To Promote the Application of Genetic Testing Technology in the Diagnosis and Treatment of Rare Diseases in China-Establishment and Work Prospect of Medical Genome Committee

Abstract

With the development of medical genomics, whole genome sequencing (WGS) has been playing an increasingly important role in the diagnosis and treatment of rare diseases. To effectively promote the application of WGS in clinical diagnosis and treatment of rare diseases, further standardize gene testing technology, improve the training of clinicians, raise public awareness, and actively promote relevant policy support, a Medical genome Committee led by the China Alliance for Rare Diseases/Beijing Society of Rare Disease Clinical Care and Accessibility was established. This paper aims to introduce the Medical Genome Committee and its main focus, and forecasts the future plans and prospects.

Keywords

• rare diseases
• genomics
• whole genome sequencing
• medical genome committee