Division Laboratories, Pharmacy and Biomedical Genetics, dept. of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584, CX, Utrecht, The Netherlands.
Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, Plesmanlaan 121, 1066, CX, Amsterdam, The Netherlands.
BMC Cancer. 2022 Dec 30;22(1):1365. doi: 10.1186/s12885-022-10429-2.
In international guidelines, germline genetic testing is recommended for patients with metastatic prostate cancer. Before undergoing germline genetic testing, these patients should receive pre-test counseling. In the standard genetic care pathway, pre-test counseling is provided by a healthcare professional of a genetics department. Because the number of patients with metastatic prostate cancer is large, the capacity in the genetics departments might be insufficient. Therefore, we aim to implement so-called mainstream genetic testing in the Netherlands for patients with metastatic prostate cancer. In a mainstream genetic testing pathway, non-genetic healthcare professionals discuss and order germline genetic testing. In our DISCOVER study, we will assess the experiences among patients and non-genetic healthcare professionals with this new pathway.
A multicenter prospective observational cohort study will be conducted in 15 hospitals, in different regions of the Netherlands. We developed an online training module on genetics in prostate cancer and the counseling of patients. After completion of this module, non-genetic healthcare professionals will provide pre-test counseling and order germline genetic testing in metastatic prostate cancer patients. Both non-genetic healthcare professionals and patients receive three questionnaires. We will determine the experience with mainstream genetic testing, based on satisfaction and acceptability. Patients with a pathogenic germline variant will also be interviewed. We will determine the efficacy of the mainstreaming pathway, based on time investment for non-genetic healthcare professionals and the prevalence of pathogenic germline variants.
This study is intended to be one of the largest studies on mainstream genetic testing in prostate cancer. The results of this study can improve the mainstream genetic testing pathway in patients with prostate cancer.
The study is registered in the WHO's International Clinical Trials Registry Platform (ICTRP) under number NL9617.
国际指南推荐对转移性前列腺癌患者进行种系基因检测。在进行种系基因检测之前，这些患者应接受检测前咨询。在标准遗传护理途径中，检测前咨询由遗传科的医疗保健专业人员提供。由于转移性前列腺癌患者数量众多，遗传科的能力可能不足。因此，我们旨在荷兰实施所谓的转移性前列腺癌患者主流基因检测。在主流基因检测途径中，非遗传医疗保健专业人员讨论并订购种系基因检测。在我们的 DISCOVER 研究中，我们将评估该新途径对患者和非遗传医疗保健专业人员的体验。
将在荷兰不同地区的 15 家医院进行一项多中心前瞻性观察队列研究。我们开发了一个关于前列腺癌遗传学和患者咨询的在线培训模块。完成该模块后，非遗传医疗保健专业人员将为转移性前列腺癌患者提供检测前咨询和订购种系基因检测。非遗传医疗保健专业人员和患者都将收到三份问卷。我们将根据满意度和可接受性来确定主流基因检测的体验。还将对携带致病性种系变异的患者进行访谈。我们将根据非遗传医疗保健专业人员的时间投入和致病性种系变异的流行率来确定主流途径的疗效。
这项研究旨在成为前列腺癌主流基因检测中最大的研究之一之一。该研究的结果可以改进前列腺癌患者的主流基因检测途径。
该研究在世界卫生组织的国际临床试验注册平台（ICTRP）下注册，编号为 NL9617。
