Health-related roles of older generations in families with inherited genetic conditions: a scoping review.

Inherited genetic conditions are family diseases. They affect consanguineous relatives, in lineage for several generations, and impact the family dynamics. Older generations have been considered highly influential in the health management of families with inherited genetic conditions. To our knowledge, no reviews so far addressed the health-related roles of older generations in these families. This scoping review aims to fill that gap by mapping the existent research about the health-roles roles performed by the older generations in families living with autosomal dominant inherited genetic conditions. Four electronic databases were searched: Scopus, Web of Science, PubMed, PsycInfo. Eleven studies were included, and relevant findings were extracted. Main roles included: informers vs. blockers of disease-related information; encouragers vs. discouragers of health screening or genetic testing; (non-)supporters; and role models in living and coping with the disease. The roles played by older generations are relevant to the health management of other family members and can be beneficial to themselves (reciprocal interactions). Acknowledging and understanding these roles is important for professionals and health-services. Results suggest the relevance of an intergenerational perspective when working with families with inherited genetic conditions.

From older to younger generations: Intergenerational transmission of health-related roles in families with Huntington's disease.

BACKGROUND AND OBJECTIVES: Older generations play relevant roles in the well-being of younger generations, namely by influencing their health management. Literature regarding the influence in families affected by highly incapacitating hereditary diseases, such as Huntington's disease (HD), however, is scarce. This study addresses the intergenerational flow of health-related roles, from older to younger generations in families with HD, that is, who plays what roles towards whom while considering age, gender, kinship and genetic status in both generations. RESEARCH DESIGN AND METHODS: This qualitative exploratory study adopted the critical incidents technique, applied through semi-structured interviews. Ten participants reported 189 critical incidents. Thematic analysis was applied to transcript data from the interviews to glean common themes. RESULTS: The main findings suggested two main roles performed by older generations: "shaping awareness" and "influencing management". The intergenerational flow involved mainly women, in contiguous generations (usually mother-to-daughter); it was more frequent from either older non-biological or affected relatives aged ≥60 years towards younger members aged 20-29 years, who were still at-risk or non-carriers. DISCUSSION AND IMPLICATIONS: Older generations are relevant influencers in the health management of their younger relatives and they create illness-related legacies. The results are relevant for healthcare services and professionals, as they bring further insight into how older relatives may be involved in genetic counselling, as well as insight into the provision of psychological support to affected families.

Role of older generations in the family's adjustment to Huntington disease.

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.

Management of information within Portuguese families with Huntington disease: a transgenerational process for putting the puzzle together.

Huntington disease (HD) is a rare progressive neurological disease, with no cure, inherited in an autosomal dominant fashion, significantly impacting family relations, health and well-being. So far, no studies have reported how Portuguese families deal with information about HD, from a transgenerational perspective. This qualitative study aims to fill in that gap, and focuses on how families acquire knowledge about HD and management of information within the family and in their social relationships. The study adopted semi-structured interviews with 10 participants from HD families. Interviews were transcribed and analysed thematically. Findings suggested that management of information in the family started with the search for a diagnosis in an affected family member. Diagnosis led to a process of "making sense of HD in the family", which activated a transgenerational process to understand HD in the family context, marked by improved awareness and different ways family members manage it (closedness and openness). These results should be relevant for health-care professionals, bringing further insight into the process of acquiring knowledge about HD, and highlighting the relevance of continued efforts for enhanced pre- and post-test counselling and ongoing support to the HD families.

From older to younger: intergenerational promotion of health behaviours in Portuguese families affected by familial amyloid polyneuropathy.

The role of older generations in families with hereditary diseases has been recognised and associated to their function as guardians of the family's medical history. However, research is scarce in examining the roles that older generations play in terms of health promotion and risk management towards younger generations, which is particularly evident with incurable genetically inherited disorders such as familial amyloid polyneuropathy (FAP) ATTR Val30Met. This qualitative exploratory study examines the roles that older generations play towards younger generations, in terms of health promotion and risk management, in families with FAP. It also explores the intergenerational flow by analysing who from the older generation plays what role(s) towards whom from the younger generation. This study adopts the critical incidents technique. The sample comprises 18 participants that reported 76 critical incidents. The interviews were audio-taped and submitted for content analysis with the main findings suggesting four roles performed by the older family members towards the younger ones: modelling, encouraging, informing and supporting. The intergenerational flow takes place mostly between women, from mother to daughter, and from older affected individuals to young pre-symptomatic carriers. The older generations can be involved in the clinical practice as partners in supporting younger relatives in families with FAP. Clinical genetic services and the health-care system more broadly might want to consider these roles and the intergenerational flow of support so that this information can be used to maximise health promotion behaviours in at-risk families.

