What people really change after genetic testing (GT) performed in private labs: results from an Italian study
Understanding behavioral changes and decisions related to a genetic test result, and the individual tendencies that induce people to make certain choices, has always been an important question in the context of modern, advanced, and accessible genetic technologies [17, 21, 30,31,32]. Our contribution provides evidence of the long-term impact of genetic test results and genetic risk communication in a European population, the Italian one, where the market of genetic tests is slowly catching on. In particular, we tried to describe how some health behaviors, risk behaviors, choice of sharing results, and psychological tendencies, including anxiety which is highly debated in the literature, change at 6 months and 1 year after receiving the GT results. As summarized in the “Introduction,” the influence of certain socio-demographic and clinical aspects of our sample of Italian GT users on the intention to change after results have already been discussed in other contributions [26, 27] belonging to the Mind the Risk joint European research program (see “Funding”).
What emerged from our follow-up assessment is that approximately the same percentage of participants who, at baseline, stated that they wanted to change their behavior following GT results, actually did so after 6 months (50% with positive results and 21% with negative results). This percentage increased after 1 year (62.3% positive results and 29.9% negative results), regardless of the positive/negative connotation of results. This would lead us to believe that only people who, from the outset, approach the test with the idea that a genetic predisposition can be “manageable” through their own behavior and who have a high motivation to change, use their results for an effective change of conduct. Support for this idea can also be found in the previous study on the Italian population of GT consumers, which highlighted the presence of high motivation and an internal locus of control (the belief that health is under your own responsibility) in the majority of clients [27].
What is more interesting now is that a high percentage of subjects who had received a negative outcome (meaning that the genetic variant explaining their clinical condition was not found) also preferred to adopt a healthier lifestyle after receiving the results. In particular, our data showed that at 6 months this group of subjects began to have more regular medical checkups, even more frequently than those who had received a positive result (although this trend was not confirmed at 1 year). One hypothesis is that the population approaches genetic tests with the idea of finding an almost unequivocal answer to their clinical condition or family “inheritance,” and if such “confirmation” cannot be found in their genetic makeup, they feel the need to look for an explanation through other screenings. They basically find no answer to their “clinical question,” to their expectations regarding GT results, but this “anxious” search for an unequivocal answer tends to wane over time (after 1 year).
The specific analysis by crossing the type of test performed and the test result, showed that a positive result in GT for food intolerance significantly influenced clients’ changes in lifestyle over time, and a negative result in GT for cancer affected the decision not to change at 1 year from results. These findings suggest that the absence of a known variant that predisposes to the risk of cancer makes people feel erroneously reassured, in light of the fact that a large part of tumors has no genetic origin. This is in line with previous evidence which indicates that “false” reassurance may lead to a reduced adherence to necessary evaluations or surveillance, to ignore other risk factors that contribute to disease, or to engage in potentially negative health behaviors [33,34,35,36]. In contrast, a positive genetic test result for food intolerances results in a direct change in health habits (supposedly in their diet).
In a more general analysis relating to the actual long-term behavioral changes adopted by this sample of GT users, a healthier diet and generalized “awareness and attention” toward their own health remain the most mentioned aspects. Physical activity and preventive medical screening remain among the initial intentions and are not confirmed as effective lifestyle changes adopted after 6 months or 1 year.
Overall, risk tolerance and overconfidence do not seem to have a great effect in determining the decision to make lifestyle changes post-GT results, even if at 1 year, people who had a very low risk tolerance resulted in having changed their lifestyle and habits more frequently. This result must be interpreted with caution, due to the fact that we measured participants’ risk attitude with measurements validated in the financial area, and not in healthcare research. As Nicholson et al. [37] argue, risk behavior is patterned: some people have a consistent risk propensity across areas of their life, while others have domain-specific patterns. This implies that risk attitude in one situation is not entirely generalizable to risk propensity in another domain, and personality profiles should be used to predict context-specific risk attitudes and overall risk-taking. Nevertheless, our results can give an indication of whether these variables should be investigated in a genetic risk information field.
