Makri Marina, Palasidou Anthoula, Moraitou Despoina, Tegos Thomas, Fidani Liana, Tsolaki Magdalini
1st Department of Neurology, Faculty of Health Sciences, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Greek Association of Alzheimer Disease and Related Disorders, Thessaloniki, Greece.
J Genet Couns. 2025 Jun;34(3):e70068. doi: 10.1002/jgc4.70068.
The demand for genetic testing and counseling services continues to grow as there is a utility to guide diagnosis and treatment for a range of genetic conditions. Genetic counseling (GC) is a medical practice that provides information and counseling to patients and relatives at risk of recurrence of a genetic disease and helps them understand and adapt to the medical, psychological, and familial implications of the genetic information of the disease. Health professionals working in this field need reliable measurement tools to evaluate the results of their interventions, intending to ensure quality service improvements and planning successful disease management strategies. The Genetic Counseling Outcome Scale (GCOS-24) is a brief self-reported questionnaire of 24 questions administered to assess GC interventions and the outcomes of the use of these services in patients and caregivers of individuals with genetic diseases. It has been translated and validated in many languages, but not in the Greek language, despite the increased need for GC services in Greece. Thus, the questionnaire was translated into Modern Greek, and the reverse translation method was followed. 257 people participated in the research (63.6% women, 67.8% between 20 and 40 years, 45.9% University education of a high educational level). The construct validity of the questionnaire was examined through exploratory factor analysis and internal consistency through Cronbach's alpha. A significant difference in GCOS from the original scale is the fewer items-19 as opposed to 24. Greek GCOS is constructed of a two-factor structure and is a reliable tool (α = 0.79) for assessing patient empowerment in GC. With empowerment serving as an end measure, as it is focused on patient-centered care, this study adds to the international validation process of the GCOS-24 with the eventual objective of utilizing this instrument as a PROM to assess and enhance the services of GC in diverse clinical genetics settings.
由于基因检测和咨询服务对于一系列遗传疾病的诊断和治疗具有指导作用，其需求持续增长。遗传咨询（GC）是一种医疗实践，为有遗传疾病复发风险的患者及其亲属提供信息和咨询，并帮助他们理解和适应该疾病遗传信息所带来的医学、心理和家庭影响。从事该领域工作的健康专业人员需要可靠的测量工具来评估其干预效果，以确保服务质量的提升并制定成功的疾病管理策略。遗传咨询结果量表（GCOS - 24）是一份包含24个问题的简短自评问卷，用于评估遗传咨询干预措施以及这些服务在遗传疾病患者及其照顾者中的使用结果。它已被翻译成多种语言并经过验证，但在希腊语中尚未如此，尽管希腊对遗传咨询服务的需求在增加。因此，该问卷被翻译成现代希腊语，并采用了回译法。257人参与了这项研究（63.6%为女性，67.8%年龄在20至40岁之间，45.9%具有高等教育水平的大学学历）。通过探索性因子分析检验问卷的结构效度，并通过克朗巴哈系数检验内部一致性。与原始量表相比，希腊版GCOS的一个显著差异是项目数量减少——从24项减至19项。希腊版GCOS由两因素结构构成，是评估遗传咨询中患者赋权的可靠工具（α = 0.79）。由于赋权作为最终衡量标准，聚焦于以患者为中心的护理，本研究为GCOS - 24的国际验证过程增添了内容，最终目标是将该工具用作患者报告结局量表（PROM），以评估和改善不同临床遗传学环境中的遗传咨询服务。
