CN106650256A - Precise medical platform for molecular diagnosis and treatment - Google Patents
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- CN106650256A CN106650256A CN201611186506.1A CN201611186506A CN106650256A CN 106650256 A CN106650256 A CN 106650256A CN 201611186506 A CN201611186506 A CN 201611186506A CN 106650256 A CN106650256 A CN 106650256A
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Abstract
The invention discloses a precise medical platform for molecular diagnosis and treatment. The precise medical platform comprises a user client, an information server and a gene detection server, wherein the user client is used for inputting the personal information of a to-be-detected user into the information server through a data network; the gene detection server is used for recording a gene detection result and inputting the gene detection result to the information server; the information server is used for extracting gene mutation information from the gene detection result through a high throughput analysis process; the high throughput analysis process is adopted for analyzing an original sequencing data and generating the specific gene mutation information; the information server is used for storing the personal information of the user, retrieving a database according to the gene mutation information and returning a retrieving result to the user client. The precise medical platform for molecular diagnosis and treatment disclosed by the invention is capable of integrating the links, such as, the generation of patient individual detection scheme, the laboratory gene detection, the detection data collection and analysis treatment, the comparison for analysis result and database and the generation of user report, so that the seamless connection of all the systems can be realized.
Description
Technical field
The invention belongs to genetic test applied technical field, and in particular to a kind of accurate medical science platform of molecule diagnosis and treatment.
Background technology
With the development of life science, molecular pathology detection is increasingly paid attention to by clinician, especially 2014 ASCO and
It is even more further provides in CSCO meetings and first to do genetic test before determination tumour diagnosis and treatment scheme.Technique of gene detection is domestic
It is outer highly developed, domestic such company include Hua Da gene, Bei Rui He Kang, peace promise it is excellent up to and Guangzhou benefit it is kind etc..At present, limit
Technique of gene detection processed clinically extensive popularization and application, in addition to instrument and equipment itself, clinician lacks correlation and knows
It is principal element that genetic test result can not be converted into clinical practice application by knowledge and detection company.Foreign countries provide such service
Company has：(1) DNAnexus, is a DNA data storage companies.User is stored to sequencing data on its server, company with
Extremely low price provides the data analysis service of standard.The business model of DNAnexus is a large amount of original product by DNA data
Tired, mass data carries out big data analysis, so as to find out the rule of behind, serves health industry.(2)Flatiron
Health, is a big data medical oncology industry company for being found in 2012, has completed 1.3 hundred million dollars of B wheels at present and has melted
Money, is thrown by Google of risk investment mechanism risk investment (Google Ventures) neck under Google, and what it was aimed at is the number of tumors of cancer patient
According to.At present, only 4% cancer patient can participate in clinical testing, and this also implies that the treatment information of 96% cancer sufferer
It is to obtain easily.And what Flatiron Health were doing, it is exactly to collect clinical and gene data, the treatment of patient
Then these information are presented to oncologist by as a result, treatment written notes and expense of doctor etc., analyze the effect of passing treatment
The new treatment means of fruit and research.The whole America is currently in use the number of Flatiron Health now with about 1000 oncologists
According to.(3) BaseSpace, is the cloud computing platform of Illumina innovations, possesses 6 independent data analysis application programs：Resurvey
Sequence, amplicon sequencing, the grand genomes of 16S, de novo assembling, microRNA and library QC.Currently with Illumina
Experiment Manager (Illumina experiment managers), required analysis is chosen when sample is arranged, and operation starts
Afterwards data are just transmitted directly to BaseSpace.Once sequencing operation is completed, BaseSpace automatically begins to run the analysis specified,
Without the need for user intervention.Analysis is completed within a few houres, and automatically generates report.Basespace not only can be with MiSeqTMSystem and
Other Illumina microarray datasets are directly integrated, and provide data analysis, storage and shared preferable cloud scheme.In state
It is interior, in the database and bioinformatic analysis of gene sequencing industrial chain middle and lower reaches, especially in combination with clinic diagnosis scheme
Industry service be still in the starting stage, the country needs a kind of plateform system badly can be by gene data and other outside public diseases
Database, drug data base and diagnosis and treatment scheme database are combined analysis, and consider gene mutation to chemotherapeutics, medicine
The impact and validity of thing toxicity and immunization therapy, to help clinicians make to go out more accurate personalized medicines scheme.
