CN110010200A - A kind of gene identities identifying system - Google Patents
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- CN110010200A CN110010200A CN201910305025.5A CN201910305025A CN110010200A CN 110010200 A CN110010200 A CN 110010200A CN 201910305025 A CN201910305025 A CN 201910305025A CN 110010200 A CN110010200 A CN 110010200A
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Classifications
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
- G16B30/10—Sequence alignment; Homology search
Abstract
The present invention provides a kind of gene identities identifying system, and the system comprises information management module, information analysis and processing module, gene identities identification module, personal user's gene loci data memory module and personal user's medication record data memory modules；The information management module and information analysis and processing module) collective effect is used to form and the genetic test of accurate medication instructed to report；The gene identities identification module, personal user's gene loci data memory module and personal user's medication record data memory module are interrelated, system queries gene loci data associated with it and medication record data can be passed through when for patient clinical medication, it is also used for that the repetition of subsequent gene detection business is avoided to carry out after the related gene of patient has detected.System of the present invention can it is quick, intelligent, accurately provide for instructing the genetic test of accurate medication to report, and it is quick, intelligent, report accurately showed into patient and its relatives, doctor or pharmacist.
Description
Technical field
The present invention relates to genetic test fields, and in particular to a kind of gene identities identifying 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
The demand of gene-associated diseases is prevented and treated well, and the mechanism of numerous offer technique of gene detection services has been provided 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 machines of detection service
The disparity items of structure either same mechanism has itself with the content of examining report, pattern for taking for detection platform
Consider and requires.
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
Limitation, annotation is unilateral, when facing high-volume data processing, is easy fatigue, influences work quality, and when business tine is related to
When to multiple detection methods or platform, to participating in, testing result is interpreted and the ability of the personnel of analysis and quantitative requirement can improve.
As it can be seen that pure artificial working method also will affect the accuracy of examining report while increasing human cost and time cost
And timeliness.
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, for a kind of testing result of platform can only automatically analyze or even needs manually
Typing testing result after analysis, intelligent inadequate, applicability is not strong；And more rare it is related to accurate medication relevant report system
System, 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, the generation of automatic detection report
Also can only a kind of set standardized report style, 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
The fault that frequent manual operation may cause 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 for receiving
From the subject's essential information and sample binding information of clinical sample management system and the inspection from laboratory data management system
It surveys 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
It is accomplished manually, 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, energy
Enough to be effectively integrated to bulk information, concentrate displaying, personalized medicine proposal part can uniformly edit rear directly set
With can also individually add personalized remark information；Even if can also be examined according to gene in the case where detection number of cases is more
The result of the genotype for the related gene (CYP 2C19, PON1 and ABCB1 gene) surveyed on instrument quickly, efficiently and accurately goes out
Has clopidogrel medication related gene examining report, as long as the basic clinical information of typing patient and genetic test are as a result, can be certainly
It is dynamic to provide 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
Error generation rate when providing report can be reduced, consequently facilitating the use in medical staff's clinical position.The system is only for chlorine
This single drug of pyrrole Gray 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 behaviour of the disease to be checked including obtaining user's genetic test result and user's input first
Make；Then gene loci corresponding with disease to be checked is determined according to the corresponding relationship between preset disease and gene loci
Information；Then genotype information corresponding with gene loci information is determined in user's genetic test result；It is then based on gene
Site information, genotype information and preset calculation formula calculate the health index of user；Finally according to health index and default
Statement-of-health generating mode generate health guidance report, in order to which user carries out disease to be checked according to health guidance report
Prevention and control, solve due to knowing about the technical issues of genetic profile is not difficult to accurately to carry out disease prevention and control,
Reach help user and understood itself genetic profile and health condition, preferably carries out the technology effect of prevention and the control of disease
Fruit.Patent of invention CN201410487501 discloses a kind of method and device for automatically generating genetic test report, this method packet
It includes: obtaining the hereditary information and sample information of detected object；By hereditary information query gene database, obtains and believe with heredity
Cease corresponding characterization information；Call the normalized template of genetic test report, and by sample information and corresponding with hereditary information
Characterization information imports in normalized template, automatically generates genetic test report.By the above-mentioned means, the present invention can save greatly
The time is measured, guarantees accuracy, in time reports genetic test and updated.Above system cannot be examined for different genes
Survey project provides the examining report of the knowledge containing medication guide automatically.
Therefore, a kind of method that this field needs accurate medication intelligent reporting system and generates report.
