This study, the first to report specificities of the psychosocial experience stated by young Portuguese adults at genetic risk for hATTR-PN, extends previous scientific evidence on the experience of members of families with the disease (e.g., González-Moreno et al. 2021; Lopes, Sousa et al. 2018; Magliano et al. 2021). The main findings suggest that the psychosocial experience of the young adults interviewed is marked by: (a) the development of psychological representations (viz., beliefs, mental representations, and social perceptions) about hATTR-PN, (b) experienced and anticipated psychosocial impacts (viz., suffering, anxiety, and relief) related to the disease, (c) the use of strategies (viz., performing PST, strategies focused on emotional regulation and the meaning of hATTR-PN, and social strategies) to deal with these impacts over time, and (d) the perceived and expected support for the participants' needs provided by social contexts (viz., family and genetic counseling).
For the young adults interviewed, 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; Leite, Leite et al. 2017; 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, Leite et al. (2017) and Lopes, Sousa et al. (2018). Nevertheless, there were young adults who 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, Dinis et al. (2017a), 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., the way in which 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 to also seem to have influenced the development of beliefs and mental representations on the part of the young adults interviewed, because, despite this being a developmental period particularly focused on establishing their autonomy from their parents and exploring their identity (Willoughby et al. 2022), the family continues to be the main 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 certain young adults interviewed said they had developed perceptions of social stigma associated with hATTR-PN, which can affect crucial choices characteristic of this period of life (e.g., about their love/reproductive and professional life; Willoughby et al. 2022), 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 carrying out the PST, gave rise to episodes of suffering and anxiety in participants in this research, which is in line with what has already been reported in other studies (e.g., Lopes, Sousa et al. 2018; Matos and Carvalho 2015; Mendes et al. 2017). Particularly, as well as having to live with the anguish of being uncertain whether they have the disease or not (which in it-self can affect the exploration of identity characteristic of young adults; Willoughby et al. 2022), 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). Although older generations can play roles in promoting health and managing genetic risks in relation to younger generations (Oliveira et al. 2017a, b, 2021) and this can be assumed to be a protective factor in families with hATTR-PN (Lopes, Rodrigues et al. 2018), 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 these younger individuals (Willoughby et al. 2022). Nevertheless, 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, Rodrigues et al. 2018; Matos and Carvalho 2015) and the development of perspectives on future life projects (Lopes, Sousa et al. 2018; Matos and Carvalho 2015) characteristic of this developmental stage, adding 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. 2022). Even so, and also in line with certain discourses of the young adults interviewed, a healthy 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, Rodrigues 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) and others exemplified in the discourse of a young adult in this study who is a member of a family with late onset of the disease (viz., P5), may pose additional challenges to clinical practice with this population (Inês et al. 2018). Specifically, based on Rolland and Williams (2005) and taking into account the increase in the average age of onset and the representativeness of patients with a late-onset hATTR-PN in Portugal (Inês et al. 2018), the diminutive multigenerational experience with the disease in individuals belonging to these families (compared to the traditional life trajectories associated with hATTR-PN in the country; Lopes, Sousa et al. 2018) may translate into a lack of information related to genetic risk and its associated psychosocial implications, causing them to be less concerned about the disease and, therefore, a possible more accentuated future emotional transition as they become aware of this data with a predictable impact on their developmental tasks.
In view of the impacts experienced and anticipated, PST was the strategy favored by the young adults in this study 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, Dinis et al. (2017b) and Matos and Carvalho (2015). More specifically, while the completion of the PST can be a resource in the very exploration of the typical identity of young adults (which includes planning crucial choices about their love/reproductive and professional lives; Leite, Dinis et al. 2017b; Matos and Carvalho 2015; Willoughby et al. 2022), a PST result can define the sense of mastery in coping with a disease with treatment possibilities (Leite, Dinis et al. 2017b; Matos and Carvalho 2015; Rolland 2012), corroborating discourses of participants in this research. In line with what was reported by Leite et al. (2016) and Leite, Leite et al. (2017), the psychosocial experience of participants in this study is also characterized by the use of other strategies, such as those focused on emotion, meaning and seeking social support (viz., in the three vital interaction systems of young adults: parents, friends and romantic partners; Willoughby et al. 2022). To optimize well-being, regulating negative emotions associated with hATTR-PN, creating meanings that support the feeling of mastery and competence, and seeking emotional or instrumental support (viz., from significant vs. non-significant people), for example, can be crucial adaptive tasks in the face of the psychosocial impacts related to living with the disease (Moos 1984; Rolland 2012; Rolland and Williams 2005). Even so, as Rolland (2012) and Rolland and Williams (2005) have already postulated, it is the quality of the fit between the psychosocial challenges caused by hATTR-PN, on the one hand, and the functioning and resources of the support contexts, on the other, that may determine successful versus dysfunctional coping and adaptation to the disease.
By the way, and according to the discourses of the young adults interviewed, the perceived support for their needs provided by social contexts influenced their own psychosocial experience with hATTR-PN. Specifically, different family communication dynamics seemed to affect the support perceived by certain participants to respond to a disease that is 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 the way in which 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 characteristic of this developmental period (Willoughby et al. 2022). Nevertheless, in a phase marked by active consideration of PST and, according to Willoughby et al. (2022), by increasing autonomy in the decision-making process, genetic counseling, as a psychoeducational support context, can help adjust the young adult population's awareness of hATTR-PN. In line with the discourses of the participants in this study, the psychoeducation provided throughout the PST process can, in fact, translate into a vital approach to mitigating possible maladaptive impacts associated with the test results. Thus, given that a central task of this phase of the process is to consider, on the one hand, the impact that the autonomous decision to carry out the PST can have on the various family members and, on the other hand, the family dynamics that can affect adjustment, it is up to genetic counseling professionals to guide families (and, particularly, young adult members) in this process by providing a psychosocial understanding of the disease in practical, emotional and longitudinal terms (Lopes, Sousa et al. 2018; Rolland 2012; Rolland and Williams 2005). Specifically, and following Rolland and Williams' (2005) postulate, genetic counseling professionals can not only help young adults at risk for hATTR-PN in communication processes, decision-making and the development of contingency plans associated with their developmental tasks (viz., those related to their love/reproductive and professional lives), but also help the members of these families to acquire a common understanding of the biopsychosocial aspects of the disease, facilitating family communication more focused on coping strategies and adaptation to genetic risk and hATTR-PN.
4.1 Strengths and limitations
The results reported in this study, which contribute to filling gaps in scientific evidence on the psychosocial experience with hATTR-PN in a population with unique developmental characteristics (Willoughby et al. 2022), should be carefully read and interpreted due to the presence of limitations inherent to research practice. Although, following the recommendations of Creswell and Creswell (2018) and Gibbs (2007), various validity and reliability procedures have been implemented in order 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, readers should bear this in mind when considering the transferability of these results to other populations, diseases, and contexts. Nevertheless, it should be borne in mind that 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 the data reported to the population of young Portuguese adults at genetic risk for hATTR-PN in general and in other countries.
4.2 Implications
This study has implications for the development of 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 these people in the context of genetic counseling. Secondly, strengthening the implementation of collaborative policies between local health services and associations of people with hATTR-PN can help to enhance the important work of these groups 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, namely 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 these individuals for the psychosocial challenges of the illness and preventing risks of maladaptation to PST results.