CN109994180A - A kind of accurate medication intelligent reporting system of the information management module containing gene loci - Google Patents

Abstract

The present invention provides a kind of accurate medication intelligent reporting system of information management module containing gene loci, the system comprises information management module and information analysis and processing module, the information management module includes Drug-gene pair project information management module and gene loci information management module；The gene loci information management module increases newly for user to gene loci information involved in system and/or editorial management.Gene loci can be a variety of for CYP2D6*10 (C188T), CYP2D6*5 (del), CYP2D6*14 (G1846A), the area HBV-BCP (A176ZT) and the area HBV-BCP (G1764A) etc. in the present invention, the demand of a variety of different Drug-gene pair projects in correspondence present system.System suitability of the present invention is wide, and the system to the analysis of experimental result and provide the genetic test report comprising accurate drug direction speed it is fast.

Description

A kind of accurate medication intelligent reporting system of the information management module containing gene loci

Technical field

The present invention relates to genetic test fields, and in particular to a kind of accurate medication intelligence of the information management module containing gene loci It can reporting system.

Background technique

The life of gene and the mankind are closely bound up, and a main aspect is embodied in the significant impact of gene pairs human health, The health of geneogenous gene defect or gene mutation posteriority and individual, generation, the development of disease have it is close can not The connection divided.As the relationship of gene and human body health is found more and more, confirmation, in order to meet society to more preferable Ground prevents and treats the demand of gene-associated diseases, has emerged in large numbers the mechanism of numerous offer technique of gene detection services both at home and abroad.

Product of the medicine examining report as medicine detection service, accuracy and timeliness are always medicine detection service The pursuit of industry.Medical Molecular Biology detects related detection method or platform is varied, to the result of different platform It is analyzed, required knowledge background is not quite similar, and analytical standard is also not quite similar.And provide the different institutions of detection service The disparity items of either same mechanism takes the considerations of having itself with the content of examining report, pattern for detection platform With require.

Currently, most of testing agency, still using it is pure it is artificial by the way of carry out the interpretation of testing result, examining report out Tool, and be also to be distinguished using artificial in the selection of examining report pattern.Pure artificial working method inefficiency, knowledge office Limit, annotates unilateral, when facing high-volume data processing, is easy fatigue, influences work quality, and when business tine be related to it is more When a detection method or platform, the ability and quantitative requirement of participating in the personnel that testing result is interpreted and analyzed can be improved.As it can be seen that Pure artificial working method also will affect the accuracy and timeliness of examining report while increasing human cost and time cost Property.

Existing some medicine examining report system spininess detect business to similar biochemical conventional traditional medicine, rare It is related to the reporting system of genetic test, can only be automatically analyzed for a kind of testing result of platform or even need manually to divide Typing testing result after analysis, intelligent inadequate, applicability is not strong；And it is more rare be related to the relevant reporting system of accurate medication, It is unintelligible to the definition of project, it is not easy to understand, can not reach and know together in the industry.In addition, automatic detection report generation also only A kind of set standardized report style of energy, and the individual demand of different institutions or project can not be met simultaneously, and lack The insertion of manual examination and verification process.In conclusion the limitation of the existing analyzable detection platform of examining report system and frequently The fault that may cause of manual operation all will affect the accuracy and timeliness of examining report.

Application for a patent for invention CN201710468430 provides a kind of genetic test Product Reporting System and method, the system Include: mobile terminal sales service system, selects genetic test product for user and place an order payment and to acquire the basic of subject Information and sample binding information；Clinical sample management system, for receiving the subject's from mobile terminal sales service system Essential information and sample binding information；Laboratory data management system, for storing sample since placing an order to sequencing data Until going to designated storage location from sequenator；Laboratory data management system is arrived in storage after report preparing system generates report In, and be pushed to mobile terminal sales service system and be sent to specified report recipient；Report preparing system comes from for receiving The subject's essential information and sample binding information of clinical sample management system and the detection from laboratory data management system As a result, generating report.But from specification as it can be seen that in the invention generation for providing and reporting of knowledge on drug abuse all rely on manually It completes, genetic test report can not be automatically generated.

Application for a patent for invention CN201810594702 provide a kind of clopidogrel medication related gene examining report from Dynamic presentment system, covers numerous information such as patient basis, testing result, test result, personalized medicine suggestion, can Bulk information is effectively integrated, concentrate displaying, personalized medicine proposal part that can uniformly edit after directly apply, Personalized remark information can individually be added；Even if, can also be according to genetic test instrument in the case where detection number of cases is more On related gene (CYP 2C19, PON1 and ABCB1 gene) genotype result quickly, efficiently and accurately provide chlorine pyrrole Gray's medication related gene examining report, as long as the basic clinical information of typing patient and genetic test as a result, can provide automatically Examining report.The a large amount of manpowers provided and expended when cumbersome report are avoided, a large amount of time cost can be saved, and can reduce out Error generation rate when tool report, consequently facilitating the use in medical staff's clinical position.The system only for clopidogrel this The single drug of kind and corresponding genetic test are effective.

Application for a patent for invention CN201810883463 provides a kind of health guidance report generation side based on genetic test Method, device and server, the input operation of the disease to be checked including obtaining user's genetic test result and user's input first； Then gene loci information corresponding with disease to be checked is determined according to the corresponding relationship between preset disease and gene loci； Then genotype information corresponding with gene loci information is determined in user's genetic test result；It is then based on gene loci letter Breath, genotype information and preset calculation formula calculate the health index of user；Finally according to health index and preset health Report generation mode generates health guidance report, in order to user according to health guidance report carry out disease to be checked prevention and Control solves and is not difficult to the technical issues of accurately carrying out disease prevention and control due to knowing about genetic profile, reached side It helps user to understand itself genetic profile and health condition, preferably carries out the technical effect of prevention and the control of disease.Invention is special Sharp CN201410487501 disclose it is a kind of automatically generate genetic test report method and device, this method comprises: obtain by Examine the hereditary information and sample information of object；By hereditary information query gene database, table corresponding with hereditary information is obtained Reference breath；The normalized template of genetic test report is called, and sample information and characterization information corresponding with hereditary information are led Enter in normalized template, automatically generates genetic test report.By the above-mentioned means, the present invention can save the plenty of time, guarantee Accuracy is in time reported genetic test and is updated.Above system cannot go out automatically for different genetic test projects Has the examining report of the knowledge containing medication guide.

Therefore, a kind of method that this field needs accurate medication intelligent reporting system and generates report.

Summary of the invention

Therefore, the present invention provides a kind of accurate medication intelligent reporting system of information management module containing gene loci, described System includes information management module (1) and information analysis and processing module (2), and the information management module (1) includes drug base Because to project information management module (149) and gene loci information management module (147), the information analysis and processing module It (2) include information Auto-matching module (21) and sample information processing and analysis module (256)；

The information management module (1) is mainly used for providing the information material after arranging for Systematic selection and matching；Institute State Drug-gene pair project information management module (149) for using system user is newly-increased in systems and/or editorial management Drug-gene pair project information includes multiple Drug-gene pair items in the Drug-gene pair project information management module (149) Mesh, each Drug-gene pair project include a kind of or a kind of drug and one or more genes, the Drug-gene pair item Mesh information is used to provide premise for system automatic identification and matching experimental file information and gene information；The gene loci information Management module (147) increases newly for user to gene loci information involved in system and/or editorial management；

The information Auto-matching module (21) is used to for the information after information management module (1) management being uploaded to user Experimental result file in system carries out Auto-matching and parsing, and the sample information processing and analysis module (256) are used Experimental result file is uploaded in system and is used for after system automatically parses experimental result file artificial by family Handle sample information.

In a kind of specific embodiment, the information management module (1) further includes knowledge on drug abuse library information management mould Block (150), and knowledge on drug abuse library information management module (150) is used to increase newly using the user of system and/or editorial management Knowledge on drug abuse library information, knowledge on drug abuse library information are used to obtain and the base for system is automatic before providing genetic test report The knowledge on drug abuse information to match by testing result.

In a kind of specific embodiment, the information management module (1) further includes experimental file information management module (157), the experimental file information management module (157) is newly-increased for user and/or arranges the experiment knot of storage in systems Fruit the file information, in the experimental result file comprising using sequenator by testing the experiment knot of the sample detected under line Fruit.

In a kind of specific embodiment, the information Auto-matching module (21) includes experimental file information automatic With module (254), gene information Auto-matching module (258), knowledge on drug abuse information Auto-matching module (261) and pending report Automatically-generating module (255)；

The experimental file information Auto-matching module (254) and gene information Auto-matching module (258) are provided commonly for By in experimental result file and system gene information Auto-matching and parsing；The knowledge on drug abuse information Auto-matching module (261) pass result for automatically parsing after system automatically parses experimental result file to system or to artificial Knowledge on drug abuse Auto-matching in knowledge on drug abuse library in the result and system filled in；The pending report automatically-generating module (255) for being automatically generated after the knowledge on drug abuse information Auto-matching module (261) is matched to relevant administration knowledge information Pending examining report；It is preferred that the sample information processing and analysis module (256) include uploading experimental result for user Pre-processing module of the file into system；It further include after system automatically parses experimental result file for manually locating Manage the post-processing module of sample information.

In a kind of specific embodiment, the post-processing module includes for the " pending of manual examination and verification system generation The first unit of report ", preferably described " first unit " are set as successively " pending by two different expert user manual examination and verification Report ", the expert user includes first trial expert and review expert；It is preferred that the post-processing module includes for determining system Result for " suspicious " i.e. " unqualified " makes artificial judgement, with determine the result whether He Ge second unit.

In a kind of specific embodiment, the post-processing module includes for the other users for using the system Manually it is determined as that the result of " qualification " carries out manual review, to check whether the result is subjected to, and is result in review When acceptable, " third unit " of the result into system is filled out for choosing.

In a kind of specific embodiment, the Drug-gene pair project information include 5-FU-DPYD, 5-FU-MSI, 5-FU-MTHFR, 5-FU-TP, 5-FU-TYMS, the area Aldoforwe ester-HBV-P, alfentanil-CYP3A4, alfentanil- CYP3A5, Aripiprazole-CYP2D6, adriamycin-GATP1.GSTM1, platinum class-GSTP1, rifampin-NAT2, warfarin- In CYP2C9.VKORC1, aspirin-COX1, clopidogrel-CYP2C19, folic acid-MTHFR and Irinotecan-UGT1A1 It is one or more.

In a kind of specific embodiment, the Drug-gene pair project information includes anthracycline-containing drug and gene Anthracycline-the TOP2A (mRNA) of TOP2A (mRNA), and the class drug of anti-epileptic containing aromatic series and gene HLA-B aromatic series resist it is insane Epilepsy class-HLA-B.

In a kind of specific embodiment, sample information processing and analysis module (256) include " sample information ", " patient information ", " project information ", " other information ", " report audit " this five administrative units；Drug gene in the system It is 10 or more to the Drug-gene pair number of entry in project information management module (149), preferably at 50 or more, more preferably At 100 or more；Drug and gene information are all the same in the same Drug-gene pair project, in different Drug-gene pair projects Drug information and/or gene information are different.

