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
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
With the development of medical genomics,whole genome sequencing(WGS)has been pla-ying an increasingly important role in the diagnosis and treatment of rare diseases.To effectively promote the ap-plication of WGS in clinical diagnosis and treatment of rare diseases,further standardize gene testing technolo-gy,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.