Newton Fund - Development of a rapid ParaDNA test kit for improved clinical management of patients with breast cancer and associated co-morbidities

包括癌症和心血管疾病在内的非传染性疾病是全球死亡的主要原因。南非医学研究理事会（SAMRC）通过支持开发一种新的基因检测平台，重点关注许多非传染性疾病共有的疾病途径，对可转化研究的迫切需求作出了回应。为了与联合国确保健康和促进福祉的可持续发展目标相联系，LGC（英国）与SAMRC的衍生公司Gknowmix和Stellenbosch大学合作，开发了一种新的护理点（PoC）诊断测试系统和筛查工具，以改善乳腺癌患者及其相关合共病的临床管理。这个测试平台是通过使用LGC ParaDNA技术实现的，该技术可以检测乳腺癌发展中重要的基因变化。基因检测可由非专业用户在1小时内完成，而标准实验室方法从采集样本到报告结果需要1周时间。PoC技术将首次用于检测两种主要乳腺癌易感基因（BRCA1和BRCA2）的变化，以及各种非传染性疾病共有的其他基因的变化。使用该技术生成的患者报告有助于确定是否有必要对治疗失败、药物副作用或最初评估无法解释的合并症患者进行进一步检测。将独特的ParaDNA PoC技术与gnknowmix的专有算法相结合，使该系统能够在南非和全球范围内进行扩展，为乳腺癌患者以及有患心血管疾病和其他相关非传染性疾病风险的患者带来显着益处。在PoC提供基因检测，可以更好地获得基因检测和全面护理，降低成本，并更快地报告，以便及时实施有效的干预战略。

Non-communicable diseases (NCDs) including cancer and cardiovascular disease (CVD) are major causes of death globally. The South African Medical Research Council (SAMRC) has responded to the dire need for translatable research by supporting the development of a novel genetic testing platform focused on disease pathways that are shared by many NCDs. To link to the United Nations' Sustainable Development Goal of ensuring health and promoting well-being, LGC (UK) in collaboration with the SAMRC's spinout company, Gknowmix, and Stellenbosch University has developed a novel point of care (PoC) diagnostic testing system and screening tool to improve the clinical management of patients with breast cancer and its associated co-morbidities. This testing platform is made possible by using the LGC ParaDNA technology that enables detection of genetic changes that are important in the development of breast cancer. Genetic testing may be done by non-expert users and within 1 hour, compared to standard laboratory methods that takes 1 week from sample collection to result reporting. For the first time, PoC technology will be used to detect changes in the two main breast cancer susceptibility genes (BRCA1 and BRCA2), as well as changes in other genes shared by various NCDs. The patient reports generated using this technology helps to determine whether further testing is necessary in patients with treatment failure, medication side-effects or co-morbidities that are not explained by the initial assessment. Combining the unique ParaDNA PoC technology with the proprietary algorithms of Gknowmix, enables this system to be scaled in South Africa and globally, with significant benefit to patients with breast cancer and those at risk of developing CVD and other associated NCDs. The availability of genetic testing at the PoC enables better access to genetic testing and overall care, reduced costs and faster reporting for timely implementation of effective intervention strategies.