Method and device for establishing pedigree for specific disease based on family tree

Abstract

Various embodiments relate to a method and apparatus for establishing a pedigree for a disease based on a family tree, the method comprising the following steps: a pedigree service receives a request for a family health status, the pedigree service sends a request for the family tree, the pedigree service sends a data request about the health status of relatives on the family tree to an access control system, the access control system verifies the consent of the relatives on the family tree, the pedigree service receives the health status of the relatives from a health data storage device, and the pedigree service draws a pedigree for the disease based on the health status of the relatives.

Description

Technical Field

[0001] The present disclosure relates generally to building pedigrees, and more particularly, but not exclusively, to building pedigrees for specific diseases based on family trees. Background Art

[0002] A genetic disease is any disease caused by an abnormality in an individual's genome. Abnormalities in the genome can range from discrete mutations in a single base of a single gene to chromosomal abnormalities. Genetic diseases may be inherited from a parent, while other diseases may be caused by acquired mutations in a pre-existing gene or a group of genes.

[0003] For genetic diseases inherited from parents, these can include single gene inheritance, multifactorial inheritance, chromosomal abnormalities, and / or mitochondrial inheritance patterns. Multifactorial genetic diseases may be caused by a combination of environmental factors and multiple gene mutations.

[0004] Therefore, because family members share many factors, including their genes, environment, and lifestyle, a family medical history can help identify people in the family who are more likely to have genes for common diseases (for example, heart disease, high blood pressure, stroke, certain cancers, and diabetes).

[0005] By identifying patterns of conditions in relatives, health care professionals may be able to determine if an individual in the family, other family members, or future generations are at increased risk for developing a particular condition.

[0006] As a result, individuals at increased risk for certain conditions could receive frequent screening beginning at an earlier age.

[0007] An individual can also change his or her lifestyle to reduce the risk of developing some diseases, for example, by eating a healthy diet, exercising regularly, and stopping smoking. Summary of the invention

[0008] A brief summary of various embodiments is given below. Embodiments are directed to methods and apparatus for building a pedigree for a specific disease based on a family tree.

[0009] A brief summary of various example embodiments is given. Some simplifications and omissions may be made in the following summary, which is intended to highlight and introduce some aspects of the various example embodiments, but does not limit the scope of the present invention.

[0010] Detailed descriptions of example embodiments sufficient to allow one of ordinary skill in the art to make and use the inventive concepts will follow in the following sections.

[0011] Various embodiments relate to a method for establishing a pedigree for a disease based on a family tree, the method comprising the following steps: a pedigree service receives a request for a family health status, the pedigree service sends a request for the family tree, the pedigree service sends a data request about the health status of relatives on the family tree to an access control system, the access control system verifies the consent of the relatives on the family tree, the pedigree service receives the health status of the relatives from a health data storage device, and the pedigree service draws a pedigree for the disease based on the health status of the relatives.

[0012] In an embodiment of the present disclosure, a method for establishing a pedigree for a disease based on a family tree further includes: sending the pedigree to a patient by the pedigree service.

[0013] In an embodiment of the present disclosure, a method for establishing a pedigree for a disease based on a family tree further includes: determining, by the pedigree service, which relatives on the family tree are affected by the disease.

[0014] In an embodiment of the present disclosure, a method for establishing a pedigree for a disease based on a family tree further includes: identifying a genetic pattern by the pedigree service.

[0015] In an embodiment of the present disclosure, the method for establishing a pedigree for a disease based on a family tree further includes: identifying, by the pedigree service, the risk of the relatives on the family tree suffering from the disease.

[0016] In an embodiment of the present disclosure, the access control system verifies the relatives on the family tree and a signature from a service providing the family tree.

[0017] In an embodiment of the present disclosure, the relatives on the family tree append data on a blockchain with a hash value using a Merkle tree.

[0018] In an embodiment of the present disclosure, when the lineage service requests data of the health status from the access control system, the lineage service appends a link to the blockchain.

[0019] In an embodiment of the present disclosure, the access control system verifies the blockchain and sends the data of the health status.

[0020] In an embodiment of the present disclosure, genomic data from the patient is sent to a network, which determines whether the genomic data belongs to a relative on the network.

