Page 44 - Genomic Medicine in Emerging Economies

Recent Development of Genomics-Related Public Health in China 33

each year. A report (2003–04) from the National Working Committee on
Children and Women under the State Council of China showed that there
were 800,000–1,200,000 newborns with birth defects, about 4%–6% of all
newborns. Newborn screening in China was first introduced in 1981, when
screenings for phenylketonuria, congenital hypothyroidism, and galactose-
mia were first implemented in Shanghai. Both the law on maternal and infant
health (launched in 1994) and its “action program” (launched in 2000) man-
dated newborn screening for congenital hypothyroidism and phenylketonuria
throughout the country. Since then, variations in provisions have emerged
across provinces and territories. The Guangdong and Guangxi Provinces in
southern China added a glucose-6-phosphatase dehydrogenase screening
program because of their local disease spectrum. Some territories in Nanjing,
Wuxi, and Shanghai in southeastern China have implemented congenital adre-
nal cortical hyperplasia screening. In addition, some territories of Shanghai
have implemented tandem mass spectrometry-based screening for amino,
organic, and fatty acid metabolic disorders. The Chinese Ministry of Health
has now targeted screening for hearing deficiency and piloted certain territo-
ries such as Shanghai. Until 2003 screening for hearing deficiency had cov-
ered 90% of newborns in Shanghai. In 2003 newborn screening in Beijing,
Shanghai, and Guangdong covered 95% of newborns, but only 20% of new-
borns were screened throughout the entire country; however, the extensive
countryside, small villages, and towns were omitted. A total of 133 labora-
tories for newborn screening was established in 2003. In China, congenital
hypothyroidism and hyperphenylalaninemia (phenylketonuria) have become
two essential screening items that have been implemented in all provinces and
territories. To date over 30 genetic disorders, including amino acid disorders
(e.g., phenylketonuria), organic acid disorders (e.g., propionic acidemia), and
fatty acid oxidation disorders (e.g., carnitine transporter deficiency), can be
screened in economically advanced provinces and territories by using a vari-
ety of assays, including high-performance liquid chromatography and tandem
mass spectrometry. Infants diagnosed with a condition will receive a follow
up appointment and families will be provided treatment and counseling by
newborn screening services in each province or territory within 10–20 days
after birth. Provision and fees for these screening tests vary from provinces/ter-
ritories to provinces/territories as well as from hospital to hospital, and most
are paid by patients as out-of-pocket expenses.

Genetic Testing
In China several laboratories for genetic testing have been founded. The genetic
tests mainly deal with diseases such as breast cancer, carcinoma of the large
intestine, heart rate abnormality, and nerve/muscle defects, which are taken as
a kind of auxiliary examination for early prevention, early diagnosis, and early
treatment. The State Key Lab of Medical Genetics of China was founded in 1984