Globally, an estimated 8 million or 6% of babies are born with a birth defect every year1, creating significant physical, psychological and economic repercussions on individuals, families and healthcare systems.
Birth defects are structural or functional anomalies that occur during intrauterine life, and can be identified during pregnancy, at birth, or only much later2. As they can cause long-term disabilities, identifying the symptoms at an early stage will enable appropriate and timely medical intervention before more serious, and sometimes irreversible, health issues surface.
BGI Group aims to raise awareness about the impact of birth defects by promoting the importance of screening programs and research to identify causes. In particular, the Group has made extensive contributions to the screening and detection of hearing impairment in the young.
In China, hereditary hearing impediment affects between 30,000-60,000 newborns every year3, nearly half of which have delayed-onset deafness and drug-induced deafness.
By using high-throughput sequencing technology, BGI has developed a test that helps accurately determine neonatal deafness gene defects, and with its HearingCare® Newborn Deafness Gene Detection Kit, BGI Group’s approach can simultaneously detect non-syndromic deafness, such as congenital, delayed, auditory neuropathy and drug-sensitive deafness, as well as syndromic deafness genes with high morbidity, or with hearing impairment as the primary cause.
BGI’s hearing-impaired prevention and control screening has already been successfully rolled out in a number of cities in China. Through advances in genetic screening, prevention or early intervention can be carried out to tackle congenital hearing loss, and save more children that carry deafness genes from the world of silence.
BGI made further updates to their testing technology in 2021: increasing the number of detected genes by 72% and shortening the testing cycle by 43%. Combining with international professional database, BGI has constructed a database of special loci of deafness for the Chinese population, providing detailed and rich annotations for the interpretation of deafness disease data.
As of June 2021, more than 4.5 million newborns and adults have received BGI's hereditary hearing loss screening services, among whom thousands were diagnosed with congenital deafness or late onset deafness.
Those affected by onset deafness were provided with opportunities for early detection and early treatment. About 230,000 who were found to be carrying common deafness gene mutations were also treated for deafness prevention and control.
Last December, BGI Group, together with the China Association of the Deaf, the Shenzhen Association of the Deaf, and the Shenzhen Maternity and Child Health Hospital, launched “Deafness Prevention and Control - Project Shenzhen”4.
The project created awareness of hereditary hearing loss, and conducted free genetic testing for some hearing-impaired people and their family members. Applications from 127 hearing-impaired families were received, with 23 families screened and 50 blood samples collected for genetic testing.
At the global level, the World Health Organization (WHO) has called hearing loss or deafness one of the world’s most serious diseases. Around the world, 34 million children live with disabling hearing loss, of which 60% of cases are preventable5. Genetic factors are responsible for over 50% of hearing loss encountered in neonates, and account for nearly 40% of childhood hearing loss6. The continued efforts by the scientific community to advance early detection can go a long way towards lowering the disease burden on future generations.