[0021] Various embodiments relate to a pedigree service for establishing a pedigree for a disease based on a family tree, the pedigree service comprising: a memory; and a processor configured to: receive a family health status request, send a request for the family tree, send a data request about the health status of relatives on the family tree to an access control system, receive verification of the consent of the relatives on the family tree, receive the health status of the relatives from a health data storage device, and draw a pedigree for the disease based on the health status of the relatives.

[0022] In an embodiment of the present disclosure, the pedigree service is used to build a pedigree for a disease based on a family tree, and the processor is further configured to send the pedigree to the patient.

[0023] In an embodiment of the present disclosure, the pedigree service is used to establish a pedigree for a disease based on a family tree, and the processor is further configured to determine which of the relatives on the family tree are affected by the disease.

[0024] In an embodiment of the present disclosure, the pedigree service is used to build a pedigree for a disease based on a family tree, and the processor is further configured to identify an inheritance pattern.

[0025] In an embodiment of the present disclosure, the pedigree service is used to establish a pedigree for a disease based on a family tree, and the processor is further configured to identify the risk of the relatives on the family tree suffering from the disease.

[0026] In an embodiment of the present disclosure, an access control system verifies the relatives on the family tree and a signature from a service providing the family tree.

[0027] In an embodiment of the present disclosure, the relatives on the family tree append data on a blockchain with a hash value using a Merkle tree.

[0028] In an embodiment of the present disclosure, when the lineage service requests data of the health status from the access control system, the lineage service appends a link to the blockchain.

[0029] In an embodiment of the present disclosure, the access control system verifies the blockchain and sends the data of the health status.

[0030] In an embodiment of the present disclosure, genomic data from the patient is sent to a network, which determines whether the genomic data belongs to a relative on the network. BRIEF DESCRIPTION OF THE DRAWINGS

[0031] The accompanying drawings and the following detailed description are incorporated into and form a part of the specification and serve to further illustrate example embodiments of the concepts found in the claims and to explain various principles and advantages of these embodiments, wherein like reference numerals refer to identical or functionally similar elements throughout the individual views.

[0032] These and other more detailed and specific features will be more fully disclosed in the following specification with reference to the accompanying drawings, in which:

[0033] Figure 1 A block diagram illustrating the system architecture of the current embodiment for building a pedigree for a specific disease using a family tree;

[0034] Figure 2 illustrates a family tree for a specific disease according to the present embodiment; and

[0035] Figure 3 A block diagram of a real-time data processing system of the present embodiment is illustrated. DETAILED DESCRIPTION

[0036] It should be understood that the drawings are schematic and not drawn to scale. It should also be understood that the same reference numerals are used throughout the drawings to indicate the same or similar parts.

[0037] Description and accompanying drawings illustrate the principle of various example embodiments. Therefore, it will be appreciated that those skilled in the art will be able to design various arrangements that are not explicitly described or shown herein but embody the principle of the present invention and are included in the scope of the present invention. In addition, all examples listed herein are clearly intended to be used for teaching purposes in principle to assist readers to understand the principle of the present invention and the conception contributed by the inventor to further develop this area, and should be interpreted as not being limited to the examples and conditions of such specific records. In addition, unless otherwise indicated (for example, "or other" or "or alternatively"), the term "or" used herein refers to non-exclusive or (that is, and / or). Moreover, the various embodiments described herein do not have to be mutually exclusive, because some embodiments can be combined with one or more other embodiments to form new embodiments. Descriptors such as "first", "second", "third" and the like do not mean to limit the order of the elements under discussion, but are used to distinguish one element from another element, and they are usually interchangeable.

[0038] Sharing health data and records among immediate family members is simple compared to sharing health data and records beyond two generations in a family, which may become difficult due to coordination and availability of health data and records.

[0039] However, even if it is difficult, for genetic diseases or rare diseases, the patient's doctor needs access to the health data and records of other immediate family members of the patient, and also needs access to the health data and records of the patient's collateral relatives (including and possibly more than three generations). The health data and records required may be the health data and records of relatives that the patient does not know. However, the health data and records of the relatives may help the doctor make a correct diagnosis and prepare for the patient's prognosis.

[0040] The current embodiments are directed to automatically and efficiently retrieving consent for access to health data and records and / or genomic data of family members and extended relatives of a patient to ensure the accuracy and validity of the information retrieved to enable a physician to properly diagnose the patient.

[0041] The current embodiment is a method and system for establishing a pedigree for a family member against a specific disease based on the results of a comparison of family tree and / or genomic data.

