WO2004109551A1 - Systeme fournisseur d'informations et programme utilisant des informations relatives a une sequence de base - Google Patents

Systeme fournisseur d'informations et programme utilisant des informations relatives a une sequence de base Download PDF

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Publication number
WO2004109551A1
WO2004109551A1 PCT/JP2003/007147 JP0307147W WO2004109551A1 WO 2004109551 A1 WO2004109551 A1 WO 2004109551A1 JP 0307147 W JP0307147 W JP 0307147W WO 2004109551 A1 WO2004109551 A1 WO 2004109551A1
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WIPO (PCT)
Prior art keywords
information
database
information providing
disease
base sequence
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PCT/JP2003/007147
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English (en)
Japanese (ja)
Inventor
Hiroki Ihara
Toshiaki Yokobayashi
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Hitachi High-Technologies Corporation
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Application filed by Hitachi High-Technologies Corporation filed Critical Hitachi High-Technologies Corporation
Priority to JP2005500552A priority Critical patent/JPWO2004109551A1/ja
Priority to PCT/JP2003/007147 priority patent/WO2004109551A1/fr
Publication of WO2004109551A1 publication Critical patent/WO2004109551A1/fr

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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
    • G16B50/00—ICT programming tools or database systems specially adapted for bioinformatics
    • 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
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • 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
    • G16B50/00—ICT programming tools or database systems specially adapted for bioinformatics
    • G16B50/20—Heterogeneous data integration
    • 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
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection

Definitions

  • Japanese Patent Application Laid-Open No. 2000-67139 describes a system for estimating a disease that a patient is currently developing or may develop in the future from the patient's genetic information and the patient's medical examination information.
  • the disease estimating means reads out the patient's gene database and the information stored in the medical data base, searches the patient's genetic information and the correlation table that stores the correlation between the diagnosis information and the disease, and searches for the disease. Extract and display the most likely diseases. Further, based on the accumulated information, the disease estimating means extracts a new correlation and adds it to the correlation table.
  • Japanese Patent Application Laid-Open No. 2002-107366 describes a diagnosis support system for estimating a disease using a light emission pattern of a DNA microarray.
  • An information processing system includes a database in which a correlation between base sequence-related information and phenotype information is stored and updated at a predetermined timing.
  • An information providing terminal that receives a request from the database and obtains information corresponding to the request from the database; and a user terminal that is operated by a system user and transmits a request to the information providing terminal.
  • the information providing terminal acquires information according to the request at regular intervals and / or at every update of the database.
  • the user can obtain effective and up-to-date information on the correlation between genetic information and a disease, and can quickly ascertain a new disease or disease risk.
  • FIG. 1 is a configuration diagram schematically showing an information providing system to which the present invention is applied.
  • FIG. 2 is a configuration diagram showing an internal configuration of the information providing system shown in FIG.
  • FIG. 3 is a configuration diagram showing a network configuration of the information providing system shown in FIG.
  • FIG. 4 is a configuration diagram showing a genetic information database.
  • FIG. 5 is a configuration diagram showing a patient database.
  • FIG. 6A is a configuration diagram showing a disease database.
  • FIG. 6B is a configuration diagram showing a disease history database.
  • FIG. 7a is a configuration diagram showing a disease search service database.
  • FIG. 7B is a configuration diagram showing a database for each update.
  • FIG. 7C is a configuration diagram showing a database for a certain period.
  • FIG. 7D is a configuration diagram showing a search result database.
  • FIG. 8 is a configuration diagram showing an ID conversion table.
  • FIG. 12 is a diagram showing a search result screen for presenting a search result to a medical institution.
  • FIG. 13 is a diagram showing a search result screen for presenting a search result to a patient.
  • FIG. 14 is a flowchart in the case of performing a disease search at regular intervals.
  • FIG. 15 is a configuration diagram schematically showing another example of the information providing system to which the present invention is applied.
  • FIG. 16 is a configuration diagram showing the internal configuration of the information providing system shown in FIG.
  • FIG. 17 is a configuration diagram schematically showing another example of the information providing system to which the present invention is applied.
  • FIG. 20 is a configuration diagram schematically showing another example of the information providing system provided with the present invention.
