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.

The widespread application of next generation sequencing (NGS) in clinical settings has enabled testing, diagnosis, treatment and prevention of genetic diseases. However, many issues have arisen in the meanwhile. One of the most pressing issues is the lack of standards for reporting genetic test results across different service providers. The First Forum on Standards and Specifications for Clinical Genetic Testing was held to address the issue in Shenzhen, China, on October 28, 2017. Participants, including geneticists, clinicians, and representatives of genetic testing service providers, discussed problems of clinical genetic testing services across in China and shared opinions on principles, challenges, and standards for reporting clinical genetic test results. Here we summarize expert opinions presented at the seminar and report the consensus, which will serve as a basis for the development of standards and guidelines for reporting of clinical genetic testing results, in order to promote the standardization and regulation of genetic testing services in China.

China ; Humans ; Thoracic Surgery ; trends ; Thoracic Surgical Procedures ; trends

Objective It is still controversial how to deal with the congenital heart disease with advanced pulmonary hypertension.The choices of treatment for these patients must depend on the character and degree of pulmonary vascular change.The pulmonary vascular change correlates well with hemodynamics and acute pulmonary vasoreactivity test.Therefore,it will play an important role to obtain accurately these evaluations.Methods This paper studies 85 cases (38 males and 46 females) with congenital heart disease complic ated with advanced pulmonary hypertension and bidirectional shunt,which are diagnosed by echocardiography.Whose age range is (22.8 ± 16.5 ) and weight range (46.4 ± 12.1 ) kg.Among those cases,42 are VSD,11 are ASD,9 are VSD with patent ductus arteriosu,7 are patent ductus arteriosu,5 are ASD with VSD,and 11 are the others.With congenital heart disease complicated with advanced pulmonary hypertension and bidirectional shunt,which are diagnosed by echocardiography.There were floating catheter retention of 4 to 13 days ( average 7.5 days).Through the right subclavian vein or jugular vein,floating catheter is inserted into pulmonary artery.Pulmonary artery pressure is recorded continuously and analyzed.Hemodynamics,acute pulmonary vasoreactivity test and drug sensitivity test are evaluated.Differences of the hemodynamics are analyzed between echocardiography and floating catheter examination.Results Compared with floating catheter examination,there are not significantly difference for the diagnosis of advanced pulmonary hypertension(98.8％ vs.100％,P ＞ 0.05),less accurately diagnosis (64.3％ vs.100％,P ＜ 0.05 ) and higher (H)false positive rate (8.4％ vs.0,P ＜ 0.05) for Eisenmenger syndrome in echocardiography examination.Floating catheter examination shows that mean systolic pulmonary artery pressure(PAP)/mean systolie body artery blood pressure (BP) and mean PAP / mean BP were equal to 1.22 ± 0.35 and 1.07 ± 0.11 respectively.The patients presented total pulmonary vascular resistance of ( 17.6 ± 8.3) Wood units.Bidirectional shunt volume is more than 30％ cardiac outputs in 7 cases.Apart from 14 cases with Eisenmenger syndrome,total pulmonary vascular resistance is ( 11.3 ± 3.7) Wood units.Acute pulmonary vasoreactivity test presents positive in 67 cases.After drug sensitivity test,14 cases with Eisenmenger syndrome underwent medical treatment and waited lung transplantation or heart-lung transplantation.Floating catheter examination happened hematoma(2/85 ) in 2 patients.71 cases underwent surgical treatment.Operative complications included right heart failure (6/71) and pulmonary infection (5/71).Operative mortality was 5.6％ (4/71).The main causes of death were right heart failure.Compared with preoperative arterial oxygen saturation,postoperative arterial oxygen saturation increased by (9.7 ± 4.1 ) ％ ( P ＜ 0.05 ).Conclusion Floating catheter examination can evaluate accurately pulmonary hypertension,hemodynamics,acute pulmonary vasoreactivity test,drug sensitivity test and bidirectional shunt volume.All the patients,who were diagnosed as advanced pulmonary hypertension with bidirectional shunt by echocardiography,should undergo floating catheterization.Floating catheter examination can provide reliable,objective theoretical basis for the choice of treatment in the congenital heart diseases with advanced pulmonary hypertension.

As the completion of human genome project, application of the knowledge and techniques developed during thpast decade to the medical practice become more and more important and gain more and more attention. It is worthwhile to look back to the step prints of the development of medical genetics in China.1 The sprout of genetics in ChinaIt should be mentioned fromthe very beginning of the birth of the genetics in China to understand the historymedical genetics in China. In 1922, C.CHEN (Zhen CHEN) opened genetic courses in National Southeast Unversity after he returned from the T.H.MORGAN’s lab at Columbia University. He used Goldfish as a model fogenetic study. The Chinese scholars started their work on human genetics by survey the frequency of ABO bloogroup in the Chinese. Their result was published in1918. This was the first data of gene frequency of Chinese population, followed by reports on the inherited disease in Chinese on the frequency of color blindness in 1937. I1948, T. C. HSU described the ability to fold up the tip of the tongue as a recessive trait (MIM189300)[1,2]C.C.LI (Ching Chun LI) wrote a book,Introduction to Population Genetics, which became a wellknown book ithe world and from which a whole generation of geneticists benefited.

Objective: To review the experience of the esophageal replacement with colon. Methods: The data from 548 patients were summarized and analyzed, including the diseases type, operations type, selection of the colon segment, colon blood supply and pathway for pulling-up of transplanted colon. Results: Postoperative complications occurred in 86 cases (15。69%), with 10 deaths (mortality rate 1。82%). The 1,3,5 years survival rate were 85。6%, 60。8% and 32。4%, respectively. All the patients in the group of benign esophageal diseases survived well with normal lives and activities, after 2～25 years of follow-up. Conclusion: There are several keys to ameliorate the results and reduce the complications rate to 15。69% and mortality rate to 1。82%. The keys are choosing of isoperistaltic transposition, ascending branch of left colica artery, retrosternal tunnel, a single-row suturing by cervical esphagocolostomy and prevention of complications (injury of recurrent laryngeal nerve, thoracic colon syndrome and esophageal pouch syndrome).

Objective To compare the myocardial protective effect between off pump coronary artery bypass(OPCAB) and on pump coronary artery bypass in the aged. Methods Four five patients were randomly divided into 3 groups:off pump coronary artery bypass (n=15),tepid blood cardioplegia group(n=15) and cold blood cardioplegia group (n=15).There was no statistical difference in heart function,sex,age and lesion of coronary artery .Venous blood samples were taken for determineing the serum concentration of creatine kinase MB isoenzyme(CK MB),troponin I perioperatively and the clinical situations were observed postoperatively. Results CK MB,troponin I release in beating group during and after bypass was lower than that in on pump groups( P