Rapid whole-genome sequencing improves early diagnosis of rare diseases in children

Rare diseases are usually defined as diseases with an incidence of 0.
65‰ to 1‰.
There are many types of rare diseases, and there are currently more than 7,000 rare diseases
.
Although the incidence of rare diseases is low, the total number of patients with rare diseases in China is expected to exceed 10 million due to the huge population base in China

National health committee rare disease treatment and security committee director will be a member , Beijing Union Medical College Hospital Dean Professor Zhang Shu Yang said in his speech in the video, although the incidence of a rare disease is very low, but for each rare disease patients and their families need to take The difficulties and challenges are 100%
.
In recent years, China's rare disease treatment and social protection began to get attention and strong support of multi-parties, in 2016 the CPC Central State Council issued the "" Healthy China 2030 "Plan" clearly states that "with rare diseases to improve the protection policy"

Children are the hardest hit areas for rare genetic diseases, among which rare diseases with no clear cause, such as abnormal nervous system, complicated congenital heart disease, and severe coagulation dysfunction, are common diseases in clinically critically ill children.
The early symptoms of these diseases are often atypical.
The routine diagnosis process requires a variety of repeated inspections, which consumes time and brings huge pain and heavy economic burden to the children and the family
.

With the development of molecular diagnostic technology, genetic testing is playing an increasingly important role in the diagnosis of genetic-related diseases.
Whole-genome sequencing (WGS) technology provides a new technical method for the rapid diagnosis of genetic diseases in critically ill newborns
.
At a symposium co-sponsored by the National Children’s Medical Center, Fudan University Pediatrics Hospital and Inmena, China’s first "Expert Consensus on Rapid Whole Genome Sequencing of Critical Neonatal Inherited Diseases" was officially released.

Children's Hospital of Fudan University vice president Professor ZHOU Wen-hao said that the consensus of experts compiled a collection of the joint efforts of many domestic medical institutions and experts, for the clinical practice rapid whole genome sequencing of genetic diseases critically ill neonates China made complete Summary
.
Expert consensus points out that WGS can be applied to areas with high incidence of genetic diseases such as the respiratory system, nervous system, internal environment and metabolism, immunity and blood, and has strong practical clinical guidance value

According to Professor Wu Bingbing, deputy director of the Center for Molecular Medicine, National Children’s Medical Center, Fudan University Pediatric Hospital, based on the rapid, broad-spectrum, and accurate advantages of WGS in the diagnosis of critically ill neonates, the expert consensus clarifies the applicable population and implementation process of rapid WGS for the first time , The specific work of clinicians in the process of gene sequencing, molecular biology laboratory requirements, genetic testing data analysis and other operational specifications
.
Routine genetic testing usually takes 4 to 8 weeks, which cannot meet the needs of critically ill newborns for a rapid diagnosis.