Pre-testing preparation is the basis and starting point of genetic testing.The process includes collection of clinical information,formulation of testing scheme,genetic counseling before testing,and completion of informed consent and testing authorization.To effectively identify genetic diseases in clinics can greatly improve the diagnostic rate of next generation sequencing (NGS),thereby reducing medical cost and improving clinical efficacy.The analysis of NGS results relies,to a large extent,on the understanding of genotype-phenotype correlations,therefore it is particularly important to collect and evaluate clinical phenotypes and describe them in uniform standard terms.Different types of genetic diseases or mutations may require specific testing techniques,which can yield twice the result with half the effort.Pre-testing genetic counseling can help patients and their families to understand the significance of relevant genetic testing,formulate individualized testing strategies,and lay a foundation for follow-up.

With high accuracy and precision,next generation sequencing (NGS) has provided a powerful tool for clinical testing of genetic diseases.To follow a standardized experimental procedure is the prerequisite to obtain stable,reliable,and effective NGS data for the assistance of diagnosis and/or screening of genetic diseases.At a conference of genetic testing industry held in Shanghai,May 2019,physicians engaged in the diagnosis and treatment of genetic diseases,experts engaged in clinical laboratory testing of genetic diseases and experts from third-party genetic testing companies have fully discussed the standardization of NGS procedures for the testing of genetic diseases.Experts from different backgrounds have provided opinions for the operation and implementation of NGS testing procedures including sample collection,reception,preservation,library construction,sequencing and data quality control.Based on the discussion,a consensus on the standardization of the testing procedures in NGS laboratories is developed with the aim to standardize NGS testing and accelerate implementation of NGS in clinical settings across China.

Bioinformatic analysis and variant classification are the key components of high-throughput sequencing-based genetic diagnostic approach.This consensus is part of the effort to develop a standardized process for next generation sequencing (NGS)-based test for germline mutations underlying Mendelian disorders in China.The flow-chart,common software,key parameters of bioinformatics pipeline for data processing,annotation,storage and variant classification are reviewed,which is aimed to help improving and maintaining a high-quality process and obtaining consistent outcomes for NGS-based molecular diagnosis.

Clinical genetic testing results are compiled into a standardized report by genetic specialists and provided to clinicians and patients (Should the patient be intellectually disabled or under 18,the report will be provided to his/her parents or legal guardians).The content of genetic testing report should conform to relevant guidelines,industry standards and consensus.The decisions of clinicians will be made based on the report and clinical indications.Genetic counselors should provide post-test counseling to clinicians and patients or their authorized family members.A mechanism of follow-up visit after the genetic testing should be established with informed consent.Data should be shared by clinical institutions and genome sequencing institutions.As findings upon follow-up visit can help with further evaluation of the results,genome sequencing institutions should regularly re-analyze historical and follow-up data,and the updated results should be shared with clinical institutions.All activities involving reporting,genetic counselling,follow-up visiting,and re-analyzing should follow the relevant guidelines and regulations.

This study aims to provide a brief overview of the history and development of global health education (GHE) as academic degree programs worldwide,and to identify GHE's development opportunities and obstacles in China.This is a state-of-the-art review of published and unpublished information that described and evaluated disci-plinary development of global health degree programs worldwide,written in English,and published or shared be-tween 1990 and 2020.Data were derived from official websites of leading global health institutions,like "Google Scholar","PubMed",and unpublished information such as presentation files and unpublished manuscripts col-lected from knowledgeable leaders in the field.We retrieved and reviewed a total of 35 articles and a large amount of unpublished information or sources on the internet.Global Health emerged as a new discipline around the end of the last millennium and proliferated in the last two decades in developed nations,especially the United States and the United Kingdom.The development of China's GHE programs was built on China's increasing engagement in global health affairs and research.In 2012,Wuhan University established the first official global health de-partment in China.Several universities such as Peking University and Duke Kunshan University subsequently set up departments or programs to offer undergraduate and postgraduate majors and degrees.The first school-level global health unit was established in Shanghai in 2019.The Consortium of Chinese Universities for Global Health(CCUGH) grew from 10 founding members in 2013 to 25 in 2020.Major desirable attributes "unique" to stu-dents majoring in global health include global-mindedness,health interests,compassion,intercultural sensitivity,and adventurous spirit.Graduates from GHE programs have a diverse set of career choices spanning research,government,not-for-profit,and private sector occupations.We identified a number of strengths,weaknesses,opportunities,and threats to the future development of GHE in China.To ensure sustainable future growth,we advocate addressing the following key aspects:(1) clearer disciplinary distinctions;(2) multidisciplinary col-laborations;(3) public-sector investments;and (4) non-public sectors participation.Amidst China's increasing engagement in health affairs globally and the proliferation of GHE programs in developed nations,China has experienced fast growth in GHE degree programs since 2012 while a number of challenges remain for its future development.