  • 101... Disease search organization 102... Disease search department, 110... Medical institution, 111... Genetic test department, 112... Diagnosis department, 120... Patient, 130... Reception department, 201... Genetic test means, 202... Test database, 203: Gene information database, 204: Patient database,
  • 205 Patient database update
  • 206 Disease database
  • 207 Disease search service database
  • 208 ID conversion database
  • 209 Disease search means
  • 210 Notification means
  • 301 (302): Internet, 310 (320, 330, 340)... Network, 311 (331)... Getwey, 321... Server, 350... Information terminal, 501... Application screen for disease search service
  • the information provider uses the database in which the correlation between the nucleotide sequence-related information and the phenotype information is stored, and in accordance with the request from the system user, provides the information provider with the system user or a third party. Describe the system that provides information.
  • nucleotide sequence-related information refers to a nucleotide sequence that differs between individuals. Means related information.
  • nucleotide sequence-related information includes single nucleotide polymorphisms
  • nucleotide sequence-related information is not limited to the above-mentioned polymorphisms, but also includes bases present at a frequency of less than 1% in an individual species and base sequence differences (also called variations). Furthermore, the nucleotide sequence-related information is not limited to the above-described polymorphisms and variations, but also includes haplotypes that are combinations of those present in one gamete among a plurality of linked polymorphisms.
  • the nucleotide sequence-related information can be expressed, for example, as a combination of a gene name code and a value.
  • the gene name code is a code indicating the position where the difference in the base sequence exists or the gene name.
  • the value is a value representing the type or pattern of a polymorphism or the like that can be taken in a predetermined gene name code.
  • the value can be represented by any one of “AA”, “GG” and “AG”, for example, in a polymorphism known to take A or G.
  • the polymorphism when the polymorphism is a microsatellite, a numerical value representing the “number of repetitions” is used, and when the polymorphism is an insertion / deletion type, the value is represented by a symbol “present / absent”. You may.
  • the value may not be a direct expression of a possible pattern, but may be an indirect expression. That is, for example, the value is expressed as 'Allele 1' when taking 'A' at a polymorphism address known to take A or G, and 'Arenorre 2' when taking GJ Is also good.
  • the phenotypic information is information associated with nucleotide sequence-related information, such as responsiveness to a drug, side effects to a drug, risk for a disease or disorder, physical constitution / characteristics, and lifestyle based on physical constitution / characteristics. It means various information resulting from differences in nucleotide sequence-related information, such as adapice and protein interaction.
  • the phenotypic information is the type of information whose type increases and is corrected as research on the genome and genes progresses.
  • the database storing the correlation between the nucleotide sequence-related information and the phenotypic information is stored at regular time intervals or new knowledge in order to reflect new knowledge obtained from genomic and gene research. It is updated each time it is obtained.
  • the term “update” means to include addition of a new correlation between the nucleotide sequence-related information and phenotype information and correction of a known correlation.
  • the system user is not limited to an individual, and may be a corporation or various organizations, or a third party entrusted by these individuals, corporations and various organizations.
  • a terminal operated by a system user to access this system is called a user terminal.
  • the information provider provides desired information to a system user or a third party other than the system user by a process described in detail below.
  • a terminal operated by an information provider and providing information by this system is referred to as an information providing terminal.
  • the database described above may belong to the information provider and be configured as a part of the information processing terminal. Alternatively, the database described above may belong to a person other than the information provider and be accessed by the information processing terminal via a communication network such as the Internet.
  • a disease search organization 101 (information provider) having an information provision terminal and a disease search organization 101 are provided.
  • a system that includes a medical institution 110 that performs gene detection and diagnosis based on the obtained information, and a patient 120 that is a system user.
  • the disease search organization 101 accepts the application for the disease search service from the patient 120, substitutes for the examination on behalf of the patient 120 for the medical institution 110, searches for the disease after a certain period of time, It reports search results and manages and operates the disease information database.
  • the medical institution 110 is composed of a diagnosis section 112 and a genetic test section 111.
  • the diagnostic department 112 examines the patient 120, requests the genetic test department 111 to perform a test, and makes a diagnosis based on the gene test result reported from the genetic test department 111.
  • the Genetic Testing Division 1 11 collects samples from patients 120, conducts genetic tests, and stores samples.