In addition, the same patient may be related to a kind of or more with the development of society and popularizing for genetic test means
Kind disease needs corresponding progress gene diagnosis or detection, and the repetition particularly with regard to same disease in different time detects
Or a variety of different diseases be required to carry out genetic test when, patient and its relatives, doctor or pharmacist need corresponding system
Its existing genetic test situation and medicining condition are understood with method.Therefore, this field needs a kind of gene identities identification system
System.
Summary of the invention
Therefore, the present invention provides a kind of gene identities identifying system, and the system comprises information management modules (1), information
Analysis and processing module (2), gene identities identification module (3), personal user's gene loci data memory module (4) and individual
User's medication record data memory module (5), the information management module (1) include Drug-gene pair project information management mould
Block (149), the information analysis and processing module (2) include information Auto-matching module (21) and sample information processing and divide
It analyses 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, each Drug-gene pair project include a kind of or a kind of drug and one or more genes,
The Drug-gene pair project information is used to provide premise for system automatic identification and matching experimental file information and gene information；
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；The information management module (1) and information analysis and processing module (2) collective effect are used to form guidance
The genetic test report of accurate medication；
The gene identities identification module (3), personal user's gene loci data memory module (4) and personal user use
Medicine record data memory module (5) is interrelated, can pass through system queries base associated with it when for patient clinical medication
Because of site data and medication record data, it is also used for avoiding subsequent gene from detecting after the related gene of patient has detected
The repetition of business is carried out.
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
It accuses automatically-generating module (255)；The experimental file information Auto-matching module (254) and gene information Auto-matching module
(258) be provided commonly for by experimental result file and system gene information Auto-matching and parsing；The knowledge on drug abuse information
Auto-matching module (261) is used for the conjunction automatically parsed after system automatically parses experimental result file to system
Lattice result or to knowledge on drug abuse Auto-matching in the knowledge on drug abuse library in the result and system being filled in manually；The pending report
Automatically-generating module (255) is used to be matched to relevant administration knowledge letter in the knowledge on drug abuse information Auto-matching module (261)
Pending examining report is automatically generated after breath.
In a kind of specific embodiment, the sample information processing and analysis module (256) include being used for user
Pass pre-processing module of the experimental result file into system；It further include carrying out automatically parsing it to experimental result file in system
It is used for the post-processing module of artificial treatment sample information afterwards.
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 " be set as expert user manual examination and verification successively different by two " to
Examine report ", the expert user includes first trial expert and review expert；It is preferred that the post-processing module includes for system
Be determined as that the result of " 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 aromatic series of the class drug of anti-epileptic containing aromatic series and gene HLA-B are anti-
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), it is more excellent preferably at 50 or more
It is selected in 100 or more；Drug and gene information are all the same in the same Drug-gene pair project, different Drug-gene pair items
Drug information and/or gene information are different in mesh.
In a kind of specific embodiment, the Drug-gene pair project information management module (149) is only in system
Certain customers it is open；Knowledge on drug abuse library information management module (150) is only open to the certain customers in system, by special
" system manager " user of family's grade is managed.
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 extracted or generate and is each
Testing result original figure spectrum；And examining report template can be chosen on demand automatically and then fill relevant information, generate detection report
It accuses, be capable of the flow state of real-time exhibition detection sample and remind in real time.Specifically, each Drug-gene pair item of the invention
It all include a kind of or a kind of drug determined and one or more genes determined, two different Drug-gene pair items in mesh
Drug is different between mesh and/or gene is different.Each project can be in literary style drug in preceding gene in rear or gene in prodrug
Object is rear.Based on setting in the present invention, there are many different Drug-gene pair projects, system provided by the invention to mention automatically
Corresponding data are taken and matched, system of the present invention is enabled to judge automatically the corresponding medicining condition of the genotype and by being
System automatically generates examining report.Only because allowing report more rigorous to the maximum extent and making providing for report more careful, thus this
Invention just forms report final draft to be downloaded after carrying out manual examination and verification by expert by system automatically generated " pending report ".Especially
Preferably two different experts 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 and artificial treatment not in inspection
The process of manual examination and verification examining report is embedded in after the process of qualified testing result, inspection, it is ensured that the controllability of operation flow with
Safety.
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 in drug-gene naming rule matching knowledge on drug abuse library
Same drug gene is named the corresponding default medical significance of project, is transferred automatically, it is no longer necessary to artificially according to different detection knots
Fruit 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 and refers to
Lead suggestion, 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.
It 8, 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 in gene information management module 146
The several genes site information of corresponding management, sample state letter in several genes information, gene loci information management module 147
Cease a variety of sample status informations of corresponding management in management module 148, corresponding management in data dictionary information management module 159
A variety of data dictionary information and report template information management module 160 in corresponding management a variety of report template information etc.,
It is provided to the demand of multi-class and a variety of different Drug-gene pair project information in corresponding present system.Institute of the present invention
State that system suitability is wide, and the system to the analysis of experimental result and provides the genetic test comprising accurate drug direction and reports
Speed it is fast.
