Barbosa Maria, Paneque Milena, Fontoura Dias Sofia, Júlio Filipa, Sequeiros Jorge, Sousa Liliana, Clarke Angus, Metcalfe Alison, Sales Célia M D, Mendes Álvaro
i3S - Instituto de Investigação e Inovação Em Saúde, University of Porto, Porto, Portugal.
CGPP - The Centre for Predictive and Preventive Genetics, IBMC - Institute for Molecular and Cell Biology, University of Porto, Porto, Portugal.
J Genet Couns. 2025 Aug;34(4):e70067. doi: 10.1002/jgc4.70067.
Process studies explore the content and dynamics established during genetic counseling (GC), allowing a greater understanding of what happens. No literature review has specifically examined how family communication of genetic information has been addressed in GC process studies. To fill this gap, a scoping review was conducted. Scopus, Web of Science, PubMed, and PsycInfo were searched, resulting in 21 articles for analysis. Most studies were retrospective (n = 19) and qualitative (n = 15) and involved hereditary cancer syndromes (n = 13). Studies analyzed how family communication of genetic information is addressed in GC by either focusing on patients' experiences and perspectives, or genetic healthcare professionals' (GHP) roles and scope of practice. All studies reported that GHP address family communication with patients, but their practices were heterogeneous and influenced by contextual factors. Practices to address family communication included providing guidance to inform the family (n = 19), materials to support communication (n = 16), psychosocial assessment (n = 11), and additional support (n = 18). Our findings suggest that the approach to family communication in GC draws on both teaching and counseling models, although with greater emphasis on the former. This is consistent with integrated models of GC. Future prospective process studies using observational data could enhance our understanding of patient-professional interactions and their influence on patient decision-making regarding family communication of genetic information.
过程研究探讨了遗传咨询（GC）过程中所建立的内容和动态变化，有助于更深入地了解实际发生的情况。尚无文献综述专门研究遗传咨询过程研究中是如何处理遗传信息的家庭沟通问题的。为填补这一空白，我们进行了一项范围综述。检索了Scopus、Web of Science、PubMed和PsycInfo数据库，共筛选出21篇文章进行分析。大多数研究为回顾性研究（n = 19）且为定性研究（n = 15），涉及遗传性癌症综合征（n = 13）。这些研究通过关注患者的经历和观点，或遗传医疗专业人员（GHP）的角色及实践范围，来分析遗传咨询中是如何处理遗传信息的家庭沟通问题的。所有研究均报告称，遗传医疗专业人员会与患者讨论家庭沟通问题，但其做法各异，并受背景因素影响。处理家庭沟通的做法包括提供指导以告知家人（n = 19）、提供支持沟通的材料（n = 16）、进行心理社会评估（n = 11）以及提供额外支持（n = 18）。我们的研究结果表明，遗传咨询中处理家庭沟通的方法借鉴了教学和咨询模式，不过更侧重于前者。这与遗传咨询的综合模式相一致。未来使用观察性数据进行的前瞻性过程研究，可能会增进我们对医患互动及其对患者关于遗传信息家庭沟通决策影响的理解。
