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.

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.

OBJECTIVE： To systematically evaluate the efficacy and safety for different infusion schemes of large-dose （＞500 mg/m2） of methotrexate in the treatment of osteosarcoma， and to provide evidence-based reference for clinical treatment. METHODS： Retrieved from Medline， Embase， clinicaltrials.gov， CJFD， Wanfang database and CBM database， observational studies and randomized/non-randomized controlled trials about therapeutic efficacy and safety for different infusion schemes （different doses and infusion time） of large-dose of methotrexate in the treatment of osteosarcoma were included during the establishment of the database to Mar. 2018. After data extraction and quality evaluation with methodological evaluation index of the Newcastle-Ottawa scale， Cochrane 5.1.0 bias risk evaluation tool and non-randomized controlled trials， Meta-analysis or descriptive analysis for blood drug concentration （c）， related toxicity （e.g. incidence of hepatotoxicity， incidence of hemotoxicity） were performed by using Rev Man 5.3 software. RESULTS： Totally 5 studies were included， involving 310 cases. Results of Meta-analyses indicated c0 h [MD＝－240.11， 95％CI（－271.47， －208.75）， P＜0.001]， c24 h [MD＝－0.09， 95％CI （－0.11， 0.08）， P＜0.001]， c48 h [MD＝－0.07， 95％CI （－0.10， －0.05）， P＜0.001]， c72 h [MD＝－0.05， 95％CI （－0.06， －0.03）， P＜0.001] and the incidence of liver toxicity [OR＝0.26， 95％CI （0.10， 0.67）， P＜0.005] in 8 g/m2 group were significantly lower than 10 g/m2 group. Results of descriptive analysis showed that when both groups were given 8 g/m2， c24 h of patients with 2 and 4 h infusion time was significantly lower than that of patients with 6 h infusion time. The incidence of leukopenia and thrombo- cytopenia in 8 g/m2 group was significantly lower than 10 g/m2 group. CONCLUSIONS： In the treatment of osteosarcoma with high-dose of methotrexate， appropriate dosage reduction （e.g. 8 g/m2） and appropriate prolongation of infusion time   （e.g. 6 h） may lead to a better efficacy and safety.

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.

OBJECTIVETo establish a clinical database of functional dyspepsia for epidemiological researches and standardizing clinical diagnosis and treatment.

METHODSThe functional dyspepsia database was designed to incorporate the data from in-patients and out-patients with functional dyspepsia treated since July, 2013 and was constructed using Visual Studio. The patient data were collected using a customized case report form designed according to the Roman criteria III and the etiology, symptoms, and treatments of the patients. All the cases deemed ineligible were excluded. The database was displayed on a website and allowed online data entry, case searches and statistical analysis of the clinical parameters.

RESULTS AND CONCLUSIONThe established online database for functional dyspepsia contained data of the general information, clinical symptoms, psychological status, living habits, dietary habits, medical history, examination results, clinical diagnosis, treatment methods and courses, outcomes and data statistics. The database was fully functional and provided complete and standardized data of functional dyspepsia for clinical studies.

Databases, Factual ; Dyspepsia ; Humans

Objective To establish a clinical database of functional dyspepsia for epidemiological researches and standardizing clinical diagnosis and treatment. Methods The functional dyspepsia database was designed to incorporate the data from in-patients and out-patients with functional dyspepsia treated since July, 2013 and was constructed using Visual Studio. The patient data were collected using a customized case report form designed according to the Roman criteria III and the etiology, symptoms, and treatments of the patients. All the cases deemed ineligible were excluded. The database was displayed on a website and allowed online data entry, case searches and statistical analysis of the clinical parameters. Results and Conclusion The established online database for functional dyspepsia contained data of the general information, clinical symptoms, psychological status, living habits, dietary habits, medical history, examination results, clinical diagnosis, treatment methods and courses, outcomes and data statistics. The database was fully functional and provided complete and standardized data of functional dyspepsia for clinical studies.