9, gene identities identification module 3, personal user's gene loci data in gene identities identifying system of the present invention
Memory module 4 and personal user's medication record data memory module 5 are interrelated, can pass through when for patient clinical medication
System queries gene loci data associated with it and medication record data are also used for having detected in the related gene of patient
Later, the repetition of subsequent gene detection business is avoided to carry out.Gene identities identifying system of the present invention can be quick, intelligent, quasi-
Really provide for instructing the genetic test of accurate medication to report, and it is quick, intelligent, accurately by report show patient and its
Relatives, doctor or pharmacist.
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 that the system comprising cloud storage and gene identities identification module 3 uses schematic diagram.
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
It is significant related to HLA-B*5801, can allopurinol be routinely used for patient with gout, hospital can entrust genetic test company
Detect whether the patient carries HLA-B*5801.If genetic test result is not carry HLA-B*5801, it may be considered that use
Conventional allopurinol treatment scheme；And if genetic test result be carry HLA-B*5801, the patient using allopurinol into
The risk that toxic side effect occurs when row treatment 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 is also
It is provided with technical support department, further to verify cause and effect.Because in the prior art these work almost all by
It is accomplished manually, and is usually all between " technician/laboratory technician ", " technical support department member " and " data analysis portion member "
It sends out mail and links up file and data, will lead between each staff information flow so not in time, and the subjectivity of people's naked eyes is sentenced
It is disconnected very limited.It is subsequent have in patent document to some of which step develop corresponding system make part steps be able to from
Dynamicization is completed, but these are based not on " Drug-gene pair " project management techniques in the prior art, also just generally all can not be certainly
Dynamic progress knowledge on drug abuse information Auto-matching, report template Auto-matching and pending report automatically generate.Therefore, this field has
Necessity develops 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 feeds back the experimental result of genetic test into system, and system automatically parses testing result.It is usually the after parsing
A kind of situation: system is determined as " readable ", i.e. result " qualification "；Second situation: system is determined as " suspicious ", i.e. result " no
It is qualified "；Content other than system convention is just shown as suspicious；And the third situation: system can not determine, show at this time
For 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 does not conform to
Lattice and laboratory technician is required to examine again, determines that testing result is unqualified but cannot test again, move 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, being later
System provides pending examining report automatically.Another situation is that system automatically parses the testing result of detecting instrument
Afterwards, be determined as it is suspicious, then by " technical support user " and " data analyze user " jointly Lai artificial definitive result.It is later
System provides pending examining report automatically." data analyze user " can be by or not pass through in audit report.Such as
Two auditors of fruit pass through, then form final genetic test and accurate medication report.In addition, system except interpretation be " can
Other than reading " and " suspicious ", goes back some results system and do not judge.It is this it is a small number of in the case where, can be without system, and people
Work fills out result.
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 " weight
When inspection ", generally requires and fill in reason.After " technical support user " processing, which is shown as " solution ".Such as
Fruit " data analyze user " thinks that the processing result of " technical support user " and opinion are correct, then receives and select to fill out corresponding inspection
It surveys result (genotype).If " data analyze user " does not receive the opinion of " technical support user ", this message becomes again
" suspicious " state.In addition, the 4th kind of user role using this system is " administrator ".The groundwork of " administrator " is pair
Information in system is safeguarded that the information in system includes gene information, Drug-gene pair project information, gene loci letter
Breath, the Template Information of report, detection method information, detection classification information, sample status information, sample type information, drug letter
The information such as breath and technology platform information.Wherein for example it is arranged and edits the reference and bibliography in the template reported, pipe
Reason person user wherein " reference " will can be set as that specific reference content can be listed, and " bibliography " is set as only
List the file name of reference.
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 that readable or suspicious, readable result can directly " be used by include in system
Medicine knowledge information Auto-matching module " matches corresponding knowledge on drug abuse, and system is provided automatically for data analysis user's audit
" pending " report.So that there have the considerable accurate medication amount of reporting to be replaced substantially by machine in sample to be examined to be artificial,
Report that 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
Project information management module (149), knowledge on drug abuse library information management module (150), backlog information management module (151),
Sample type information management module (152), drug information management module (153), experimental file information management module (157), base
Because of information management module (146), gene loci information management module (147), sample state information management module (148), data
Dictionary information management module (159) and report template information management module (160), the information analysis and processing module (2) packet
Include information Auto-matching module (21) and sample information processing and analysis module (256), and the information Auto-matching module
It (21) include experimental file information Auto-matching module (254), gene information Auto-matching module (258), knowledge on drug abuse information
Auto-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
Formation project, and drug and gene matching get up to form Drug-gene pair in system of the invention, which reduces very much
It is artificial to distinguish, it 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,
Adriamycin-GATP1.GSTM1, platinum class-GSTP1, rifampin-NAT2, warfarin-CYP2C9.VKORC1, aspirin-
One of COX1, clopidogrel-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..
