Vera M Witjes, Dorien M A Hermkens, Julie E M Swillens, Yvonne H C M Smolders, Marian J E Mourits, Margreet G E M Ausems, Joanne A de Hullu, Marjolijn J L Ligtenberg, Nicoline Hoogerbrugge
{"title":"优化上皮性卵巢癌妇女遗传易感性的检测:在全国范围内实施 \"肿瘤第一 \"工作流程。","authors":"Vera M Witjes, Dorien M A Hermkens, Julie E M Swillens, Yvonne H C M Smolders, Marian J E Mourits, Margreet G E M Ausems, Joanne A de Hullu, Marjolijn J L Ligtenberg, Nicoline Hoogerbrugge","doi":"10.1007/s10689-024-00398-9","DOIUrl":null,"url":null,"abstract":"<p><p>Genetic testing in patients with ovarian carcinoma (OC) is crucial, as around 10-15% of these women have a genetic predisposition to OC. Although guidelines have recommended universal germline testing for all patients with OC for a decade, implementation has proved challenging, thus resulting in low germline-testing rates (around 30-50%). Many new initiatives to improve genetic-testing rates have emerged, but most have been carried out at the local level, leading to differences in workflows within and between countries. We present an example of a nationwide implementation project that has successfully led to a uniform, high-quality genetic-testing workflow for women with OC. Nationwide multidisciplinary meetings generated consensus on the preferred workflow for OC genetic testing: the \"Tumor-First\" workflow. This workflow means starting by testing the tumor DNA for the presence of pathogenic variants in OC-risk genes, thus providing a prescreen to germline testing while yielding information on the effectiveness of treatment with PARP inhibitors. This new workflow efficiently stratifies genetic counseling and germline testing and reduces healthcare costs. Although challenging, the nationwide implementation of this workflow was successful, resulting in tumor-DNA testing rates exceeding 80%. In this article, we present our structured implementation approach, illustrate our implementation strategies-which were tailored to identified factors important to implementation-and share the lessons learned from the Tumor-First implementation project. This knowledge could facilitate the future implementation of workflows aimed at optimizing the recognition of hereditary cancers.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"429-436"},"PeriodicalIF":1.8000,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11512879/pdf/","citationCount":"0","resultStr":"{\"title\":\"Optimizing the detection of hereditary predisposition in women with epithelial ovarian cancer: nationwide implementation of the Tumor-First workflow.\",\"authors\":\"Vera M Witjes, Dorien M A Hermkens, Julie E M Swillens, Yvonne H C M Smolders, Marian J E Mourits, Margreet G E M Ausems, Joanne A de Hullu, Marjolijn J L Ligtenberg, Nicoline Hoogerbrugge\",\"doi\":\"10.1007/s10689-024-00398-9\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Genetic testing in patients with ovarian carcinoma (OC) is crucial, as around 10-15% of these women have a genetic predisposition to OC. Although guidelines have recommended universal germline testing for all patients with OC for a decade, implementation has proved challenging, thus resulting in low germline-testing rates (around 30-50%). Many new initiatives to improve genetic-testing rates have emerged, but most have been carried out at the local level, leading to differences in workflows within and between countries. We present an example of a nationwide implementation project that has successfully led to a uniform, high-quality genetic-testing workflow for women with OC. Nationwide multidisciplinary meetings generated consensus on the preferred workflow for OC genetic testing: the \\\"Tumor-First\\\" workflow. This workflow means starting by testing the tumor DNA for the presence of pathogenic variants in OC-risk genes, thus providing a prescreen to germline testing while yielding information on the effectiveness of treatment with PARP inhibitors. This new workflow efficiently stratifies genetic counseling and germline testing and reduces healthcare costs. Although challenging, the nationwide implementation of this workflow was successful, resulting in tumor-DNA testing rates exceeding 80%. In this article, we present our structured implementation approach, illustrate our implementation strategies-which were tailored to identified factors important to implementation-and share the lessons learned from the Tumor-First implementation project. This knowledge could facilitate the future implementation of workflows aimed at optimizing the recognition of hereditary cancers.