{"title":"基因组测序临床实用性评估的系统性综述:缺乏标准定义和临床实用性衡量标准的影响。","authors":"Claudia Azuelos , Marc-Antoine Marquis , Anne-Marie Laberge","doi":"10.1016/j.ejmg.2024.104925","DOIUrl":null,"url":null,"abstract":"<div><h3>Purpose</h3><p>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.</p></div><div><h3>Methods</h3><p>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.</p></div><div><h3>Results</h3><p>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).</p></div><div><h3>Conclusion</h3><p>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.</p></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"68 ","pages":"Article 104925"},"PeriodicalIF":1.6000,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S176972122400017X/pdfft?md5=9b5e70319407f11c453377cf08fa49d2&pid=1-s2.0-S176972122400017X-main.pdf","citationCount":"0","resultStr":"{\"title\":\"A systematic review of the assessment of the clinical utility of genomic sequencing: Implications of the lack of standard definitions and measures of clinical utility\",\"authors\":\"Claudia Azuelos , Marc-Antoine Marquis , Anne-Marie Laberge\",\"doi\":\"10.1016/j.ejmg.2024.104925\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Purpose</h3><p>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.</p></div><div><h3>Methods</h3><p>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.</p></div><div><h3>Results</h3><p>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).</p></div><div><h3>Conclusion</h3><p>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.</p></div>\",\"PeriodicalId\":11916,\"journal\":{\"name\":\"European journal of medical genetics\",\"volume\":\"68 \",\"pages\":\"Article 104925\"},\"PeriodicalIF\":1.6000,\"publicationDate\":\"2024-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S176972122400017X/pdfft?md5=9b5e70319407f11c453377cf08fa49d2&pid=1-s2.0-S176972122400017X-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"European journal of medical genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S176972122400017X\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"European journal of medical genetics","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S176972122400017X","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
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。本系统综述旨在确定在评估 ES/GS 结果对儿科患者影响的研究中如何定义和衡量临床效用:方法:在 PubMed、Medline、Embase 和 Web of Science 中查找相关文章。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。根据文章的参考文献添加其他相关文章。对文章进行编码,以评估临床效用的定义和衡量标准:在 1346 篇文章中,83 篇符合资格标准。19%的研究未明确定义临床效用,92%的研究未使用明确的临床效用衡量标准。临床效用的定义与推荐定义存在差异,而且差异很大,从狭义(ES/GS 的诊断结果)到广义(包括撤消护理/姑息治疗的决定和/或对其他家庭成员的影响):结论:临床效用用于指导有关检验使用的政策和实践决策。缺乏对 ES/GS 临床效用的标准定义可能会导致临床效用被低估或高估,从而使政策制定复杂化并引发伦理问题。
A systematic review of the assessment of the clinical utility of genomic sequencing: Implications of the lack of standard definitions and measures of clinical utility
Purpose
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).
Conclusion
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.
期刊介绍:
The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models.
Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as :
• Dysmorphology and syndrome delineation
• Molecular genetics and molecular cytogenetics of inherited disorders
• Clinical applications of genomics and nextgen sequencing technologies
• Syndromal cancer genetics
• Behavioral genetics
• Community genetics
• Fetal pathology and prenatal diagnosis
• Genetic counseling.