[0042] Figure 1 A block diagram of the system 100 architecture for building a pedigree for a specific disease using the family tree of the current embodiment is illustrated.

[0043] System 100 includes pedigree service 101, health data database 102, and family tree service 103. Once patient 120 initiates a family health status request for a specific disease or a group of suspected diseases to pedigree service 101, pedigree service 101 sends a request to family tree service 103 to identify relatives on the patient's family tree 108.

[0044] The pedigree service 101 may send a data request to the access control system 104 of the health data storage device 102 to request the health data and records of the relatives on the patient's family tree 108. The health data database 102 may respond to the pedigree service 101 with the requested data. Finally, the pedigree service 101 may output the pedigree for the requested disease of the patient and return the results to the patient 120.

[0045] For a specific disease, after the pedigree service 101 receives the health data and records of the relatives on the family tree 108, the service outputs the pedigree of the patient's requested disease.

[0046] The pedigree output from the pedigree service can organize information about relatives' medical history, illustrate who may be affected, identify inheritance patterns and calculate who may be at risk for the patient's requested disease.

[0047] The process begins at step 106, where the patient 120 initiates a request for family health conditions for a particular disease or a group of suspected diseases to the pedigree service 101. The process proceeds to step 107, where, after receiving the request from the patient 120 at step 106, the pedigree service 101 sends a request to the family tree service 103 to identify relatives on the patient's family tree 108.

[0048] The process then proceeds to step 109, where the pedigree service 101 sends a data request to the access control system 104 of the health data storage device 102 to request the health data and records of the relatives on the patient's family tree 108. The process then proceeds to step 110, where the access control system 104 verifies the consent of the relatives.

[0049] If consent is granted, the access control system 104 is able to verify whether the consent policy allows the sharing of the relative's health data and records to build a specific disease pedigree, and the process proceeds to step 111, where the access control system 104 and the pedigree service 101 share the relevant health data and records. If consent is not granted, the access control system 104 is unable to verify whether the consent policy allows the sharing of the relative's health data and records to build a specific disease pedigree, the process ends, and the health data and records are not shared.

[0050] Then, the process proceeds to step 112, which uses the health records and data from the patient's relatives and performs data analysis and draws the pedigree of the patient's request disease. Then, the process proceeds to step 113, which returns the pedigree of the patient's request disease to the patient 120.

[0051] For a specific disease, after the pedigree service 101 receives health data and records from relatives on the patient's family tree 106, the pedigree service 101 draws a pedigree for the patient's requested specific disease. The pedigree organizes information about relatives' medical history by illustrating which relatives are affected by the specific disease, identifies inheritance patterns, and calculates who is at risk for the patient's requested disease.

[0052] Figure 2 A family tree 200 for a specific disease of the current embodiment is illustrated.

[0053] The relative marked with arrow 201 has the requested disease condition.

[0054] Family trees can be provided by third-party services, such as Ancestry.com, Facebook, etc.

[0055] If the patient requests the pedigree service to provide a pedigree for a particular disease, the pedigree service generates a request to the family tree generator service on behalf of the patient to obtain a list of the patient's family members on the patient's family tree. The family tree service provides the list of family members to the pedigree service with a signature.

[0056] When the pedigree service makes a request from the access control system, the family tree provides health data and records for a specific disease condition and a list of family members. The access control system verifies the list of family members and the signature.

[0057] When the genealogy service and the family member list are authenticated, the access control system may respond to the genealogy service with the health status of the requested family member list.

[0058] In another embodiment, blockchain can be used to provide genealogy services. For example, a Merkle tree can be constructed on the blockchain. In the blockchain, each family member can verify the data on the block and can use the hash value to attach their data to the blockchain.

[0059] Thus, when the genealogy service requests the health data and records of the patient's family from the access control system, the genealogy service can attach a link to the genealogy blockchain to the access control system. The identities of the relatives on the patient's family tree can be stored in the hash value and thus remain anonymous to the access control system for confidentiality purposes. The access control system can verify the Merkle tree of the blockchain and respond to the genealogy service with the health data and records.

[0060] In another example, for some distant relatives, their identities may not appear on the patient's family tree. However, for a specific rare disease, it may be necessary to know the data and records of these relatives.