</p>\",\"PeriodicalId\":12336,\"journal\":{\"name\":\"Familial Cancer\",\"volume\":\" \",\"pages\":\"429-436\"},\"PeriodicalIF\":1.8000,\"publicationDate\":\"2024-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11512879/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Familial Cancer\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s10689-024-00398-9\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/5/29 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Familial Cancer","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s10689-024-00398-9","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/5/29 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
摘要
卵巢癌(OC)患者的基因检测至关重要,因为这些妇女中约有 10-15% 有卵巢癌遗传倾向。尽管十年前就有指南建议对所有卵巢癌患者进行普遍的基因检测,但实施起来却很困难,因此基因检测率很低(约为 30%-50%)。为提高基因检测率,出现了许多新举措,但大多数都是在地方层面实施,导致国家内部和国家之间的工作流程存在差异。我们介绍了一个全国性实施项目的实例,该项目成功地为 OC 妇女制定了统一、高质量的基因检测工作流程。全国多学科会议就 OC 基因检测的首选工作流程达成了共识:"肿瘤优先 "工作流程。该工作流程是指首先检测肿瘤 DNA 中是否存在 OC 风险基因的致病变异,从而为种系检测提供预筛,同时获得有关 PARP 抑制剂治疗效果的信息。这一新的工作流程有效地将遗传咨询和种系检测分层,并降低了医疗成本。尽管具有挑战性,但在全国范围内成功实施这一工作流程后,肿瘤 DNA 检测率超过了 80%。在这篇文章中,我们介绍了我们的结构化实施方法,说明了我们的实施策略(这些策略是根据已确定的对实施很重要的因素量身定制的),并分享了从肿瘤第一实施项目中吸取的经验教训。这些知识有助于今后实施旨在优化遗传性癌症识别的工作流程。
Optimizing the detection of hereditary predisposition in women with epithelial ovarian cancer: nationwide implementation of the Tumor-First workflow.
Genetic testing in patients with ovarian carcinoma (OC) is crucial, as around 10-15% of these women have a genetic predisposition to OC. Although guidelines have recommended universal germline testing for all patients with OC for a decade, implementation has proved challenging, thus resulting in low germline-testing rates (around 30-50%). Many new initiatives to improve genetic-testing rates have emerged, but most have been carried out at the local level, leading to differences in workflows within and between countries. We present an example of a nationwide implementation project that has successfully led to a uniform, high-quality genetic-testing workflow for women with OC. Nationwide multidisciplinary meetings generated consensus on the preferred workflow for OC genetic testing: the "Tumor-First" workflow. This workflow means starting by testing the tumor DNA for the presence of pathogenic variants in OC-risk genes, thus providing a prescreen to germline testing while yielding information on the effectiveness of treatment with PARP inhibitors. This new workflow efficiently stratifies genetic counseling and germline testing and reduces healthcare costs. Although challenging, the nationwide implementation of this workflow was successful, resulting in tumor-DNA testing rates exceeding 80%. In this article, we present our structured implementation approach, illustrate our implementation strategies-which were tailored to identified factors important to implementation-and share the lessons learned from the Tumor-First implementation project. This knowledge could facilitate the future implementation of workflows aimed at optimizing the recognition of hereditary cancers.
期刊介绍:
In recent years clinical cancer genetics has become increasingly important. Several events, in particular the developments in DNA-based technology, have contributed to this evolution. Clinical cancer genetics has now matured to a medical discipline which is truly multidisciplinary in which clinical and molecular geneticists work together with clinical and medical oncologists as well as with psycho-social workers.
Due to the multidisciplinary nature of clinical cancer genetics most papers are currently being published in a wide variety of journals on epidemiology, oncology and genetics. Familial Cancer provides a forum bringing these topics together focusing on the interests and needs of the clinician.
The journal mainly concentrates on clinical cancer genetics. Most major areas in the field shall be included, such as epidemiology of familial cancer, molecular analysis and diagnosis, clinical expression, treatment and prevention, counselling and the health economics of familial cancer.