(Beijing, December 2011). In a major health initiative, the Beijing Municipal Government recently announced a neonatal deafness gene mutation screening project, to examine the genetic status of 200,000 newborns in Beijing in 2012. The entire project has a budget of about 30 million USD and will be supported by government purchase. It is thought that this project is the world’s first mass genetic screening of newborn children for genetic predisposition to deafness, and could be a forerunner of other similar projects.
Dry blood spot samples routinely collected from newborn children for analysis purposes will be used. Some 133 local hospitals and maternity clinics in Beijing city and surrounding municipal region will collect the blood samples, which will then be analyzed at 6 central clinical laboratories, including the Beijing Tongren Hospital, the PLA General Hospital, the Peking Union Medical College Hospital, the Beijing Children’s Hospital, the Peking University Third Hospital, and the China Rehabilitation and Research Center for Deaf Children.
CapitalBio Corporation will provide the deafness gene mutation array assays, which detect the majority of mutations associated with deafness amongst Chinese peoples, as well as related assay equipment, software and database support and technical support for the project.
Deafness is one of the most common disabilities of newborns. In China, 60,000 hearing-impaired children are born annually. Some 6 percent of the Chinese population carry genetic deafness mutations, suggesting that as many as 12,000 sufferers may be identified among the 200,000 children born in Beijing in 2012. The screening project will result in facilitating the early detection, diagnosis and therapeutic intervention for deafness amongst the detected sufferers and their families, and thus will improve the welfare of citizens and is expected to bring longer-term savings by the directing earlier appropriate health care to families, improving the long term wellbeing of affected children. Overall the project is expected to reduce the costs to the community and the government through better early allocation of resources, as well as improving the social outcomes of affected children and families.
The detection of deafness gene mutations will add significantly to the current panel of neonatal screening tests which currently include screening for phenylketonuria (PKU), congenital hypothyroidism (CH), congenital heart disease (CHD) and congenital dislocation of the hip (CDH). The new deafness mutation screening results will be protected as private medical information. Positive results will be provided to all parents, together with the consultancy service of genetics and hearing healthcare. The newborns requiring further investigation will be eligible for confirmatory sequencing tests, diagnostic consultant guidance to their families, as well as appropriate medical intervention according to their needs. The genetic test for deafness represents an early assessment of individuals before complementary conventional testing for hearing impairment is undertaken in young children. Some of the mutations detected are also indicative of susceptibility to environmentally-induced deafness, and will allow steps to prevent the child being exposed to such factors and thus prevent deafness in those individuals. These mutations would not be detected by conventional clinical hearing tests.
It is thought that this deafness screening project in Beijing may be the first step towards a potential nation-wide neonatal genetic screening market of 500 million USDs.