  • FIG. 2 shows a configuration example of the entire information providing system to which the present invention is applied.
  • the information providing system consists of a patient database 204 that stores patient attribute information such as patient ID, patient name, gender, date of birth, and address, and patient information that inputs patient attribute information to the patient database 204.
  • Disease database 206 storing correlations, disease database updating means 205 updating disease database 206, and diseases storing patient's application for disease search service Search service database 207, disease search service application means 2 12 for inputting application contents to disease search service database 207, patients managed by medical institution 110 and disease search institution 101 ID conversion table 208 storing correlation of identification information; disease search means 209 for reading information from disease search database 206 and gene information database 203 to search for disease; disease search means And a notifying means 210 for notifying the search result obtained by 209.
  • Figure 3 shows the network configuration in the information provision system configured as described above. That is, the information providing system can be constructed by connecting the medical institution 110, the disease searching institution 101, and the patient 120 so as to be able to communicate with each other via a network.
  • the medical institution 110 includes a patient database 204, an examination request database 202, and a genetic information database 203, and is interconnected by an internal network 340.
  • the test request database 202 and the gene information database 203 are further connected to another network 330, and are connected to the external network 301 via the gateway 331.
  • the external network 301 can be constructed by a dedicated network or the Internet. When the external network 301 is constructed using the Internet, it is desirable to secure high security by introducing VPN and the like.
  • the disease search organization 101 has a disease database 206 and disease search service data It has a base 207 and an ID conversion table 208, and is mutually connected by an internal network 310.
  • the gateway 311 is connected to the internal network 310, and is connected to the network 301 via the gateway 311.
  • the disease search service database 207 is also connected to another network 320, and patients 120 who access the web server 321 can use the information terminal 355 such as a personal computer or a mobile terminal to access the Internet 340.
  • When patients apply for a disease search service via the Internet it is desirable to ensure security using encryption technology such as SSL.
  • the network configuration shown here is an example and is not limited to this.
  • the genetic information database 203 stores at least a patient ID for identifying a patient, a test code for identifying a genetic test item, and a test result in association with each other. Further, the genetic information database 203 may be a database in which information such as a sample ID for identifying a sample and a date and time of a test performed is associated with each other. It is desirable that the genetic information database 203 does not include information such as a patient's name and address that can easily identify an individual. Identifying patients by patient ID without having information that can easily identify individuals ensures leakage of patient personal information even if unauthorized access to genetic information database 203 occurs. Can be prevented.
  • the patient database 204 stores the patient ID in association with information specifying the individual such as the patient's name, address, gender, and date of birth.
  • information specifying the individual such as the patient's name, address, gender, and date of birth.
  • the medical institution 110 connects the information stored in the genetic information database 203 and the information stored in the patient database 204 via the internal network 340 based on the patient ID. be able to.
  • the disease database 206 stores, as shown in FIG. 6A, a disease code meaning an identifier for identifying various diseases and base sequence-related information in association with each other.
  • the nucleotide sequence-related information is composed of a gene name code indicating a gene or polymorphism associated with the disease, and a numerical or symbolized value of the state or polymorphism of the gene.
  • the base sequence-related information is provided as an SNP and the base that the SNP can take is C or T, it is described as CC, TT, or CT. If the polymorphism is due to the number of iterations found in microsatellite, the number of iterations is described.
  • the disease database 206 preferably has a disease history database shown in FIG. 6b.
  • the disease history database stores information relating to the update of the disease database 206 shown in FIG. 6A. Specifically, the update date, the version of the disease database 206, the updated disease code, the updated gene name code, the content of the update, and the pre-update content changed by the update are associated with each other.
  • Disease search service database 2 0 7, as shown in FIG. 7 a the name of the system user, a customer ID is assigned to each system user, the system user address, and sample storage presence, additional fields The presence / absence of notification, the presence / absence of retest of the same item, and the search period are stored in association with each other.
  • the presence / absence of an additional item is defined as the case where a relationship between a specific system user and a disease is presumed by the system, and the base sequence-related information of the system user recorded in the genetic information database 203. This is information indicating whether or not the need for additional genetic testing is notified when this is not enough.
  • the presence or absence of additional items is described based on the intention of the system user.
  • the types of base sequence-related information stored in the disease database 206 will increase.
