Division Laboratories, Pharmacy and Biomedical Genetics, Dept. of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands.
Division Laboratories, Pharmacy and Biomedical Genetics, Dept. of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands; Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Universiteitsweg 100, 3584 CX Utrecht, the Netherlands.
Gynecol Oncol. 2022 Oct;167(1):115-122. doi: 10.1016/j.ygyno.2022.08.011. Epub 2022 Aug 26.
Germline genetic testing is increasingly offered to patients with epithelial ovarian cancer by non-genetic healthcare professionals, so called mainstream genetic testing. The aim of this study was to evaluate the effect of implementing a mainstream genetic testing pathway on the percentage of newly diagnosed patients with epithelial ovarian cancer to whom genetic testing was offered and the genetics-related healthcare costs.
The possible care pathways for genetic counseling and testing and their associated costs were mapped. Patient files from all newly diagnosed patients with epithelial ovarian cancer before (March 2016 - September 2017) and after (April 2018 - December 2019) implementing our mainstream genetic testing pathway were analyzed. Based on this analysis, the percentage of newly diagnosed patients to whom genetic testing was offered was assessed and genetics-related healthcare costs were calculated using a healthcare payer perspective based on a Diagnosis-Related Group financing approach.
Within six months after diagnosis, genetic testing was offered to 56% of patients before and to 70% of patients after implementation of our mainstream genetic testing pathway (p = 0.005). Genetics-related healthcare costs decreased from €3.511,29 per patient before implementation to €2.418,41 per patient after implementation of our mainstream genetic testing pathway (31% reduction, p = 0.000).
This study shows that mainstream genetic testing leads to a significantly higher proportion of newly diagnosed patients with epithelial ovarian cancer being offered germline genetic testing. In addition, it significantly reduces genetics-related healthcare costs per patient.
越来越多的非遗传专业医疗保健人员(所谓的主流遗传检测)向上皮性卵巢癌患者提供种系基因检测。本研究旨在评估实施主流遗传检测途径对新诊断的上皮性卵巢癌患者中接受基因检测的患者比例以及与遗传相关的医疗保健成本的影响。
绘制了可能的遗传咨询和检测途径及其相关成本。分析了在实施我们的主流遗传检测途径之前(2016 年 3 月至 2017 年 9 月)和之后(2018 年 4 月至 2019 年 12 月)所有新诊断的上皮性卵巢癌患者的患者档案。根据该分析,评估了接受基因检测的新诊断患者的比例,并根据按诊断相关组(DRG)融资方式计算了与遗传相关的医疗保健成本。
在诊断后六个月内,在实施我们的主流遗传检测途径之前,有 56%的患者接受了基因检测,而在实施之后则有 70%的患者接受了基因检测(p = 0.005)。在实施我们的主流遗传检测途径之前,每位患者的遗传相关医疗保健成本为 3511.29 欧元,之后为 2418.41 欧元(降低 31%,p = 0.000)。
本研究表明,主流遗传检测可使更多新诊断的上皮性卵巢癌患者接受种系基因检测。此外,它还显著降低了每位患者的遗传相关医疗保健成本。