Center for Medical and Nursing Education, Mie University Faculty of Medicine, Tsu, Japan.
Department of Genomic Medicine, Mie University Hospital, Tsu, Japan.
J Genet Couns. 2023 Feb;32(1):128-139. doi: 10.1002/jgc4.1629. Epub 2022 Aug 25.
In Japan, clinical genetic services became available in the 1970s, and genomic medicine, including genetic counseling (GC), developed rapidly. However, research on the outcomes of GC in Japan is limited. Japan has a unique cultural context, and appropriate GC methods have not yet been optimized for this population. The current study aimed to evaluate the psychological status of Japanese patients and their companions undergoing GC and the outcomes of GC. We used the Quality of Care Through the Patients' Eyes-gene cancer (QUOTE-gene ), the Genetic Counseling Outcome Scale-24 (GCOS-24), and the State-Trait Anxiety Inventory (STAI) to evaluate patients and their companions' needs and preferences regarding GC, empowerment, and anxiety, respectively. We evaluated stress status during GC by measuring saliva cortisol levels. QUOTE-gene results for patients (n = 69) and a group of patients and their companions (n = 96) revealed that participants felt that it was important that skilled medical staff explained medical information and provided advice in an easily understandable manner. Japanese patients and their companions regarded the procedural aspects of counseling as most important and their autonomy in decision-making as less important. GCOS-24 results revealed a significant increase in empowerment scores in 38 patients (by 9.63 points) from pre- to post-GC (p < 0.001; Cohen's d = 0.79). STAI results revealed a significant decrease in state anxiety for patients (6.11 points; p < 0.001; Cohen's d = 0.66). Cortisol levels in patients significantly decreased after GC (p = 0.001). The improvement of empowerment scores from pre- to post-GC among patients and their companions were significantly negatively correlated with pre-GC empowerment scores (p < 0.001), trait anxiety scores (p = 0.001), and the number of people living together (p = 0.011). The change of cortisol levels during GC in patients and their companions was significantly positively correlated with trait anxiety score (p = 0.027). This study suggested that these characteristics of Japanese patients and their companions may predict GC outcomes.
在日本，临床遗传服务始于 20 世纪 70 年代，包括遗传咨询（GC）在内的基因组医学迅速发展。然而，关于日本 GC 结果的研究有限。日本具有独特的文化背景，针对该人群的适当 GC 方法尚未得到优化。本研究旨在评估日本患者及其家属在 GC 期间的心理状态以及 GC 的结果。我们使用通过患者视角评估的护理质量-基因癌症（QUOTE-gene）、遗传咨询结果量表-24（GCOS-24）和状态-特质焦虑量表（STAI）分别评估患者及其家属对 GC、赋权和焦虑的需求和偏好。我们通过测量唾液皮质醇水平来评估 GC 期间的压力状态。对 69 名患者（n=69）和一组患者及其家属（n=96）的 QUOTE-gene 结果表明，参与者认为熟练的医务人员以易于理解的方式解释医疗信息和提供建议很重要。日本患者及其家属认为咨询的程序方面最重要，而他们在决策中的自主权则不太重要。GCOS-24 的结果显示，38 名患者（增加 9.63 分）在 GC 前后的赋权评分显著增加（p<0.001；Cohen's d=0.79）。STAI 的结果显示，患者的状态焦虑显著降低（6.11 分；p<0.001；Cohen's d=0.66）。GC 后患者的皮质醇水平显著降低（p=0.001）。患者及其家属的 GC 前后赋权评分的改善与 GC 前的赋权评分（p<0.001）、特质焦虑评分（p=0.001）和共同居住人数（p=0.011）显著负相关。GC 期间患者及其家属的皮质醇水平变化与特质焦虑评分显著正相关（p=0.027）。本研究表明，日本患者及其家属的这些特征可能预测 GC 的结果。