In a kind of specific embodiment, the gene loci includes the corresponding site CYP2D6*10 of gene C YP2D6 (C188T), CYP2D6*5 (del) and CYP2D6*14 (G1846A) and gene " area HBV-BCP " and " area HBV-P " are corresponding The area gene loci HBV-BCP (A176ZT), the area HBV-BCP (G1764A), the area HBV-P (V173L), the area HBV-P (M204V/1/ S), the area HBV-P (M250V), the area HBV-P (N236T), the area HBV-P (A181V/T), the area HBV-P (S202G/I), the area HBV-P (I169T), one of the area HBV-P (T184A/G/1/S) or a variety of.

The present invention at least has the following beneficial effects:

1, compared with prior art, accurate medication intelligent reporting system disclosed by the invention, information analysis and processing module Automatically each detection of platform result can be parsed, completes Quality Control filtering, result interpretation, can automatically extracts or generate each inspection Survey result original figure spectrum；And examining report template can be chosen on demand automatically and then fill relevant information, examining report is generated, It is capable of the flow state of real-time exhibition detection sample and reminds in real time.Specifically, in each Drug-gene pair project of the invention It all include a kind of or a kind of drug determined and one or more genes determined, medicine between two different Drug-gene pair projects Object is different and/or gene is different.Each project can be in literary style drug in preceding gene in rear or gene in prodrug rear. Based on setting in the present invention, there are many different Drug-gene pair projects, system provided by the invention can automatically extract and match Corresponding data enable system of the present invention to judge automatically the corresponding medicining condition of the genotype and by system automatically generated Examining report.Only because allowing report more rigorous to the maximum extent and making providing for report more careful, thus the present invention is by system " pending report " is automatically generated, just forms report final draft to be downloaded after carrying out manual examination and verification by expert.Especially preferably two The different experts in position successively audit the pending report rear and form report final draft to be downloaded.

2, system energy real-time exhibition of the present invention and prompting sample flow state.Preferably, system of the present invention exists It is embedded in the process of manual examination and verification sample information modification application before inspection, is embedded in manual examination and verification in inspection and artificial treatment does not conform to The process of manual examination and verification examining report is embedded in after the process of lattice testing result, inspection, it is ensured that the controllability and peace of operation flow Quan Xing.

3, the present invention can send examining report to specified mailbox automatically, it is ensured that report the timeliness of granting.The present invention exists While reducing human cost and time cost and optimize allocation of resources, the accuracy and timeliness of examining report are improved.

4, the present invention is based in such a way that Drug-gene pair is named, will test various testing results and medication guide in project It is recommended that corresponding, when being provided for examining report, automatically according to same in drug-gene naming rule matching knowledge on drug abuse library The corresponding default medical significance of one drug gene name project is transferred automatically, it is no longer necessary to artificially according to different testing results It goes to write or select medication guide suggestion.And store in real time, sum up the relevant research report of project, it regularly updates medication guide and builds View, it is ensured that the accurate of projects medication guide suggestion, specification and uniformly.

5, the present invention largely reduces artificial participation, reduces time cost and human cost, improves detection The accuracy and timeliness that interpretation of result and report are provided.

6, preferred, of the invention system management module containing backlog information 151, system being capable of timely automated transmission phase The wechat or QQ account that the pending list answered is specified to concerned account numbers are realized real time monitoring, are handled in real time.

7, preferred, of the invention system information management module containing report template 160, the present invention are realizing standardization report Personalized report style demand can be met on the basis of pattern.

8, preferred, the present invention can apply accurate medication intelligent management system management misconduct destination file, can be reduced artificial The risk that file caused by factor is lost and safety is low improves the query accuracy and speed of experimental result file, not only imitates Rate is high, and safety is also relatively high.

It 9, include multiple submodule in information management module 1 in the present invention, wherein knowledge on drug abuse library information management module 150 A variety of sample informations of corresponding management in a variety of knowledge on drug abuse information of middle corresponding management, sample type information management module 152, A variety of drug informations of corresponding management in drug information management module 153, corresponding management is more in gene information management module 146 Several genes site information, the sample status information pipe of corresponding management in kind gene information, gene loci information management module 147 Manage a variety of sample status informations of corresponding management in module 148, corresponding management is a variety of in data dictionary information management module 159 A variety of report template information etc. of corresponding management in data dictionary information and report template information management module 160, be all for The demand of multi-class and a variety of different Drug-gene pair project information in corresponding present system.For example, base in the present invention Because site can be CYP2D6*10 (C188T), CYP2D6*5 (del), CYP2D6*14 (G1846A), the area HBV-BCP (A176ZT) and the area HBV-BCP (G1764A) etc. is a variety of, a variety of different Drug-gene pair projects in corresponding present system Demand.System suitability of the present invention is wide, and the system to the analysis of experimental result and is provided comprising accurate drug direction The speed of genetic test report is fast.

Detailed description of the invention

Fig. 1 is the structural schematic diagram of accurate medication intelligent reporting system of the present invention.

Fig. 2 is working-flow figure.

Fig. 3 is that can the Small Cell Lung Cancer that completed use the pharmacogenomics genetic test of drug " Irinotecan " Report.

The genetic risk genetic test report that Fig. 4 is the folate metabolism disorder-MTHFR not yet completed.

Fig. 5 is the examining report for the toxic side effect risk for taking platinum medicine completed.

The examining report of the toxic side effect risk of Fig. 6 is that has completed take another Drug-gene pair of platinum medicine.

Fig. 7 is the corresponding page schematic diagram of Drug-gene pair project information management module 149.

Fig. 8 is the corresponding page schematic diagram of knowledge on drug abuse library information management module 150.

Fig. 9 is the corresponding page schematic diagram of backlog information management module 151.

Figure 10 is the corresponding page schematic diagram of experimental file information management module 157.

Figure 11 is the corresponding page schematic diagram of gene loci information management module 147.

Figure 12 is the corresponding page schematic diagram of report template information management module 160.

Figure 13 is that the preset schematic diagram of rule is carried out to gene information Auto-matching module 258.

Figure 14 is by testing 258 Auto-matching of the file information Auto-matching module 254 and gene information Auto-matching module The site result and result map obtained afterwards.

Figure 15 is the preset schematic diagram of rule for knowledge on drug abuse information Auto-matching module 261, and specifically can with It is operated in medicine knowledge base information management module 150.

Figure 16 is by testing 258 Auto-matching of the file information Auto-matching module 254 and gene information Auto-matching module Result is suspicious afterwards, and the site result and result map obtained after sample information processing and analysis module 256 are handled.

Figure 17 is that laboratory technician user uploads experimental result file into system in sample information processing and analysis module 256 Page schematic diagram.

Specific embodiment

Embodiment 1

Embodiment 1 is the general introduction and effect of the genetic test intelligent reporting system of the accurate medication of guidance of the present invention.

One, in the present invention, the purposes of genetic test and accurate medication intelligent reporting system

The purposes of this system is that genetic test and accurate medication report are provided for clients such as hospital or patients.For example, for For Drug-gene pair " allopurinol-HLA-B ", because of this common treatment gout drug of allopurinol, adverse reaction with Can the significant correlation of HLA-B*5801 routinely use allopurinol for patient with gout, and hospital can entrust genetic test company to examine Survey whether the patient carries HLA-B*5801.If genetic test result is not carry HLA-B*5801, it may be considered that using normal The allopurinol treatment scheme of rule；And if genetic test result is to carry HLA-B*5801, which is carried out using allopurinol The risk that toxic side effect occurs when treating is higher, and doctor then can adjust therapeutic scheme in conjunction with clinical practice.

Two, the prior art before heretofore described system development

In the prior art, initially entirely from genetic test to providing the process of report all by being accomplished manually.Specifically It is to do experiment to obtain corresponding experimental result file after laboratory technician receives corresponding experiment sample, laboratory technician simultaneously also can be staying A part of sample to be examined deposited is fed back to genetic test company.Laboratory technician is after doing experiment and obtaining testing result, testing result Data analysis portion is issued, data analysis portion member obtains genotype and then manually determining these testing results, then provides Report.Result report is generally sent to laboratory technician by modes such as mails by data analysis portion later, then by laboratory technician by result It prints to related doctor.Because laboratory technician can may not do experiment, but can not learn reason, thus genetic test company also sets It is equipped with technical support department, further to verify cause and effect.Because these work almost all are by people in the prior art Work is completed, and is usually all hair postal between " technician/laboratory technician ", " technical support department member " and " data analysis portion member " Part links up file and data, will lead between each staff information flow so not in time, and the subjective judgement of people's naked eyes is very It is limited.It is subsequent have corresponding system is developed to some of which step in patent document part steps is made to be able to automate At, but these are based not on " Drug-gene pair " project management techniques in the prior art, also with regard to generally can not all carry out automatically Knowledge on drug abuse information Auto-matching, report template Auto-matching and pending report automatically generate.Therefore, it is necessary to develop for this field A kind of new genetic test and accurate medication intelligent reporting system.

Three, in the present invention, genetic test and the accurate general process for using of medication intelligent reporting system

1, hospital laboratory gives detection request slip, sample (such as blood) and the sample information of receiving inspection using this system The first user role " laboratory technician ", laboratory technician will first receive in inspection information input system, then genetic test experiment is done under line, he The experimental result of genetic test is fed back into system, system automatically parses testing result.It is usually first after parsing Kind of situation: system is determined as " readable ", i.e. result " qualification "；Second situation: system is determined as " suspicious ", i.e., result " does not conform to Lattice "；Content other than system convention is just shown as suspicious；And the third situation: system can not determine, be shown as at this time Equal pending datas.

Wherein, after laboratory technician finishes genetic test experiment offline, upload result it is previous as first typing " sample in systems The contents such as information ", " patient information " and " project information "；It will test result after typing necessary information to upload in system.

It 2, the use of second of user role of this system is " technical support user ": user's special disposal these " suspicious " The reason of problem.Its experience and level generally can be than laboratory technician Geng Gao.Such as " suspicious " problem includes yin ginseng, not right, the nothing of sun ginseng Method matching.General technology can be there are three types of result after supporting user's processing: determining that testing result is qualified, determines that testing result is unqualified And laboratory technician is required to examine again, determine that testing result is unqualified but cannot test again, moves back inspection.

3, the use of the third user role of this system is " data analyze user ": he is handled for report.It can be with Say that it is more senior, more more advanced than " technical support user ".

4, in conclusion laboratory technician is finished after experiment under line result feedback into this system, a kind of situation is system Automatically after parsing to the testing result of detecting instrument, system is determined as " readable ", and system automatically determines as a result, system later Automatically pending examining report is provided.Another situation is that after system automatically parses the testing result of detecting instrument, Be determined as it is suspicious, then by " technical support user " and " data analyze user " jointly Lai artificial definitive result.Later system from It is dynamic to provide pending examining report." data analyze user " can be by or not pass through in audit report.If two Auditor passes through, then forms final genetic test and accurate medication report.In addition, system is except interpretation is " readable " and " can Doubt " other than, it goes back some results system and does not judge.In the case where this minority, result can be manually filled out without system.