Also 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.Also
The example of the corresponding gene of a kind of drug, for example, anthracene nucleus medicament and gene TOP2A (mRNA)；Either aromatic series resists insane
Epilepsy 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 base for system is automatic before providing genetic test report
The knowledge on drug abuse information to match by testing result；
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 system place to go science and engineering and make
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 include DNA, FTA card, PCR product, puncture marrow, puncturing tissue,
Venous blood, anticoagulation cirumferential blood, buccal swab, paraffin organization, hydropericardium, flesh tissue, Pleural effusions, pleural effusion, blood plasma and
One of serum is 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 De
Good fortune Wei ester, alfentanil, Aripiprazole, adriamycin, amitriptyline, Anastrozole, aspirin, Atorvastatin, A Zhasi
Fine jade, Conmana, esomeprazole, eslicarbazepine, Amlodipine, Ondansetron, Oxcarbazepine, one in clopidogrel
Kind 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, occur never again experimental file lose, be ignored, be held off processing and can not
The problems such as tracing to the 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 include 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 position
The area point HBV-BCP (A176ZT), the area HBV-BCP (G1764A), the area HBV-P (V173L), the area HBV-P (M204V/1/S), HBV-
The area 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 area HBV-P (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 includes humidity, mildew, blood coagulation, dyeing, haemolysis, normal, tissue mass is few
One of or it is a variety of.
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
Classification information；The detection method information includes DNA extracting/ARMS-PCR, DNA extracting/PCR amplification/gene sequencing, RNA
Extracting/reverse transcription quantitative fluorescent PCR, RNA extracting/reverse transcription quantitative fluorescent PCR, in RNA extracting/fluorescence in situ hybridization
One or more, the detection technique platform information includes pyrosequencing platform, and the testing goal classification information includes to use
One of medicine and physical examination are 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；It is preferred that right
Common template or personalized template are contained at least one in each Drug-gene pair project.
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 in examining report
Map or bibliography.Some hospitals need behind genotype plus specific descriptions such as [wild type] [mutation heterozygous]
Printed words.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
First trial 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-
The area HBV-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.Many kinds may be corresponded to not with previous gene
Determining drug, as soon as and drug may also correspond to many uncertain genes, this needs to expend many artificial energy
To distinguish.
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 that patient's microsatellite is high
Unstable (MSS-H) is spent, cannot be benefited 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, and unified and standard medical significance follows up in real time
With 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 of " moving back inspection "
Number is 3, and 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
Item, the sample number to " modify application " are 1, and the sample number of " it fails to match in site " is 3, " medication suggestion is not found "
Sample number is 0, and 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
This 15 kinds of samples of peripheral blood, buccal swab, paraffin organization, hydropericardium, flesh tissue, Pleural effusions, pleural effusion, blood plasma, serum
This 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, A Defu
Wei ester, alfentanil, Aripiprazole, adriamycin, amitriptyline, Anastrozole, aspirin, Atorvastatin, A Zhasi
Fine jade, Conmana, 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 " real in this way
Test 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 by sequenator from
The dynamic experimental file (experimental result file) generated will upload in system of the invention.Therefore, file is no longer lost, is also made
Obtaining document receivers can be consulted with most fast speed and handle associated documents, and make the tractability of this document more preferable, such as
Experimental file before several years can also be easily found by the system, and never again because of the urgent processing of sample and laboratory technician
Leave office etc. reasons 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, Xiangya Medical College, Zhongnan Univ are attached swollen
Tumor 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 to it and repair
Change.In this system, successor is usually exploitation this system and using sending to each hospital outside the genetic test company of this system on file
Carry out the laboratory technician of gene sequencing experiment.Specifically, laboratory technician is first in systems " newly-increased sample information ", then does gene under line
Test experience simultaneously obtains experimental result, such as 4 hours time-consuming；Then " experimental result file is increased newly " in systems, later system
Automatically 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.
