JP4916713B2 - Genetic information management system - Google Patents

Description

  The present invention relates to a genetic information management system that prevents leakage of genetic information.

  In recent years, decoding of the human genome has been almost completed, and there is an increasing expectation for so-called tailor-made medicine that selects the optimal treatment method and drug prescription according to the gene sequence. In order to realize tailor-made medicine, it is desirable that individual genetic information can be obtained as needed. At the same time, however, there is a high need for confidential management of personal genetic information due to ethical and rights issues.

  For example, Patent Document 1 discloses a technique in which a doctor or the like can obtain genetic information as needed while double-encrypting individual genetic information and ensuring high security.

  However, since the technique of Patent Document 1 uses two encryption keys, key management is not easy, and the encryption system is complicated.

  Further, as shown in FIG. 11, personal genetic information is stored in a table (a) in which gene information and personal ID are associated with each other, and a table (b) in which personal ID and personal name are associated with each other, A technique for anonymizing genetic information has also been proposed.

However, in the above method, since each table is stored and managed in one place or two places, the security of genetic information cannot be maintained when security is broken or an insider leaks. Further, even if only one of the tables is leaked, it is useful data, which leads to information leakage.
JP 2002-24385 A

  The present invention has been made in view of the above problems, and an object of the present invention is to provide a gene information management system that can easily manage data and has high confidentiality.

To achieve the above object, a first genetic information management system according to the aspect of the present invention are in the polymorph of names of a plurality of said individual genes arranged information and in a predetermined order to identify the personal first storage means and, polymorphisms said individual genes arranged in the same arrangement order as the sequence of polymorphisms of the name of said individual genes in information and the first storage means for identifying the person to put stores Second storage means for storing the genotypes in association with each other, selection means for selecting the name of the polymorphism of the gene stored in the first storage means, and the gene selected by the selection means and sorted at the polymorphic name of the first storage means, sends, and information identifying the stored personal in the first storage means to said second storage means, said sorted and the Whether the second storage means uses information for identifying an individual as a key Characterized in that it comprises a polymorph gene information obtaining means for obtaining the genotype of the gene corresponding to polymorphism name of the selected gene by the selection unit.

  For example, the first storage unit stores in advance a value obtained by converting a character string representing a polymorphic genotype sequence of genes stored in the second storage unit with a predetermined one-way function, The gene information obtaining means obtains a character string representing a genotype of the polymorphism of the gene stored in the second storage means when obtaining the genotype of the gene polymorphism from the second storage means. When the value is obtained by conversion with the predetermined one-way function, and the obtained value matches the value converted with the predetermined one-way function stored in advance in the first storage means, the second storage The polymorphic genotype of the gene obtained from the means may be determined as data corresponding to the first storage means.

  For example, it further includes an update unit that updates data stored in the first storage unit and the second storage unit, and the update unit stores all the polymorphic names of genes from the first storage unit. Obtain all the polymorphisms of the gene polymorphism from the second storage means, add new polymorphism data to the obtained polymorphism data, rearrange at random, rearranged polymorphism A character string representing a sequence of genotypes is converted by a predetermined one-way function to obtain a value, and the name of the polymorphism of the gene rearranged and the obtained value are transmitted to the first storage means, The data stored in the first storage unit and the second storage unit may be updated by transmitting the genotype of the rearranged gene in the second storage unit.

  For example, the first storage means is composed of a portable storage medium, and the genetic information acquisition means is connected to the second storage means via the Internet and means for reading stored data in the storage medium. Communication means.

The genetic information management system according to the second aspect of the present invention comprises a storage means for storing information for identifying an individual in association with a plurality of polymorphic genotypes of the individual genes arranged in a predetermined order ; , from a storage medium for storing in association with polymorphism name polymorphic genotype individual's genes arranged in the same arrangement order as the sequence of said individual genes in information and the storing means for identifying the individual Reading means for reading information ; selection means for selecting the name of the polymorphism of the gene stored in the storage medium; and the arrangement order of the names of the polymorphisms of the gene selected by the selection means in the storage medium; transmits, information identifying the individual said reading means has read in the storage means, from said storage means information identifying a key the sorted and said individual genes selected by said selection means And genetic information obtaining means for obtaining polymorphic genotype of the gene corresponding to the type names of, characterized in that it comprises a.

