China launched its first major project aimed at diagnosing rare children’s diseases on Saturday. The country’s pediatric experts will use a technique called whole genome sequencing (WGS) to begin building a database of rare and undiagnosed conditions, including mental disorders and physical deformities.
WGS, or mapping the entirety of an individual’s DNA, has attracted the attention of Chinese investors in recent years. Last year, the country’s gene-sequencing industry raised over 6.8 billion yuan ($1.08 billion).
But without authoritative applications from experts, it’s difficult for WGS to play a larger clinical role, said Yu Yongguo, a pediatrician at Xinhua Hospital and the head of the project.
“The [earlier] generations of gene-sequencing methods failed to give clear diagnoses for some rare diseases,” Yu said, according to a statement the hospital sent to Sixth Tone. “But this time we’ll work with WGS, which will help detect complex genetic variations that couldn’t be discerned in the past. Hopefully, we’ll be able to greatly improve the diagnosis rate of rare diseases using this new technique.”
The World Health Organization says that globally, there are over 6,000 confirmed rare diseases, or those affecting fewer than five out of every 10,000 people. Around 80 percent are caused by genetic defects, and half of all people with rare diseases first show symptoms at birth or during early childhood. The causes of most rare diseases, however, are unknown.
In 2011, the Research Center for Birth Defects at Fudan University in Shanghai estimated that there were around 16.8 million people living with rare diseases in China. Data from 2016 showed that there were some 200,000 people with rare diseases in Shanghai alone — half of whom were children. Less than 5 percent of these patients were receiving effective treatment, according to a report by Sixth Tone’s sister publication, The Paper.
“For now, diagnosing rare diseases is more important than treating them,” said Yu. By using WGS data to explore the pathogenesis of such conditions, he explained, medical researchers will be able to determine theoretical foundations for better treatment plans, and pediatric departments around the country will begin to apply common clinical standards for diagnosis. Eventually, Yu added, China will have a comprehensive database of genetic information from patients with rare diseases.
Yu said that while he and his team see WGS as an innovative and reliable method for diagnosing rare diseases, they also recognize their responsibility to protect patients’ privacy from the hospitals, researchers, and companies involved in the project. “Only with consent from patients and their families would members of the big data alliance be granted access to the data — and only for scientific purposes,” he said.
Editor: David Paulk.
(Header image: A boy naps while receiving a transfusion at a hospital in Guangzhou, Guangdong province, Jan. 9, 2018. Zhang Ziwang/VCG)