Specifically, no matter in which, if system differentiates unqualified, system is determined as " suspicious " state, display " place in stage In reason ".It goes to handle Deng " technical support user ", is " readable " after processing, " examining again " and " moving back inspection " three kinds of situations, wherein " examining " again When, it generally requires and fills in reason.After " technical support user " processing, which is shown as " solution ".If " number According to analysis user " think that the processing result of " technical support user " and opinion are correct, then receive and select to fill out corresponding testing result (genotype).If " data analyze user " does not receive the opinion of " technical support user ", this message becomes " suspicious " again State.In addition, the 4th kind of user role using this system is " administrator ".The groundwork of " administrator " is in system Information is safeguarded that the information in system includes gene information, Drug-gene pair project information, gene loci information, report Template Information, detection method information, detection classification information, sample status information, sample type information, drug information and technology are flat The information such as station information.Wherein for example it is arranged and edits the reference and bibliography in the template reported, administrator can That wherein " reference " will be set as that specific reference content can be listed, and " bibliography " is set as only listing the text of reference Part title.

5, after genetic test report is finalized a text, laboratory technician downloads it and is issued to client, such as the doctor of hospital.

Four, using the beneficial effect of genetic test of the present invention and accurate medication intelligent reporting system

1, system of the invention completely solve in the prior art file conveying and receive not in time, file transmission and storage The problem of being easy to appear careless mistake, and solve simple manually naked eyes interpretation result and be easy to appear large labor intensity, easily go out Wrong and objectivity deficiency problem.The punctuality of report in the present invention is substantially improved, such as laboratory technician will test result upload To system, after system interpretation, it can generate within one two minutes and accurately report and print.

It 2, include " Auto-matching module " that system Auto-matching and interpretation laboratory technician are uploaded in present system Genetic test is as a result, and general interpretation result is readable or the suspicious, " medication that readable result can directly by including in system Knowledge information Auto-matching module " matches corresponding knowledge on drug abuse, and system provide automatically for data analysis user's audit " to Audit " report.So that there is the considerable accurate medication amount of reporting to replace artificial, report by machine substantially in sample to be examined The speed provided is fast, and accuracy is higher.

Embodiment 2

As shown in Figure 1, embodiment 2 is the comprehensive of the genetic test intelligent reporting system of the accurate medication of guidance of the present invention Detailed structure chart.

It can be seen from figure 1 that the present invention provide it is a kind of for instructing the genetic test intelligent reporting system of accurate medication, the system System includes information management module (1) and information analysis and processing module (2), the information management module include Drug-gene pair item Mesh information management module (149), knowledge on drug abuse library information management module (150), backlog information management module (151), sample This type information management module (152), drug information management module (153), experimental file information management module (157), gene Information management module (146), gene loci information management module (147), sample state information management module (148), data word Allusion quotation information management module (159) and report template information management module (160), the information analysis and processing module (2) include Information Auto-matching module (21) and sample information processing and analysis module (256), and the information Auto-matching module (21) It is automatic including experimental file information Auto-matching module (254), gene information Auto-matching module (258), knowledge on drug abuse information Matching module (261), report template Auto-matching module (262), pending report automatically-generating module (255).

In the present invention, the main purpose of setting information management module 1, which is to provide data, allows system to select and match.This hair In bright, Drug-gene pair project includes drug moiety and Gene Partial, the matched gene difference of same drug then resulting project Difference, resulting project is not also identical when the matched drug difference of syngeneic, one corresponding based on a project in this system The principle Auto-matching relevant information and reading relevant information of Drug-gene pair.

By drug and gene association in Drug-gene pair project information management module, the two matching just forms Drug-gene pair Project, for a variety of different projects of system Direct Recognition.Gene is only detected in the prior art, generally by individual gene shape At project, and drug and gene matching are got up to form Drug-gene pair in system of the invention, which reduces many people Work discrimination, can be directly by system identification.

The Drug-gene pair project information includes 5-FU-DPYD, 5-FU-MSI, 5-FU-MTHFR, 5-FU-TP, 5-FU- TYMS, the area Aldoforwe ester-HBV-P, alfentanil-CYP3A4, alfentanil-CYP3A5, Aripiprazole-CYP2D6, Ah are mould Element-GATP1.GSTM1, platinum class-GSTP1, rifampin-NAT2, warfarin-CYP2C9.VKORC1, aspirin-COX1, chlorine pyrrole One of Gray-CYP2C19, folic acid-MTHFR or a variety of.

In project of the invention, most Drug-gene pair projects are all a kind of corresponding gene of drug, such as above-mentioned 5- FU-DPYD, 5-FU-MSI, 5-FU-MTHFR, rifampin-NAT2, aspirin-COX1, clopidogrel-CYP2C19 etc..? The example for thering is a kind of drug to correspond to multiple genes, for example, drug warfarin and gene C YP2C9 and gene VKORC1.There are also one kind The example of the corresponding gene of drug, for example, anthracene nucleus medicament and gene TOP2A (mRNA)；Either aromatic series anti-epileptic class Drug and gene HLA-B.

Knowledge on drug abuse library information management module (150) is used to increase newly using the user of system and/or editorial management is used Medicine knowledge base information, knowledge on drug abuse library information are used to obtain and the gene for system is automatic before providing genetic test report The knowledge on drug abuse information that testing result matches；

The backlog information management module (151) is used to consult and be handled under its responsibility using each user of system Every backlog；All types of user for system recognizes which the backlog of oneself has at a glance.Facilitate user It is autonomous distinguish and it is bright know which work should the completion at which, and provide and conveniently enter what system place to go science and engineering was made Channel.

The sample type information management module (152) carries out for biological sample type information of the user to genetic test Newly-increased and/or editorial management；The sample type information includes DNA, FTA card, PCR product, punctures marrow, is puncturing tissue, quiet Arteries and veins blood, anticoagulation cirumferential blood, buccal swab, paraffin organization, hydropericardium, flesh tissue, Pleural effusions, pleural effusion, blood plasma and blood It is one of clear or a variety of.

Information of the drug information management module (153) for user couple therapeutic agent relevant to genetic test carries out Newly-increased and/or editorial management；Drug in the drug information includes 5-FU, α receptor blocker, beta-blocker, A Defu Wei ester, alfentanil, Aripiprazole, adriamycin, amitriptyline, Anastrozole, aspirin, Atorvastatin, Azasetron, One of Conmana, esomeprazole, eslicarbazepine, Amlodipine, Ondansetron, Oxcarbazepine, clopidogrel or It is a variety of.

The experimental file information management module (157) is newly-increased for user and/or arranges the experiment of storage in systems The file information, in the experimental file comprising using detecting instrument by testing the testing result file detected under line；It is described Experimental file information management module 157 is mainly used for that laboratory test results file is left concentratedly and managed.The present invention mentions The system of confession leaves experimental file concentratedly, occurs experimental file never again and loses, is ignored, being held off processing and can not trace back The problems such as source.

The gene information management module (146) gene information involved in system is increased newly for user and/or Editorial management；Gene in the gene information include the area HBV-BCP, the area HBV-P, HBV- pre-core region, 21 genes, ABCG2, One of ACE, ADRB1, ADRB2, AGTR1 or a variety of.

The gene loci information management module (147) carries out gene loci information involved in system for user new Increasing and/or editorial management；The gene loci includes the corresponding site CYP2D6*10 (C188T) of gene C YP2D6, CYP2D6*5 (del) and CYP2D6*14 (G1846A) and gene " area HBV-BCP " and " area HBV-P " corresponding gene loci HBV-BCP Area (A176ZT), the area HBV-BCP (G1764A), the area HBV-P (V173L), the area HBV-P (M204V/1/S), the area HBV-P (M250V), the area HBV-P (N236T), the area HBV-P (A181V/T), the area HBV-P (S202G/I), the area HBV-P (I169T), HBV-P One of area (T184A/G/1/S) is a variety of.

The sample state information management module (148) carries out sample status information involved in system for user new Increasing and/or editorial management；The sample status information include humidity, mildew, blood coagulation, dyeing, haemolysis, normally, tissue mass lack in It is one or more.

The data dictionary information management module (159) carries out data dictionary information involved in system for user new Increase and/or editorial management, the data dictionary information include detection method information, detection technique platform information and testing goal class Other information；The detection method information include DNA extracting/ARMS-PCR, DNA extracting/PCR amplification/gene sequencing, RNA extracting/ One of reverse transcription quantitative fluorescent PCR, RNA extracting/reverse transcription quantitative fluorescent PCR, RNA extracting/fluorescence in situ hybridization or A variety of, the detection technique platform information includes pyrosequencing platform, and the testing goal classification information includes medication and body One of inspection is a variety of.

The report template information management module (160) carries out report template information involved in system for user new Increasing and/or editorial management；Report template in the report template information includes common template and personalized template；Preferably for Each Drug-gene pair project contains at least one common template or personalized template.

In addition to system template is arranged in the present invention, personalized template is also set up.In the present invention, in addition to the automatic template of system In addition, multiple personalized report templates can also be set.And system can be suitable in conjunction with going to automatically select as the case may be Report template.For example, some hospitals only need the first page of examining report.Some hospitals do not need the figure in examining report Spectrum or bibliography.Some hospitals need behind genotype plus the word of specific descriptions such as [wild type] [mutation heterozygous] Sample.In this way, system can transfer report template by " report template Auto-matching module 262 " automatically.

The experimental file information Auto-matching module (254) and gene information Auto-matching module (258) are provided commonly for By genotype information Auto-matching, interpretation and the parsing in experimental result file and system；

The knowledge on drug abuse information Auto-matching module (261) is for automatically parsing experimental result file in system System is automatically parsed later pass result or to medication in the knowledge on drug abuse library in the pass result and system being filled in manually Knowledge Auto-matching；

The report template Auto-matching module (262) is used for user's typing sample information and Drug-gene pair project information Afterwards, system is automatically matched to an Initial Report template；

After being automatically parsed to system to experimental result file, the pass result that automatically parsed to system or to artificial The result filled in is automatically matched in Initial Report template by pending report automatically-generating module (255), and is known in the medication Know after information Auto-matching module (261) are matched to relevant administration knowledge information and forms pending report；

The sample information processing and analysis module (256) include that experimental result file is uploaded for user into system Pre-processing module；The sample information processing and analysis module (256) further include carrying out automatically in system to experimental result file The post-processing module of artificial treatment sample information is used for after parsing；

Sample information processing and analysis module (256) be also used to user see at a glance it is relative all All flow nodes states of sample are detected, and detection sample is operated and handled.And it specifically may be configured as a table not The report processing progress that can see all detection samples need to be pulled down.

