Genetic testing of inherited diseases in newborn

The genome projects for newborn in China and embryonic Genome Projects in China have just been launched in 2016. They are the major components of single target human genome projects. China has been planning to complete 100,000 cases of neonatal genetic testing in 5 years, establishing the genetic testing standards of newborn genetic disease and further promoting the precision intervention of birth defects. Genetic testing can realize early detection, prevention and prognosis in critical illness, provide fundamental information for individualized therapy. There are more than 1500 diseases can be monitored by this technique at present. In recent years, with the rapid development of whole - genome sequencing technology, including sequence analysis and copy number variation analysis, revolutionary changes to the diagnosis of genetic diseases have been popping up all over the field.

The academician of Chinese Academy of Sciences and famous genetic biologist, Prof. Lin He pointed out there are more than 7000 well-known genetic diseases and about 900,000 children with birth defects annually in China alone. And this number will increase dramatically with the enforcement of two-child policy. President of the Children‘s Hospital affiliating to Fudan University, Dr. Guoying Huang, noted that there are numerous hereditary diseases in clinic, such as primary immunodeficiency diseases, hereditary metabolic diseases and multiple malformation syndromes, etc. It is of great clinical and economic significance to identify and diagnose these diseases early in life， so we can optimize therapeutic regimen, improve the quality of life of patients and to achieve precision treatment. For example, if infants with phenylketonuria (PKU) are identified in time at early stage via metabolic screening and gene diagnosis, we can systematically design personalized therapeutic programs for patients by combination of diet and medication. Then the infants will develop and grow up as normal kids. Once the optimal intervention opportunity was missed, irreversible damages to the neuron system will cause life-long suffering to the patients.