The content of the invention
The present invention provides a kind of accurate medical science platform of molecule diagnosis and treatment for the demand, and the main platform body is that tumour is individual
The accurate medical science platform of chemoattractant molecule diagnosis and treatment, it is therefore an objective to provide individualized treatment service for cancer patient, service object mainly includes facing
Bed doctor, cancer patient and third party testing agency.Whole platform is by Database Systems, detection data collection and analyzes system
System, chip-stored system and EBM decision analysis systems composition.This platform generates individual's detection scheme, laboratory base
Because of detection, the links that detection data is gathered and analyzing and processing, analysis result and database are compared and user report is generated
It is integrated together, it is achieved thereby that the seamless connection between each system.Eventually through platform and doctor, patient and associated mechanisms
Intelligent terminal is synchronously connected, there is provided service towards personal (B2C) and towards the individuation molecular therapy of mechanism (B2B).
The purpose of the present invention is achieved through the following technical solutions：
A kind of accurate medical science platform of molecule diagnosis and treatment, the accurate medical science platform of the molecule diagnosis and treatment includes subscription client, information
Server, genetic test server；
Wherein, the client is input to the personal information of user to be detected in information server by data network；
The genetic test server record genetic test raw sequencing data is simultaneously examined the gene by data network
Survey raw sequencing data and be input to information server；
The personal information of user described in described information server storage, while according to the genetic test result retrieval data
Storehouse, and retrieval result is returned into subscription client.
In an embodiment of the invention, the subscription client includes patient customer end and doctor client
End.
In an embodiment of the invention, the patient customer end and doctor's client pass through data communication network
Network interactive access；Described information server is by clinician information from the interrogation case of doctor's client upload and the state of an illness of patient
Matched, and corresponding clinician information is pushed into patient customer end by data network；Preferably, information server will be cured
Teacher's information generates detection scheme and passes through after being matched with the state of an illness of patient from the interrogation case of doctor's client upload
Data communication network is pushed to laboratory, and laboratory is completed after detection, and detection raw sequencing data passes through genetic test server
Information server is uploaded to, the process of Jing information servers generates examining report, and corresponding examining report is passed through into data network
It is pushed to patient customer end and doctor's client.
In an embodiment of the invention, the accurate medical science platform of the molecule diagnosis and treatment also sets including genetic test
It is standby；The gene detection equipment will detect that raw sequencing data is automatically entered into genetic test server.
In an embodiment of the invention, described information server is by high throughput analysis flow process in the base
Gene mutation information is extracted in because detecting raw sequencing data；Preferably, the high throughput analysis flow process can be by the gene
Detection service device obtains the gene mutation information that raw sequencing data analysis generates into concrete gene.
In an embodiment of the invention, customer identification information is included in the gene mutation information；It is described
Information server is by the customer identification information by the information of gene mutation information input to correspondence user.
In an embodiment of the invention, the database is the local of aol server or information server
Database；The database is selected from gene data library module, disease data library module, drug data library module and diagnosis and treatment scheme number
One or more according to library module；
Wherein, the gene data library module includes the marker gene information related to disease；Preferably, the mark base
Because packet containing the one kind in the genetic information of mankind's major disease, diagnostic gene information and therapeutic targets gene information or
It is various；
The disease data library module includes the disease information with the marker gene information association；Preferably, the disease
Sick information is tumor information；
The drug data library module includes the individuation medicine associated with the disease information；Preferably, described
Body chemical drug thing is the individuation medicine associated with tumor information；
The diagnosis and treatment protocol library module includes the diagnostic recommendations for disease, personalized medicines scheme and health care side
Case；
Preferably, the gene data library module, disease data library module, drug data library module and diagnosis and treatment protocol
The equal real-time update of database information in library module.
In an embodiment of the invention, the disease information in the disease data library module and corresponding disease
Sick marker gene or genetic mutation information are associated；Drug information in the drug data library module and the disease database
Corresponding disease information and gene or genetic mutation information in module is associated；Examining in the diagnosis and treatment protocol library module
Treatment scheme is associated with drug information and gene or genetic mutation information in the drug data library module.
