Investigation On Clinical Application Of Nextgeneration Sequencing Technology In China

Next generation sequencing technology are playing an increasingly important role in life science basic research, while starting to enter clinical application by providing important information for disease diagnosis, treatment selection, prognosis monitoring etc.This research studied 6 clinical application fields in China, including NIPT, tumor mutation detection, genetic diseases and rare disease detection, PGS/PGD, HLA, epidemic control.From May, 2014 to Dec, 2014, 4000 questionnaires were distributed in 13 national translational medical conferences to academic scientists, translational medical scientists, diagnostic companies, clinical doctors and end users. 2380 questionnaires were recovered, and 3797 valid data were collected and analyzed.SWOT analysis results show that, for tumor mutation analysis, genetic diseases and rare disorders, though the application in hospitals keep growing, the major samples will still be sequenced by next generation sequencing technology in the third party commercial companies in next few years. Because most Chinese hospitals lack of sample processing and data analysis techniques as well as running cost consideration.NIPT sequencing will possibly be transferred from the third party companies to hospitals. Meanwhile, the main focus of NGS technology development will be switched from cost reducing and throughput to automation and sample flexibility.For PGS/PGD and transplantation fields, NGS will develop slowly in these fields due to clinic doctors and patients are unfamiliar with NGS technique. Helping doctors and patients comprehensively understanding NGS and its value for PGS/PGD and transplantation would be more important than simply technical support.We can expect that in near future NGS will become a regular diagnostic technique in those clinical fields mentioned above after cost cutting and technique improving. NGS application in Chinese medical fields will significantly elevate the general level of the Chinese public health system if Chinese government can build up relevant legislation and regulation for NGS clinical application, support the professional education and training of NGS for medical employees in time.