The post-processing module includes the first unit of " the pending report " that generates for manual examination and verification system, preferably described " first unit " is set as expert user manual examination and verification " pending report " successively different by two, and the expert user includes just Examine expert and review expert.

It is preferred that the post-processing module further includes for being determined as that the result of " suspicious " i.e. " unqualified " makes people to system Work determine, with determine the result whether He Ge second unit；

" post-processing module " further include for use other users of the system be manually determined as " close The result of lattice " carries out manual review, to check whether the result is subjected to, and when review is subjected to for result, fills out for choosing " third unit " of one genotype results into system.

The structure of this system is discussed in detail in sub-module below.

One, " Drug-gene pair information management module 149 "

For example comprising 110 a plurality of gene informations and when more than 170 kinds of drug informations in system, by a gene or a plurality of gene Drug-gene pair project is formed with a kind of drug or a kind of drug matching, thus necessarily comprising a variety of " drug genes in system It is right " contents of a project.Such as 5-FU-DPYD, 5-FU-MSI, 5-FU-MTHFR, 5-FU-TP, 5-FU-TYMS, Aldoforwe ester-HBV- The area P, alfentanil-CYP3A4, alfentanil-CYP3A5, Aripiprazole-CYP2D6, adriamycin-GATP1.GSTM1, platinum class- GSTP1, rifampin-NAT2, warfarin-CYP2C9.VKORC1, aspirin-COX1, clopidogrel-CYP2C19, folic acid- MTHFR etc..

Drug and gene-correlation, the two matching just form Drug-gene pair.

Gene is only detected in the prior art, and drug and gene matching get up to form drug gene in system of the invention Right, which reduces many artificial discriminations, can be directly by system identification.It may be corresponded to previous gene a variety of not true Fixed drug, as soon as and drug may also correspond to many uncertain genes, this needs to expend many artificial energy It distinguishes.

Drug-gene pair entry example in the present invention:

Project 1: representing first Drug-gene pair, such as: 5-Fu-MSI, wherein 5-Fu is drug 5-Fu (fluorouracil)。

Project 2: second Drug-gene pair is represented, such as: 5-Fu-DPYD.

Project 3: representing third Drug-gene pair, such as: 5-Fu-TP.

Project 4: the 4th Drug-gene pair is represented, such as: aspirin-COX1.

Project 5: the 5th Drug-gene pair is represented, such as: Irinotecan-UGT1A1.

Project 6: the 6th Drug-gene pair is represented, such as: clopidogrel-CYP2C19.

Project 7: the 7th Drug-gene pair is represented, such as: sufentanil-CYP3A4.

Two, " knowledge on drug abuse library information management module 150 "

The module is used to provide for system and genotype (the qualified genotype results or system that system Auto-matching goes out Auto-matching be it is suspicious after the qualified genotype results that manually determine) matched knowledge on drug abuse automatically selects and matches by system.

For example, there are two types of specific medication suggestions: one is the trouble for this Drug-gene pair project of 5-FU-DPYD The risk that toxic side effect occurs when using 5-FU for person is higher, appropriate adjustment dosage or modification therapeutic scheme.Second is this Patient can use 5-FU according to conventional scheme.And for this Drug-gene pair project of 5-FU-MSI, specific medication suggestion There are three types of: the first is that patient's microsatellite stablizes (MSS), can be benefited from the adjuvant chemotherapy of 5-FU.Second is the trouble Person's microsatellite minuent is unstable (MSS-L), can benefit from the adjuvant chemotherapy of 5-FU.The third is patient's microsatellite height Unstable (MSS-H) cannot benefit from the adjuvant chemotherapy of 5-FU.

When managing knowledge on drug abuse depositary management, such as newly-increased medication advisory information, for this drug of Ta Mopufen-CYP2D6 Gene pairs project, it is necessary to which medication suggestion is provided to the testing result combination of three gene locis of project subordinate.Such as CYP2D6*10 (C188T), corresponding CC- wild type or CT- are mutated heterozygous, and CYP2D6*5 (del) corresponds to non-deletion type, CYP2D6*14 (G1846A), corresponding GG- wild type.Corresponding medication suggestion is that " patient's CYP2D6 metabolic pattern is EM, can be with Ta Mopufen " is used according to conventional scheme.

When managing knowledge on drug abuse depositary management, medication suggestion is filled in, the inspection for each related locus for being applicable in the medication suggestion is filled out in choosing Survey result combination (testing result in site is sky, then is equal unknown or does not detect).

In the present invention, knowledge on drug abuse library information management module 150 is used for the medicine of each testing result of user management projects Meaning, the medical significance include but is not limited to medication suggestion and health examination conclusion, and medicine is anticipated when generating for examining report The matching of justice, intelligentized Auto-matching reduce mistake when being filled in manually, unified and standard medical significance, follow-up in real time and Periodic update mechanism, prevented because personal experience and information content it is different caused by it is not rigorous, lack of standardization.

Three, " backlog information management module 151 "

In order to enable " backlog information " of every user can be very clear, system can generally show every in homepage " pending list " information of user.Such as some time point, after the account login system of administrator, in the " pending of homepage Display in list ": the sample number to " urgent processing " is 342, and the sample number of " to be modified " is 9, the sample number of " moving back inspection " It is 3, the sample number of " examining again " is 56, and the sample number of " to be downloaded " is 51, and the sample number of " site is suspicious " is 11, to The sample number of " modification application " is 1, and the sample number of " it fails to match in site " is 3, the sample number of " medication suggestion is not found " It is 0, the sample number of " suspicious to have replied " is 0, and the sample number of " pending " is 55.

The either system user of which kind of role, for example, " laboratory technician ", " technical support user ", " data analyze user " and " administrator " user can have its corresponding do list.

Specifically, the backlog information management module (151) includes urgent processing unit, unit to be modified, moves back inspection Unit examines unit, unit to be downloaded, the suspicious unit in site, modification application unit, it fails to match in site unit, medical significance again Unit is not found, suspicious has replied unit and pending nuclear unit this 11 units.Backlog information management module of the present invention (151) in system home page can real-time display meet the sample information quantity of demand, each label of lower 11 units is directed toward Corresponding target pages, can one key access, thus realize quickly, efficiently enter target pages, save the time.

Four, " sample type information management module 152 "

The sample type information includes DNA, FTA card, PCR product, punctures marrow, is puncturing tissue, venous blood, anticoagulant outer This 15 kinds of samples of all blood, buccal swab, paraffin organization, hydropericardium, flesh tissue, Pleural effusions, pleural effusion, blood plasma, serum Type.

Five, " drug information management module 153 "

For example comprising more than 170 kinds of drug informations in system.Such as 5-FU, α receptor blocker, beta-blocker, adefovirdipivoxil Ester, alfentanil, Aripiprazole, adriamycin, amitriptyline, Anastrozole, aspirin, Atorvastatin, Azasetron, angstrom Gram for Buddhist nun, esomeprazole, eslicarbazepine, Amlodipine, Ondansetron, Oxcarbazepine, clopidogrel etc..

Six, " experimental file information management module 157 "

Experimental result file is all to be packaged to be placed in its USB flash disk or computer by laboratory technician, then pass through mail, QQ in the prior art It is sent it at data analyst etc. common internet channel, is used to form examining report.It is easy to cause loss " experiment in this way File ", thereby increases and it is possible to cause recipient that cannot consult in time.And in the present invention, laboratory technician finish experiment after it is automatic by sequenator The experimental file (experimental result file) of generation will upload in system of the invention.Therefore, file is no longer lost, but also literary Part recipient can be consulted with most fast speed and handle associated documents, and make the tractability of this document more preferable, such as the several years Preceding experimental file can also be easily found by the system, and never again because the urgent processing of sample and laboratory technician leave office etc. Reason and cause the preservation of file uncontrollable factor occur.

In specific operation, laboratory technician first selects obtained experimental result file, reselection " doctor belonging to experimental file Institute ", then click " upload " and the experimental file can be uploaded in system.The affiliated hospital of experimental file is for example are as follows: Chinese people PLA General Hospital (301 Hospital), tumour hospital, Peking University, First Attached Hospital, Anhui Medical Univ., the Ji medicine of Changsha three Inspection institute, No.1 Hospital Attached to Harbin Medical Univ., Huludao City central hospital, the attached tumour of Xiangya Medical College, Zhongnan Univ Hospital (Hunan Provincial Tumour Hospital) etc..

The filename of experimental file: a sample to be tested is general before carrying out genetic test in being loaded to gene sequencer It is just named, but before experimental result is uploaded to system, laboratory technician freely can also carry out filename modification to it. In this system, successor is usually exploitation this system and is carried out using each hospital is sent to outside the genetic test company of this system on file The laboratory technician of gene sequencing experiment.Specifically, laboratory technician is first in systems " newly-increased sample information ", then genetic test reality is done under line Experimental result is tested and obtains, such as 4 hours time-consuming；Then in systems " newly-increased experimental result file ", system is automatically right later The experimental result file of upload is parsed.System user can download " experimental file " in time.

In systems, it clicks " experimental file " Modules button and enters experimental file administration interface, the page is with experimental file The form of list shows experimental file information according to set ordering rule, and provides some operations based on experimental file.It is " real Test file management " in have newly-increased, search and refresh button, be respectively as follows: the newly-increased experimental file of click；After clicking search, Ke Yixuan Keyword is selected, and condition is set, screening meets the experimental result file of corresponding conditions；It clicks and refreshes the current list." newly-increased experiment When destination file ", " select file " button is clicked, in the dialog box of pop-up, according to depositing for the experimental result file of quasi- upload Path is stored up, the experimental result file for needing to upload is found, the addition of experimental result file is completed after opening.Experiment knot is clicked again The ownership hospital of fruit file.The upload that " upload " button completes the experimental result file added is clicked, system is immediately to upload Experimental result file parsed, to obtain the corresponding genotype of experimental result file.Legal experimental result Document analysis success, shows in experimental file list, and file status is normally to parse, the experimental result file normally parsed, System is by Auto-matching, interpretation.It is not inconsistent experimental result document analysis failure normally, is shown in experimental file list, text Part state is that file is abnormal, abnormal experimental result file, and system can not automatically parse, match, interpretation, needs clear reason, It is uploaded again after modification.The work is still completed by the laboratory technician of " newly-increased sample information " and " newly-increased experimental result file ".

In " the experimental file list " of " experimental file management " by way of list show filename, upload the date, File status (file abnormal, normal parsing), the upper information such as pass on a skill of craft to others, whether download, and have the operation button of " downloading ".

Seven, " gene information management module 146 "

For example comprising 110 a plurality of gene informations in system.Such as gene (area HBV-BCP), (area HBV-P), (C before HBV- Area), 21 genes, ABCG2, ACE, ADRB1, ADRB2, AGTR1 etc..

