Work Plan for the Clinical Utility & Usefulness Measures Working Group of Medical Genome Committee

Abstract

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.

Keywords

• whole genome sequencing
• clinical utility assessment
• rare genetic diseases
• work plan