In an embodiment of the invention, described information server will detect raw sequencing data and database
In information compare and index and return final examining report；In the final examining report comprising marker gene state,
One or more in the disease information, drug information and the diagnosis and treatment scheme information that associate with the marker gene.
Invention further provides a kind of method for carrying out genetic test using the accurate medical science platform of above-mentioned molecule diagnosis and treatment,
Methods described includes that testing result and gene data library module are compared operation to be confirmed whether to there is mark by information server
Will gene；If comparing operation does not find marker gene, further retrieval is not performed；If comparing operation finds one or many
Individual marker gene, then further perform retrieval disease data library module, drug data library module and diagnosis and treatment protocol library module
In one or more.
Compared with prior art, the present invention at least has advantages below：
The present invention the accurate medical science platform of molecule diagnosis and treatment by the generation of individual's detection scheme, laboratory genetic test,
The links that detection data is gathered and analyzing and processing, analysis result and database are compared and user report is generated are incorporated into one
Rise, it is achieved thereby that the seamless connection between each system.Eventually through platform and the intelligent terminal of doctor, patient and associated mechanisms
It is synchronous to be connected, there is provided to service towards personal (B2C) and towards the individuation molecular therapy of mechanism (B2B).
Description of the drawings
Fig. 1 is the flow chart for carrying out molecular therapy of the accurate medical science platform of molecule diagnosis and treatment according to the present invention；
Fig. 2 is the integrated stand composition for carrying out molecular therapy of the accurate medical science platform of molecule diagnosis and treatment according to the present invention.
Specific embodiment
With reference to the accompanying drawings and examples the invention will be further described, and following examples are descriptive, are not
It is determinate, it is impossible to which that protection scope of the present invention is limited with this.
Fig. 1 show the flow chart for carrying out molecular therapy of the accurate medical science platform of molecule diagnosis and treatment of the invention.Such as Fig. 1
Shown, the main platform body is the accurate medical science platform of tumour individuality chemoattractant molecule diagnosis and treatment, it is therefore an objective to provides individuation for cancer patient and controls
Service is treated, service object mainly includes clinician, cancer patient and third party testing agency.Whole platform includes user visitor
Family end, information server 101, genetic test server 104.Wherein, subscription client can include patient customer end 102 and doctor
The personal information of user to be detected is input to information server by teacher's client 103, the subscription client by data network
In 101；The record genetic test raw sequencing data of genetic test server 104 is simultaneously examined the gene by data network
Survey result and be input to information server 101；Described information server 101 passes through the just described genetic test of high throughput analysis flow process
Raw sequencing data analysis generates gene mutation information；Described information server 101 stores the personal information of the user, while
According to the gene mutation DIALOG information retrieval database DIALOG, and retrieval result is returned into subscription client.This platform is by individual patients
Change detection scheme generations, laboratory genetic test, detection data collection and analyzing and processing, analysis result and database compare and
The links that user report is generated are integrated together, it is achieved thereby that the seamless connection between each system.Eventually through platform
It is synchronous with the intelligent terminal of doctor, patient and associated mechanisms to be connected, there is provided towards personal (B2C) and towards the individual of mechanism (B2B)
The treatment service of body chemoattractant molecule.As shown in Figure 1, the accurate medical science platform of molecule diagnosis and treatment of the invention can be according to below scheme
Operation, when patient seeks medical advice first, doctor is registered by doctor's client 103 and is uploaded patient disease information and intends detection side
Case, while the clinical samples of collection are sent to genetic test mechanism, information server 101 is automatically generated according to detection scheme is intended
Genetic test scheme, genetic test server 104 receives the genetic test scheme that generated by information server 101 and is sent to base
Because of testing agency, genetic test mechanism is detected according to the genetic test scheme and is uploaded detection raw sequencing data result
To genetic test server 104；Genetic test baseline results are uploaded to information server 101 by genetic test server 104, letter
Breath server 101 automatically analyzes the result of laboratory submission, and according to the medical record information of patient, by result and core database
Data automatic comparison analysis, obtain corresponding diagnosis and treatment scheme and be supplied to clinician.Patient directly can also voluntarily register
Patient customer end 102, uploads the disease information of patient and detection sample is sent into genetic test mechanism, information server 101