  According to the present invention, gene information can be easily managed by dividing and storing gene information into data with no information property. Further, even if genotype information is leaked, it is not possible to know which polymorphism information is associated with only randomly arranged genotype information, so that high confidentiality can be maintained. And when users acquire data, the correspondence between the data without information is maintained by collating the values obtained by the one-way function for the data from the source and the data from the source. Can do.

  Hereinafter, a genetic information management system according to an embodiment of the present invention will be described.

  As shown in FIG. 1, the gene information management system of the present embodiment includes an IC card 10, a card reader 20, and a gene information database 30.

  The IC card 10 is a card having a storage area and having tamper resistance. The IC card 10 is held by each individual. As shown in FIGS. 2A and 2B, the IC card 10 stores a personal ID (I1), a SNP (Single Nucleotide Polymorphism) name (I2), and a hash value (I3) in association with each other.

  The personal ID (I1) is a numerical value assigned to each individual.

  SNP is a kind of polymorphism, which means that one base on a human gene that is 99.9% identical is replaced with another different base. In the case of humans, there are about 3 billion bases, and there is a sequence portion, that is, SNP, which varies depending on each individual at a ratio of 1 to 1000-2000. In the example shown in FIG. 4, the genotype of (a) is “AA”, the genotype of (b) is “AG”, and the genotype of (c) is “GG”. Each SNP has a name for identifying it.

  The SNP name (I2) is composed of data in which names of measured SNPs are arranged for each individual. As shown in FIGS. 2A and 2B, the arrangement order is random for each individual. The number of measured SNP names (I2) is also different for each individual. A numerical value for distinguishing from the head is assigned to the SNP name (I2).

  It is considered that the efficacy and side effects of the drug differ depending on the genotype of SNP. The user (doctor) of the genetic information management system according to the present embodiment acquires the SNP genotype of the individual (patient) using the genetic information management system according to the present embodiment. Treatment methods and medicines (tailor-made medicine) can be provided.

  The hash value (I3) is a numerical value for collating data when acquiring gene information. The hash value (I3) is a value obtained in advance from a genotype corresponding to the personal ID (I1) from a hash function that is a one-way function.

  Since the genotype is composed of a combination of 4 bases (A, T, G, C), there are few patterns. Therefore, even if wrong data is acquired, it is difficult to determine the data. Therefore, when acquiring genetic information, data is collated using the hash value (I3).

  As described above, the IC card 10 stores the personal ID (I1), the SNP name (I2), and the hash value (I3). Even if the information on the IC card 10 leaks, it is data that does not make sense on its own, so that the confidentiality of the personal genetic information is maintained.

  The card reader 20 is a device that reads data stored in the IC card 10 and acquires gene information from the gene information database 30. The card reader 20 is installed in an organization (for example, a hospital) that uses genetic information.

  As shown in FIG. 1, the card reader 20 includes a reading unit 21, a ROM (Read Only Memory) 22, a RAM (Random Access Memory) 23, a CPU (Central Processing Unit) 24, a display device 25, and an input. A device 26 and a communication unit 27 are included.

  The reading unit 21 reads data stored in the IC card 10. The read data is stored in the RAM 23.

  The ROM 22 stores a program for controlling the operation of the CPU 24.

  The RAM 23 stores data read from the IC card 10. The RAM 23 functions as a work area for the CPU 24.

  The display device 25 displays data read from the IC card 10 and stored in the RAM 23. The user operates the input device 26 to acquire gene information while referring to the displayed data.

  The input device 26 is a device for inputting items necessary for obtaining gene information. The user selects the number of the SNP name (I2) to be acquired while referring to the display on the display device 25. Further, a request for gene information is transmitted to the gene information database 30 by the user's operation of the input device 26.