Objective To establish a clinical database of functional dyspepsia for epidemiological researches and standardizing clinical diagnosis and treatment. Methods The functional dyspepsia database was designed to incorporate the data from in-patients and out-patients with functional dyspepsia treated since July, 2013 and was constructed using Visual Studio. The patient data were collected using a customized case report form designed according to the Roman criteria III and the etiology, symptoms, and treatments of the patients. All the cases deemed ineligible were excluded. The database was displayed on a website and allowed online data entry, case searches and statistical analysis of the clinical parameters. Results and Conclusion The established online database for functional dyspepsia contained data of the general information, clinical symptoms, psychological status, living habits, dietary habits, medical history, examination results, clinical diagnosis, treatment methods and courses, outcomes and data statistics. The database was fully functional and provided complete and standardized data of functional dyspepsia for clinical studies.

OBJECTIVETo investigate the clinical features and prognosis of multiple primary colorectal carcinoma (MPCC).

METHODSAmong the 1462 patients with colorectal cancer admitted in our department from January 2000 to December 2007, 39 patients with MPCC were identified based on the Warran and Gates MPC diagnosis criteria. The age of onset, 5-year survival rate, lesion location and therapies were analyzed retrospectively.

RESULTSThe incidence of MPCC was 2.67% (39/1462). Eighteen of the patients had synchronous carcinomas and 21 were diagnosed to have metachronous carcinomas. Most of the tumors were located in the left colon and rectum. The average age of onset was (61.02∓13.94) in these patients who had an overall 5-year survival rate of 61.76%. The patients with metachronous carcinomas had a better prognosis than those with synchronous carcinomas. The 5-year survival rate of 3 early-stage cases (TNM stage I) was 100% after radical surgery. Thirty advanced cases underwent radical surgery combined with adjuvant chemotherapy, and their 1-, 3- and 5-year survival rates were 93.33%, 83.33%, and 73.33%, respectively. The 1- and 3-year survival rates of 3 advanced cases undergoing palliative surgery and adjuvant chemotherapy were 66.67% and 0, respectively. The 1- and 3-year survival rates of another 3 advanced cases with palliative chemotherapy were 66.67% and 0, respectively.

CONCLUSIONEarly diagnosis and effective treatment can help prolong the survival of MPC patients. Surgical intervention and chemotherapy can improve the survival and prognosis of patients with advanced MPCC.

Adult ; Aged ; Aged, 80 and over ; Colorectal Neoplasms ; diagnosis ; pathology ; Female ; Humans ; Male ; Middle Aged ; Neoplasm Staging ; Neoplasms, Multiple Primary ; diagnosis ; pathology ; Prognosis ; Retrospective Studies ; Survival Rate

OBJECTIVETo screen and identity genes related to CD133(+)CD200(+) colorectal cancer stem cells.

METHODSThe two subpopulations of colorectal cancer cells, namely CD133(+)CD200(+) and CD133(-)CD200(-) cells, were sorted and verified by flow cytometry. The gene expression profiles of CD133(+)CD200(+)and CD133(-)CD200(-) colorectal cancer cells were examined using Affymetrix Human U133 Plus2.0 genome-wide genechip. The differentially expressed genes between the two cell subpopulations were analyzed to identify the genes responsible for the main effect in association with colorectal cancer stem cells. Real-time quantitative PCR was performed to confirm some of the differentially expressed genes identified by genechip.

RESULTSThe genechip result showed that 655 genes were differentially expressed in CD133(+)CD200(+) colorectal cancer stem cells by at least 3 folds, including 290 up-regulated and 365 down-regulated ones. Bioinformatics analysis and gene co-expression network building identified 3 genes (MDM2, PRKACG, and CACNA1G) with specific expression in CD133(+)CD200(+) colorectal cancer stem cells, and this result was confirmed by real-time quantitative PCR analysis.

CONCLUSIONA specific gene expression profile of colorectal cancer stem cells has been established through screening and identifying genes related to CD133(+)CD200(+)colorectal cancer stem cells by gene genechip technique, which provides a basis for further study of gene targeting therapy of colorectal cancer.

AC133 Antigen ; Antigens, CD ; genetics ; metabolism ; Colorectal Neoplasms ; genetics ; Flow Cytometry ; Gene Expression Profiling ; Gene Expression Regulation, Neoplastic ; Glycoproteins ; genetics ; metabolism ; Humans ; Neoplastic Stem Cells ; metabolism ; Oligonucleotide Array Sequence Analysis ; Peptides ; genetics ; metabolism ; Transcriptome