  • system users can It is possible to receive an accurate diagnosis based on the information.
  • the same item retest is information indicating whether or not to retest a genetic test item that has already been tested. Same item reinspection is still c describing based on intention system user can be assumed that the genetic test ⁇ degree over time advances like genetic analysis technologies continue to improve.
  • the base sequence-related information stored in the genetic information database 203 is updated, so that a more accurate diagnosis of the use of the system can be obtained.
  • the search period is information indicating a period until the next search is executed in executing the search service at regular intervals.
  • the search period is information indicating an intention to execute a search every time the genetic information database 203 is updated. Search organizations are described based on the intentions of system users.
  • the disease search service database 2007 preferably includes a database for each update shown in FIG. 7B.
  • the database for each update stores, in association with the system user who has indicated the intention to receive this service every time the disease database 206 is updated, a customer ID and a disease code indicating the disease to be searched for in association with each other.
  • the disease search service database 2 • 7 includes a database for a certain period shown in FIG. 7c.
  • Certain period database according to a fixed period of time described in the search period of the disease search service database 2 0 7, which is a database that is created for the system user to receive this service One cotton in multiple times.
  • the database for a certain period associates the customer ID, the next date indicating the next service implementation date, the disease code indicating the disease to be searched, and the purge database of the disease database 207 used in the previous search. Stored.
  • the next date is the date when the previous search service was executed plus the search period.
  • the disease search database 2007 preferably includes a search result database shown in FIG. 7d.
  • the search result database stores the search results of this service for each system user.
  • the search result database contains the customer ID, the disease code, the gene name code of the system user who matched the disease, the matching rate calculated by this service, and the disease database used for the search.
  • the DB version, version 07 is stored in association with the search date, which is the date on which the search was performed. If the system user has accepted the additional items, the gene name code corresponding to the additional items may be stored in this search result database.
  • the ID conversion table 208 stores the correspondence between the patient ID assigned to the system user at the medical institution 110 and the customer ID assigned at the disease search institution 101. This is the described table.
  • the disease search organization 101 converts the customer ID into a patient ID when transmitting the search results related to the system user to the medical institution 110, and From 10 it receives information about the system user along with the patient ID, and converts the received patient ID into a customer ID.
  • the system configured as described above can provide information according to the processing flow shown in FIG.
  • the system user that is, the patient 120
  • the patient 120 makes an application using, for example, a disease search service application screen 501 shown in FIG.
  • the disease search service application screen 501 has an input section 502 for inputting whether or not to store a specimen such as a biological sample, and additional test items required when the possibility of a new disease is estimated.
  • Input section 503 for inputting whether or not to notify, input section 504 for inputting whether or not to undergo a retest when an additional test occurs, input for inputting the type of disease not to be searched Part 505 is displayed.
  • Patient 120 inputs the necessity of specimen storage, the necessity of notification of additional items, the possibility of re-examination of the same item, and the type of disease not to be searched according to the information displayed on the disease search service application screen 501. Press the registration button 506. As a result, the disease search application information is written in the disease search service database 207 together with the automatically assigned customer ID.
  • the disease search organization 101 makes an appointment for an examination with the medical institution 110 on behalf of the patient 120, and then communicates the result of the appointment to the patient 120.
  • the disease search institution 101 entered the information from the patient 120 on the disease search service application screen 501.
  • the information about the necessity of sample storage is transmitted to the medical institution 110.
  • the medical institution 110 which has received the reservation from the disease searching organization 101, gives the patient ID to the patient 120, and transmits the patient ID to the disease searching organization 101.
  • the patient ID transmitted from the medical institution 110 is stored in the ID conversion table 208 shown in FIG. Further, the disease search organization 101 sends a notification to the patient 120 to the medical institution 110 to have the specimen collected. At this time, the disease search organization 101 preferably transmits the patient ID to the patient 120.
  • the medical institution 110 sequentially performs sample collection and genetic test execution on the patient 120 identified by the patient ID.
  • the medical institution 110 stores the collected sample.
  • the medical institution 110 will discard the sample after performing a genetic test.
  • the medical institution 110 writes the test result of the genetic test, that is, the base sequence-related information of the patient 120 into the genetic information database 203.
