Abstract：
OBJECTIVE: Exome sequencing (ES) and genome sequencing (GS) are diagnostic tests for rare genetic diseases. Studies report clinical utility of ES/GS. The goal of this systematic review is to establish how clinical utility is defined and measured in studies evaluating the impacts of ES/GS results for pediatric patients.
METHODS: Relevant articles were identified in PubMed, Medline, Embase, and Web of Science. Eligible studies assessed clinical utility of ES/GS for pediatric patients published before 2021. Other relevant articles were added based on articles\' references. Articles were coded to assess definitions and measures of clinical utility.
RESULTS: Of 1346 articles, 83 articles met eligibility criteria. Clinical utility was not clearly defined in 19% of studies and 92% did not use an explicit measure of clinical utility. When present, definitions of clinical utility diverged from recommended definitions and varied greatly, from narrow (diagnostic yield of ES/GS) to broad (including decisions about withdrawal of care/palliative care and/or impacts on other family members).
CONCLUSIONS: Clinical utility is used to guide policy and practice decisions about test use. The lack of a standard definition of clinical utility of ES/GS may lead to under- or overestimations of clinical utility, complicating policymaking and raising ethical issues.
METHODS: Relevant articles were identified in PubMed, Medline, Embase, and Web of Science. Eligible studies assessed clinical utility of ES/GS for pediatric patients published before 2021. Other relevant articles were added based on articles\' references. Articles were coded to assess definitions and measures of clinical utility.
RESULTS: Of 1346 articles, 83 articles met eligibility criteria. Clinical utility was not clearly defined in 19% of studies and 92% did not use an explicit measure of clinical utility. When present, definitions of clinical utility diverged from recommended definitions and varied greatly, from narrow (diagnostic yield of ES/GS) to broad (including decisions about withdrawal of care/palliative care and/or impacts on other family members).
CONCLUSIONS: Clinical utility is used to guide policy and practice decisions about test use. The lack of a standard definition of clinical utility of ES/GS may lead to under- or overestimations of clinical utility, complicating policymaking and raising ethical issues.
摘要：
目的：外显子组测序（ES）和基因组测序（GS）是罕见遗传病的诊断测试。研究报告了ES/GS的临床实用性。本系统评价的目的是确定如何在评估ES/GS结果对儿科患者影响的研究中定义和测量临床效用。
方法：在PubMed中确定了相关文章，Medline,Embase,和WebofScience。符合条件的研究评估了2021年之前发表的ES/GS对儿科患者的临床效用。其他相关文章是根据文章引用添加的。对文章进行编码以评估临床效用的定义和度量。
结果：在1346篇文章中，83篇文章符合资格标准。19%的研究没有明确定义临床效用，92%的研究没有使用明确的临床效用衡量标准。当存在时,临床效用的定义与推荐的定义不同，差异很大，从狭义（ES/GS的诊断产量）到广义（包括关于退出护理/姑息治疗和/或对其他家庭成员的影响的决定）。
结论：临床效用用于指导有关测试使用的政策和实践决策。缺乏ES/GS临床效用的标准定义可能导致对临床效用的低估或高估，使政策制定复杂化并引发道德问题。
方法：在PubMed中确定了相关文章，Medline,Embase,和WebofScience。符合条件的研究评估了2021年之前发表的ES/GS对儿科患者的临床效用。其他相关文章是根据文章引用添加的。对文章进行编码以评估临床效用的定义和度量。
结果：在1346篇文章中，83篇文章符合资格标准。19%的研究没有明确定义临床效用，92%的研究没有使用明确的临床效用衡量标准。当存在时,临床效用的定义与推荐的定义不同，差异很大，从狭义（ES/GS的诊断产量）到广义（包括关于退出护理/姑息治疗和/或对其他家庭成员的影响的决定）。
结论：临床效用用于指导有关测试使用的政策和实践决策。缺乏ES/GS临床效用的标准定义可能导致对临床效用的低估或高估，使政策制定复杂化并引发道德问题。
