How PerkinElmer Is Helping to Expand Neonatal Screening in Northwestern China

In many respects, the Xinjiang Uygur Autonomous Region is China’s ancient version of the “Wild West.” Once a critical link in the legendary trade route known as the Silk Road--and still a major gateway to Central Asia and the West—this enormous expanse of 1.6 million square kilometers (617,000 square miles) of rugged mountain ranges, vast arid plains, and lush oases is China’s largest province, making up nearly 17% of the entire country. As the northwestern border to eight other countries, Xinjiang’s 23 million residents represent no fewer than 47 different ethnic groups, each with their own distinct identity, heritage, culture, and lifestyle.

Recognizing the region’s unique diversity, The People’s Republic of China formally organized the Xinjiang area into the Autonomous Region in 1955. Since then, China has leveraged Xinjiang’s vast reserves of oil, natural gas, coal, and other natural resources to fuel a sea change in the lives of a once predominantly nomadic people. Infrastructure development, urbanization, and modern healthcare are all steadily advancing across the region. Some 160 hospitals now serve Xinjiang’s widely diverse population, which is growing at a rate of about 1.6 percent a year. While Xianjiang future is bright, one pervasive medical condition continues to plague the region: congenital hypothyroidism in newborns, which, if undetected, causes a series of maladies, including retardation.

The Origins of Newborn Screening in Xinjiang

Xinjiang’s higher incidence of congenital hypothyroidism led the Xinjiang Akesu Research Institute of Endemic Disease and Control to launch an investigation of the disease in 1989. Newborn screening did not actually begin in the area until the late 1990s for any number of reasons. First is the region’s vast size, which remains home to a number of nomadic tribes. Raising public awareness of the genetic disease also poses its own challenges in the multi-ethnic, multi-lingual province. Finally, there is the issue of cost.

By 1998, The First Affiliated Hospital of Xinjiang Medical University and the Xinjiang Uygur Autonomous Region People's Hospital pioneered the neonatal screening process, but their early efforts were limited to babies born in the hospital. That same year, the General Hospital in Urumqi, the largest city in China's western interior, also began neonatal screening and established a rough network for newborn screening throughout the region. By 2003, Maternal and Child Health Hospital opened the region’s first fully dedicated newborn screening center in Xinjiang.

In 2009, the Ministry of Health of the People's Republic of China issued detailed regulations for the expansion of neonatal screening throughout the Xinjiang region. It also designated the Xinjiang Medical University, Xinjiang Uygur Autonomous Region People's Hospital, and the Urumqi General Hospital as primary leads in creating the first advanced neonatal disease screening laboratory in the region. While neonatal screening now plays an integral part in the plans to expand regional health care across the territory, the actual screening rate remains low, in comparison to the rest of China. By the end of 2014, 80 % of babies born in the country will be screened for at least two disorders (CH and PKU), and screening uptake exceeds 90% in China's more advanced provinces.

Providing an Integrated Solution

In 2005, PerkinElmer began providing Xinjiang’s neonatal centers with integrated neonatal screening solutions and ongoing training and support based on its VICTOR2D fluorometer technology. A cost-effective alternative to a fully automated clinical system, the instrument is pre-programmed with protocols for several neonatal analytes. These include tests for Congenital Hypothyroidism (CH), Phelynketonuria (PKU), Congenital Adrenal Hyperplasia (CAH), Cystic Fibrosis (IRT), Biotinidase deficiency (BTD), G6PD deficiency and Galactosemia.

In addition to outfitting Xinjiang’s neonatal centers with its VICTOR2D fluorescence technology, PerkinElmer sponsors an ongoing series of academic conferences and user meetings in the region. These events have come to serve as an invaluable communications exchange of information, experiences, and expertise relating to neonatal genetic disorders throughout China. Thanks to the strength of its global brand, the company’s proactive approach in promoting neonatal screening is generating some heartwarming results. In 2012, for instance, the Ministry of Health of the People's Republic of China launched a newborn screening project to support Xinjiang’s neonatal screening initiatives that are built on PerkinElmer solutions. Those efforts are making a difference. Xinjiang’s newborn screening rate increased by 13% with more than 240,000 newborns tested in 2012 alone. Among those babies, 26 were identified and immediately treated for Phenylketonuria (PKU), a genetic condition that can cause serious physical and mental disorders if undetected within the first few days of life. While they may never realize it, PerkinElmer made a difference that will last them a lifetime.