Eight, " gene loci information management module 147 "

Because a gene can correspond to multiple sites, in system for example comprising 110 a plurality of gene information when, in system for example Include totally 250 a plurality of gene loci information.Such as corresponding three sites gene C YP2D6: CYP2D6*10 (C188T), CYP2D6*5 (del),CYP2D6*14(G1846A).Such as gene " area HBV-BCP " and " area HBV-P " corresponding gene loci title: HBV- The area BCP (A176ZT), the area HBV-BCP (G1764A), the area HBV-P (V173L), the area HBV-P (M204V/1/S), the area HBV-P (M250V), the area HBV-P (N236T), the area HBV-P (A181V/T), the area HBV-P (S202G/I), the area HBV-P (I169T), HBV-P Area (T184A/G/1/S) etc.." gene loci " information is in newly-increased or editor, wherein " remarks " field corresponds to the reference in the site Sequence, mutated site (base) are bracketed with { }.

Nine, " sample state information management module 148 "

Sample status information in system for example including humidity, mildew, blood coagulation, dyeing, haemolysis, normal, tissue mass it is few this 7 Kind state.

Ten, " data dictionary information management module 159 "

Detection method information: for example have DNA extracting/ARMS-PCR, DNA extracting/PCR amplification/gene sequencing, RNA extracting/ Reverse transcription quantitative fluorescent PCR, RNA extracting/reverse transcription quantitative fluorescent PCR (SYBR-Green dye method), RNA extracting/fluorescence are former This five kinds of position hybrid method (FISH).

Testing goal classification information: being, for example, medication, physical examination.

In the present invention, most projects involved in system are all the Drug-gene pair project on practical significance, i.e. institute Stating Drug-gene pair project includes a kind of or a kind of drug and one or more genes.But also there is a few items purpose testing goal to be Physical examination, wherein not being related to medication.At this point, being somebody's turn to do " Drug-gene pair project " with regard to derivation at " disease gene is to project ".

Such as hepatitis B patient wonders whether it has canceration risk, this is just related with STAT4 gene loci, such as gene position It is GG, GT or TT that point, which detected,.Disease gene described in this system is to for " hepatitis B canceration risk-STAT4 ".If gene loci Testing result is GG- wild type, then it is high risk that hepatitis B canceration risk, which occurs, for corresponding hepatitis B patient；Gene loci detection knot Fruit is GT- mutation heterozygous, then it is normal risk that hepatitis B canceration risk, which occurs, for hepatitis B patient；Gene loci testing result is TT- Mutated homozygous, then it is compared with low-risk that hepatitis B canceration risk, which occurs, for hepatitis B patient.Therefore, after doctor sees the report of the system, Patient, which takes some precautionary measures, to be suggested for hepatitis B canceration high-risk patient, such as prohibits and drinks.

Preferably, the Drug-gene pair item in system of the present invention in Drug-gene pair project information management module 149 Mesh and disease gene are 20 or more to the total quantity of project, preferably at 60 or more, more preferably at 150 or more.

Detection technique platform information: being, for example, pyrosequencing platform.

11, " report template information management module 160 "

Report template information: having multiple report templates inside system, such as various personalized templates (such as each hospital requirements Template), also have generate common template rule.The corresponding project name of report template is for example respectively as follows: platinum class-GSTP1,5- FU-DPYD, rifampin-NAT2, hepatitis B canceration risk-STAT4, hepatitis B canceration risk-HLA-DQ, warfarin- CYP2C9.VKORC1, aspirin-COX1, clopidogrel-CYP2C19 etc..

Specifically when managing the Template Information of examining report, such as when " newly-increased " template, first selected in filling in frame quasi- new The template of increasing belongs to hospital, and filling in after project name is filled in frame intends the newly-increased corresponding project of template, then clicks upload " select file " button at template rear finds corresponding template according to the store path of the template of quasi- upload, clicks " submission " and presses Button is completed template and is uploaded.

12, " sample information processing and analysis module 256 "

User mainly includes increasing, manage and searching for several newly to the processing of sample information.Wherein, it increases newly: clicking newly-increased one Item record is sample information.Management: the sample information chosen is managed, including checks, edit, audit.Search: it clicks Afterwards, it can choose keyword, and condition be set, screening meets the sample information of corresponding conditions.For example, " sample information management field The title respectively arranged in " sample list " in face " be respectively " encoding samples ", " receive inspection laboratory ", " receiving inspection people ", " when receiving inspection Between ", " report time ", " suspicious state ", " file matching status ", " gene matching status ", " knowledge on drug abuse matching status ", " audit state ", " report state " and " operation ".Each flow state illustrated in table 1 in " sample list ".

Table 1

And " sample list " example such as table 2 of specific " sample information administration interface ".

Table 2

Wherein, encoding samples: there is the coding on the sample pipe for the sample (such as blood sample) that laboratory technician receives.File matches shape State: the matching status of sequencing result file.Specifically there is waiting for the start, be partially completed and be fully completed three kinds of situations.System can be certainly The experimental result that dynamic parsing laboratory technician uploads belongs to any in above-mentioned three kinds of situations, such as a total of 3 files need to examine It surveys, has completed 2, then situation is shown as " being partially completed ".Gene matching status: also comprising waiting for the start, be partially completed and It is fully completed three kinds of situations.It is " being fully completed " state if corresponding 5 genotype of 3 files all parse. Knowledge on drug abuse matching status: also include waiting for the start, be partially completed and be fully completed three kinds of situations." file matching status ", " base Because of matching status ", " knowledge on drug abuse matching status " this three work generally can be soon automatically performed by system, front and back may be only Differ several seconds, or almost this three provide result simultaneously.Audit state ": including " waiting pending ", " in first trial ", " in review " Or states such as " completing audit ".System is provided with the auditor that two are independently audited to carry out " suspicious " result of system interpretation Manual examination and verification.States such as " application modifications ", " submitting modification ", " examination & approval modification " and " downloading " are likely to occur under " operation ".For example, Laboratory technician find patient name wrongly write, at this time cannot voluntarily arbitrarily change in systems, and need submission " application is repaired Change ".

Specifically, the bottom left of " sample information " administration interface is provided with " newly-increased ", " management ", " search " and " brush Newly " four units.Wherein, " newly-increased " refers to newly-increased " sample information ", " management " refer to artificial interpretation to " sample information " and Management.In the present invention, pass through the result of system automatic interpretation laboratory technician upload first.System interpretation be " qualification ", then system oneself It is dynamic to generate pending examining report.But there is partial picture, system interpretation is " suspicious ", i.e. system can not parse always knot Fruit then needs manpower intervention to carry out interpretation at this time, makes up the loophole in a manual manner.Therefore it is related to the people to " sample information " Work processing and analysis, at this time enter " management " unit, carry out artificial interpretation and management to " sample information ".Certainly, manually may be used To be managed to any sample information.The example of artificial interpretation and management: the first situation is, according to system convention sheet Body is difficult to the case where interpretation, and second situation is, when system goes wrong suddenly, can be managed with manpower intervention.Such as: System can not differentiate when " sun ginseng Quality Control is unqualified ", but can manually be determined.At this time at " suspicious ", it may appear that " readable ", " examining again " and " moving back inspection " three selections." technical support user " processing system can not automatic discrimination all " suspicious " Sample.The corresponding map for the testing result file that technical support user obtains according to system, by artificial cognition, " can Read ", determine an option in " again examine " and " moving back inspection ".

In above-mentioned " management " unit, mainly specifically include to " sample information ", " patient information ", " project information ", " its His information ", " report audit " management.Compared to " newly-increased " unit, the management to " report audit " is increased.

Required item in " sample information " has: sample unique number, sample reception date, report due date, sample class Type (such as anticoagulation cirumferential blood, venous blood), sample state (such as normal, blood coagulation, haemolysis), sample testing method (such as DNA extracting/ PCR amplification/gene sequencing), pattern detection classification (medication, physical examination), Shou Jian hospital/joint laboratory, project be responsible for technician, Technology platform (pyrosequencing).

Required item in " project information " has: project one: detection project (5-FU-DPYD), drug (5-FU), gene (DPYD), gene loci (DPYD*2 (IVS14+1G > A)).

And project two is that laboratory technician increases newly according to the actual situation mostly, not all situation will have project two. Project two: detection project (5-FU-TYMS), drug (5-FU), gene (TYMS), gene loci (TYMS (3 ' areas UTR, 6bp del))

It accordingly fills in and manages in " patient information " and " other information ", such as patient information contains name, age, outpatient service number Etc. contents, and " other information " includes the information such as " inspection hospital ", " technology platform ".

The operation of " report audit " specifically: be determined as the sample of " readable " for system, automatically formed in system " pending After report ", into the project in first trial or review stage energy point " audit " button, audit includes first trial and review, the two steps Rapid is typically all to be completed by " data analyze user " this expert.It is determined as the sample of " suspicious " for system, in " technology branch Hold user " after artificial treatment, he agrees or disagrees with the interpretation information of system, he determines in " readable ", " examining " and " moving back inspection " again A fixed option.The content of " readable " is submitted at " data analyze user ", and data analysis user first completes every in pending report The audit of one page of content enters back into audit opinion and fills in the page, and the page can show audit logging always, and data analyze user's root Audit opinion is filled according to auditing result, it is final to click " passing through " or " not passing through " submission audit conclusion.Then, enter after first trial Review forms Final Report to be downloaded after review.

13, " experimental file information Auto-matching module 254 and gene information Auto-matching module 258 "

In the present invention, in addition to a key can see what state each experiment sample is currently in.As shown in table 2, moreover, The testing result situation of each experiment can be particularly seen at each sample.

The information of some experiment sample is opened, " project name ", " detection type ", " project status " is shown and " medication is known Know library ".Such as project name " it is " folic acid-MTHFR ".In " project name ", divide into " state ", " site title ", " RSID ", " affiliated hole location ", " Gene Name ", " Gene ID ", " testing result sequence ", " testing result description ", " detection knot Fruit ".Such as it is shown in Table 3.

Table 3

It is the laboratory test results of corresponding 8 samples of five kinds of different " Drug-gene pairs " in table 3.In laboratory technician upper Pass experimental result before first choose " Drug-gene pair " after, in table 3 in addition to " testing result sequence ", " testing result description ", Other than " testing result " this three column information, and " affiliated hole location " this column information, other information systems all can Auto-matching go out Come.This only above-mentioned four column information, which needs equal laboratory technicians to will test after result uploads, to be come out by system Auto-matching.

In the present invention, " experimental file automatic interpretation and analysis module " and experimental file information Auto-matching mould is specifically included Block 254 and gene information Auto-matching module 258.

About experimental file information Auto-matching module 254:

Such as some experiment information management and system convention include following content.Experiment number (No. PS) is PS00102, base Because of entitled CYPSC19, the entitled CYPSC19*3 in site (G636A), analytical sequence GG/AATCCAGGTAA are loaded sequence For CGATCAGT, direction is sequenced and is positive survey, mutation type SNP.Experimental series details include: that serial number is respectively 0,1,2 and 3, Position is respectively 1,2/3,4 and 6, and type is respectively internal reference position, mutated site, peak positions and peak positions.

