Free gene tests for Qingdao women to cut rate of birth defects

Women of childbearing age in the coastal city of Qingdao, Shandong province, are being offered free gene-sequencing tests to lower the risk of birth defects.

The examinations are available to all 260,000 female residents in the Qingdao West Coast New Area who are pregnant or plan on getting pregnant, including migrant workers, the city government said on Wednesday.

They include prenatal gene exams as well as tests to detect neonatal genetic diseases and cervical and breast cancer. In China, such checks can cost up to 2,000 yuan ($295).

"It is one of the welfare projects we offer," said Zhou Chunli, deputy director of the new area’s health bureau. "It aims to take advantage of genetic technology to reduce the rate of birth defects to the lowest international standard in five years, as well as improve women’s health."

Tests are conducted by Beijing Genomics Institute — which, despite its name, is based in Shenzhen, Guangdong province — and are jointly funded by the new area government, Qingdao Women and Children’s Hospital, and BGI.

"The service is strictly in accordance with national regulations and standards, and genetic information collected in the exams is strictly confidential," Zhou said.

According to research, traditional screening for Down syndrome has an accuracy rate of about 80 percent, while the false positive rate is about 5 percent. In addition, the method is not suitable for women over 35, who are instead recommended to have an amniocentesis, in which fetal tissue is extracted and tested.

Wang Jian, chairman of BGI, said a noninvasive prenatal examination using genetic technology is more comprehensive and advanced.

"The accuracy rate can reach 99.99 percent, while the false positive rate is as low as 0.1 percent," he said.

Between April 25, when the tests started, and June 8, BGI completed 1,907 prenatal gene exams and issued 1,238 final reports.

The tests have identified two high-risk cases of Down syndrome; two high-risk cases of Patau syndrome, which can cause severe intellectual and physical disabilities; and two high-risk cases of Edwards syndrome, a potentially life-threatening condition.

BGI has invested 3 billion yuan to open a base at the new area’s Sino-German Eco-Park. It features a lab covering more than 1,000 square meters and nine domestically developed gene sequencers.