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引用次数: 0
摘要
遗传性疾病是家族性疾病。它们会影响到几代同堂的近亲,并影响到家庭的活力。老一辈人被认为对遗传性疾病家庭的健康管理有很大影响。据我们所知,迄今为止还没有任何综述涉及老一辈人在这些家庭中与健康相关的作用。本综述旨在通过对常染色体显性遗传疾病家庭中老一辈人在健康方面所扮演角色的现有研究进行梳理,从而填补这一空白。我们检索了四个电子数据库:Scopus、Web of Science、PubMed 和 PsycInfo。共纳入 11 项研究,并提取了相关结果。主要角色包括:疾病相关信息的告知者与阻止者;健康筛查或基因检测的鼓励者与阻止者;(非)支持者;以及生活和应对疾病的榜样。老一辈所扮演的角色与其他家庭成员的健康管理息息相关,对他们自己也有好处(互惠互动)。承认和理解这些角色对于专业人员和医疗服务机构来说非常重要。研究结果表明,在与患有遗传性疾病的家庭合作时,代际观点非常重要。
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.
期刊介绍:
The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals.
Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues.
The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries.
The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.