  The CPU 24 reads the data stored in the IC card 10 by executing a program stored in the ROM 22 and acquires gene information from the gene information database 30. The CPU 24 stores, as shown in FIG. 2D, data in which the personal ID (I1) read from the IC card 10 and the SNP name number (I5) to be acquired are associated with each other via the Internet 40. 30. Moreover, CPU24 collates the gene information which the communication part 27 received from the gene information database 30 with a hash value (I3). The verified gene information is displayed on the display device 25.

  Since the data transmitted from the card reader 20 to the gene information database 30 is composed of the personal ID (I1) and the SNP name number (I5) as described above, even if this data leaks. Because it is data that does not make sense on its own, the genetic information of individuals is kept confidential.

  The communication unit 27 transmits and receives data related to gene information. The communication unit 27 is connected to the Internet 40.

  The gene information database 30 is a database that centrally manages an individual's genotype (I4). The gene information database 30 is constructed at a predetermined location and connected to the Internet 40. As shown in FIG. 1, the gene information database 30 includes a storage device 31, a ROM 32, a RAM 33, a CPU 34, and a communication unit 35.

  As illustrated in FIG. 2C, the storage device 31 stores a table in which the personal ID (I1) and the genotype (I4) are associated with each other.

  As shown in FIG. 4, the genotype (I4) is composed of three combinations obtained by taking 2 bases out of 4 bases (A, T, G, C) for each SNP (for example, , AA / AG / GG). The genotype (I4) is assigned the same numerical value as the SNP name (I2) stored in the IC card 10.

Since the table stored in the storage device 31 is composed of the personal ID (I1) and the genotype (I4) as described above, even if this data is leaked, the data alone does not make sense. As a result, the confidentiality of personal genetic information is maintained.
Further, the safety of the SNP name (I2) stored in the IC card 10 and the genotype (I4) stored in the storage device 31 are made random for each individual ID (I1), thereby further improving safety. .

  The ROM 32 stores a program for controlling the operation of the CPU 34.

  The RAM 33 stores data received from the card reader 20. The RAM 33 functions as a work area for the CPU 34.

  The CPU 34 transmits genotype (I6) data to the card reader 20 by executing a program stored in the ROM 32.

  When the CPU 34 receives data from the card reader 20, the CPU 34 reads the genotype (I4) corresponding to the personal ID (I1) of the data from the storage device 31 and obtains the hash value (I3) stored in the IC card 10. A hash value (I7) is obtained from the genotype (I4) using the hash function used in the above.

  When obtaining the hash value (I7), the CPU 34 associates the genotype (I6) corresponding to the received SNP name number (I5) and the obtained hash value (I7) as shown in FIG. The attached data is transmitted to the card reader 20 by controlling the communication unit 35.

  Since the data transmitted from the communication unit 35 to the card reader 20 is composed of the genotype (I4) and the hash value (I7) as described above, even if this data leaks, it does not make sense alone. Because there is no data, the confidentiality of personal genetic information is maintained.

  The communication unit 35 is connected to the Internet 40. The communication unit 35 receives data from the card reader 20 via the Internet 40. In addition, the communication unit 33 transmits data requested from the card reader 20 to the card reader 20 via the Internet 40.

  Hereinafter, the operation in the configuration using the IC card 10 having the personal ID (I1) “0001” shown in FIG. 2A in the gene information management system having the above configuration will be described with reference to FIG.

  First, the user who wants to acquire gene information causes the card reader 20 to read the IC card 10 (step S1).

  When the reading unit 21 of the card reader 20 reads the IC card 10, the CPU 24 stores the personal ID (I1), the SNP name (I2), and the hash value (I3) stored in the IC card 10 in the RAM 23 ( Step S2).

  Next, as shown in FIG. 5A, the CPU 24 displays the SNP name (I2) stored in the RAM 23 together with the assigned number on the display device 25 (step S3), and prompts the user's operation.

Subsequently, the user inputs a number corresponding to the SNP name (I2) to be acquired by the input device 26 (step S4).
Here, the user inputs the numbers “1” and “3” in order to obtain the genotypes of the SNP names “rsXXXX” and “rs ####”.

