{"title":"遗传咨询师参与遗传和基因组测试顺序审查的影响：范围审查。","authors":"Courtney B Cook, Carly Pistawka, Alison M Elliott","doi":"10.1016/j.gim.2025.101354","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>The increasing complexity of genetic technologies paired with more genetic tests being ordered by nongenetic healthcare providers, has resulted in an increase in the number of inappropriately ordered tests. Genetic counselors (GCs) are ideally suited to assess the appropriateness of a genetic test.</p><p><strong>Methods: </strong>We performed a scoping review of GC involvement in utilization management initiatives in order to describe the impact of having GCs involved in this process. Five databases (MEDLINE, EMBASE, CINHAL, EBM reviews and Web of Science Core Collection) and grey literature were searched. We considered literature published in English since 2010.</p><p><strong>Results: </strong>A total of 51 studies were included. Most commonly evaluated outcomes included cancellation rate, economic efficiencies, impact on medical management, diagnostic rate and time or triage efficiencies. Several studies also described GC impact on nongenetic healthcare providers.</p><p><strong>Conclusion: </strong>Employment of GCs in the laboratory has been implemented widely as a solution to test misordering. These studies describe ways in which GCs can be integrated into testing workflows to reduce the number of inappropriate tests and have wider impacts on nongenetic healthcare providers ordering practices and the patient experience.</p>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":" ","pages":"101354"},"PeriodicalIF":6.6000,"publicationDate":"2025-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The impact of genetic counselor involvement in genetic and genomic test order review: A scoping review.\",\"authors\":\"Courtney B Cook, Carly Pistawka, Alison M Elliott\",\"doi\":\"10.1016/j.gim.2025.101354\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>The increasing complexity of genetic technologies paired with more genetic tests being ordered by nongenetic healthcare providers, has resulted in an increase in the number of inappropriately ordered tests. Genetic counselors (GCs) are ideally suited to assess the appropriateness of a genetic test.</p><p><strong>Methods: </strong>We performed a scoping review of GC involvement in utilization management initiatives in order to describe the impact of having GCs involved in this process. Five databases (MEDLINE, EMBASE, CINHAL, EBM reviews and Web of Science Core Collection) and grey literature were searched. We considered literature published in English since 2010.</p><p><strong>Results: </strong>A total of 51 studies were included. Most commonly evaluated outcomes included cancellation rate, economic efficiencies, impact on medical management, diagnostic rate and time or triage efficiencies. Several studies also described GC impact on nongenetic healthcare providers.</p><p><strong>Conclusion: </strong>Employment of GCs in the laboratory has been implemented widely as a solution to test misordering. These studies describe ways in which GCs can be integrated into testing workflows to reduce the number of inappropriate tests and have wider impacts on nongenetic healthcare providers ordering practices and the patient experience.</p>\",\"PeriodicalId\":12717,\"journal\":{\"name\":\"Genetics in Medicine\",\"volume\":\" \",\"pages\":\"101354\"},\"PeriodicalIF\":6.6000,\"publicationDate\":\"2025-01-11\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Genetics in Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1016/j.gim.2025.101354\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genetics in Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.gim.2025.101354","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
摘要
目的：基因技术日益复杂，再加上非基因医疗服务提供者要求进行更多的基因检测，导致不合理检测的数量增加。遗传咨询师（GC）是评估基因检测是否合适的理想人选：方法：我们对遗传咨询师参与使用管理计划的情况进行了范围审查，以描述遗传咨询师参与这一过程的影响。我们检索了五个数据库（MEDLINE、EMBASE、CINHAL、EBM reviews 和 Web of Science Core Collection）和灰色文献。我们考虑了 2010 年以来发表的英文文献：结果：共纳入 51 项研究。最常见的评估结果包括取消率、经济效益、对医疗管理的影响、诊断率和时间或分流效率。几项研究还描述了 GC 对非遗传医疗服务提供者的影响：结论：在实验室中广泛使用 GCs 是解决检验排序错误的一种方法。这些研究描述了如何将 GC 纳入检验工作流程，以减少不适当检验的数量，并对非遗传学医疗服务提供者的下单实践和患者体验产生更广泛的影响。
The impact of genetic counselor involvement in genetic and genomic test order review: A scoping review.
Purpose: The increasing complexity of genetic technologies paired with more genetic tests being ordered by nongenetic healthcare providers, has resulted in an increase in the number of inappropriately ordered tests. Genetic counselors (GCs) are ideally suited to assess the appropriateness of a genetic test.
Methods: We performed a scoping review of GC involvement in utilization management initiatives in order to describe the impact of having GCs involved in this process. Five databases (MEDLINE, EMBASE, CINHAL, EBM reviews and Web of Science Core Collection) and grey literature were searched. We considered literature published in English since 2010.
Results: A total of 51 studies were included. Most commonly evaluated outcomes included cancellation rate, economic efficiencies, impact on medical management, diagnostic rate and time or triage efficiencies. Several studies also described GC impact on nongenetic healthcare providers.
Conclusion: Employment of GCs in the laboratory has been implemented widely as a solution to test misordering. These studies describe ways in which GCs can be integrated into testing workflows to reduce the number of inappropriate tests and have wider impacts on nongenetic healthcare providers ordering practices and the patient experience.
期刊介绍：
Genetics in Medicine (GIM) is the official journal of the American College of Medical Genetics and Genomics. The journal''s mission is to enhance the knowledge, understanding, and practice of medical genetics and genomics through publications in clinical and laboratory genetics and genomics, including ethical, legal, and social issues as well as public health.
GIM encourages research that combats racism, includes diverse populations and is written by authors from diverse and underrepresented backgrounds.
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