| Popis: |
Whole genome sequencing(WGS)is one of the most robust strategies for diagnosing genetic diseases, especially rare genetic diseases, due to its ability to simultaneously detect a wide range of genetic mutations. However, the lack of relevant clinical standards and guidelines has posed obstacles to the widespread clinical application of WGS. By establishing the Clinical Utility & Usefulness Measures Working Group of Medical Genome Committee, we aim to develop a framework for the clinical utility assessment of WGS in China, which can provide evidence and reference for the clinical use of WGS in China. Here, we propose a work plan for the Clinical Utility & Usefulness Measures Working Group, offer explanations for the evaluation contents and strategies, and review the future prospects of the clinical utility assessment. |