There are newly-increased, search and refresh button in " experimental file management ", is respectively as follows: the newly-increased experimental file of click；It, can after clicking search
To select keyword, and condition is set, screening meets the experimental result file of corresponding conditions；It clicks and refreshes the current list.It is " new
Increase experimental result file " when, " select file " button is clicked, in the dialog box of pop-up, according to the experimental result of quasi- upload text
The store path of part finds the experimental result file for needing to upload, the addition of experimental result file is completed after opening.Point again
Hit the ownership hospital of experimental result file.The upload that " upload " button completes the experimental result file added is clicked, system is
When the experimental result file of upload is parsed, to obtain the corresponding genotype of experimental result file.It is legal
The success of experimental result document analysis, shows in experimental file list, and file status is normal parsing, the experiment normally parsed
Destination file, system is by Auto-matching, interpretation.Experimental result document analysis failure normally is not inconsistent, in experimental file list
Middle displaying, file status are that file is abnormal, abnormal experimental result file, and system can not automatically parse, match, interpretation, are needed
Reason is specified, is uploaded again after modification.The work is still by the experiment of " newly-increased sample information " and " newly-increased experimental result file "
Member completes.
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-
Area P (T184A/G/1/S) etc.." gene loci " information is in newly-increased or editor, wherein " remarks " field corresponds to the ginseng in the site
Sequence is examined, mutated site (base) is bracketed with { }.
Nine, " sample state information management module 148 "
Sample status information in system lacks this for example including humidity, mildew, blood coagulation, dyeing, haemolysis, normal, tissue mass
7 kinds of states.
Ten, " data dictionary information management module 159 "
Detection method information: DNA extracting/ARMS-PCR, DNA extracting/PCR amplification/gene sequencing, RNA for example take out
Mention/reverse transcription quantitative fluorescent PCR, RNA extracting/reverse transcription quantitative fluorescent PCR (SYBR-Green dye method), RNA extracting/glimmering
This five kinds of light hybridization in situ (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
It is 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 position
Point 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 inspection
It surveys the result is that GT- is mutated heterozygous, then it is normal risk that hepatitis B canceration risk, which occurs, for hepatitis B patient；Gene loci testing result
It is TT- mutated homozygous, then it is compared with low-risk that hepatitis B canceration risk, which occurs, for hepatitis B patient.Therefore, doctor sees the report of the system
After announcement, patient, which takes some precautionary measures, to be suggested for hepatitis B canceration high-risk patient, such as prohibit and drink.
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 be 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
Specifically " sample list " example such as table 2 of " 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 matching
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 meeting
Automatically parse laboratory technician upload experimental result belong to it is any in above-mentioned three kinds of situations, such as a total of 3 files need
Detection, has completed 2, then situation is shown as " being partially completed ".Gene matching status: also include waiting for the start, be partially completed
Be fully completed three kinds of situations.It is " being fully completed " shape if corresponding 5 genotype of 3 files all parse
State.Knowledge on drug abuse matching status: also include waiting for the start, be partially completed and be fully completed three kinds of situations." file matches shape
State ", " gene matching status ", " knowledge on drug abuse matching status " this three generally can be soon automatically performed work by system, preceding
After may only differ several seconds, or almost this three provide result simultaneously.Audit state ": including " waiting pending ", " in first trial ",
The states such as " in review " or " completing audit ".System be provided with the auditor that two are independently audited come to system interpretation " can
Doubt " result progress manual examination and verification." application modification ", " submitting modification ", " examination & approval modification " and " downloading " is likely to occur under " operation "
Etc. states.It for example, laboratory technician has found that the name of patient is wrongly write, at this time cannot voluntarily arbitrarily change, and need in systems
Submit " application modification ".
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 " sample information "
Artificial treatment and analysis at this time enter " management " unit, carry out artificial interpretation and management to " sample information ".Certainly, manually
Any sample information can be managed.The example of artificial interpretation and management: the first situation is advised according to system
The case where being then difficult to interpretation in itself, second situation is, when system goes wrong suddenly, can be managed with manpower intervention.Example
Such as: at " sun ginseng Quality Control is unqualified ", system can not differentiate, but can manually be determined.At this time at " suspicious ",
It will appear " readable ", " examining again " and " moving back inspection " three selections." technical support user " processing system can not automatic discrimination it is all
The sample of " suspicious ".The corresponding map for the testing result file that technical support user obtains according to system, by artificial cognition,
An option is determined in " readable ", " examining " and " moving back inspection " again.