  When the user input is completed, the CPU 24 controls the communication unit 27 to store the personal ID (I1) “0001” stored in the RAM 23 and the SNP number (I5) “1, 3” input from the input device. 2D is transmitted to the gene information database 30 via the Internet 40 (step S5).

  When the communication unit 35 of the gene information database 30 receives the data, the CPU 34 stores the received data in the RAM 33 (step S6).

  Next, the CPU 34 refers to the table stored in the storage device 31 and “1” -th data “CT” of the genotype (I4) of the personal ID (I1) “0001” corresponding to the received data. The “3” -th data “AA” is extracted (step S7).

  Subsequently, the CPU 34 calculates a hash value (I7) by using a predetermined hash function from the arrangement of the character string of the genotype (I4) corresponding to the personal ID (I1) “0001” of the received data (step S1). S8).

  Then, the CPU 34 controls the communication unit 35 to combine the extracted genotype (I6) “CT, AA” and the calculated hash value (I7) “XXX” as shown in FIG. To the card reader 20 (step S9).

  When the communication unit 27 of the card reader 20 receives the data, the CPU 24 detects data having the same hash value (I3) as the hash value (I7) “XXX” of the received data from the RAM 22 (step S10).

  When the CPU 24 detects data having the same hash value (I3, I7) “XXX”, the “1” -th and “3” -th SNP names (I2) of the personal ID (I1) “0001” input in step S4. ) Genotype (I6) is received.

  By comparing the hash values (I3, I7), it is possible to determine that the genotype (I6), which is a combination of only four bases and is confusing data, is correct data.

  Then, as shown in FIG. 5B, the CPU 24 displays the genotype (I4) corresponding to the SNP name (I2) on the display device 25 (step S11).

  As described above, the user (doctor) can obtain the genetic information of the individual (patient) via the Internet 40 while maintaining confidentiality. Thereby, the user can know the genotype (I4) of an individual SNP, and can provide a treatment method and a medicine suitable for each individual.

  Next, regarding the issuance and updating of the IC card 60 and the updating of the gene information database 30 when the genetic data is measured for the first time and when a person who has already measured the genetic data newly measures another genetic data explain. A dedicated card reader / writer 50 is used for issuing and updating the IC card 60 and updating the gene information database 30.

  As shown in FIG. 6, the card reader / writer 50 includes a reading / writing unit 51, a ROM 52, a RAM 53, a CPU 54, a display device 55, an input device 56, and a communication unit 57.

  The read / write unit 51 reads data stored in the IC card 60. The read data is stored in the RAM 23. The reading / writing unit 51 writes (stores) the personal ID, the SNP name, and the hash value in the IC card 60.

  The ROM 52 stores a program for controlling the operation of the CPU 54.

  The RAM 53 stores data read from the IC card 60. The RAM 53 stores data input by the input device 56. The RAM 53 functions as a work area for the CPU 54.

  The display device 55 displays data necessary for issuing and updating the IC card 60 and updating the gene information database 30.

  The input device 56 is a device for inputting items necessary for issuing and updating the IC card 60 and updating the gene information database 30. When the IC card 60 is issued or updated, the measured gene data is input by the input device 56.

  The CPU 54 executes the program stored in the ROM 52 to transmit the data necessary for issuing and updating the IC card 60 and updating the gene information database 30 to the gene information database 30.

  The communication unit 57 transmits and receives data related to gene information. The communication unit 57 is connected to the Internet 40.

  Further, the card reader / writer 50 has a function of acquiring gene information from the gene information database 30 in the same manner as the card reader 20 described above.

  First, the operation of the issuance processing of the IC card 60 by the card reader / writer 50 having the above configuration when the SNP genotype is measured for the first time will be described with reference to FIGS.

  First, the measured data is input by the input device 56 (personal ID “0003”). The input data is stored in the RAM 53 as shown in FIG. 8A (step S21).

  Next, the CPU 54 randomly rearranges the SPN name and genotype of the data stored in the RAM 53 as a set as shown in FIG. 8B (step S22).

