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This study is the first to explore the psychosocial experience of young Portuguese adults at genetic risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy (hATTR-PN). The work focuses on the developmental peculiarities of their experience with the disease. Sixteen semi-structured interviews were conducted with young adults coming for pre-symptomatic testing (PST) at a single genetics outpatient center in Portugal. The data were analyzed qualitatively. 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. In a period of life also marked by qualitatively different characteristics and developmental tasks from other life cycle stages (e.g., identity explorations, instability, and independent decision-making), experience with the disease can add psychosocial challenges to young adults at risk for hATTR-PN. Genetic counseling practices and health policies can be optimized to respond to the psychosocial needs of young adults. Future research should deepen the understanding of the psychosocial experience of individuals and families with late-onset hATTR-PN to improve the clinical response in this population. [ABSTRACT FROM AUTHOR]

In the last decades, genetics has experienced significant technological advancements worldwide. However, in Portugal, serious limitations persist, compromising the functioning of healthcare in medical genetics. This study aimed to promote sharing and discussion among genetic medical professionals, to outline concrete actions to address gaps in clinical practice. Three focus groups were conducted with 19 specialists in medical genetics. The data were analyzed using the thematic analysis method to extract the main themes from the discussions. From the analysis, four conceptual themes emerged: (i) framing Portuguese genetic services in light of the European context; (ii) improvement of medical genetics education and population literacy; (iii) transforming of medical genetics services; and (iv) operationalizing the change. The results demonstrated that increasing training resources and strengthening multiprofessional teams by hiring more genetic professionals, such as clinical geneticists, molecular geneticists, and other genetic specialists, is crucial to enhancing the responsiveness of genetic services. Integrating medical genetics into all specialties and primary care, as well as updating the national network of medical genetics, are critical points for increasing equity and enabling healthcare to be provided more fairly. Including other medical genetics professionals such as genetic counsellors, nurses and psychologists also plays a significant role in providing comprehensive and quality care. This collaborative approach aims to provide effective genetic assistance and enhance the adequacy of genetic healthcare. The findings are compiled as recommendations to support the profession moving forward that can be applied to other healthcare contexts worldwide. [ABSTRACT FROM AUTHOR]

In recent decades, genetics has undergone important technological advances. The rapid shift to genomics has made a strong impact on health systems around the world. In Portugal, this huge increase in consultations and typologies of genetic tests has joined the serious limitations of the few existing genetics services. The following study aims to characterize the current state of the network of genetics services in Portugal regarding its functioning, main challenges, and opportunities. Five semi-structured interviews were conducted, corresponding to 83.33% of the directors of the public genetics services of the National Health Service. Four thematic categories emerged from the analysis: (1) specialty and technical developments, (2) structural difficulties, (3) potentialities, and (4) future directions. The developments are due to the emergence of more comprehensive genetic applications, specific protocols and patient referral standards, and accreditation of services. The main difficulties encountered in the functioning of the services were difficulty in obtaining funding, lack of human resources, service overload, and lack of exclusive time for training and research. The potentialities mentioned were the establishment of multidisciplinary teams and the best articulation with specialists from other areas. Among the various future directions pointed out, better management of patients' waiting lists, the importance of research, the simplification of test request procedures, and the creation of specialized units inside the genetic services, were reported. The results showed several gaps in the practice of medical genetics that should be addressed with the development of public policies for the recognition and restructuring of medical genetics in health care. [ABSTRACT FROM AUTHOR]

The already increasing use of telemedicine in the last few years has risen significantly after the onset of the COVID-19 pandemic. With a fast implementation, it is important to understand the experience of genetic counselling patients using telehealth. To this end, we developed a study to understand the impact of the pandemic on genetics consultations, using a mixed-method approach through a questionnaire to collect the patients' opinions. The largest group included in the study was 26–45 years old (65%), and 33.6% had completed year 12 of secondary education. Due to the impact of the pandemic, we observed an increase of 84.5% in teleconsultations. The participants' satisfaction was quite significant, 67.3% felt comfortable discussing personal and family health, 53.6% were well-enlightened, and 59.1% did not find it difficult to build a doctor-patient relationship. However, 64.5% of our participants indicated using the service only for subsequent consultations but supported the idea of continuing with telemedicine in the future. Undoubtedly, this service is essential for better quality and healthcare support. The professionals involved must be increasingly trained to provide adequate genetic counselling and comfort to the patient. Training automatically influences the improvement of the service regarding the barriers encountered and consequently provides a better experience and satisfaction to the patient and their families. [ABSTRACT FROM AUTHOR]

Genetic diseases are a family matter, requiring adjustment and management from the family system, particularly when the diagnosis is recent. Literature has evidenced the importance of the role of older relatives in families dealing with some genetic diseases; however, knowledge is scarce regarding rare incurable genetic disorders, such as Huntington disease. Therefore, this exploratory qualitative study aims at describing how adjustment to Huntington disease occurs, from a family perspective, considering the roles performed by older generations, in the Portuguese context. It adopts the critical incidents technique, administered based on semi-structured interviews, and comprises 10 participants, aged 28 to 72 years (8 females), from seven families. Participants reported 130 critical incidents. The interviews were audiotaped, transcribed, and submitted to thematic analysis. Findings portray participants and their families as "beginners" in understanding and incorporating Huntington disease in their lives, due to recent diagnosis. In addition, data suggest that older relatives play two relevant roles in the creation of family narratives: (1) "shaping awareness about HD" (68 critical incidents) and (2) "influencing HD management" (62 critical incidents). Genetic counseling and family-centered interventions aimed at supporting families with a history of hereditary genetic diseases, should consider a narrative approach involving older relatives, since they have a great influence in sustaining family stories. [ABSTRACT FROM AUTHOR]

Cuba reports the highest worldwide prevalence of spinocerebellar ataxia type 2 (SCA2) and the greatest number of descendants at risk. A protocol for genetic counseling, presymptomatic testing, and prenatal diagnosis of hereditary ataxias has been under development since 2001. Considering that the revision of the experience with prenatal diagnosis for SCA2 in Cuba would enable comparison of ours with international findings, we designed a descriptive study, based on the retrospective revision of the medical records belonging to the 58 couples that requested their inclusion in the program, during an 11-year period (2001-2011). Most of the participants in the prenatal diagnosis program were known presymptomatic carriers, diagnosed through the presymptomatic testing in the same period of study, for an uptake among them of 22.87 % (51 out of 223). In 28 cases, the fetuses were carriers, 20 of these couples (71.43 %) decided to terminate the pregnancy; the rest continued the pregnancy to term, this resulting in a predictive test for their unborn children. A predominance of females as the at-risk progenitor was observed. Except for a slightly lower average age, the results attained in the Cuban SCA2 prenatal diagnosis program resulted similar to the ones reported for Huntington disease in other countries. It is necessary to have easy access to the Cuban program through its expansion to other genetic centers along the island. Future research is needed to evaluate the long-term impact of both the predictive testing in unborn children and the selection of other reproductive options by the at-risk couples. [ABSTRACT FROM AUTHOR]