Assessing the Clinical Benefits of Whole Genome Sequencing for Children with Neoplasms
试验速览
- 阶段
- 不适用
- 状态
- Enrolling By Invitation
- 发起方
- 入组人数
- 2,000
- 试验地点
- 1
- 主要终点
- The proportion of children clinically benefiting from whole genome sequencing
研究概览
简要总结
This retrospective case series reviews clinical notes to assess whether NHS whole genome sequencing provides tangible benefits for paediatric tumours.
详细描述
The NHSE-commissioned whole genome sequencing programme went live at the end of 2020. It remains as yet unproven, whether this whole genome sequencing programme for children with cancer can deliver tangible benefits in real-time. There is an urgent need, therefore, to assess whether children with tumours who are receiving NHS whole genome sequencing are actually benefiting from this additional assay. This is a retrospective case series. The principal methodology is that of reviewing clinical notes to assess whether children with tumours have benefited from NHSE whole genome sequencing. Apart from the contribution of our work to the scientific literature, this research will inform government on the potential benefits, or lack thereof, of the live NHSE whole genome programme and has the potential to influence policy on whether this programme should be continued.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 0 Years 至 21 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •All children and young people (up to the age of 21 years) diagnosed with a neoplastic disorder who have been offered NHSE whole genome sequencing.
排除标准
- •Anyone not offered NHSE whole genome sequencing
- •Individuals beyond the age of 21
- •Individuals without a neoplastic disorder.
结局指标
主要结局
The proportion of children clinically benefiting from whole genome sequencing
时间窗: 5.5 years
The proportion of children clinically benefiting from whole genome sequencing in terms of improving diagnoses, treatment, and prognostication, amongst other aspects
次要结局
- Relation between mutation data and disease phenotypes(5.5 years)