The patient medical record information uploaded according to patient customer end 102 generates genetic test scheme, and is sent by genetic test server 104
To genetic test mechanism, genetic test mechanism is detected according to the genetic test scheme, and testing result is uploaded into gene
Genetic test baseline results are uploaded to information server 101, information service by detection service device 104, genetic test server 104
Device 101 automatically analyzes the result of laboratory submission, and according to the medical record information of patient, by the data in result and core database
Automatic comparison is analyzed, and is obtained corresponding therapeutic scheme and is fed back to patient customer end 102.Patient customer end 102 can be with doctor
Teacher's client 103 carries out interaction to further appreciate that the state of an illness and diagnosis and treatment scheme.Further, described information server 101 passes through
High throughput analysis flow process extracts gene mutation information in the genetic test raw sequencing data；Further, the high pass
The genetic test server 104 is obtained the gene mutation letter that raw sequencing data analysis generates concrete gene by amount analysis process
Breath.When it is that a generation is sequenced initial data to detect raw sequencing data, target gene can be compared by blast and obtain mutation letter
Breath；When detection raw sequencing data is two generation sequencing datas, effective sequencing data can be obtained by filter softwares such as fastqc,
Effective sequencing data is compared to reference gene group by BWA (Li H et al.) and Samblaster again, obtains bam forms
Comparison result file, through samtools, GATK, Crest, Breakdancer, annovar, Control-freec and
The software processings such as muTect2, obtain abrupt information.In order to quickly recognize the user corresponding to genetic test result, in gene
Customer identification information can be included in abrupt information；Described information server 101 dashes forward gene according to the customer identification information
Change information input is in the information of correspondence user.
Fig. 2 show the integrated stand composition for carrying out molecular therapy of the accurate medical science platform of molecule diagnosis and treatment of the invention.
The accurate medical science platform of molecule diagnosis and treatment of the present invention includes DBM, information server and genetic test server.Wherein, believe
Breath server is automated analysis platform 201, and genetic test server is patient's testing result database 202, and database mould
Block then includes gene database 203, disease database 204, drug data base 205 and diagnosis and treatment scheme database 206.In gene number
According in storehouse 203 at least include data below information：Point mutation information 207, embedded and missing information 208, copy number change information
209th, it is inverted and dystopy information 210, gene expression spectrum information 211 and transcripton variation information 212.In disease database 204
In at least include data below information：Variation and disease information 213, variation and diagnostic message 214, variation and prognosis information 215
And disease research information 216 etc..Data below information is included at least in drug data base 205：Variation and targeted drug letter
Breath 217, variation and resistance information 218, variation and curative effect monitoring information 219 and variation and treatment information 220.In diagnosis and treatment scheme
Following information is included at least in database 206：Variation and scheme selection information 221, variation and scheme use information 222 and change
It is different to change information 223 with scheme.Following information is included at least in patient's testing result database 202：Patient medical record information
224th, genetic test result data 225 and patient outcomes' information 226.Based on above-mentioned DBM, information server
Two parts data source, i.e. external data research 227 and internal data research 228 are formed with genetic test server.External number
According to the study 227, i.e., by public database and clinic study data in literature to gene, disease, medicine and diagnosis and treatment scheme
Information is excavated, is collected, classified and stored；Internal data research 228, i.e., enter to passing patient detection and therapeutic effect data
Row is excavated, collects, classifies and stored.
Above-mentioned Database Systems are by disease type, major disease related gene, tumor-marker gene, marker gene variation
Type, drug type, drug information, medicine principle, guiding medication marker gene, clinical evidence, data source and document, mark
The detection of will genetic mutation, mutation detection method, tumour immunity diagnosis and treatment scheme etc. are constituted, and are individualized cancer diagnosis and phase therewith
Clinical data is provided with diagnosis and treatment scheme to support, related index is as follows：
A) gene database
The retrieval of internal authority publication, checking, include the marker gene information of correlation, cover the hereditary base of mankind's major disease
Because of information, diagnostic gene information, therapeutic targets gene information etc., human body all known gene informations are almost included.Fit in the storehouse
Shi Gengxin.
B) disease database
Classifying the current whole world according to Mesh, the related neoplasms title with genetic marker information and its content are all received
Record is come in, and with reference to Ministry of Public Health's disease name carry out sort out refinement form.Almost cover the full detail for being currently known tumour.Should
Storehouse timely replacement.
