This study is the first to report the psychosocial experience of young Portuguese adults at genetic risk for hATTR-PN and extend previous scientific evidence on the experience of members of families with the disease (e.g., González-Moreno et al. 2021; Lopes et al. 2018; Magliano et al. 2021). The main findings suggest that four themes mark the psychosocial experience of the young adults interviewed. The first refers to the development of psychological representations, namely beliefs, mental representations, and social perceptions about hATTR-PN. The second regards the experienced and anticipated psychosocial impacts, namely, suffering, anxiety, and relief related to the disease. The third is related to using strategies such as performing PST, strategies focused on emotional regulation and the meaning of hATTR-PN, and social strategies to deal with these impacts over time. Finally, the fourth aspect concerns the perceived and expected support for the participants’ needs provided by social contexts, that is, family and genetic counseling.

For the young adults, it was mainly during their family experience with the disease that psychological representations of hATTR-PN were developed, as already reported in other studies (e.g., Leite et al. 2016; c; Mendes et al. 2017). Specifically, participants expressed having known the characteristics of the disease and its consequences through family experience with relatives affected by hATTR-PN, as previously described by Leite et al. (2017a, b, c) and Lopes et al. (2018). Nevertheless, some young adults overestimated the perceived risk in relation to the actual 50% risk of having or not having any of the genetic variants associated with the disease. Although, according to the results presented by Leite et al. (2017b), it may be mainly older adults who show an increased perception of risk compared to younger adults, it cannot be ruled out that young adults may also build beliefs about an increased individual probability of developing hATTR-PN. In fact, different experiences of family illness (e.g., how the disease developed or not in the family, or the existence or not of losses related to hATTR-PN) and the reflections they gave rise also to seem to have influenced the development of beliefs and mental representations on the part of the young adults interviewed. Despite this being a developmental period particularly focused on establishing young adults’ autonomy from their parents and exploring their identity (Willoughby et al. 2021), results highlight the family as the primary source of knowledge and learning about hATTR-PN (Leite et al. 2016; Paneque et al. 2019). It was also during their family experience with the disease that some participants said they had developed perceptions of social stigma associated with hATTR-PN, which can affect crucial choices typical of this period of life (e.g., romantic/reproductive decisions and career choices; Willoughby et al. 2021), a result previously reported by Mendes et al. (2017).

The experience of the family illness also had a psychosocial impact on the young adults interviewed. Specifically, monitoring the development and respective consequences (e.g., social stigma) of hATTR-PN in the family, as well as experiencing the process of undergoing PST, gave rise to episodes of suffering and anxiety in some participants, which is in line with what has already been reported in other studies (e.g., Lopes et al. 2018; Matos and Carvalho 2015; Mendes et al. 2017). Notably, in addition to the uncertainty about whether they have inherited the disease-causing genetic variant or not (which in it-self can impact the identity development typical of young adulthood; Willoughby et al. 2021), some participants reported feeling that their family exercised some control over their decision-making regarding PST, a result already described by Matos and Carvalho (2015). Older generations can play roles in promoting health and managing genetic risks concerning younger generations (Oliveira et al. 2017a, b, 2021), and this can be assumed to be a protective factor in families with hATTR-PN (Lopes et al. 2018). However, attempts by family members to control the individual choices of young adults can add psychosocial impacts to a developmental period generally marked by a growing autonomization of decision-making based on the interests and preferences of the younger individuals (Willoughby et al. 2021).

Furthermore, the emotional and relational impacts of the possible results of the PST, anticipated by young adults in this study, can influence changes in family dynamics and communication patterns (Lopes et al. 2018a; Matos and Carvalho 2015) and the development of perspectives on future life projects (Lopes et al. 2018a; Matos and Carvalho 2015) characteristic of this developmental stage. This possibility adds new challenges to an already unstable time of life (i.e., where there are often changes in love partners, jobs, educational directions, and living arrangements; Willoughby et al. 2021). Even so, as reported by some participants, a positive adaptation to a carrier or non-carrier result of hATTR-PN (Lêdo et al. 2013; Matos and Carvalho 2015), as well as a balanced functioning of families with the disease (Lopes et al. 2018) are possible. However, reduced impacts of the psychosocial experience with hATTR-PN, such as those already reported by Matos and Carvalho (2015), Rolim et al. (2006),) and others exemplified by a young adult in this study who is a member of a family with late-onset hATTR-PN (viz., P5), may pose additional challenges to clinical practice with this population (Inês et al. 2018). Specifically, individuals at risk for hATTR-PN may show a better response to PST than individuals who are at risk for other late-onset genetic neurodegenerative diseases because of the availability of disease-modifying therapies (Rolim et al. 2006). However, Lêdo et al. (2018) suggested that genetic counseling professionals should focus on psychologically supporting at-risk persons rather than paying more attention to the PST result.

As mentioned previously, the average age of onset and the representativeness of patients with a late-onset hATTR-PN have increased in Portugal (Inês et al. 2018). Additionally, a diminished multigenerational experience with the disease in individuals of families with a late-onset of the condition differs from the traditional life trajectories associated with hATTR-PN in the country (Lopes et al. 2018). These two facts may lead to a lack of information related to genetic risk and its associated psychosocial implications in members of families with late-onset hATTR-PN. According to Rolland and Williams (2005), this may provoke a reduced concern about the disease and, in effect, sharpest future emotional transitions as the individuals become aware of these genetic issues with a predictable impact on their developmental tasks.