  Then, the CPU 54 obtains a hash value from the rearranged genotype character string “CTAACC” as shown in FIG. 8C (step S23).

  Subsequently, as shown in FIG. 8D, the CPU 54 obtains the personal ID “0003” and the SNP names “rsΔΔ” “rs ####” “AgeneT10C” stored in the RAM 54 in step S23. The hash value “YYY” is stored in the new IC card 60 stored in the reading / writing unit 51 in advance (step S24).

  Further, as shown in FIG. 8E, the CPU 54 transmits the personal ID and genotype stored in the RAM 54 to the gene information database 30, and the genotype of the personal ID “0003” is transmitted to the gene information database 30. “CT”, “AA”, and “CC” are newly registered (step S25).

  Finally, the data stored in the RAM 53 is deleted (step S26), and the IC card issuing process is terminated.

  As described above, the IC card 60 can be newly issued and the gene information database 30 can be updated.

  Next, the update process of the IC card 60 by the card reader / writer 50 having the above configuration when a person who has already measured the genetic data newly measures another genotype of SPN will be described with reference to FIGS. 9 will be used for explanation.

  First, the reading / writing unit 51 reads the IC card 60 with the personal ID “0003” newly measured for the genotype of another SPN. Then, using the read data, the genotypes of all SNP names registered in the IC card 60 are acquired from the gene information database 30 and stored in the RAM 53 as shown in FIG. 9A (step S31). .

  Then, the newly measured SNP name “rsOO” and its genotype “GC” are input by the input device 56. As shown in FIG. 9B, the input data is stored in the RAM 53 in addition to the data stored in step S31 (step S32).

  Next, the CPU 54 randomly rearranges the SPN name and genotype of the data stored in the RAM 53 as a set as shown in FIG. 9C (step S33).

  Then, the CPU 54 obtains a hash value from the rearranged genotype character string “CCGCAACT” as shown in FIG. 9D (step S34).

  Subsequently, as shown in FIG. 9E, the CPU 54 stores the personal ID “0003” and the SNP names “AgeneT10C” “rsxxx” “rs ####” “rsΔΔ” stored in the RAM 54. The hash value “XYY” obtained in step S34 is overwritten and stored on the IC card 60 (step S35).

  Further, as shown in FIG. 9 (f), the CPU 54 transmits the personal ID and genotype stored in the RAM 54 to the gene information database 30, and the genotype “0003” of the personal ID “0003” is transmitted to the gene information database 30. CC, “GC”, “AA”, and “CT” are overwritten and registered (step S36).

  Finally, the data stored in the RAM 53 is deleted (step S37), and the IC card update process is terminated.

  As described above, the IC card 60 can be updated and the gene information database 30 can be updated.

  In addition, this invention is not limited to the said embodiment, A various deformation | transformation and application are possible.

  In the above embodiment, SNP is used as gene information, but other polymorphism such as microsatellite may be used as long as it is useful information as gene information.

The personal ID and the SNP name are not limited to being stored by the individual such as the IC cards 10 and 60, but may be configured to be centrally managed by a database or the like in a place where it is actually used, such as a hospital. For example, as shown in FIG. 10, the reading unit 21 of the card reader 20 may be replaced with a storage device 28 and a personal ID and SNP name may be stored in the storage device 28.
In the above embodiment, the dedicated card reader 20 and the card reader / writer 50 are used. However, the present invention is not limited to this. Any configuration capable of acquiring gene information, such as a PC having a function of reading the IC cards 10 and 60, is arbitrary.

  The personal ID and SNP name are not limited to the IC cards 10 and 60, and any other storage medium such as a memory card or a memory chip may be used as long as the storage medium has appropriate tamper resistance. May be.

  Further, the flowchart for updating the IC card 10 and issuing the IC card 60 shown in FIG. 7 is an example, and can be arbitrarily changed. For example, although the data measured in step S26 and step S37 are discarded, all data may be stored as backups in the card reader / writer 50 without being discarded.

