探討父母對新生兒參與全外顯子定序分析診斷可治療罕見疾病應用之決策、認知及態度

Abstract

背景: 隨著次世代定序技術的發展，全外顯子定序(Whole Exome Sequencing, WES)逐漸被納入臨床應用，成為輔助新生兒疾病診斷的重要工具。新生兒基因定序檢測有助於早期發現可治療的疾病，提供家庭健康相關資訊，但也伴隨不確定性、大量資訊暴露、心理層面影響及基因歧視等問題。因此，本研究旨在探討新生兒父母對WES應用於新生兒臨床篩檢的決策、認知及態度。 方法: 本研究採世代研究(cohort study)設計，以臺大醫院三個月內接受WES檢測之新生兒父母為對象，以線上結構式問卷進行，並於五個不同時間點進行，分別為父母不同意WES檢測當下、遺傳諮詢介入前與後問卷、父母同意WES檢測當下問卷及WES檢測結果釋出後問卷，分別收集其認知行為及態度，並使用比較性統計及描述性統計進行分析 結果:本研究向70位新生兒父母說明新生兒WES檢測同意書內容，23人(32.9%)選擇不同意接受檢測，47位新生兒父母有意願並完成遺傳諮詢前問卷；經遺傳諮詢後，47位父母(61.7%)同意參與檢測並完成47份諮詢後問卷及同意檢測問卷；另回收32份結果釋出後問卷。結果顯示，遺傳諮詢顯著提升父母對檢測的認知(p<0.001)；檢測決策受子女健康評估、自費金額、保險制度與資訊掌握程度影響。多數父母對檢測抱持正向情緒與支持態度，盼納入國家政策並落實書面同意流程。部分父母對費用與保險存有疑慮，且於等待結果期間感到焦慮。大多數父母對遺傳諮詢滿意度高，顯示專業遺傳諮詢為影響檢測決策的重要因素。 結論: 遺傳諮詢對於父母在新生兒基因定序檢測理解扮演關鍵角色。同時，也應重視父母於等待檢測結果期間的焦慮情緒，以及對檢測費用負擔及保險給付條件的擔憂。這些研究發現，在未來新生兒基因檢測廣泛運用前，評估父母接受度與潛在顧慮提供了重要參考。

Background: With the advancement of next-generation sequencing technologies, Whole Exome Sequencing (WES) has been increasingly integrated into clinical practice, serving as an important tool to support the diagnosis of neonatal diseases. Genomic sequencing for newborns enables the early identification of treatable conditions and provides families with valuable health-related information. However, the implementation of such testing also brings challenges, including uncertainty, information overload, psychological impacts, and concerns about genetic discrimination. Therefore, this study aims to investigate parents’ knowledge, behaviors, and attitudes toward the clinical application of WES in newborn screening

Method: This study adopted a cohort study design and targeted parents of newborns who underwent Whole Exome Sequencing (WES) within three months at National Taiwan University Hospital.Data were collected through an online structured questionnaire administered at five different time points: at the time parents declined WES, before genetic counseling, after gentic counseling, at the time parent consented to WES, and after the disclosure of WES result. Parental knowledge, attitudes, and behavioral perspectives were gathered at each stage and analyzed using both comparative and descriptive statistical methods. Results: A total of 70 parents of newborns were provided with information about the content of WES informed consent. Among them, 23 parents (32.9%) declined testing, while 47 expressed interest and completed the pre-counseling questionnaire. After genetic counseling, 47 parents (61.7%) consented to WES and completed the post-counseling and consent questionnaires. Additionally, 32 parents completed the follow-up questionnaire after receiving the results. The findings revealed that genetic counseling significantly enhanced parents’ understanding of WES (p < 0.001). Testing decisions were influenced by factors such as perceived child health status, out-of-pocket cost, insurance concerns, and the level of information comprehension. Most parents held positive emotions and attitudes toward WES, supported its inclusion in national health policy, and emphasized the importance of written informed consent. However, some parents expressed anxiety while awaiting results and had lingering concerns about cost and insurance implications. The overall high satisfaction with genetic counseling highlights its critical role in facilitating informed parental decision-making. Conclusion: Genetic counseling plays a critical role in enhancing parents’ understanding of newborn genomic sequencing. At the same time, it is important to address the anxiety parents may experience while waiting for test results, as well as their concerns regarding the financial burden of testing and potential insurance coverage limitations. These findings offer valuable insights for evaluating parental acceptance and potential concerns prior to the broader implementation of newborn genomic testing in the future.