And the management of another experiment information and system convention include following content.Analytical sequence is CC/ TGGGAAATAATCAATGA, sample-adding sequence are GCTGATAT, and sequencing direction is anti-survey, mutation type SNP.Experimental series are detailed Feelings include: that serial number is respectively 0,1,2 and 3, and position is respectively 1,2/3,6 and 8, and type is respectively internal reference position, mutated site, list Peak position and peak positions.

Wherein, SNP is the abbreviation of single nucleotide polymorphism.SNP is primarily referred to as at the genomic level by single nucleotide acid Variation caused by DNA sequence polymorphism.It is one of the most common type in human heritable mutation.It accounts for all known polymorphic 90% or more of property.SNP is widely present in human genome, just has 1 in average every 500~1000 base-pairs, estimation Its sum is even more up to 3,000,000.

When according to system convention Auto-matching, for example including the Quality Control to yin ginseng and sun ginseng, its internal reference position is specifically included It sets, mutated site and two peak positions are respectively necessary for that condition met.Such as the internal reference position peak Bu Yingqi of yin ginseng, no There should be signal value；Yin ginseng peak positions need lower than sample correspond to peak positions percent how much, perfect condition is negative ginseng Peak positions also without signal；Meeting the two conditions, then yin refers and synthesizes lattice.Such as the signal value of the internal reference position of sun ginseng wants low Percent in its peak positions signal is how many, such as 10；Correspondence peak positions of the peak positions of sun ginseng than yin ginseng Signal want it is high how many just calculate it is qualified；It is filled out in program when whether the genotype that system judges sun ginseng again is sequenced software with design Genotype it is consistent；Meeting these conditions, then sun refers and synthesizes lattice.In addition, according to system convention to experiment information Auto-matching when, also Quality Control need to be done to sample.Specifically, the internal reference position of sample is lower than the signal value of the peak positions of sample, specific low how many calculation Qualification, customized by the administrator of system, perfect condition is that the internal reference position of sample should not have signal.Wherein, number (PS is tested Number) unique sequencing program is represented, after No. PS determines, internal reference position, mutated site and peak positions are all determining.

It is that system is automatically performed the work of experiment information Auto-matching according to these above-mentioned rules.Experiment information is completed in system After Auto-matching work, and it is qualified and then the automatic of gene loci is cooked by " the gene information Auto-matching module " of system Match work.

About gene information Auto-matching module 258:

Such as some gene loci result management and system convention include following content.In the management of gene loci result Appearance includes: that Gene Name is ABCG2, the entitled ABCG2 in site (C15622T), and No. RSID is rs7699188, detection knot Infructescence is classified as GGTGG { C } GCA, testing result CC, and testing result is described as CC_ wild type.Its system evaluation result rule packet Include: judging sequencing point is C, and judges mode is threshold value, and the sequencing point is judged as CC when specifically threshold value is more than or equal to 85.

In another example the management of another gene loci result and system convention include following content: the pipe of gene loci result Reason content includes: the entitled ABCG2 of gene loci (C421A), and gene loci sequence (No. RSID) is rs2231142, detection As a result tract be ACTTA { C/A } AGT, testing result CA, testing result be described as CA_ mutation heterozygous.Its system is judged As a result rule includes: to judge sequencing as G, and judge mode is section, and specifically threshold value minimum is 35 and peak is 65, I.e. threshold value is between 35~65 the constantly sequencing point and is judged as CA (anti-to survey).

Wherein " testing result sequence " is to intend increased site result corresponding sequence, and mutated site (base) has been included with { } Come." testing result " is to intend the genotype of increased site result, and " testing result description " is the description explanation to the genotype. " result rule " is partially regular comprising intending the corresponding judge of genotype of increased site result.Wherein, " judging sequence of points " is For judging the base of the genotype, which is automatically associated in " the experimental series details " of " experiment information " subordinate " type " For the corresponding base of mutated site." judge mode " is the mode for selecting to judge the base, there is threshold value and two kinds of section mould Formula, subsequent threshold operation, threshold value, minimum, peak are the indexs with judge pattern association.

4 are shown in Table correspondingly, showing to the content interface of experiment information management.Wherein, each " site title " only one " experiment number ", but one " experiment number " can correspond to multiple genes " site title ".

Table 4

5 are shown in Table correspondingly, showing to the content interface of gene loci results management.

Table 5

	Gene Name	Site title	Testing result description	Testing result
					1	ABCG2	ABCG2(C1143T)	CC_ wild type	CC
2	ABCG2	ABCG2(C421A)	CA_ is mutated heterozygosis	CA
					3	ABCG2	ABCG2(C15622T)	CT_ is mutated heterozygosis	CT
4	ABCG2	ABCG2(C1143T)	CT_ is mutated heterozygosis	CT
					5	ABCG2	ABCG2(C421A)	AA_ mutant homozygous	AA
6	ABCG2	ABCG2(C15622T)	TT_ mutant homozygous	TT
					7	ABCG2	ABCG2(C1143T)	TT_ mutant homozygous	TT
8	ABCG2	ABCG2(C421A)	CC_ wild type	CC
					9	ABCG2	ABCG2(C15622T)	CC_ wild type	CC
10	ACE	ACE(I/D)	DD_ mutant homozygous	DD

14, " knowledge on drug abuse information Auto-matching module 261 and report template Auto-matching module 262 "

The content can refer to other module contents in information Auto-matching module 21, but knowledge on drug abuse information Auto-matching Module 261 and report template Auto-matching module 262 respectively with the knowledge on drug abuse library information management module in information management module 1 150 are associated with report template information management module 160, and system Auto-matching passes through information management module management and updated letter Breath.Meanwhile knowledge on drug abuse information Auto-matching module 261 and report template Auto-matching module 262 are also handled with sample information And analysis module 256 be associated with, for artificial treatment system can not Auto-matching the case where.

For example, wherein medication guide, is according to each site testing result and knowledge on drug abuse when managing " project information " Storehouse matching obtains, if each site testing result determines, " medication suggestion is not found " i.e. medication guide is not matched in systems, Can the Edit button in click project directly carry out human-edited's medication guide.Such as " labetalol-CYP2D6 " this " medication suggestion is not found " of Drug-gene pair, then need human-edited's medication guide.

About report template Auto-matching module 262, in general, can be with matching criteria report template or personalized report Template.Report mould according to Shou Jian hospital/joint laboratory, detection project and pattern detection classification field, in selection system Plate.Wherein standardization report template also needs project information part in automatic patching system, gene loci message part, with reference to money Material part, bibliography partial content are formed；The above-mentioned partial content of personalized report template is present in template, is not needed It is matched.Selected report template is matched with sample information, patient information, project information, other information in system, Patient information, interpretation result, test map and medical significance are filled, is generated and is detected by pending report automatically-generating module 255 Report.

The template that there is genetic test report in the prior art is in the form of a single, and not enough, the definition of project is unclear for automation The problems such as clear.This present invention, which can not only realize, quickly provides normalized gene examining report, is also able to satisfy personalized report style Demand.

Generally speaking, compared with prior art, the Fulfill testing report automatically method of accurate medication disclosed by the invention and System has the following beneficial effects: and defines project with Drug-gene pair, can transfer sample in sample management module automatically and believe Breath, interpretation result and test map, medical significance generate examining report, and report template multiplicity, can meet all kinds of personalized need It asks, and is embedded in manual examination and verification process, to ensure the accuracy reported.Automatically generating report largely reduces manually Bring mistake is operated, Analysis of test results is improved and reports the accuracy provided, and the report generated can be automatically sent to Specified mailbox, it is ensured that report the timeliness of granting.

15, " pending report automatically-generating module 255 "

System obtain automatically from other modules (such as information management module 1 and sample information processing and analysis module 256) content that is updated in, save in auto acquisition system with information management module 1 and sample information processing and analysis module Corresponding information in 256.

The title of examining report: be, for example, " Changsha three help the pharmacogenomics genetic test of medical test institute report " or " central hospital, Jingzhou City genetic risk genetic test report ".The essential informations such as name, gender, age are in system " sample information management " module.

Detection gene and result: Fig. 3 is that can the Small Cell Lung Cancer that completed use the drug of drug " Irinotecan " Genomics genetic test report.It is the testing result of " Irinotecan-UGT1A1 " this Drug-gene pair, this inspection in Fig. 3 Survey the result is that after laboratory technician uploads result, system it is qualified after determining automatically as a result, system be determined as automatically it is suspicious Afterwards by determining qualified result after manual review.When system determines automatically, system can transfer automatically this from " dictionary " module " project information " of Drug-gene pair, draws a conclusion further according to genetic analysis.

" project information " content includes: studies have shown that using Irinotecan or the chemotherapy based on Irinotecan When, carry [TA] 6/ [TA] 6 type tumor patient occur the risks of the toxic side effects such as Neutrophilic granulocytopenia, diarrhea or weakness compared with Low, the risk of these toxic side effects of the tumor patient of carrying [TA] 7/ [TA] 7 type is higher, carries the tumour of [TA] 6/ [TA] 7 type The risk of these toxic side effects of patient is between the above two.The genetic test result of the sample is [TA] 6/ [TA] 6 in Fig. 3 Type, thus the conclusion in Fig. 3 is " patient can use Irinotecan according to conventional scheme ".

The genetic risk genetic test report that Fig. 4 is the folate metabolism disorder-MTHFR not yet completed.The examining report is System is automatically found template and shows.The detection method of this detection is DNA extracting/PCR amplification/gene sequencing.

Folic acid is insufficient, will lead to a variety of diseases of pregnant woman and fetus.The study found that participating in the mthfr gene of folic acid metabolism It is related with the generation of pregnant woman and fetal disease with the mutation of MTRR gene.It is high in the crowd of China by taking mthfr gene as an example Up to 17~47% artificial mthfr gene exception crowd.Research confirms that C/T, T/T genotype crowd's MTHFR enzymatic activity obviously drop It is low, obstacle is caused to folic acid metabolism, leads to a variety of birth diseases such as newborn's neural tube defect, Down's syndrome and harelip Onset risk obviously increases.Requiring supplementation with more folic acid for this kind of people can be only achieved desired effect.Therefore, the base in the present invention Because detection and accurate medication intelligent reporting system contain " physical examination project-gene pairs ", examining report can be provided quick, intelligently.

Fig. 5 is the examining report for the toxic side effect risk for taking platinum medicine completed.The corresponding drug of this report Gene pairs is " platinum class-GSTP1 ".Show that the Patient genotype is AA type in figure, testing result shows that the patient takes platinum class medicine The risk of the toxic side effect of object is higher, it should replace drug or turn down dosage.

The examining report of the toxic side effect risk of Fig. 6 is that has completed take another Drug-gene pair of platinum medicine. Drug-gene pair " platinum class-BRCA1.ERCC1 " examining report of drug platinum class and gene BRCA1 and ERCC1, conclusion show the trouble Person can use platinum medicine according to conventional scheme.

16, " information management module 1 "

Each presupposed information when sample information management in information management module 1 for selecting, and is used for information analysis and processing Shi Jinhang matching.

