M. J. Kotze, K. A. Grant, N. C. van der Merwe, N. W. Barsdorf, M. Kruger
{"title":"应对将基因组医学融入临床实践的伦理挑战:在精准肿瘤学中实现惠益最大化","authors":"M. J. Kotze, K. A. Grant, N. C. van der Merwe, N. W. Barsdorf, M. Kruger","doi":"10.7196/sajbl.2024.v17i1.2071","DOIUrl":null,"url":null,"abstract":"\n\n\n\nThe development of gene expression profiling and next-generation sequencing technologies have steered oncogenomics to the forefront of precision medicine. This created a need for harmonious cooperation between clinicians and researchers to increase access to precision oncology, despite multiple implementation challenges being encountered. The aim is to apply personalised treatment strategies early in cancer management, targeting tumour subtypes and actionable gene variants within the individual’s broader clinical risk profile and wellbeing. A knowledge-generating database linked to the South African Medical Research Council’s Genomic Centre has been created for the application of personalised medicine, using an integrated service and research approach. Insights gained from patient experiences related to tumour heterogeneity, access to targeted therapies and incidental findings of pathogenic germline variants in tumour DNA, provided practice-changing evidence for the implementation of a cost-minimisation pathology-supported genetic testing strategy. Integrating clinical care with genomic research through data sharing advances personalised medicine and maximises precision oncology benefits.\n\n\n\n","PeriodicalId":43498,"journal":{"name":"South African Journal of Bioethics and Law","volume":null,"pages":null},"PeriodicalIF":0.5000,"publicationDate":"2024-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Navigating ethical challenges of integrating genomic medicine into clinical practice: Maximising beneficence in precision oncology\",\"authors\":\"M. J. Kotze, K. A. Grant, N. C. van der Merwe, N. W. Barsdorf, M. Kruger\",\"doi\":\"10.7196/sajbl.2024.v17i1.2071\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\\n\\n\\n\\nThe development of gene expression profiling and next-generation sequencing technologies have steered oncogenomics to the forefront of precision medicine. This created a need for harmonious cooperation between clinicians and researchers to increase access to precision oncology, despite multiple implementation challenges being encountered. The aim is to apply personalised treatment strategies early in cancer management, targeting tumour subtypes and actionable gene variants within the individual’s broader clinical risk profile and wellbeing. A knowledge-generating database linked to the South African Medical Research Council’s Genomic Centre has been created for the application of personalised medicine, using an integrated service and research approach. Insights gained from patient experiences related to tumour heterogeneity, access to targeted therapies and incidental findings of pathogenic germline variants in tumour DNA, provided practice-changing evidence for the implementation of a cost-minimisation pathology-supported genetic testing strategy. Integrating clinical care with genomic research through data sharing advances personalised medicine and maximises precision oncology benefits.\\n\\n\\n\\n\",\"PeriodicalId\":43498,\"journal\":{\"name\":\"South African Journal of Bioethics and Law\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.5000,\"publicationDate\":\"2024-04-23\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"South African Journal of Bioethics and Law\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.7196/sajbl.2024.v17i1.2071\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"MEDICAL ETHICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"South African Journal of Bioethics and Law","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.7196/sajbl.2024.v17i1.2071","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"MEDICAL ETHICS","Score":null,"Total":0}
引用次数: 0
摘要
基因表达谱分析和新一代测序技术的发展将肿瘤基因组学推向了精准医疗的前沿。这就需要临床医生和研究人员之间和谐合作,以增加精准肿瘤学的可及性,尽管在实施过程中遇到了多重挑战。其目的是在癌症治疗的早期应用个性化治疗策略,针对个人更广泛的临床风险和健康状况中的肿瘤亚型和可操作的基因变异。已创建了一个与南非医学研究理事会基因组中心相连的知识生成数据库,用于采用综合服务和研究方法应用个性化医疗。从与肿瘤异质性、获得靶向治疗以及偶然发现肿瘤 DNA 中的致病基因变异有关的患者经验中获得的见解,为实施成本最小化的病理支持基因检测战略提供了改变实践的证据。通过数据共享将临床治疗与基因组研究结合起来,可以推进个性化医疗并最大限度地提高精准肿瘤学的效益。
Navigating ethical challenges of integrating genomic medicine into clinical practice: Maximising beneficence in precision oncology
The development of gene expression profiling and next-generation sequencing technologies have steered oncogenomics to the forefront of precision medicine. This created a need for harmonious cooperation between clinicians and researchers to increase access to precision oncology, despite multiple implementation challenges being encountered. The aim is to apply personalised treatment strategies early in cancer management, targeting tumour subtypes and actionable gene variants within the individual’s broader clinical risk profile and wellbeing. A knowledge-generating database linked to the South African Medical Research Council’s Genomic Centre has been created for the application of personalised medicine, using an integrated service and research approach. Insights gained from patient experiences related to tumour heterogeneity, access to targeted therapies and incidental findings of pathogenic germline variants in tumour DNA, provided practice-changing evidence for the implementation of a cost-minimisation pathology-supported genetic testing strategy. Integrating clinical care with genomic research through data sharing advances personalised medicine and maximises precision oncology benefits.