Concerning changes over time in psychological tendencies, our data showed that the effect of time after the receipt of GT results reduced anxiety and worry related to one’s health, but at the same time also reduced motivation for health promotion and prevention, health esteem, and positive expectations toward ones’ own health in the future. Such results could mean that GT results do not cause a harmful increase in anxiety, as widely discussed and debated in past literature [38, 39], but induces people to think about their future health condition in slightly more “negative” terms, with the expectation of falling ill in the future. Their positive perception of physical well-being decreases and worryingly also decreases their motivation to avoid the diseases, probably because they believe that they cannot completely avoid health problems in the future because of their genetic makeup. This always leads to a partly deterministic perception of genetic predisposition [20, 40]. Another possible interpretation is that a reduced motivation might simply due to the feeling of having already made the necessary changes (if someone is already eating healthily, their motivation to further change their diet might be pretty low, and therefore they may seek other medical solutions to counterbalance the risk).
Our analyses also revealed that clients who claimed to have actually changed their lifestyle at 6 months had significantly higher levels of anxiety than those clients who made no changes. This is an index which demonstrates that, as already argued in the literature, genetic tests do not cause harmful anxiety since the values do not correspond to clinically worrying values. To the contrary, anxiety in this case can act as a mechanism for lifestyle and health behavior changes [2].
Our data are partially in contrast with what was observed in other studies, for instance that of Bloss et al. [6, 7] who evaluated clients’ reactions 3 and 12 months after GT. This evaluation showed no measurable influence on test-takers in terms of anxiety, use of screening tests among test-takers, nor positive lifestyle changes. Nevertheless, we should consider that the sample from Bloss et al. comprised adults primarily recruited from health and technology companies. These recruits underwent DTC-GT within the first years of its commercialization, so they can be defined as early users of novel technologies and as “lay expert” co-constructors of these techniques [8]. Although early users were moved by their “curiosity” to assess their personal risk susceptibilities or to compare their personal genetic risk factors against their family history of disease, they were also aware of the limited added value of this kind of information for life-altering or lifestyle changing in the absence of a clear clinical application of genetic results. Early adopters of DTC-GT were also motivated by the professional interest in having their personal genome scanned to gain first-hand experience on the product itself. Thus, as observed by McGowan et al. [8] these users fall into a particular category of consumers when compared to our sample of ordinary citizens.
Finally, from the data it emerged that, as regards GT clients’ long-term contacts with the genetic Lab performing the analysis and the decision taken on sharing results, the physician’s professional figure remains important in mediating the management of the result and the possible implications related to health/behavior. In Italy, therefore, a phenomenon of pure DTC-GT does not emerge, since in most cases the doctor is present from the outset as a mediator for the analysis and after some time as a support to interpret results (around 60% of clients approached the test through their physician or with his/her help). As already emerged in the previous study, conducted on all clients enrolled at baseline and currently in press [26], the physician seems to be an important reference figure for managing the genetic results. Despite this, in our current analysis a good percentage of clients preferred to receive their result privately and to be guided by the services offered in a direct relationship with the genetic company (around 35.4% maintained direct contact with GenomaLab). This percentage increased over time if we also consider here the increased number of people who further decided to have “direct contact with the help of physician” at 6 months and 1 year, thus demonstrating a certain desire for freedom in handling the implications of such results [41]. The majority of clients also stated that they shared their results at with the physician (more than 80% if we consider the average of all the different time-points). This demonstrates a frequent shared collaboration between the referred doctor and the patient in genetic decision-making and an attribution of confidence in the doctor.
In this context, however, even if not often mentioned by research participants, the role of the geneticist and genetic counselor should be stressed and further investigated, since their role will be of increasing importance in the future. Indeed, without the appropriate support of geneticists to address the uncertainties that people and families have to manage in the face of a genetic result, the process of coping, adaptation, empowerment, and increase in perceived control toward health could be unsuccessful. Genomics is an area of great development and the role of geneticists and genetic counselors should be optimized.
Finally, with regard to the choice of sharing test results with family members, only a third of participants stated prior to testing that they intended to do so. However, at 6 months more than 50% and at 1 year more than 70% shared results with their families. We wonder whether this choice could be linked to the positive or negative result received, given that the reasons that emerged in past literature for not disclosing results included that test results were uninformative or negative for specific variants [42, 43]. Instead, our results showed that, in the Italian population of GT users, this aspect did not influence participants’ tendency to share their genetic information with family members.
From the literature, we know that there are several other challenges associated with sharing genetic test results within families, including an incomplete understanding of test results, an emotional distance between family members and poor communication skills [44]. Gallo et al. [45] summarized the most common reasons for the disclosure of results within a family, such as a close social relationship with the relative, the need for support, or a perceived need to retrieve information about familial risk. In contrast