  • the diagnosis department 112 of the medical institution 110 diagnoses the patient 120 based on the results of the genetic test written in the genetic information database 203.
  • the medical institution 110 may make a diagnosis using its own database, or may make a diagnosis using a database owned by another institution.
  • the diagnosis result is transmitted directly to the patient 120 or transmitted to the patient 120 via the disease search organization 101.
  • the disease to be searched for is not particularly limited, but may be a disease selected by the medical institution 110 or a disease entered by the patient 120 on the disease search service application screen 501. It may be.
  • the disease search organization 101 inquires the medical institution 110 to submit the nucleotide sequence-related information of the patient 120 at regular intervals or every time the disease database 206 is updated.
  • the nucleotide sequence-related information of the patient 120 who was inquired by the disease search institution 101 was stored in the genetic information database 203. And sends it to the disease search organization 101.
  • the disease search organization 101 acquires the nucleotide sequence-related information of the patient 120 transmitted from the medical institution 110, and based on the acquired nucleotide sequence-related information, searches for a disease as follows. I do.
  • a disease search can be performed each time the disease database 206 is updated.
  • step A 1 in FIG. 11,
  • the disease database updating means 205 updates the disease database 206 based on the new knowledge. At the same time, the update history is written to the disease history database shown in Figure 6b.
  • step A2 an updated disease code is acquired from the disease history database (hereinafter referred to as disease 1).
  • step A3 the base sequence-related information of the disease corresponding to the disease 1 is obtained from the disease database 206.
  • step A4 the customer ID and the disease code of the person to be updated are acquired from the database for each update shown in Fig. 7b (hereinafter referred to as disease 2).
  • step A5 those that match disease 1 are extracted from among the diseases 2 obtained in step A4.
  • step A5 if there is no disease 2 that coincides with the disease 1, ⁇ there is no need to search for disease using the updated disease database 206, and the processing is stopped. If there is no disease 2 that matches the disease 1 in step A5, the disease search organization 101 may notify the medical institution 110 of the suspension of the processing after step A5. .
  • step A6 the disease searching organization 101 obtains all the test codes and results of the patient 120 from the genetic information database 203 using the customer ID. At this time, the disease search organization 101 transmits the patient ID of the patient 120 to the medical institution 110, and presents all the examination codes and results of the patient 120. It may be obtained, or the genetic information database 203 managed by the medical institution 110 may be accessed under a predetermined access restriction to read out all the examination codes and results of the patient 120. .
  • step A7 the disease search organization 101 compares the genetic information of the patient 120 obtained from the medical institution 110 with the test code and the result of the patient 120 and compares them. Extract what you want to do.
  • step A8 the disease search organization 101 calculates a coincidence rate based on the result extracted in step A7. The coincidence rate can be calculated by the following equation, for example.
  • the disease search organization 101 can present the result of the disease search to the medical institution 110 on a search result screen as shown in FIG.
  • the search result screen shown in FIG. 12 is a display example when the disease database 206 has been updated for a predetermined disease since the previous search was executed. This screen displays the newly calculated match rate and the previous match rate based on the search results this time.
  • the base sequence-related information of the patient matching the base sequence-related information in the disease database 206 related to the predetermined disease is displayed, and in particular, a flag is displayed for the gene information that has been changed this time. This allows you to see at a glance where the changes have been made. As described above, according to the flowchart shown in FIG.
  • the disease search organization 101 sends the result of the disease search of the patient 120 to the medical institution 1 1 every time the disease database 206 is updated. Can be presented for 0.
  • the medical institution 110 performs the diagnosis again based on the result of the disease search for the patient 120 presented from the disease search institution 101. At this time, the medical institution 110 may notify the patient 120 of necessary additional examination items and instruct the patient 120 to receive a new genetic diagnosis. If the patient 120 agrees with the storage of the sample, the medical institution 110 may use the stored sample and perform a genetic test for necessary additional test items.
  • the patient 120 can receive the search service every time the disease database 206 is updated, and can quickly grasp a new disease or disease risk.
  • the medical institution 110 can notify the patient 120 of the disease or the disease risk using the search result screen as shown in FIG.