[Health promotion in families with paramyloidosis: the role of elders with younger family members]. / Promoção da saúde em famílias com paramiloidose: papéis dos mais velhos junto dos mais novos.

Citizens are now partners in the formal health promotion system. In the management of hereditary diseases, the role of family members is a vital source of support. Elders play a crucial role due to their long relationship with the disease and with patients in the family. However, this role has still been insufficiently explored, particularly in genetic disorders like paramyloidosis. This exploratory qualitative study analyzes the role of elders in families with paramyloidosis, in health promotion for younger members. The critical incidents technique was applied using a semi-structured interview. The study involved 18 participants who reported 76 critical incidents. The interviews were taped and submitted to content analysis. The principal results suggest the following roles for elders with younger family members: act as role models (in behaviors), encourage, inform, and support. The older generations can be mobilized by health professionals as partners to support younger generations in families with paramyloidosis.

Promoção da saúde em famílias com paramiloidose: papéis dos mais velhos junto dos mais novos / Health promotion in families with paramyloidosis: the role of elders with younger family members / Promoción de la salud en familias con paramiloidosis: papeles de los más viejos junto a los más jóvenes

Resumo: Atualmente os cidadãos são parceiros dos sistemas formais na promoção da saúde. Na gestão das doenças hereditárias, o papel dos familiares como fonte de suporte é vital. O papel dos mais velhos emerge como crucial pela longa relação com a doença e com os doentes na família. Contudo, esse papel permanece pouco explorado, em particular, em doenças genéticas, como a paramiloidose. Este estudo qualitativo exploratório analisa o papel dos mais velhos, em famílias com paramiloidose, na promoção da saúde dos mais novos. Adotou-se a técnica dos incidentes críticos, aplicada por entrevista semiestruturada. O estudo envolve 18 participantes que relataram 76 incidentes críticos. As entrevistas foram gravadas e submetidas a análise de conteúdo. Os principais resultados sugerem os seguintes papéis dos mais velhos junto dos mais novos: modelar (comportamentos), encorajar, informar e apoiar. As gerações mais velhas podem ser envolvidas pelos profissionais de saúde como parceiras no apoio aos mais novos em famílias com paramiloidose.

Abstract: Citizens are now partners in the formal health promotion system. In the management of hereditary diseases, the role of family members is a vital source of support. Elders play a crucial role due to their long relationship with the disease and with patients in the family. However, this role has still been insufficiently explored, particularly in genetic disorders like paramyloidosis. This exploratory qualitative study analyzes the role of elders in families with paramyloidosis, in health promotion for younger members. The critical incidents technique was applied using a semi-structured interview. The study involved 18 participants who reported 76 critical incidents. The interviews were taped and submitted to content analysis. The principal results suggest the following roles for elders with younger family members: act as role models (in behaviors), encourage, inform, and support. The older generations can be mobilized by health professionals as partners to support younger generations in families with paramyloidosis.

Resumen: Actualmente, los ciudadanos son agentes activos en los sistemas formales en la promoción de la salud. En la gestión de las enfermedades hereditarias, el papel de los familiares como fuente de apoyo es vital. El papel de los más viejos emerge como crucial por la larga relación con la enfermedad y con los enfermos en la familia. No obstante, este papel permanece poco explorado, en particular, en enfermedades genéticas, como la paramiloidosis. Este estudio cualitativo exploratorio analiza el papel de los más viejos, en familias con paramiloidosis, en la promoción de la salud de los más jóvenes. Se adoptó la técnica de los incidentes críticos, aplicada por entrevista semiestructurada. El estudio involucró a 18 participantes que relataron 76 incidentes críticos. Las entrevistas fueron grabadas y sometidas a un análisis de contenido. Los principales resultados sugieren los siguientes papeles de los más viejos, junto a los más jóvenes: modelar (comportamientos), animar, informar y apoyar. Las generaciones más viejas pueden estar involucradas por los profesionales de salud como agentes activos en el apoyo a los más jóvenes en familias con paramiloidosis.