罕見疾病基因檢測前心理衡鑑與諮商的分析

Analysis of Psychological Assessment and Counseling before Genetic Testing for Rare Diseases

本研究旨在透過接受基因檢測前心理衡鑑與諮商（下稱衡鑑／諮商）之個案描繪，探討要求進行基因檢測者的個人背景及其心理壓力狀態，並進一步評估現行流程是否有助於降低基因檢測風險、提升個案福祉。本研究採回溯性病歷設計，以台灣北部某醫學中心基因醫學部門診，接受基因檢測前衡鑑／諮商之個案為研究對象，透過描述性統計分析其個人特徵與基因檢測結果，並整理出相關個人經驗與心理諮商重點。自2013到2024共12年期間，共有49位個案接受基因檢測前之心理衡鑑／諮商，有75%個案要求進行的是晚發性單基因遺傳疾病基因檢測。這些個案接受心理衡鑑／諮商的總次數中位數為2次（範圍1-6次）。共有42位完成基因檢測，後續並未出現明顯可辨識的適應困難，7位（14.3%）心理衡鑑／諮商後暫緩或不做檢測。雖然程序上建議完成心理衡鑑／諮商後再進行抽血基因檢測，但有約40%個案同時安排這兩個步驟。諮商內容顯示，在不同生命階段與關係脈絡中，個案對基因檢測會呈現出不同類型的心理社會壓力模式，主要集中於揭露、決策、關係承諾與家族責任等議題，需要透過個別化評估與個人化支持加以因應。經過基因檢測前之心理衡鑑與諮商的個案，在本研究中未發現在結果揭露後出現顯著的適應困難，但所觀察到的心理社會壓力反應，凸顯了提供整合生命階段與關係脈絡之個人化支持的重要性，得以強化個案的準備度與心理韌性。基因檢測前的心理衡鑑與諮商具有保護性功能，有助於降低心理社會風險並促進個人福祉。未來研究可進一步針對兒童、青少年及孕婦族群深入探討相關議題，以更妥善回應其獨特的心理社會需求。

This study evaluates the personal backgrounds and psychosocial stress profiles of individuals requesting genetic testing based on findings from pre-test psychological assessment and counseling, and evaluates whether the current procedural effectively mitigates testing-related risks and enhances patient well-being. A retrospective chart review was conducted on patients who received pre-test psychological assessment and counseling at the Department of Genetic Medicine in a medical center in northern Taiwan. Descriptive statistical analyses were used to evaluate demographic characteristics and genetic testing outcomes. Associated personal experiences and psychosocial considerations were summarized. Between 2013 and 2024, 49 cases underwent psychological assessment and counseling prior to genetic testing were identified, 75% of them which involved requests for testing related to late-onset diseases. The median number for psychological assessment and counseling sessions was 2 (range 1-6). Of these, 42 cases proceed genetic tests and none experienced adaptive problems following disclosure of results. Seven (14.3%) individuals postponed or declined testing after counseling. Approximately 40% of individuals proceeded with blood drawing and counseling arrangements in parallel, although blood drawing is recommended after the completion of pre-test counseling. Distinct psychosocial stress patterns emerged across life stages and relationship contexts, clustering around disclosure, decision-making, relational commitment, and family responsibility, and necessitating individualized assessment and tailored support. Although no significant post-disclosure adaptation difficulties were identified, the psychosocial stress patterns observed underscore the need for personalized support integrating life-stage and relational contexts to strengthen preparedness and resilience. Pre-test psychological assessment and counseling play a protective role in mitigating psychosocial risk and promoting well-being. Future research should further explore these issues in children, adolescents, and pregnant women to better address their distinct psychosocial needs.