  • the disease search organization 101 can also perform a disease search at regular intervals according to a flowchart shown in FIG. That is, first, the disease search organization 101 acquires today's date by the disease search means in step B1. Next, in step B2, the version of the currently used disease database 206 is acquired from the disease history database shown in FIG. 6b. Next, in step B3, the customer ID, disease code (hereinafter referred to as disease 2) and the previous version of the patient that match the following extraction conditions are obtained from the database for a certain period shown in Fig. 7c.
  • disease 2 disease code
  • step B4 the disease code updated from the previous version is acquired from the patient history database shown in Fig. 6b (hereinafter referred to as disease 1).
  • step B5 the base sequence-related information of the disease that matches the disease 1 obtained in step B4 is obtained from the disease database 206.
  • step B6 a disease 2 that matches the disease 1 among the diseases 2 obtained in step B3 is extracted. If there is no disease 2 that matches the disease 1 in step B6, there is no need to perform a disease search using the updated disease database 206, and Stop processing. If there is no disease 2 corresponding to the disease 1 in step B6, the disease searching organization 101 may notify the medical institution 110 of the suspension of the processing after step B6. good.
  • step B6 when the disease 2 that matches the disease 1 is extracted in step B6, the disease searching organization 101 proceeds to step B7 and continues the processing. Then, the disease searching organization 101 executes steps B7 to B10 in the same manner as steps A6 to A9 in the flowchart shown in FIG. Thus, the disease search organization 101 can present the result of the disease search for the patient 120 to the medical institution 110 at regular intervals according to the flowchart shown in FIG. Finally, in step B11, the disease searching organization 101 writes the next date and DB version in the database for a certain period shown in FIG. 7c, and ends the processing.
  • the medical institution 110 performs the diagnosis again based on the result of the disease search of the patient 120 presented from the disease search institution 101. At this time, the medical institution 110 can notify the patient 120 of necessary additional detection items and instruct the patient 120 to receive a new genetic diagnosis. If the patient 120 agrees with the storage of the sample, the medical institution 110 may use the stored sample and perform a genetic test for necessary additional test items.
  • the patient 120 can receive the search service at regular intervals, and can quickly ascertain a new disease or disease risk.
  • the medical institution 110 can notify the patient 120 of a disease or disease risk to the patient 120 by using a search result screen as shown in FIG.
  • the disease database 206 may be useful to re-diagnose the disease database 206 every time it is updated or at regular intervals.
  • an abnormality in a particular genetic disease is dominant in the development of that disease
  • a bookmark is a disease that definitely develops a disease if its gene is abnormal.
  • Monogenic diseases include, for example, Huntington's disease, myotonic dystrophy.
  • re-diagnosis of the disease-related information DB at each update is considered to be useful for early treatment and planning of life after diagnosis.
  • lifestyle-related diseases such as hypertension are associated with multiple genes, and at the same time, various environmental factors, such as eating habits, smoking, exercise, etc., are complexly related.
  • various environmental factors such as eating habits, smoking, exercise, etc.
  • the information providing system to which the present invention is applied is not limited to the system shown in FIG. 1, but may be a system in which the disease search facility 101 and the medical facility 110 are integrally configured. That is, as another example of the information providing system to which the present invention is applied, as shown in FIG.
  • Genetic testing department 1-11 that conducts genetic testing based on genetic testing
  • diagnostic department 1 12 that makes diagnosis based on the results of genetic testing
  • reception department 1300 that receives applications for disease search services from patients 120
  • a system composed of a diagnostic institution 140 and a patient 120 as a system user can be mentioned.
  • Fig. 16 shows a configuration example of the entire system shown in Fig. 15.
  • the diagnosis institution 140 performs diagnosis of the patient 120 and disease search performed at regular intervals or every time the disease database 206 is updated. 7
  • the configuration is the same as the configuration example shown in FIG. 2 except for excluding 208.
  • a database integrating the disease search service database 2007 and the patient database 204 can be constructed to manage information about the patient 120 in a unified manner.
  • the system configuration can be simplified.
  • the diagnosis of the patient 120 and the disease search performed at regular intervals or each time the disease database 206 is updated are collectively performed during the diagnosis period 140, the present system provides The outflow of 20 personal information and / or nucleotide sequence-related information can be reliably avoided.
  • the information providing system to which the present invention is applied performs a genetic test based on the information provided from the disease searching department 102 and the disease searching department 102 provided with an information providing terminal.