C) drug data base
According to disease and gene database content, clinical gene associated treatment internal authority document is retrieved, and verified one by one
Typing afterwards；The individuation medicine (containing targeting, chemotherapeutics) of the medicine manufacturer of 20 before the world is all sorted out into income.And
Timely replacement.
D) diagnosis and treatment scheme database
Data above storehouse forms automated analysis platform by the powerful server in research center can be direct for disease
Generate and be adapted to the individualized treatment care plans of itself.
The data collection and analysis platform of the application the various variations in gene (group) sequence can be made accurately analysis and
Judge.To tumor patient, system is found out and most preferably uses prescription to tumor disease according to genetic mutation situation and patient's pathological data
Case.
Each analysis of variance all modularizations, can as needed carry out independent operating and analysis.Whole analysis platform
Using the dynamic of cloud computing and internet, on demand, easy extension way provide required service.The platform includes system core data
Management tool, user program interface and new system developing instrument, audit trail and numerous analysis of biological information modules.
Various management tools, analysis tool and third-party application etc. can be integrated on this application development platform.
The application can also include EBM decision analysis systems, and the base for obtaining is automatically analyzed according to Data Analysis Services system
Because making a variation, result is analyzed with the data automatic comparison in core database, and for corresponding tumor patient individuation treatment of cancer is provided
Information service.
More than, the only present invention preferably specific embodiment, but the protection domain invented is not limited thereto, any ripe
Know those skilled in the art the invention discloses technical scope in, the change or replacement that can be readily occurred in all should be contained
Cover within protection scope of the present invention.Therefore, protection scope of the present invention should be defined by the protection domain of claims.
Claims (10)
1. the accurate medical science platform of a kind of molecule diagnosis and treatment, it is characterised in that the accurate medical science platform of the molecule diagnosis and treatment includes user visitor
Family end, information server, genetic test server；
Wherein, the client is input to the personal information of user to be detected in information server by data network；
The genetic test server record genetic test raw sequencing data is simultaneously former by the genetic test by data network
Beginning sequencing data is input to information server；
The personal information of user described in described information server storage, while according to the genetic test result retrieval database,
And retrieval result is returned into subscription client.
2. the accurate medical science platform of molecule diagnosis and treatment as claimed in claim 1, it is characterised in that the subscription client includes patient
Client and doctor's client.
3. the accurate medical science platform of molecule diagnosis and treatment as claimed in claim 1 or 2, it is characterised in that the patient customer end and doctor
Teacher's client passes through data communication network interactive access；Described information server is by clinician information from doctor's client upload
Interrogation case matched with the state of an illness of patient, and corresponding clinician information is pushed into patient customer by data network
End；Preferably, information server carries out clinician information from the interrogation case of doctor's client upload and the state of an illness of patient
Detection scheme is generated after matching and laboratory is pushed to by data communication network, laboratory is completed after detection, detects original survey
Ordinal number is uploaded to information server according to by genetic test server, Jing information servers process generation examining report, and by phase
The examining report answered is pushed to patient customer end and doctor's client by data network.
4. the accurate medical science platform of molecule diagnosis and treatment as any one of claims 1 to 3, it is characterised in that the molecule is examined
Treating accurate medical science platform also includes gene detection equipment；The gene detection equipment will detect that raw sequencing data is automatically entered into
Genetic test server.
5. the accurate medical science platform of molecule diagnosis and treatment as any one of Claims 1 to 4, it is characterised in that described information takes
Business device extracts gene mutation information by high throughput analysis flow process in the genetic test raw sequencing data；Preferably, institute
State high throughput analysis flow process the gene that the genetic test server obtains the concrete gene of raw sequencing data analysis generation is dashed forward
Change information.
6. the accurate medical science platform of molecule diagnosis and treatment as claimed in claim 5, it is characterised in that include in the gene mutation information
Customer identification information；Described information server is by the customer identification information by gene mutation information input to correspondence user's
In information.