17, " information analysis and processing module 2 "

Information analysis and processing module 2 can carry out multiple experiments with batch for example for user's uploading detection destination file The upload of destination file can carry out the matching of experimental result file ownership mechanism, to realize the Quality Control data inside same mechanism It is shared, and different inter-agency Quality Control data are not shared；System parses experimental result file according to default rule, Abnormal results carry out prompt feedback, normal experimental result file, according to parameter preset in system automatically to experimental data into Row analysis completes Quality Control evaluation, determines testing result, generate corresponding testing result map, and record result corresponding position, side Just result is traced to the source.The testing result and testing result figure music score of generation are such as stored into and sample information processing and analysis module 256 In the project management unit of associated information management module 1.

18, " system configuration management module "

In a kind of preferred mode, the system also includes system configuration management module, the system configuration manages mould For block for each user and log in advanced level user's management system, the system configuration management module includes line module unit, angle One of color modular unit, authority module unit, mechanism module unit and log module unit are a variety of.

The system configuration management module is used to carry out role's setting and rights management to respectively participating in account in operation flow, To ensure smooth, the orderly execution of operation flow, and region participation and pipe can be carried out by role module and authority module Reason, log module record the operation content of each account in real time, it is ensured that the controllability of process and data, safety.The advanced use Family is, for example, administrator.

Embodiment 3

Corresponding to the genetic test for instructing accurate medication of the invention shown in Fig. 1 and embodiment 2, intelligently report is System and working-flow figure shown in Fig. 2, accordingly there are three types of the genetic tests generated for instructing accurate medication by the present invention The method of report.

First method:

The present invention provides a kind of method for being automatically generated for that the genetic test of accurate medication is instructed to report, the method packet It includes using a kind of for instructing the genetic test intelligent reporting system of accurate medication, the system comprises information analysis and processing moulds Block (2), the information analysis and processing module (2) include information Auto-matching module (21) and sample information processing and analysis mould Block (256)；The information Auto-matching module (21) include experimental file information Auto-matching module (254), gene information from Dynamic matching module (258), knowledge on drug abuse information Auto-matching module (261) and pending report automatically-generating module (255) are described Information Auto-matching module (21) is used to the information in system being uploaded to the experimental result file in system with user and carry out certainly Dynamic matching and parsing；The sample information processing and analysis module (256) are used for user and experimental result file are uploaded to system In and after system automatically parses experimental result file be used for artificial treatment sample information；

Described method includes following steps: the first step, user upload real in sample information processing and analysis module (256) Test destination file；Experimental file information Auto-matching module (254) and gene information Auto-matching module in second step, system (258) Auto-matching and judgement then enter in next step if the system determine that being " readable ", i.e. result " qualification "；Third step, system In knowledge on drug abuse information Auto-matching module (261) and pending report automatically-generating module (255) automatically generate it is pending Genetic test report, i.e., pending report；4th step, user the manual examination and verification institute in sample information processing and analysis module (256) It states " pending report ", generates eventually for the genetic test report for instructing accurate medication.

In a kind of specific embodiment, in the 4th step the step of manual examination and verification " pending report " include two not Same user successively audits.

Second method:

The present invention provides a kind of method generated for instructing the genetic test of accurate medication to report, and the method includes making With a kind of for instructing the genetic test intelligent reporting system of accurate medication, the system comprises information analysis and processing modules (2), the information analysis and processing module (2) include information Auto-matching module (21) and sample information processing and analysis module (256)；The information Auto-matching module (21) includes that experimental file information Auto-matching module (254), gene information are automatic Matching module (258), knowledge on drug abuse information Auto-matching module (261) and pending report automatically-generating module (255), the letter Breath Auto-matching module (21) is used to the information in system being uploaded to the experimental result file in system with user and carry out automatically Matching and parsing；Experimental result file is uploaded in system by the sample information processing and analysis module (256) for user And artificial treatment sample information to be used for after system automatically parses experimental result file；

Described method includes following steps: the first step, the first user sample information processing and analysis module (256) on Pass experimental result file；Experimental file information Auto-matching module (254) and gene information Auto-matching in second step, system Module (258) Auto-matching and judgement then enter in next step if the system determine that being " suspicious ", i.e. result " unqualified "；Third Step, second user is handled by sample information and whether analysis module (256) manually determines the result " qualification ", if qualified, Into in next step；4th step, third user are tied by " qualification " described in sample information processing and analysis module (256) manual review Whether fruit is subjected to, if acceptable, artificial choosing fills out a result into system；Knowledge on drug abuse information in 5th step, system Auto-matching module (261) and pending report automatically-generating module (255) automatically generate pending genetic test report；6th Step, fourth user in sample information processing and analysis module (256) " pending report " described in manual examination and verification, generate eventually for The genetic test of accurate medication is instructed to report.

In third step of the invention, which is " to close by second user i.e. " technical support user " Lattice ", " examining again " or " moving back inspection ".If processing is " examining " again, which returns to again real at the first user, that is, laboratory technician It tests, again through the first to the 6th step of the invention examine again after.If processing is " moving back inspection ", which cannot generally be formed finally Examining report.In the 4th step of the invention, if third user is " data analyze user ", second user i.e. " skill is overthrown in review Art supports user " " qualification " processing result for making, then sample comes back to " suspicious " state, that is, come back to third step and by Second user determines again.

It include two differences the step of manual examination and verification " pending report " in final step in a kind of specific embodiment Fourth user successively audit, and specially first trial and review.

In a kind of specific embodiment, the fourth user of the first trial and third user are same user, and and its The fourth user of remaining the first user, second user and review are different users.

For example, laboratory technician is the first user in flow chart, technical support user is second user, and data analysis user one is Third user, data analyze user two and three be respectively first trial fourth user and review fourth user, and third user and The fourth user of first trial is same people.

In a kind of specific embodiment, first user is " laboratory technician user ", and second user is " technical support User ", third user are " data analyze user " or " administrator ", and fourth user is " data analyze user " or " management Member user "；

The system also includes for providing the information material after arranging for Systematic selection and matched information management mould Block (1), the information management module (1) include Drug-gene pair project information management module (149), the Drug-gene pair item Mesh information management module (149) is used to increase newly in systems using the user of system and/or editorial management Drug-gene pair project Information includes multiple Drug-gene pair projects, each drug in the Drug-gene pair project information management module (149) Gene pairs project includes a kind of or a kind of drug and one or more genes, and the Drug-gene pair project information is used to be system Automatic identification and matching experimental file information and gene information provide premise；

" administrator " is also used to the drug base in information management module (1) described in newly-increased and/or editorial management Because to project information.The sample information processing and analysis module (256) include " pre-processing module " and " post-processing module ".? Before system is analyzed and is handled to information automatically, " pre-processing module " of the sample information processing and analysis module (256) Sample information for the user management experiment；The sample information processing and analysis module (256) are usually by " experiment at this time Member " user's operation.

After system is analyzed and is handled to information automatically, sample information processing and analysis module (256) " after Processing module " is used for the sample information of the user management experiment.Preferably, described " post-processing module " is included at least for artificial Audit the first unit of " pending report "；" first unit " generally comprise by two different " data analyst " users or " administrator " user's operation, including first trial expert and review expert.It is preferred that " post-processing module " further includes for system Be determined as that the result of " suspicious " i.e. " unqualified " makes artificial judgement, determine the result whether He Ge second unit；Described " the Unit two " are generally by " technical support person " user's operation.It is preferred that " post-processing module " further includes for using system Other users manually determine that the result of " qualification " carries out manual review, to check whether the result is subjected to, and are knot by review When fruit is subjected to, " third unit " of the result into system is filled out for choosing.The third unit is generally by " data are analyzed Member " user or " administrator " user's operation.And operate " data analyst " of third unit and the first trial of operation " first unit " Expert is generally the same expert.In the present invention, the result of " choosing fills out a result into system " be, for example, " feminine gender " or " positive ".

The third method:

The present invention provides a kind of method that Semi-Automatic Generation is used to that the genetic test of accurate medication to be instructed to report, the method A kind of for instructing the genetic test intelligent reporting system of accurate medication including using, the system comprises information analysis and processing Module (2), the information analysis and processing module (2) include information Auto-matching module (21) and sample information processing and analysis Module (256)；The information Auto-matching module (21) includes experimental file information Auto-matching module (254), gene information Auto-matching module (258), knowledge on drug abuse information Auto-matching module (261) and pending report automatically-generating module (255), institute Experimental result file of the information Auto-matching module (21) for the information in system to be uploaded in system with user is stated to carry out Auto-matching and parsing；Experimental result file is uploaded to for user and is by the sample information processing and analysis module (256) Artificial treatment sample information is used in system and after system automatically parses experimental result file；

Described method includes following steps: the first step, the first user sample information processing and analysis module (256) on Pass experimental result file；Experimental file information Auto-matching module (254) and gene information Auto-matching in second step, system Module (258) Auto-matching and judgement, if system can not determine；Third step, third user in sample information processing and analyze mould Manually choosing fills out a result into system in block (256)；Knowledge on drug abuse information Auto-matching module in 4th step, system (261) and pending report automatically-generating module (255) automatically generates pending genetic test report, i.e., pending report；5th Step, fourth user in sample information processing and analysis module (256) " pending report " described in manual examination and verification, generate eventually for The genetic test of accurate medication is instructed to report.

It include two differences the step of manual examination and verification " pending report " in final step in a kind of specific embodiment Fourth user successively audit, and specially first trial and review.

In a kind of specific embodiment, the fourth user of the first trial and third user are same user, and and its The fourth user of remaining the first user and review are different users.

In a kind of specific embodiment, first user is laboratory technician, third user is " data analyze user " Or " administrator ", fourth user are " data analyze user " or " administrator "；

The system also includes for providing the information material after arranging for Systematic selection and matched information management mould Block (1), the information management module (1) include Drug-gene pair project information management module (149), the Drug-gene pair item Mesh information management module (149) is used to increase newly in systems using the user of system and/or editorial management Drug-gene pair project Information includes multiple Drug-gene pair projects, each drug in the Drug-gene pair project information management module (149) Gene pairs project includes a kind of or a kind of drug and one or more genes, and the Drug-gene pair project information is used to be system Automatic identification and matching experimental file information and gene information provide premise；

" administrator " is also used to the drug base in information management module (1) described in newly-increased and/or editorial management Because to project information.

In the present invention, such as detection platform mismatch causes system that can not determine, such as only surveys comprising pyrophosphoric acid in system Sequence platform, and experimental result file is quantitative fluorescent PCR platform.It then can system and above-mentioned five step realities through the invention Now providing to the processing of sample information and examining report.

Generally speaking, in the present invention, laboratory technician's uploading detection result is into system, and in system Auto-matching and processing Afterwards, general there are three types of situations: the site 1. having is the site for having determined that testing result qualification.2. site be without It is fitted on the site of newest testing result.3. site be the suspicious site of testing result.