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), (such as DNA takes out sample testing method
Propose/PCR amplification/gene sequencing), pattern detection classification (medication, physical examination), Shou Jian hospital/joint laboratory, project be responsible for skill
Art person, 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
After support user " artificial treatment, he agrees or disagrees with the interpretation information of system, he is in " readable ", " examining " and " moving back inspection " again
Determine an option.The content of " readable " is submitted at " data analyze user ", and data analysis user first completes in pending report
The audit of every page content enters back into audit opinion and fills in the page, and the page can show audit logging always, and data analysis is used
Audit opinion is filled according to auditing result in family, final to click " passing through " or " not passing through " submission audit conclusion.Then, in first trial
Enter review afterwards, 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
It is classified as CGATCAGT, sequencing direction 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, type be respectively internal reference position, mutated site,
Peak positions 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 more
90% or more of state property.SNP is widely present in human genome, is just had 1 in average every 500~1000 base-pairs, is estimated
It is even more up to 3,000,000 to count its sum.
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,
There should not be signal value；It is percent how many to need correspond to peak positions lower than sample for the peak positions of yin ginseng, and perfect condition is negative
The peak positions of ginseng are 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 is wanted
Percent lower than its peak positions signal is how many, such as 10；The peak positions of sun ginseng position more unimodal than the correspondence of yin ginseng
The signal set wants high how many just calculations qualified；Again system judge sun ginseng genotype whether with design be sequenced software when program in
The genotype filled out is consistent；Meeting these conditions, then sun refers and synthesizes lattice.In addition, according to system convention to experiment information Auto-matching
When, it also needs to do Quality Control 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 to calculate qualification, customized by the administrator of system, perfect condition is that the internal reference position of sample should not have signal.Wherein, it tests
Number (No. PS) represents unique sequencing program, and 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
As a result sequence is GGTGG { C } GCA, testing result CC, and testing result is described as CC_ wild type.Its system evaluation result rule
It then include: that judge sequencing point be C, judges mode is threshold value, and the sequencing point is judged as when specifically threshold value is more than or equal to 85
CC。
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, inspection
Survey result tract be ACTTA { C/A } AGT, testing result CA, testing result be described as CA_ mutation heterozygous.Its system
Evaluation result rule includes: to judge sequencing for G, and judge mode is section, and specifically threshold value minimum is 35 and peak
It 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 to say to the description of the genotype
It is bright." result rule " is partially regular comprising intending the corresponding judge of genotype of increased site result.Wherein, " sequence is judged
Point " is the base for judging the genotype, which is automatically associated in " the experimental series details " of " experiment information " subordinate
" type " is the corresponding base of mutated site." judge mode " is the mode for selecting to judge the base, there is threshold value and section
Both of which, 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 mould in information management module 1
Block 150 is associated with report template information management module 160, and system Auto-matching is after information management module management and updating
Information.Meanwhile knowledge on drug abuse information Auto-matching module 261 and report template Auto-matching module 262 also with sample information
Processing 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 does not match in systems
Arrive, can the Edit button in click project directly carry out human-edited's medication guide.Such as " labetalol-CYP2D6 "
" medication suggestion is not found " of this Drug-gene pair, then need human-edited's medication guide.
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, the risk of the toxic side effects such as Neutrophilic granulocytopenia, diarrhea or weakness occurs for the tumor patient for carrying [TA] 6/ [TA] 6 type
Lower, the risk of these toxic side effects of the tumor patient of carrying [TA] 7/ [TA] 7 type is higher, carries the swollen of [TA] 6/ [TA] 7 type
The risk of these toxic side effects of tumor patient is between the above two.The genetic test result of the sample is [TA] 6/ [TA] in Fig. 3
6 types, 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 are obvious
It reduces, 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
The onset risk of disease obviously increases.Requiring supplementation with more folic acid for this kind of people can be only achieved desired effect.Therefore, of the invention
In genetic test and accurate medication intelligent reporting system contain " physical examination project-gene pairs ", can provide quick, intelligently detection report
It accuses.
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
The risk of the toxic side effect of drug 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 this
Patient 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,
Result is facilitated to trace 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
In the project management unit of 256 associated information management modules 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.
19, " gene identities identification module 3, personal user's gene loci data memory module 4 and personal user's medication note
Record data memory module 5 "
In conclusion information management module 1 of the present invention and information analysis and 2 collective effect of processing module are used to form
The genetic test of accurate medication is instructed to report.And gene identities identification module 3 of the present invention, personal user's gene position are counted
It is interrelated according to memory module 4 and personal user's medication record data memory module 5, for patient clinical medication Shi Ketong
System queries gene loci data associated with it and medication record data are crossed, are also used for having examined in the related gene of patient
After survey, the repetition of subsequent gene detection business is avoided to carry out.