7. the accurate medical science platform of molecule diagnosis and treatment as any one of claim 1～6, it is characterised in that the database
For aol server or the local data base of information server；The database is selected from gene data library module, disease database
One or more in module, drug data library module and diagnosis and treatment protocol library module；
Wherein, the gene data library module includes the marker gene information related to disease；Preferably, the marker gene letter
One kind or many in genetic information of the breath comprising mankind's major disease, diagnostic gene information and therapeutic targets gene information
Kind；
The disease data library module includes the disease information with the marker gene information association；Preferably, the disease letter
Cease for tumor information；
The drug data library module includes the individuation medicine associated with the disease information；Preferably, the individuation
Medicine is the individuation medicine associated with tumor information；
The diagnosis and treatment protocol library module includes the diagnostic recommendations for disease, personalized medicines scheme and care plans；
Preferably, the gene data library module, disease data library module, drug data library module and diagnosis and treatment scheme database mould
The equal real-time update of database information in block.
8. the accurate medical science platform of molecule diagnosis and treatment as claimed in claim 7, it is characterised in that in the disease data library module
Disease information is associated with corresponding stigmata gene or genetic mutation information；Medicine letter in the drug data library module
Cease and be associated with the corresponding disease information and gene or genetic mutation information in the disease data library module；The diagnosis and treatment side
Drug information and gene or genetic mutation information in diagnosis and treatment scheme in case DBM and the drug data library module
It is associated.
9. the accurate medical science platform of molecule diagnosis and treatment as claimed in claim 8, it is characterised in that described information server will detect former
Information in beginning sequencing data and database is compared and indexes and return final examining report；In the final examining report
In the disease information, drug information and the diagnosis and treatment scheme information that associate with the marker gene comprising marker gene state one
Plant or various.
10. a kind of accurate medical science platform of utilization molecule diagnosis and treatment as any one of claim 1～9 carries out the side of genetic test
Method, methods described includes that testing result and gene data library module are compared operation to be confirmed whether to exist by information server
Marker gene, it is characterised in that if comparing operation finds one or more marker gene, further perform retrieval disease data
One or more in library module, drug data library module and diagnosis and treatment protocol library module.
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Cited By (16)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN107169285A (en) * | 2017-05-16 | 2017-09-15 | 中国医学科学院北京协和医院 | A kind of course of disease information mobile collection system complete in real time and acquisition method |
| CN107220885A (en) * | 2017-06-20 | 2017-09-29 | 明码（上海）生物科技有限公司 | A kind of genetic test Product Reporting System and method |
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| CN107437004A (en) * | 2017-08-07 | 2017-12-05 | 深圳华大基因研究院 | A kind of system intelligently understood for tumour individuation genetic test |
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| CN108399939A (en) * | 2018-05-31 | 2018-08-14 | 周倩珍 | It is that the personal health being oriented to manages system based on genetic test |
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| CN111667924A (en) * | 2019-03-07 | 2020-09-15 | 希森美康株式会社 | Method for assisting medical worker in interpreting gene information, information management system, and integrated data management device |
| US11881318B2 (en) | 2019-03-07 | 2024-01-23 | Sysmex Corporation | Method of supporting interpretation of genetic information by medical specialist, information management system, and integrated data management device |
| US11908589B2 (en) | 2019-03-07 | 2024-02-20 | Sysmex Corporation | Method of supporting interpretation of genetic information by medical specialist, information management system, and integrated data management device |
| CN113728392A (en) * | 2019-03-14 | 2021-11-30 | 医科达有限公司 | Automatic cancer registry record generation |
| CN112289453A (en) * | 2019-07-23 | 2021-01-29 | 上海市儿童医院 | Clinical cooperation cloud platform system |
| CN112133430A (en) * | 2020-10-15 | 2020-12-25 | 丁玉 | Clinical biochemical dynamic monitoring system |
| CN112599210A (en) * | 2020-12-16 | 2021-04-02 | 首都医科大学附属北京同仁医院 | Data management method and device, electronic equipment and storage medium |
| CN112599210B (en) * | 2020-12-16 | 2022-04-12 | 首都医科大学附属北京同仁医院 | Data management method and device, electronic equipment and storage medium |
| CN112800043A (en) * | 2021-02-05 | 2021-05-14 | 凯通科技股份有限公司 | Internet of things terminal information extraction method, device, equipment and storage medium |
| CN113345543A (en) * | 2021-07-01 | 2021-09-03 | 上海市第一人民医院 | Suggestion generation method and system based on patient information |
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