  In the above-described embodiment, the program executed by the CPU is stored in the ROM. However, the program may be stored in advance in an arbitrary storage medium or in an arbitrary storage medium via a network.

It is a block diagram which shows the whole structure of the gene information management system which concerns on embodiment of this invention. It is a figure for demonstrating the structure of the data used for gene information acquisition. It is a flowchart for demonstrating operation | movement of the gene information management system shown in FIG. It is a figure for demonstrating SNP. It is a figure for demonstrating the display of a display apparatus. It is a block diagram which shows the structure of a card reader / writer. (A) It is a flowchart for demonstrating an IC card issue process. (B) It is a flowchart for demonstrating an IC card update process. It is a figure which shows the structure of the data used for an IC card issue process. It is a figure which shows the structure of the data used for an IC card update process. It is a block diagram which shows the whole structure of the modification of a gene information management system. It is a figure which shows an example of the management method of the conventional gene information.

Explanation of symbols

10 IC Card 20 Card Reader 30 Gene Information Database 40 Internet 50 Card Reader / Writer 60 IC Card

Claims (5)

First storage means for storing in association with polymorphism of names of a plurality of said individual genes arranged information and in a predetermined order to identify the individuals,
The information for identifying the individual is stored in association with the polymorphic genotypes of the individual genes arranged in the same order as the names of the polymorphic names of the individual genes in the first storage means . Two storage means;
Selection means for selecting the name of the polymorphism of the gene stored in the first storage means;
And sorted in the first storage means polymorphisms in the name of the genes selected by the selecting means, and information identifying the stored personal in the first storage unit to the second storage means Transmitting and obtaining the genotype of the polymorphism of the gene corresponding to the name of the polymorphism of the gene selected by the selection means from the second storage means using the arrangement order and the information for identifying the individual as a key Genetic information acquisition means;
A genetic information management system comprising: The first storage means stores in advance a value obtained by converting a character string representing an array of genotypes of polymorphisms of genes stored in the second storage means with a predetermined one-way function,
The gene information acquisition means, when acquiring the genotype of the gene polymorphism from the second storage means, a character string representing an array of genotypes of the gene polymorphism stored in the second storage means Is converted by the predetermined one-way function to obtain a value, and when the obtained value matches the value converted by the predetermined one-way function stored in advance in the first storage means, the second polymorphism genotype of a gene obtained from the storage means, genetic information management system according to claim 1, characterized in that determining that the data corresponding to the first storage unit. An update unit for updating data stored in the first storage unit and the second storage unit;
The update means acquires all the names of gene polymorphisms from the first storage means, acquires all the genotypes of gene polymorphisms from the second storage means, and stores the obtained polymorphism data in the acquired polymorphism data. A new polymorphism data is added, rearranged randomly, a character string representing the rearranged genotype sequence is converted by a predetermined one-way function to obtain a value, and the first storage means By transmitting the name of the polymorphism of the gene rearranged and the calculated value and transmitting the genotype of the rearranged gene to the second storage means, so that the first storage means and the first The gene information management system according to claim 2 , wherein data stored in the two storage means is updated. The first storage means is composed of a portable storage medium,
The genetic information acquisition means; means for reading storage data of the storage medium;
Communication means connected to the second storage means via the Internet;
The gene information management system according to claim 1, comprising: Storage means for associating and storing information for identifying individuals and a plurality of polymorphic genotypes of the individual genes arranged in a predetermined order ;
Information from the storage medium for storing in association with polymorphism name polymorphic genotype individual's genes arranged in the same arrangement order as the sequence of said individual genes in information and the storing means for identifying the individual Reading means for reading
Selection means for selecting the name of the polymorphism of the gene stored in the storage medium;
And sorted in the storage medium of the polymorphism name of the selected gene by the selection means, and transmits the information identifying the individual said reading means has read, to the storage means, the arrangement order and said individual Gene information acquisition means for acquiring the genotype of the polymorphism of the gene corresponding to the name of the polymorphism of the gene selected by the selection means from the storage means with the information for identifying as a key;
A genetic information management system comprising:

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