Gene identities identification module is increased in the present invention, by establishing gene I/D to patient, so that the ID is stored with it
It is associated in the gene data and administration data of database, by its pass of system queries when realizing patient ID clinical application later
The gene and administration data of connection also avoid patient's ID follow-up clinical genetic test business from repeating to carry out.Preferably, of the invention
In include gene identities identification module system, establish include personal user's gene loci data and medication record data cloud
Storage system, user by modes such as internet, mobile Internets, can upload and download itself gene loci data and
Medication record data support the upload of several genes sequencing data, and professional (such as doctor or pharmacist) is assisted to mention for user
For drug risk prompt and medicine guide.
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 generate for instructing the gene of accurate medication to examine by the present invention
The method for observing and predicting announcement.
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
Module (2), the information analysis and processing module (2) include information Auto-matching module (21) and sample information processing and divide
It analyses module (256)；The information Auto-matching module (21) includes experimental file information Auto-matching module (254), gene letter
Cease Auto-matching module (258), knowledge on drug abuse information Auto-matching module (261) and pending report automatically-generating module
(255), the information Auto-matching module (21) is used to the information in system being uploaded to the experimental result in system with user
File carries out Auto-matching and parsing；The sample information processing and analysis module (256) are used for user for experimental result file
It is uploaded in system and after system automatically parses experimental result file 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 mould in second step, system
Block (258) Auto-matching and judgement then enter in next step if the system determine that being " readable ", i.e. result " qualification "；Third step is
Knowledge on drug abuse information Auto-matching module (261) and pending report automatically-generating module (255) in system automatically generate pending
Genetic test report, i.e., pending report；4th step, user's manual examination and verification in sample information processing and analysis module (256)
" the pending report " is generated 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 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), 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) in second step, system and gene information automatic
With module (258) Auto-matching and judgement, if the system determine that being " suspicious ", i.e. result " unqualified ", then enter in next step；The
Three steps, second user is handled by sample information and whether analysis module (256) manually determines the result " qualification ", if qualified,
Then enter in next step；4th step, third user described in sample information processing and analysis module (256) manual review by " closing
Whether lattice " result is subjected to, if acceptable, artificial choosing fills out a result into system；Medication in 5th step, system is known
Know information Auto-matching module (261) and pending report automatically-generating module (255) automatically generates pending genetic test report
It accuses；6th step, fourth user described in manual examination and verification " pending report ", generate in sample information processing and analysis module (256)
Eventually for the genetic test report for instructing accurate medication.
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 most
Whole examining report.In the 4th step of the invention, if third user is " data analyze user ", review overthrows second user i.e.
" qualification " processing result that " technical support user " makes, then sample comes back to " suspicious " state, that is, comes back to third step
And determined again by second user.
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 " technology branch
Hold user ", third user is " data analyze user " or " administrator ", and fourth user is " data analyze user " or " pipe
Reason person 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
Project information management module (149) is used to increase newly in systems using the user of system and/or editorial management Drug-gene pair item
Mesh information includes multiple Drug-gene pair projects in the Drug-gene pair project information management module (149), each described
Drug-gene pair project includes that a kind of or a kind of drug and one or more genes, the Drug-gene pair project information are used for
Premise is provided for system automatic identification and matching experimental file information and gene information；
" 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, " the pre-treatment mould of the sample information processing and analysis module (256)
Block " is used for the sample information of the user management experiment；Sample information processing at this time and analysis module (256) be usually by
" laboratory technician " 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 ", which includes at least, is used for people
Work audits the first unit of " pending report "；" first unit " is generally comprised to be used by two different " data analysts "
Family or " administrator " user's operation, including first trial expert and review expert.It is preferred that " post-processing module " further include for pair
System is determined as that the result of " suspicious " i.e. " unqualified " makes artificial judgement, determine the result whether He Ge second unit；Institute
" second unit " is stated generally by " technical support person " user's operation.It is preferred that " post-processing module " further includes for using
Other users of system manually determine that the result of " qualification " carries out manual review, to check whether the result is subjected to, and will answer
When core is subjected to for result, " third unit " of the result into system is filled out for choosing.The third unit generally by
" data analyst " user or " administrator " user's operation.And " first is single for " data analyst " that operates third unit and operation
The first trial expert of member " is generally the same expert.In the present invention, the result of " choosing fills out a result into system " is for example
For " 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 places
Manage 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), the information Auto-matching module (21) is used to the information in system being uploaded to the experimental result in system with user
File carries out Auto-matching and parsing；The sample information processing and analysis module (256) are used for user for experimental result file
It is uploaded in system and after system automatically parses experimental result file for artificial treatment sample information；
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) in second step, system and gene information automatic
With module (258) Auto-matching and judgement, if system can not determine；Third step, third user in sample information processing and analyze
Manually choosing fills out a result into system in module (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 described in manual examination and verification " pending report ", generate final use in sample information processing and analysis module (256)
In the genetic test report for instructing accurate medication.
