Renji Hospital introduces online genetic screening and guidance service

Shanghai's Renji Hospital has initiated an innovative service by introducing genetic screening for congenital diseases onto its online platform.

Based on a service provided by medical professionals and artificial intelligence, people can access 24/7 online consultation and guidance to arrange appropriate genetic screening to reduce the risk of birth defects in their offspring.

The service was officially launched on Wednesday and its English version will be available soon.

Birth defects are one of the main causes of death for the fetus and infants, as well as causing congenital disability. Globally, it has become a major public health issue impacting population health.

"To aid patients, we introduced the online system, which can help patients choose an appropriate screening package based on their individual condition, pay the fee, and book blood collection," said Dr Sun Yun, vice president of Renji Hospital and director of reproductive medicine department, which sees some 250 couples in which one or both spouses are expatriates each year.

"For those with complicated situations, the system will guide them to the offline outpatient service and help make an appointment with doctors," Sun added.

"The best time for genetic screening is when couples who are planning to start a family. If genetic risks are detected, we offer consultations and relevant suggestions such as pre-implantation of genetic testing technology, through which doctors conduct genetic testing on embryos and select healthy embryos for transplant to prevent genetic diseases."

The hospital offers packages for screenings on 41 genes, 155 genes, and 500-odd genes ranging from 1,200 yuan (US$168.71) to 4,000 yuan. The 41-gene package covers the commonest genetic disorders, the 155-gene package covers all diseases with a 1 percent carrier rate, and the larger package has comprehensive genetic checks including the risk of certain cancers, such as the BRCA gene linked to breast cancer.

For couples planning to have children, doctors said they usually suggest the 155-gene package, and the 41-gene package for women in the early stage of pregnancy.

"It is suggested that both husband and wife undergo the genetic screening. Everyone carries several to dozens of pathogenic genes. If both spouses have the same genetic mutation, the risk for their children to have the disease can be as high as one-fourth," Sun said.

"During our clinical practice, people in East China tested commonly with deaf genes. The prevalence in our screening was 11 percent. The prevalence of genes causing muscular dystrophy is one in every 50 to 80 people.

"Among the some 8,000 couples treated at our hospital last year, there were three couples among every 100 who were detected with mutations of the same genes," she added. "For those with a family history of genetic diseases and a history of an unsuccessful pregnancy, it is very important to undergo genetic screening and counseling."