Wherein, 1. planted for the, point the Edit button can the result of directly loci edited, edit page exhibitions Show the site recently matched testing result map and always comment record.If necessary to modify testing result i.e. gene Type can be clicked and fill in frame by testing result, testing result, that is, genotype be selected in the combobox of pop-up, then click and fill in " confirmation " button by frame completes testing result editor.If it is considered to the site primer result can not determine, it can be " suspicious " Filling in front of button fills in suspected cause in frame, then clicks " suspicious " button, determines that the site primer result is suspicious.

2. planted for the, point the Edit button can the result of directly loci edited.

It is 3. planted for, point " suspicious " button can be handled suspect sites, click to enter the processing page, page meeting The comment record and the newest testing result map being matched to of display always.When suspect sites processing, first filled in filling in frame It is recommended that reason or as a result, the corresponding button " readable ", " again examine " or " moving back inspection " are clicked further according to processing result, at completion suspect sites Reason.

Specifically, the present invention provides a kind of specific method for being formed and instructing the genetic test report of accurate medication, including Following steps:

Step 1: in sample information processing and analysis module 256, newly-added information includes sample information, project information, trouble Person's information, other information, formula info unit.As an improvement of the above scheme, sample information can sample information processing and Directly newly-increased typing, can also be imported by excel document in analysis module 256.As an improvement of the above scheme, submitted Sample information cannot modify privately, such as to modify needs to apply, and writes reason exactly, by examination & approval reply, can modify, with Ensure the authenticity and controllability of information.

Step 2: in sample information processing and analysis module 256, uploading detection destination file identifies file class, really Determine detection platform, preset Quality control rules and diagnostic rule in matching system.As an improvement of the above scheme, experimental result is uploaded When file, multiple experimental result files can be once selected, batch uploads.As an improvement of the above scheme, experimental result file It can specify experimental result ownership mechanism when upload, it is same to realize to realize the ownership respectively of the experimental result of multiple mechanisms The Quality Control of a mechanism is shared.As an improvement of the above scheme, after experimental result file uploads, the information Auto-matching mould of system Block 21 can do preliminary judgement to the format and content of destination file, and whether immediate feedback destination file can be normally used for solves automatically Analysis and abnormal cause.As an improvement of the above scheme, duplicate checking can be carried out to filename automatically when experimental result file uploads, It prevents from repeating to upload.As an improvement of the above scheme, the experimental result file of the past shows in the form of a list, can be searched Rope, downloading.

Step 3: by the sample ID in testing result file and the encoding samples in program ID matching system and inspection are detected Location point, and according to the Quality control rules and diagnostic rule being matched in above-mentioned steps two, to testing result carry out Quality Control evaluation and As a result interpretation, and file spectrum data generates test map according to testing result, interpretation result and test map are updated to sample List cell corresponding position.As an improvement of the above scheme, when Quality Control fails, failure cause is listed, submits artificial treatment.As The improvement of above scheme can be carried out manually forcing matched sample ID and detect program ID.It as an improvement of the above scheme, can be with It is artificial to carry out result interpretation.

Step 4: the result for each detection unit that above-mentioned steps three obtain is matched with knowledge on drug abuse library, determines various kinds The medical significance of this projects, and it is stored in sample information processing and analysis module 256.It as an improvement of the above scheme, can be with Medical significance is temporarily manually filled in, and is manually matched.As an improvement of the above scheme, the calculating in system including relevant item is public Formula, the result by transferring the formula info in system and each detection unit substitute into formula, voluntarily calculate.

Step 5: laboratory and detection project and detection are examined according to the receipts in sample information processing and analysis module 256 The pattern of report template in categorical match system is divided into standardization report template and personalized report template.It is various to meet The demand of personalized report style.

Step 6: it transfers relevant information filling automatically in selected report template, generates examining report.Each relevant information By with match acquisition in the system in above-mentioned steps four.As an improvement of the above scheme, it is necessary to the inspection of all items of sample Survey result determines and medical significance determination side automatically generates examining report.

Step 7: the examining report generated in above-mentioned steps six submits manual examination and verification.As an improvement of the above scheme, if Set dual audit, it is desirable that different accounts are audited respectively, it is ensured that the accuracy of examining report.

Step 8: completing the whole version plate examining report of manual examination and verification, can download in above-mentioned steps seven, provides.While Mailbox is received with the report in sample information processing and analysis module 256, the automatic electronic edition that sends is reported to specified mailbox.Ensure Real-time examining report downloading and sent.As an improvement of the above scheme, the examining report downloading of miscellaneous editions is provided, including But it is not limited to word and PDF version.As an improvement of the above scheme, the report of downloading can specify sample information processing and analysis One or more attribute values in module 256, for being named automatically the report file of downloading.As an improvement of the above scheme, Batch downloading can be carried out to examining report.

In addition, each flow state and handling suggestion are in real time in sample information processing and analysis module in above-mentioned all steps Middle displaying, and each field keyword can carry out screening and check in the module.As an improvement of the above scheme, it specifies therein normal With screening keyword, automatic screening result in the form of a list click list in pending list block and realize one by real-time exhibition Key inquiry.As an improvement of the above scheme, wechat or QQ account that each pending list Real-time Feedback is specified to concerned account numbers are realized Real time monitoring is handled in real time.

The above content is combine specific preferred embodiment to the further description of the invention made, and it cannot be said that originally The specific implementation of invention is only limited to these instructions.For those of ordinary skill in the art to which the present invention belongs, not Under the premise of being detached from present inventive concept, several simple deductions and replacement can also be made, all shall be regarded as belonging to guarantor of the invention Protect range.

Claims (10)

1. a kind of accurate medication intelligent reporting system of information management module containing gene loci, the system comprises information management moulds Block (1) and information analysis and processing module (2), the information management module (1) include Drug-gene pair project information management mould Block (149) and gene loci information management module (147), the information analysis and processing module (2) include information Auto-matching Module (21) and sample information processing and analysis module (256)；

The information management module (1) is mainly used for providing the information material after arranging for Systematic selection and matching；The medicine Object gene pairs project information management module (149) is used to increase newly in systems using the user of system and/or editorial management drug Gene pairs project information includes multiple Drug-gene pair projects in the Drug-gene pair project information management module (149), often A Drug-gene pair project includes a kind of or a kind of drug and one or more genes, the Drug-gene pair project information For providing premise for system automatic identification and matching experimental file information and gene information；The gene loci information management mould Block (147) increases newly for user to gene loci information involved in system and/or editorial management；

The information Auto-matching module (21) is used to the information after information management module (1) management being uploaded to system with user In experimental result file carry out Auto-matching and parsing, the sample information processing and analysis module (256) are for user general Experimental result file is uploaded in system and after system automatically parses experimental result file for artificial treatment Sample information.

2. system according to claim 1, which is characterized in that the information management module (1) further includes knowledge on drug abuse library letter Cease management module (150), and knowledge on drug abuse library information management module (150) be used for the user using system it is newly-increased and/or Editorial management knowledge on drug abuse library information, knowledge on drug abuse library information are used to obtain automatically before providing genetic test report for system Take the knowledge on drug abuse information to match with the genetic test result.

3. system according to claim 1, which is characterized in that the information management module (1) further includes experimental file information Management module (157), the experimental file information management module (157) is newly-increased for user and/or arranges storage in systems Experimental result the file information, in the experimental result file comprising using sequenator by testing the sample detected under line Experimental result.

4. system according to claim 1, which is characterized in that the information Auto-matching module (21) includes experimental file Information Auto-matching module (254), gene information Auto-matching module (258), knowledge on drug abuse information Auto-matching module (261) With pending report automatically-generating module (255)；

The experimental file information Auto-matching module (254) and gene information Auto-matching module (258) are provided commonly for reality Test the gene information Auto-matching in destination file and system and parsing；

The knowledge on drug abuse information Auto-matching module (261) is used for after system automatically parses experimental result file The pass result or automatic to knowledge on drug abuse in the knowledge on drug abuse library in the result and system being filled in manually automatically parsed to system Matching；

The pending report automatically-generating module (255) is used to match in the knowledge on drug abuse information Auto-matching module (261) Pending examining report is automatically generated after to relevant administration knowledge information；

It is preferred that the sample information processing and analysis module (256) include uploading experimental result file for user into system Pre-processing module；It further include after system automatically parses experimental result file for after artificial treatment sample information Processing module.

5. system according to claim 4, which is characterized in that the post-processing module includes raw for manual examination and verification system At " pending report " first unit, preferably described " first unit " is set as successively artificial by two different expert users It audits " pending report ", the expert user includes first trial expert and review expert；It is preferred that the post-processing module includes being used for The result of " suspicious " i.e. " unqualified ", which makes artificial judgement, to be determined as to system, to determine the second whether qualified list of the result Member.

6. system according to claim 4, which is characterized in that the post-processing module includes for using the system Other users be manually determined as " qualification " result carry out manual review, to check whether the result is subjected to, and When review is subjected to for result, " third unit " of the result into system is filled out for choosing.

7. system described according to claim 1~any one of 6, which is characterized in that the Drug-gene pair project information Including 5-FU-DPYD, 5-FU-MSI, 5-FU-MTHFR, 5-FU-TP, 5-FU-TYMS, the area Aldoforwe ester-HBV-P, A Fentai Buddhist nun-CYP3A4, alfentanil-CYP3A5, Aripiprazole-CYP2D6, adriamycin-GATP1.GSTM1, platinum class-GSTP1, Li Fu Flat-NAT2, warfarin-CYP2C9.VKORC1, aspirin-COX1, clopidogrel-CYP2C19, folic acid-MTHFR and Yi Li For one of health-UGT1A1 or a variety of.

8. system described according to claim 1~any one of 6, which is characterized in that the Drug-gene pair project information Anthracycline-TOP2A (mRNA) including anthracycline-containing drug and gene TOP2A (mRNA), and the class drug of anti-epileptic containing aromatic series With the aromatic series anti-epileptic class-HLA-B of gene HLA-B.

9. system described according to claim 1~any one of 6, which is characterized in that the sample information processing and analysis Module (256) includes " sample information ", " patient information ", " project information ", " other information ", " report audit " this five management Unit；The Drug-gene pair number of entry in the system in Drug-gene pair project information management module (149) be 10 with On, preferably at 50 or more, more preferably at 100 or more；Drug and gene information are homogeneous in the same Drug-gene pair project Together, drug information and/or gene information are different in different Drug-gene pair projects.

10. system according to claim 1, which is characterized in that the gene loci includes the corresponding site gene C YP2D6 CYP2D6*10 (C188T), CYP2D6*5 (del) and CYP2D6*14 (G1846A) and gene " area HBV-BCP " and " HBV-P The area corresponding gene loci HBV-BCP, area " (A176ZT), the area HBV-BCP (G1764A), the area HBV-P (V173L), the area HBV-P (M204V/1/S), the area HBV-P (M250V), the area HBV-P (N236T), the area HBV-P (A181V/T), the area HBV-P (S202G/I), One of the area HBV-P (I169T), the area HBV-P (T184A/G/1/S) are a variety of.