  • Institutions that provide test results including the genetic testing department that conducts tests, and medical institutions that include diagnostic departments that make diagnoses based on the test result reports provided by the test results provider.
  • the system may be composed of 110 and a patient 120 as a system user.
  • the disease search department 10 of the test result provider 150 According to the system shown in Figure 17, the disease search department 10 of the test result provider 150
  • a disease search is performed at regular intervals or every time the disease database 206 is updated, and a genetic test department 111 conducts a genetic test of a sample and stores the sample. Therefore, even when a new genetic test is required when searching for a disease by the disease search department 102, it is possible to quickly perform a test using the stored sample.
  • the sample may be collected at the medical institution 110 and then transported to the genetic testing department 111, or may be collected and stored at the genetic testing department 111.
  • the information provision system to which the present invention is applied includes a disease search section 102 having an information provision terminal, a diagnosis section 112 for making a diagnosis based on the result of a genetic test, and Genetic testing that conducts genetic testing based on information provided by the diagnostic search institution 160, including the reception department 130, which accepts applications for disease search services from patients 120, and the disease search department 102. Inspection agencies 170 including departments 1 1 1 and The system may be configured by a patient 120 who is a stem user. In the system shown in FIG. 18, the same components as those in the above-described system are denoted by the same reference numerals, and description thereof will be omitted.
  • the diagnostic search organization 160 that performs the disease test requires the gene required for disease search. There is no need for testing and storage of samples.
  • a plurality of diagnostic search institutes 160 170 can be used.
  • the information providing system to which the present invention is applied is based on information provided from a search institution 180 including a disease search section 102 provided with an information providing terminal, and A testing institution that includes a genetic testing department that conducts genetic testing 1 1 1 1 0, a medical institution that includes a diagnostic department 1 12 that performs diagnosis based on the results of genetic testing 1 1 2, and a patient who is a system user 1 20.
  • the search facility 180 searches for disease at regular intervals or every time the disease database 206 is updated, and the medical institution 110 diagnoses patients 12 °. Can be provided.
  • the information providing system provided with the present invention provides a plurality of services to the disease database server 1301 that stores a copy of the disease database 206 via the network 1302.
  • the system may be such that the customers 1303, 1304 and 1305 can access it. That is, in this system, the contents of the disease database 206 can be sold to customers 1303, 1304, and 135.
  • One way to sell the contents of the disease database 206 to customers 130, 130, and 1305 is to sell the disease database server 1302 to customers 130, 130, and 304. ⁇ There is a method of constructing the information within 1305, and a method of selling 1301 access rights to the disease database in the disease search organization 101.
  • the network 1322 is constructed by, for example, a dedicated network or the Internet. When accessing from the Internet, it is desirable to ensure a high level of security by introducing a VPN. Industrial potential

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Abstract

Des informations efficaces et récentes relatives à une corrélation entre des informations de gène et des maladies sont fournies à des utilisateurs. Un système de traitement d'information comprend une base de données dans laquelle la corrélation entre des informations relatives à une séquence de base et des informations de phénotype sont stockées et mises à jour dans une synchronisation prédéterminée, un terminal fournisseur d'information destiné à recevoir une demande d'un utilisateur de système et à acquérir des informations correspondant à cette demande en provenance de la base de données et, un terminal utilisateur utilisé par un utilisateur de système pour envoyer une demande au terminal fournisseur d'information. Ce terminal fournisseur d'information acquiert des informations correspondant à la demande à chaque période prédéterminée et/ou à chaque mise à jour de la base de données. Avec ceci, les utilisateurs peuvent acquérir des informations efficaces et récentes relatives à une corrélation entre des informations de gène et des maladies et, appréhender une nouvelle maladie ou un risque de maladie sans retard.
