of a new technology: direct-to-consumer genetic testing

Child adoption was once extremely common in the Canadian province of Quebec. Between the 1930s and the 1970s, domestic adoptions were most common (Couvy, 2017), and international adoptions became more prevalent in the 1990s and 2000s (SAI, 2023). Between 1990 and 1999, 7899 children were adopted internationally by families in Québec (SAI, 2000). Once these adoptees reach adulthood, many start searching for their medical history and/or biological origins (Kohler et al., 2002), and this search has become far easier with the emergence of direct-to-consumer genetic testing (DTC-GT). For around $100 USD, companies such as Ancestry, MyHeritage, and 23andMe will send their customers home genetic testing kits. These DTC-GT typically involve taking a saliva sample and sending it back to the company. Although this practice is banned in some countries (e.g., France), DTC-GT is accessible in Canada, where any adult can order a test and, depending on the test, receive information about their genetic disease risks and ancestral ethnic origins, and even find their birth parents (Commission d'Accès à l'Information du Québec, 2023). Since 2010, demand has exploded, and in 2018, nearly 26 million DTC-GT were performed (Regalado, 2019). By giving adoptees a new tool for learning about their family medical history and solving the mystery of their origins (Lee et al., 2021), the advent of DTC-GT has revolutionized the adoption world. The unrestricted use of genetic testing nonetheless raises both ethical and psychological issues.

There is abundant scientific literature on the ethical challenges posed by DTC-GT. These mainly revolve around consent, the way in which the risks and benefits are presented on commercial websites (Lachance et al., 2010), the lack of customer support throughout the process (Crawshaw, 2018), data protection (Laestadius et al., 2017), test reliability (Blell & Hunter, 2019), the difficulty some consumers have in interpreting the results (Anderson & Wasson, 2015), and weak laboratory regulations (Kaye, 2008). Several authors have also highlighted the emotional challenges of using these tests, as they can trigger psychological distress either during the wait for the results or once they have been received (Anderson & Wasson, 2015; Kirkpatrick & Rashkin, 2017).

1.2 Adult adoptees: a population at risk

People who have no knowledge of their family medical history or biological origins find DTC-GT particularly attractive, and therefore they feel they have more to gain from pursuing DTC-GT (Lee et al., 2016). These consumers include individuals born through gamete donation or to an anonymous parent,1 immigrants, and adoptees. The present study focused specifically on adoptees, as there is literature that describes adult adoptees as having lower psychological adjustment scores (Brown et al., 2019; Dekker et al., 2017; Westermeyer et al., 2015) than the general population, as well as increased incidences of insecure attachment (Borders et al., 2000; Feeney et al., 2007; Paperny, 2003). This contrasts with the review by Palacios and Brodzinsky (2010), which described studies that outline various protective factors that adoptees have, as well as their capacity for resilience. Further, Rush (2022) recently reported that adult adoptees' perceived social support and resilience scores are comparable with the general population despite also displaying relatively poor psychological adjustment. The variables related to poor psychological adjustment are specifically linked to the individual's adoption pathway (age at adoption, institutionalization, etc.). This quest for their biological origins is often portrayed in the literature as an important developmental milestone but may also be an emotionally risky period (Day, 2018), as adoptees may well experience contradictory emotions (stress vs. inner peace, excitement vs. disappointment, etc.). If they establish connections with their birth family, these connections are associated with an increase in self-esteem (Müller & Perry, 2001). Based on this literature, we hypothesized that adoptees' vulnerability may affect their experience of using DTC-GT, given that the results may raise very real psychological issues.