Given the impacts experienced and anticipated, PST was the strategy favored by the participants to deal with the emotional and relational challenges associated with their genetic risk status for hATTR-PN, which is in line with what was reported by Leite et al. (2017a) and Matos and Carvalho (2015). More specifically, while undergoing PST can be a resource in the very exploration of the typical identity of young adults (Leite et al. 2017a; Matos and Carvalho 2015; Willoughby et al. 2021), a PST result can define the sense of mastery in coping with a treatable disease (Leite et al. 2017a; Matos and Carvalho 2015; Rolland 2012), which is supported by the accounts of some participants. In line with what was reported by Leite et al. (2016) and Leiteet al. (2017a, b, c), the psychosocial experience of participants in this study is also characterized by the use of other strategies, such as those focused on emotion, meaning-making and seeking social support (viz., in the three vital interaction systems of young adults: parents, friends, and romantic partners; Willoughby et al. 2021). For successful long-term adaptation to the disease, individuals and families benefit from regulating negative emotions associated with hATTR-PN (viz., gradually accepting the disease), creating meanings that support the feeling of mastery and competence, as well as seeking emotional or instrumental support from others (Moos 1984; Rolland 2012; Rolland and Williams 2005). Even so, following Rolland (2012) and Rolland and Williams (2005), the quality of the fit between the psychosocial challenges associated with the condition and the functioning and resources of the support contexts determines the quality of coping and adaptation to the disease.

Moreover, the perceived support for the participants’ needs provided by social contexts influenced their own psychosocial experience with hATTR-PN. Specifically, different family communication dynamics seemed to influence the support perceived by some participants to respond to a disease understood as familial and intergenerational (Rolland 2012; Rolland and Williams 2005). Bearing in mind that the family plays a vital support role in the various stages of adaptation to genetic risk and the disease, the experience with hATTR-PN can be influenced by how the family context (a) transmits the experiences of confronting and managing the disease; (b) facilitates or hinders the passage of and access to information about hATTR-PN; (c) encourages or discourages the implementation of risk management measures, early detection, and treatment; and (d) provides emotional and instrumental support (Oliveira et al. 2017a, b, 2021). Following the results presented by Oliveira et al. (2017a, b, 2021), it is then possible that these family dynamics may, in turn, affect the way young adults become aware of the disease and cope with it (e.g., whether they carry out PST or not), influencing the very exploration of identity typical of this developmental period (Willoughby et al. 2021). Furthermore, in a phase marked by active consideration of PST and, according to Willoughby et al. (2021), by increasing autonomy in the decision-making process, genetic counseling, as a psychoeducational support context, can help adjust the young adults’s awareness of hATTR-PN. The psychoeducation provided throughout the PST process can provide a vital support context to mitigating possible maladaptive impacts associated with the test results. In this process, genetic counseling professionals play a crucial role in helping families (and, particularly, their young adults) by providing a psychosocial understanding of the disease in practical, emotional, and longitudinal terms (Lopes et al. 2018a; Rolland 2012; Rolland and Williams 2005). Specifically, genetic counseling professionals can help young adults at risk for hATTR-PN in communication processes, decision-making, and developing contingency plans associated with their developmental tasks (viz., those related to their love/reproductive and professional lives; Rolland and Williams 2005). The professionals may also help family members acquire a common understanding of the biopsychosocial aspects of the disease, facilitating family communication that is more focused on coping strategies and adaptation to genetic risk and hATTR-PN.

The results reported in this study contribute to filling gaps in the understanding of the psychosocial experience with hATTR-PN in a population with unique developmental characteristics (Willoughby et al. 2021). Nonetheless, they should be carefully read and interpreted due to the small number of participants that characterizes qualitative research such as this. Additionally, although various validity and reliability procedures have been implemented to ensure the methodological integrity of the data, subsequent studies may incorporate additional analytical processes (e.g., conducting follow-up interviews with study participants and providing them with an opportunity to comment on the results, as well as introducing intercoder agreement processes), further strengthening the validity and reliability of their findings. Since the purpose of this research is restricted to the specific description of the psychosocial experience of young Portuguese adults at genetic risk for hATTR-PN in a particular spatiotemporal context, the transferability of these results to other populations, diseases, and contexts is limited. Furthermore, the sample studied included only young adults who underwent PST at the CGPP (excluding individuals with severe cognitive impairment), so further research could verify the generalizability of these data to the population of young Portuguese adults at genetic risk for hATTR-PN in general and in other countries.

This study has implications for future research, policies, and practices. Firstly, an in-depth study on the psychosocial experience of members of Portuguese families with late-onset hATTR-PN can help extend the evidence reported in this research, filling gaps and optimizing the health services that support the individuals of families with the condition in the context of genetic counseling. Secondly, strengthening the implementation of collaborative policies between local health services and patient associations can help to enhance their important work in providing psychosocial support to patients and their families. Thirdly, this study provides clues that can contribute to optimizing the practice of genetic counseling with young adults by considering the developmental tasks and specific psychosocial needs of this population in a biopsychosocial intervention process. For example, psychoeducational or support groups can be designed to meet the needs of young adults at risk for hATTR-PN in coping with the various forms and stages of the disease, empowering the individuals for the psychosocial challenges of the illness and preventing risks of maladaptation to PST results.