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
Project information management module (149) is used to increase newly in systems using the user of system and/or editorial management Drug-gene pair item
Mesh information includes multiple Drug-gene pair projects in the Drug-gene pair project information management module (149), each described
Drug-gene pair project includes that a kind of or a kind of drug and one or more genes, the Drug-gene pair project information are used for
Premise is provided for system automatic identification and matching experimental file information and gene information；
" 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 steps through the invention
It realizes to the processing of sample information and providing for 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 not have
It is matched to 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 out
It writes " confirmation " button by frame and completes testing result editor.It, can be " can if it is considered to the site primer result can not determine
Doubt " filling in front of button fills in suspected cause in frame, then clicks " suspicious " button, determine 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, clicking the corresponding button " readable ", " again examine " or " moving back inspection ", completion suspect sites further according to processing result
Processing.
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, it has mentioned
The sample information of friendship cannot modify privately, and such as to modify needs to apply, and writes reason exactly, reply by examination & approval, Fang Kexiu
Change, to 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, experiment knot is uploaded
When fruit file, multiple experimental result files can be once selected, batch uploads.As an improvement of the above scheme, experimental result text
Part can specify experimental result ownership mechanism when uploading, same to realize to realize the ownership respectively of the experimental result of multiple mechanisms
The Quality Control of one mechanism is shared.As an improvement of the above scheme, after experimental result file uploads, the information of system automatic
Preliminary judgement can be done to the format and content of destination file with module 21, whether immediate feedback destination file can be normally used for
It automatically parses and abnormal cause.As an improvement of the above scheme, experimental result file upload when can automatically to filename into
Row duplicate checking 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
To scan for, download.
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.Make
For the improvement of above scheme, it can manually carry out forcing matched sample ID and detect program ID.As an improvement of the above scheme,
Result interpretation can manually be carried out.
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.It as an improvement of the above scheme, include the calculating of relevant item in system
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.Really
The real-time protecting examining report downloading and sending.As an improvement of the above scheme, the examining report downloading of miscellaneous editions is provided,
Including but not limited to word and PDF version.As an improvement of the above scheme, the report of downloading can specify sample information processing
And one or more attribute values in analysis module 256, for being named automatically the report file of downloading.As above scheme
Improvement, can to examining report carry out batch downloading.
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
Common screening keyword, automatic screening result in the form of a list click list in pending list block and realize by real-time exhibition
The inquiry of one key.As an improvement of the above scheme, wechat or QQ account that each pending list Real-time Feedback is specified to concerned account numbers,
It realizes real time monitoring, handles 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 gene identities identifying system, the system comprises information management module (1), information analysis and processing module (2),
Gene identities identification module (3), personal user's gene loci data memory module (4) and the storage of personal user's medication record data
Module (5), the information management module (1) include Drug-gene pair project information management module (149), the information analysis and
Processing module (2) includes 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, each Drug-gene pair project includes a kind of or a kind of drug and one or more genes, described
Drug-gene pair project information is used to provide premise for system automatic identification and matching experimental file information and gene information；
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；The information management module (1) and information analysis and processing module (2) collective effect are used to form guidance and precisely use
The genetic test of medicine is reported；
The gene identities identification module (3), personal user's gene loci data memory module (4) and personal user's medication record
Data memory module (5) is interrelated, can pass through system queries gene loci associated with it when for patient clinical medication
Data and medication record data are also used for after the related gene of patient has detected, and avoid subsequent gene detection business
It repeats to carry out.
2. 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.
3. 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.
4. system according to claim 1, which is characterized in that the sample information processing and analysis module (256) include
Pre-processing module of the experimental result file into system is uploaded for user；It further include being carried out certainly in system to experimental result file
The post-processing module of artificial treatment sample information is used for after dynamic parsing.
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 described according to claim 1~any one of 6, which is characterized in that the Drug-gene pair project information
Management module (149) is only open to the certain customers in system；Knowledge on drug abuse library information management module (150) is only to system
In certain customers it is open, be managed by " system manager " user of expert's grade.
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Cited By (3)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN110895963A (en) * | 2019-10-31 | 2020-03-20 | 深圳兰丁医学检验实验室 | Cell DNA quantitative determination system based on artificial intelligence |
| CN112614600A (en) * | 2020-12-31 | 2021-04-06 | 长沙三济生物科技有限公司 | Knowledge base system applied to accurate medication |
| CN112635014A (en) * | 2020-12-31 | 2021-04-09 | 长沙三济生物科技有限公司 | Intelligent reporting system applied to accurate medication |
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