1.3 Adoptees' motivations for pursuing DTC-GT

The past few years have seen the publication of several studies exploring adoptees' use of DTC-GT. When we undertook a comprehensive review of the literature (qualitative and quantitative studies), we found that most adult adoptees are aware of these tests (Kay & Taverner, 2022; Lee et al., 2021) and are more motivated than nonadoptees to use them (Baptista et al., 2016; Edgar et al., 2022). These motivators can be divided into three categories: (1) the pursuit of medical information; (2) identity seeking; and (3) the quest for familial reunion. The first motivator, the pursuit of medical information (family history, risk factors for some diseases) has been highlighted in both quantitative and qualitative studies by various researchers. Adoptees expressed far greater interest in medical information than nonadoptees (Baptista et al., 2016), were keen to obtain information about their health history (mainly for preventive care), and in most cases, to find out what health risks they might pass on to their own children (Lee et al., 2021; Strong et al., 2017). Some adoptees also want to know if any of their current medical condition could be of genetic origin, but have no desire to identify additional genetic risks that have yet to manifest themselves. Learning that a known disorder is genetic in origin may relieve feelings of guilt for some people (Kay & Taverner, 2022).

The research around the second motivator, “identity seeking”, is typically qualitative in nature. Accessing information about their genetic origins or finding links to other users of the DTC-GT company can make some adoptees feel more in control of their history (Kay & Taverner, 2022; Strong et al., 2017) and could make it easier for them to construct their adoptive identity (May & Grotevant, 2018).

The data regarding the third motivator, the quest for familial reunion, describes adoptees as often turning to DTC-GT in the hope to find birth family members, especially when all the avenues they have pursued in the past have proved to be unproductive (Childers, 2017; Lee et al., 2021). Most DTC-GT companies offer to compare services that allow consumers to compare their DNA and provides them with close and distant genetic matches (Commission d'Accès à l'Information du Québec, 2023). By contacting the genetic matches identified by these companies, adoptees are then able to track down their closest birth relatives. The triggers for purchasing and using genetic tests were recently explored by Kay and Taverner (2022) and they found that tests were often used by adoptees during vulnerable periods of their lives, such as after a miscarriage, birth, death of a loved one. This impulsive use may therefore be a response to heightened stress or life upheaval. They also reported that the normalization of recreational DTC-GT has also encouraged its use. Lastly, these tests are sometimes recommended by genealogists when they are contacted by adoptees (Kay & Taverner, 2022).

1.4 Determinants of DTC-GT use by adoptees

Several quantitative studies have sought to identify the factors making genetic testing so attractive to adoptees. In adolescent adoptees, there does not appear to be any association between either psychological adjustment or physical health and their interest in these tests (Cai et al., 2020); however, DTC-GT use was to be linked to “birth family thoughts” and curiosity about one's birth family (Cai et al., 2020). This finding has been confirmed among adult adoptees, as Lee et al. (2021) found that individuals searching for their birth parents showed a greater interest in DTC-GT. Information about ancestry and ethnic origins (Cai et al., 2020) and social identity (Edgar et al., 2022) are also important factors in DTC-GT uptake. For example, social identity has been found to mediate the link between adoption and interest in genetic testing (Lee et al., 2021). Lastly, older age is linked to greater interest in genetic testing (Lee et al., 2021). In contrast, lack of motivation for pursuing DTC-GT, and in some cases outright rejection testing, is associated with greater awareness of the ethical challenges surrounding the confidentiality of genetic data (Kay & Taverner, 2022; Lee et al., 2021; Strong et al., 2017), the fear of not knowing how to deal with the information they receive, and a lack of knowledge about the type of information that is collected by the DTC-GT company (Strong et al., 2017).

