Claudine M Kraan, Amanda Springer, Janet C Long, Jeffrey Braithwaite, Belinda Dawson-McClaren, Alison D Archibald
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引用次数: 0
摘要
生殖遗传载体筛查(RGCS)在一些司法管辖区日益普及并得到公共资助。迫切需要以用户为中心的资源来支持决策。我们使用乔安娜布里格斯研究所的框架进行了范围审查,目的是绘制2014年至2025年间发表的研究图,以检查个体和生殖伴侣对RGCS的看法。在Medline, Embase, PubMed和Web of Science中进行了搜索。研究按设计和描述特征进行分类。纳入了89项研究。研究记录了接受或拒绝RGCS的动机以及与决策相关的系统、结构和个人因素的相互作用。教育需求调查强调超越临床框架,反映经验知识。在服务实现路径中确定了多个接触点,揭示了适合目的的资源集成的机会;那些对遗传条件有经验的人的观点增加了独特的见解。然而,人口多样性较低,来自农村、区域和/或偏远地区、不同家庭结构、智力残疾者或神经多样性以及文化和语言多样化社区的研究有限。本文综述了RGCS的个体和生殖夫妇的观点,并提出了六项资源开发的专家建议。一项关键的行动呼吁是让重点人群参与未来的研究,以避免加深卫生不公平现象。
Scoping review and recommendations for development and delivery of education resources for reproductive genetic carrier screening.
Reproductive genetic carrier screening (RGCS) is increasingly available and publicly funded in some jurisdictions. There is a pressing need for user-centric resources to support decision-making. We conducted a scoping review using the Joanna Briggs Institute framework with the aim of mapping studies published between 2014 and 2025 examining individual and reproductive couple perspectives on RGCS. Searches were conducted in Medline, Embase, PubMed and Web of Science. Studies were categorised by design and descriptive characteristics. Eighty-nine studies were included. Research documented motivations for accepting or declining RGCS and the interplay of systemic, structural and personal factors related to decision-making. Investigation of educational needs emphasized moving beyond clinical framing to reflect experiential knowledge. Multiple touchpoints were identified across the service implementation pathway, revealing opportunities for fit-for-purpose resource integration; and perspectives from those with experiential knowledge of genetic conditions added unique insights. However, population diversity was low, with limited research from rural, regional and/or remote locations, diverse family structures, people with intellectual disability or neurodiversity and cultural and linguistically diverse communities. This review maps individual and reproductive couple perspectives on RGCS and offers six expert recommendations for resource development. A key call to action is to engage priority populations in future RGCS research to avoid deepening health inequities.
期刊介绍:
The European Journal of Human Genetics is the official journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports and reviews in the rapidly expanding field of human genetics and genomics. It covers molecular, clinical and cytogenetics, interfacing between advanced biomedical research and the clinician, and bridging the great diversity of facilities, resources and viewpoints in the genetics community.
Key areas include:
-Monogenic and multifactorial disorders
-Development and malformation
-Hereditary cancer
-Medical Genomics
-Gene mapping and functional studies
-Genotype-phenotype correlations
-Genetic variation and genome diversity
-Statistical and computational genetics
-Bioinformatics
-Advances in diagnostics
-Therapy and prevention
-Animal models
-Genetic services
-Community genetics