Portrait of author

Min Jian:
The Clinical Application of Next Generation Sequencing Technology in Newborn Screening and Pharmacogenetics

Date: 30-06-2021    Supervisor: Karsten Kristiansen




China has put great efforts in prenatal testing and newborn screening to control and reduce a proportion of birth defects during the last decades. However, many infants were still undiagnosed due to the limitation of metabolic testing and small panel screening strategy, hence a comprehensive and scalable screening method for newborn is in need. In addition to birth defects, the reported number of adverse drug reactions (ADR) rise significantly in the last twenty years, representing a major health problem for Chinese population. Previous studies have revealed that genetic factors and ethnic difference are crucial in predicting and preventing ADRs. Unlike the United States or European countries, China is lack of pharmacogenetic baseline dataset in order to facilitate new drug development and reduce ADRs through pre-emptive PGx profiling.

Recognizing the emerging role of NGS as a tool for population studies, we aim to evaluate the potential of WGS-based method in expanded newborn screening (NBS) and developing pharmacogenetic baseline dataset in Chinese population.

Our study has demonstrated the clinical benefits of extended NBS using genomic sequencing to detect treatable or curable conditions in 321 unselected children. In addition, a high-quality pharmacogenetic baseline dataset was set up using high-depth whole genome sequencing data, which could serve as a useful resource to guide pre-emptive PGx screening and facilitate new drug development in the future.