1.5 Ethical issues surrounding Adoptees' use of DTC-GT

The ethical issues specific to adoptees' use of DTC-GT have been explored in a number of studies, although Kay and Taverner (2022)'s qualitative study revealed that adoptees themselves have little knowledge of or concern for the ethical implications when they pursue DTC-GT. Some authors agree that lack of knowledge about one's medical family history is a major issue that can cause healthcare disparities (Lee et al., 2016; May, 2019; May & Fullerton, 2021). This lack of knowledge also has repercussions on adoptees' ability to envision themselves in the future. Indeed, adoptees who know nothing about their family health history may feel unable to fully engage in a life plan (Casas, 2018; James, 2018; Lee et al., 2016; Lord, 2018; May, 2019; May & Fullerton, 2021; May & Grotevant, 2018). May and Evans (2020) suggested tackling the problem from an economic perspective, explaining that making genetic screening available to all adoptees to remove such disparities could be cost neutral. However, James (2018) expressed opposition to this systematic approach, arguing that tests should be neither systematically offered nor refused. In any case, although these tests may reduce health inequalities, DTC-GT alone would not alleviate the disparities experienced by adoptees (May et al., 2015; May & Fullerton, 2021). A further issue concerns the risks associated with these tests, notably the wrong interpretation of test results and the possibility of false positives, resulting in negative changes in health habits or unwarranted stress (Fullerton, 2016; Kay & Taverner, 2022; Linehan, 2021; Lord, 2018; May & Fullerton, 2021; Quintáns et al., 2014). Regarding the visibility of personal information on a platform, research has shown that people who have already been very open about their story are unconcerned about the sharing of their personal data, whereas others regret this exposure, often out of fear of harming their birth family (Kay & Taverner, 2022).

1.6 Emotional issues surrounding Adoptees' use of DTC-GT

The emotions related to adoptees' use of DTC-GT are an important consideration and have already been explored in both quantitative and qualitative studies. Although most users reported satisfaction with their DTC-GT experience (Kay & Taverner, 2022; Lee et al., 2021), adoptees may feel more negative emotions before receiving results than the general population (Baptista et al., 2016), as they feel that they have so much at stake. They also have stronger emotional reactions to results potentially matching them with members of their birth family, compared with their reactions in receiving other types of results from the test (Childers, 2017). Emotional ambivalence has also been described, and comes through clearly in semi-structured interviews (Kay & Taverner, 2022; Strong et al., 2017). Users may feel peace of mind and gratitude when they receive the results, but any gap between their expectations and the reality may trigger frustration, especially if only distant genetic relatives are found. The results about ancestral and ethnic origins can also trigger or exacerbate identity conflict, especially when the information does not correspond to what adoptees think they already know. Finally, adoptees may have an emotional shock if they receive unexpected medical information for which they were unprepared.

Given the many emotional implications, there is now a consensus that adoptees should be offered help and support throughout the genetic testing process (Linehan, 2021; May & Fullerton, 2021; Straughn, 2023). Authors have emphasized the importance of raising awareness among adoptees, especially given the coverage of DTC-GT on social media. Although most individuals are keen to receive support around this testing (Baptista et al., 2016; Childers, 2017; Kay & Taverner, 2022; Strong et al., 2017), they often have difficulty finding healthcare professionals who are sufficiently well versed in the issues surrounding DTC-GT for adoptees. Others are unwilling to bother their family physician about this matter (Kay & Taverner, 2022).

1.7 Limitations of previous studies

Although recent research has shed light on facets of the psychological and ethical issues surrounding adoptees' use of DTC-GT, a number of biases prevent some of their results from being generalized. Moreover, since research into this topic is still relatively new, there remains many unknowns and areas to explore. On a methodological level, the results of qualitative studies are relevant because of their fine-grained nature. More quantitative studies would make it possible to generalize these results further. Moreover, as emphasized by Kay and Taverner (2022), there has been a dearth of research on adoptees' representations of genetic testing and their actual experiences of using DTC-GT, even though a better understanding of these perspectives would allow professionals to provide more targeted help and support. Very few published quantitative studies have explored adoptees' experience of using these tests, and statistically valid comparisons between adoptees who have or have not used these tests are lacking. Without these data, researchers have not been able to identify the specificities of the DTC-GT users and are there unable to above all to understand how the tests respond to their psychological needs. Another neglected area of study concerns the different DTC-GT experiences between domestic and international adoptees. Lastly, research has yet to identify individual factors, such as psychological profile, social support, variables linked to the adoption pathway, that might affect adoptees' interest in and use of these tests, nor have the psychological challenges of DTC-GT in this population been explored.