PCT/JP2003/007147 2003-06-05 2003-06-05 Systeme fournisseur d'informations et programme utilisant des informations relatives a une sequence de base WO2004109551A1 (fr)

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JP2005500552A JPWO2004109551A1 (ja) 2003-06-05 2003-06-05 塩基配列関連情報を用いた情報提供システム及びプログラム
PCT/JP2003/007147 WO2004109551A1 (fr) 2003-06-05 2003-06-05 Systeme fournisseur d'informations et programme utilisant des informations relatives a une sequence de base

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JP2007172202A (ja) * 2005-12-21 2007-07-05 Ntt Data Corp 遺伝子情報管理システム
WO2009122928A1 (fr) * 2008-03-31 2009-10-08 日立ソフトウエアエンジニアリング株式会社 Système de gestion d'informations
JP2010522537A (ja) * 2006-11-30 2010-07-08 ナビジェニクス インコーポレイティド 遺伝子分析系および方法
JP2010157231A (ja) * 2008-12-30 2010-07-15 Samsung Electronics Co Ltd 個人ゲノム統合管理方法及び装置
JP2011039710A (ja) * 2009-08-07 2011-02-24 Hitachi Solutions Ltd 情報管理システム
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JP2016103211A (ja) * 2014-11-28 2016-06-02 大日本印刷株式会社 サーバ装置、通信端末装置、情報提供方法、プログラム及び記録媒体
WO2017199507A1 (fr) * 2016-05-17 2017-11-23 ソニー株式会社 Dispositif de traitement d'informations, procédé de traitement d'informations, programme et système de traitement d'informations
WO2019083024A1 (fr) * 2017-10-27 2019-05-02 シスメックス株式会社 Méthode d'analyse génétique, analyseur de gène, serveur de gestion, système, programme et support d'enregistrement d'analyse génétique
JP2019083011A (ja) * 2017-10-27 2019-05-30 シスメックス株式会社 遺伝子解析方法、遺伝子解析装置、管理サーバ、遺伝子解析システム、プログラム、および記録媒体
JP2021119530A (ja) * 2019-09-30 2021-08-12 シスメックス株式会社 遺伝子パネル検査の結果を管理するための情報処理システムの制御方法、情報処理システム。

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JP2007172202A (ja) * 2005-12-21 2007-07-05 Ntt Data Corp 遺伝子情報管理システム
JP2014140387A (ja) * 2006-11-30 2014-08-07 Navigenics Inc 遺伝子分析系および方法
JP2010522537A (ja) * 2006-11-30 2010-07-08 ナビジェニクス インコーポレイティド 遺伝子分析系および方法
US9092391B2 (en) 2006-11-30 2015-07-28 Navigenics, Inc. Genetic analysis systems and methods
JP2009266194A (ja) * 2008-03-31 2009-11-12 Hitachi Software Eng Co Ltd 情報管理システム
WO2009122928A1 (fr) * 2008-03-31 2009-10-08 日立ソフトウエアエンジニアリング株式会社 Système de gestion d'informations
JP2010157231A (ja) * 2008-12-30 2010-07-15 Samsung Electronics Co Ltd 個人ゲノム統合管理方法及び装置
JP2011039710A (ja) * 2009-08-07 2011-02-24 Hitachi Solutions Ltd 情報管理システム
JP2016103211A (ja) * 2014-11-28 2016-06-02 大日本印刷株式会社 サーバ装置、通信端末装置、情報提供方法、プログラム及び記録媒体
WO2017199507A1 (fr) * 2016-05-17 2017-11-23 ソニー株式会社 Dispositif de traitement d'informations, procédé de traitement d'informations, programme et système de traitement d'informations
WO2019083024A1 (fr) * 2017-10-27 2019-05-02 シスメックス株式会社 Méthode d'analyse génétique, analyseur de gène, serveur de gestion, système, programme et support d'enregistrement d'analyse génétique
JP2019083011A (ja) * 2017-10-27 2019-05-30 シスメックス株式会社 遺伝子解析方法、遺伝子解析装置、管理サーバ、遺伝子解析システム、プログラム、および記録媒体
JP7320345B2 (ja) 2017-10-27 2023-08-03 シスメックス株式会社 遺伝子解析方法、遺伝子解析装置、遺伝子解析システム、プログラム、および記録媒体
JP2021119530A (ja) * 2019-09-30 2021-08-12 シスメックス株式会社 遺伝子パネル検査の結果を管理するための情報処理システムの制御方法、情報処理システム。
JP7198307B2 (ja) 2019-09-30 2022-12-28 シスメックス株式会社 遺伝子パネル検査の結果を管理するための情報処理システムの制御方法、情報処理システム。

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