Genetic disease screening platform unveiled

Shanghai Children’s Medical Center has established the nation’s first AI-assisted rare disease diagnosis system, doctors told the Clinical Genetics Forum in the city on Saturday.

It is also the first such system developed based on Asian facial characteristics. Previous systems have been based on Caucasian features.

Genetic disease is a leading task for pediatricians. In leading hospitals like the Boston Children’s Hospital, about 60 percent of patients have genetic complaints.

“We are enhancing the ability on diagnosis of genetic diseases and rare diseases. So far, we have identified over 400 rare diseases in the lab and 50 to 60 diseases are reported in China for the first time,” said Dr Fu Qihua, vice president of Shanghai Children’s Medical Center. “Proper identification of genetic diseases and rare diseases can effectively direct clinical practice and give direction to parents if they plan to have a second child.”

Rare diseases are those with incidence lower than one in every 500,000, or lower than one in every 10,000 among newborns. There are over 7,000 known rare diseases in the world, about 80 percent of which are inherited. Half of those with rare diseases show symptoms upon delivery or during childhood. There are over 16.8 million people with rare diseases in China.

To streamline diagnosis, the hospital teamed up with Shanghai Jiao Tong University to develop the system, which can screen for possible diseases using certain facial features for a quicker and more accurate check.

“So far the system includes some 100 rare diseases with facial features,” said Dr Wang Xiumin, director of the hospital’s department of internal secretion and inheritance. “A similar system in the US has collected facial features of some 300. We developed ours own based on Asian features.”

Experts also call for screening for carriers of genetic and rare diseases before couples plan to start their family.

“Carriers of genetic and rare diseases are 10 percent in the population. For certain diseases, the percentage can be higher in specific regions. For instance, one fourth of people in Guangxi are carriers of thalassemia. Proper genetic tests for prenatal checks are effective and useful,” said Dr Shen Yiping, chairman of the forum.