1.8 Objectives

The purpose of this study, conducted in the Canadian province of Quebec, was to describe adoptees' experiences of using DTC-GT, together with the determinants of this use: which factors related to socio-demographic characteristics, adoption characteristics or psychological characteristics determine the use or not of DTC-GT and the experience of this use?

2.1 Phase 1: Quantitative survey

2.2 Phase 2: Qualitative semistructured interviews

2.3 Phase 3: Integration of quantitative and qualitative results

We integrated the quantitative and qualitative data using the Pillar Integration Process (Johnson et al., 2019). This technique allows quantitative and qualitative results to be merged after the data have been analyzed separately. It is replicable and transparent, and yields a synthesis of the data. It takes the form of five columns and unfolds in four phases: (1) listing of the raw quantitative or qualitative data and their categorization; (2) matching of the raw data and categories yielded by the quantitative analysis with those yielded by the qualitative analysis (or vice versa); (3) checking for matches; and (4) pillar building, where the categories produced by each analytical technique are compared and contrasted, to define integrated themes.

3.1 Socio-demographic and adoption pathway characteristics

Power analysis was performed to determine the appropriate number of participants, using G*Power software (Faul et al., 2009). Setting the software to “difference between two independent means”, adjusting the parameters of expected effect size to a small-to-medium level (d = 0.20), the power to 0.85 and a statistical significance (p-value) threshold to 0.05, the corresponding number of participants required to achieve power for a total sample of 102. As such, the DTC-GT group sample size was satisfactory; however, the non-users' group did not meet the required threshold of 51, which is equal to the half the required number of the DTC-GT group (n = 40). There were no differences between the two groups per the sociodemographic variables, except for age, in which non-users were significantly younger (M_age = 62 vs. 53 years; p < 0.001).

3.2 Internal consistency

Regarding attachment, we found very satisfactory internal consistency for the security dimension (α = 0.89), and acceptable internal consistency for detachment (α = 0.64). We also found very satisfactory internal consistency for the two sub-scores of anxiety and depression (α = 0.87 and α = 0.89), resilience (α = 0.89), and psychological distress (α = 0.88). Internal consistency was satisfactory for the social support total score in our sample (α = 0.67). Internal consistency for the original version was α = 0.64, which the authors attributed to the small number of items.

3.3 Pillar integration of mixed results

Table 2 summarizes the results of the integrated data analysis carried out using the Pillar Integration Process. Only significant results of interest are shown. More details about the quantitative results are available as Tables S1 and S2.

3.4 Theme 1. Search for birth parents as a major source of motivation

Regarding participants' motivations for using DTC-GT, the quantitative and qualitative results are well aligned. Virtually all (96%) of the survey respondents in the DTC-GT group reported using DTC-GT to search for their birth parents. Interview data revealed a variety of reasons why familial reunion was so important; some adoptees felt a strong need to meet someone they looked like or to belong genetically to a family, whereas others wanted to reassure their birth parents that everything had worked out fine for them. Additional motivators related to identity and transmission include participants' search for medical risk factors, so that they could take better care of their health; the desire to know more about their ancestral ethnic origins; and straightforward curiosity.

3.5 Theme 2. Understanding and interpreting the test results: Not always straightforward

The integrated data analysis highlighted the importance of properly understanding the test results. The majority of participants who completed the questionnaire (60%) did not seem to have any difficulty in understanding the test results. However, a non-negligible proportion of participants did experience difficulties (30%; 10% of participants did not wish to comment). However, when we interviewed some of the participants who said they had no difficulties, we realized that they did initially have problems, but sought advice from experts or adoption charities. A number of those who stated that they had had no difficulty whatsoever had potentially needed help to fully understand the information.

3.6 Theme 3. Caught between the need for autonomy and the need for advice

Regarding additional help, although a sizeable minority of participants (26%) stated in the questionnaire that they would have liked more help with using DTC-GT, most of them seemed satisfied with the amount of help they had received (60%). Analysis of the interviews indicated that the assistance provided by adoption charities is both effective and necessary, as many participants who were unwilling or unable to access it had difficulty understanding the results and all the ins and outs of the testing process. The ability to find information and track down experts is therefore key. Nevertheless, the need for autonomy was raised by several participants during the interview and explains why most of them claimed that they had not needed any particular help. By undertaking these searches on their own, they found it easier to take ownership of their story.

3.7 Theme 4. Ethical issues surrounding DTC-GT: practicalities of the search for identity versus more abstract risks

Most of the participants (64%) did not have a stance on the regulation of DTC-GT when they responded to the questionnaire and 30% of the participants felt that it should remain available to them, 10% said it should be more regulated. With regard to access to tests and the sharing of genetic data, opinions were clearer, particularly in the interviews. Some participants seemed to have a very favorable opinion of genetic testing for adoptees, and seemed extremely well informed and willing to share their genetic data. Others, however, were troubled by the fact that their genetic data would be stored and used for other purposes. Nevertheless, they felt that the advantages of the tests far outweighed any ethical drawbacks or the potential benefits of tighter legislation. Through the interviews, we found that many respondents did not report a firm stance on this topic, which could be attributed to the fact that it was hard to feel concerned about such vague and abstract potential risks, when the impact of testing in terms of their identity was so concrete and immediate.

3.8 Theme 5. Experience of using DTC-GT: resolution of identity conflict or disappointment?

Most respondents to the questionnaire (87%) reported having a good or very good experience of using DTC-GT, and did not feel any negative emotions during the process. The interviews revealed that ease of use contributed to this experience, but it was the impact of the results and all that followed (familial reunions, etc.) on the individuals' lives that made this experience such a positive one. For some participants, the resolution of identity conflict brought them greater well-being and inner peace, which may explain why users exhibited less anxiety than non-users. The least positive experiences occurred when participants received disappointing results (little information, and therefore no familial reunion) or, if the respondent felt the lack of help in understanding the results particularly keenly. The participants we interviewed unanimously stated that to have a positive test experience, it was important to avoid entertaining overly high expectations and to be ready for every eventuality in terms of test results.

3.9 Theme 6. Support from close friends and family and emotional state as twin predictors for positive experiences and pursuing DTC-GT

Regarding the factors predicting the use and experience of using genetic testing, our quantitative and qualitative analyses complemented each other, as they both indicated that adoptees' decision to pursue DTC-GT was influenced by their social circle. Being a member of an adoption charity made it more likely that the respondent had come into contact with people who had already undertaken DTC-GT and who could give them practical information. Some adoptees acknowledged that they only felt at liberty to engage in this testing after the death of their adoptive parents, which might explain the older age of DTC-GT users in this study compared with non-users. Their psychological and emotional state also appeared to be decisive in both the quantitative and qualitative analyses. More specifically, statistical analysis of questionnaire responses showed that psychological distress was associated with participants' experience of using genetic testing. This was perfectly illustrated in our interviews, as participants indicated that waiting until they were emotionally ready to receive the test results and to accept potential rejection or disappointment was a major predictor of whether they described having a positive or negative experience.

4.1 Theoretical contributions and clinical implications

The present study enhances the current understanding of adoptees' perspectives and experiences when using DTC-GT. Our findings will make it easier to identify this population's needs in terms of DTC-GT, which is so very important to them. To the best of our knowledge, ours is the first study to have used a mixed method to explore this subject, yielding novel results. The large sample in the quantitative phase allowed us to identify generalizable trends, whereas the qualitative interviews allowed us to refine, illustrate, and understand these trends. Our comparison of users versus nonusers also made a novel and substantial contribution, by highlighting the lower levels of anxiety among the former. Lastly, by examining the determinants of the use and experience of using genetic testing, not only at the psychological level but also in terms of the adoption pathway, we were able to identify both potential risk (e.g., psychological distress) and protective (e.g., membership of an adoption charity) factors that need to be taken into account.

Our results also allowed us to come up with the following set of recommendations for supporting adoptees. First, it is vital to develop services that can help them search for their birth parents, as this seems to be their primary motivation for pursuing DTC-GT. Solutions that are more carefully supervised and have fewer ethical issues might be appropriate for some individuals. For example, support from genetic counselors could be provided at the search and contact stages, and efforts could mediate any unrealistic expectations and increase awareness among the most vulnerable individuals, notably young adults. When adoptees do pursue a DTC-GT, they should be offered accurate advice on how to understand the results, whether through a health professional or through a referral to charities that can give them the accurate and appropriate information. This would also create an opportunity to raise awareness of the ethical issues. These recommendations could be extended to all users of DTC-GT, not just adoptees. In summary, if no other solutions are available, DTC-GT is a promising and positive option, but users need to be offered help and support. Given that this role is partially fulfilled by charities at present, it is important to raise awareness within these communities, so that they can positively influence their members.

4.2 Limitations

Our results may have been affected by several potential biases. First, despite our best efforts, our two groups had unsatisfactory gender ratios, possibly because men are less active on social media (Alzahrani, 2016). Second, our sample was not particularly representative in terms of age, as we had only limited responses from participants in the 20–30-year age group. Our results therefore reflected the experience of adoptees aged 50–70 years, and it would be hard to generalize them to younger populations who, per our study, find DTC-GT use complicated. This recruitment bias can be attributed to the lower use of genetic testing by younger individuals, as well as the historical adoption statistics for Canada. Between 1924 and 1968, many children who were born out of wedlock were placed for adoption. These numbers fell dramatically between 1965 and 1975, a period of profound social change in Quebec (Couvy, 2017). This may partly explain why our sample was mainly made up of domestic adoptees. Our results cannot therefore be generalized to international adoptees. We can hypothesize that the latter use genetic testing less than domestic adoptees, as they are less likely to find a match with birth parents living in developing countries where genetic testing is less common. The small number of participants in the qualitative part of the study (n = 5) may also be a limitation; however, the interviews that were performed were useful in illustrating and enriching the quantitative data. Participation bias may have also affected our ability to recruit non-users. As such, comparisons between the two groups (DTC-GT users vs. non-users) must be considered with caution. Information regarding participants' race and ethnicity was not collected due to restrictions in French law on this subject (one of the co-authors is French). This limits the applicability of this work for diverse populations which are likely to have more significant impacts on identity and experience of the adoption system itself. Finally, having recruited participants through adoption charities may have implied a bias, as these associations support their members, most notably in their search for familial origins. Our participants may not be fully representative of the population of adoptees who use and do not use DTC-GT.

4.3 Perspectives

From a methodological point of view, future studies should ensure a broader representation of individuals of various ages and gender identities. It would also be relevant to explore differences between the experiences of domestic adoptees (both Indigenous and non-Indigenous adoptees), as well as international adoptees on the use of DTC-GT, and whether race or ethnicity is a factor on test uptake. A longitudinal study would be useful to gain better insight into the psychological effects of genetic test use. Cases where adoptees report negative or even very negative experiences of using DTC-GT could then be investigated in greater depth. Our results suggest that it would also be interesting to assess at the impact of DTC-GT use on adoptive parents. Lastly, a comparison between adoptees in Quebec and adoptees in other countries with stricter legislation on genetic testing (e.g., France, where DTC-GT is banned) could also be relevant. Such a comparison would make it possible to assess the impact of testing restrictions on practices and experiences, with a view to informing lawmakers.