[0061] The Beacon Network can provide genealogical information for distant relatives. For example, a patient can provide the Beacon Network with their mitochondrial DNA or genomic data on their Y chromosome. The Beacon Network can compare the patient's mitochondrial DNA or genomic data on their Y chromosome with the data of other users on the Beacon Network to identify whether any data belongs to any other users that can assist in identifying these relatives. If the Beacon Network identifies the patient's relatives, the Beacon Network can return a family list to the genealogy service. The Beacon Network can maintain the anonymity of the patient's relatives by providing only relevant genetic data without providing the identity information of the patient's relatives.

[0062] In another embodiment, the system can be used to identify potential genetic disease risks in fertilized eggs and mark related genes.

[0063] For example, if parents know that a genetic disease may exist in their family, the parents can initiate a pedigree search for the genetic disease. The pedigree service can provide the pedigree for the requested disease.

[0064] Figure 3 An exemplary hardware diagram 300 for implementing a method for establishing a pedigree for a specific disease based on a family tree is illustrated. As shown, the device 300 includes a processor 320, a memory 330, a user interface 340, a network interface 350, and a storage device 360 ​​interconnected via one or more system buses 310. In some aspects, Figure 3 An abstraction is constructed, and the actual organization of components of device 300 may be more complex than that illustrated.

[0065] Processor 320 may be any hardware device capable of executing instructions stored in memory 330 or storage device 360 ​​or otherwise processing data. As such, the processor may include a microprocessor, a field programmable gate array (FPGA), an application specific integrated circuit (ASIC), or other similar device.

[0066] The memory 330 may include various memories, such as L1, L2 or L3 cache memory or system memory. As such, the memory 330 may include static random access memory (SRAM), dynamic RAM (DRAM), flash memory, read-only memory (ROM) or other similar memory devices.

[0067] The user interface 340 may include one or more devices for enabling communication with a user (e.g., an administrator). For example, the user interface 340 may include a display, a mouse, and a keyboard for receiving user commands. In some embodiments, the user interface 340 may include a command line interface or a graphical user interface that may be presented to a remote terminal via the network interface 50.

[0068] The network interface 350 may include one or more devices for enabling communication with other hardware devices. For example, the network interface 350 may include a network interface card (NIC) configured to communicate according to the Ethernet protocol. In addition, the network interface 350 may implement a TCP / IP stack for communicating according to the TCP / IP protocol. Various alternative or additional hardware or configurations of the network interface 350 will be apparent.

[0069] The storage device 360 ​​may include one or more machine-readable storage media, such as a read-only memory (ROM), a random access memory (RAM), a disk storage medium, an optical storage medium, a flash memory device, or a similar device storage medium. In various embodiments, the storage device 360 ​​may store instructions for execution by the processor 320 or data that the processor 320 can operate on. For example, the storage device 360 ​​may store a basic operating system 361 for controlling various basic operations of the hardware 300 and instructions for implementing a method for establishing a pedigree for a specific disease based on a family tree 362.

[0070] It will be apparent that various information described as being stored in storage device 360 ​​may additionally or alternatively be stored in memory 330. In this regard, memory 330 may also be considered to constitute a "storage device," and storage device 360 ​​may also be considered to be a "memory." Various other arrangements will be apparent. Additionally, both memory 330 and storage device 360 ​​may be considered to be "non-transitory machine-readable media." The term "non-transitory," as used herein, will be understood to exclude transient signals, but to include all forms of storage devices, including volatile memory and non-volatile memory.

[0071] Although host device 300 is shown as including one of each of the described components, individual components may be replicated in various embodiments. For example, processor 320 may include multiple microprocessors configured to independently run the methods described herein, or configured to perform steps or subroutines of the methods described herein, so that multiple processors collaborate to implement the functions described herein. In addition, in the case where device 300 is implemented in a cloud computing system, various hardware components may belong to separate physical systems. For example, processor 320 may include a first processor in a first server and a second processor in a second server.

[0072] It should be apparent from the foregoing description that various exemplary embodiments of the present invention can be implemented in hardware. In addition, various exemplary embodiments can also be implemented as instructions stored on a non-transient machine-readable storage medium (e.g., a volatile memory or a non-volatile memory), which can be read and run by at least one processor to perform the operations described in detail. A non-transient machine-readable storage medium may include any mechanism for storing information in a machine-readable form, such as a personal computer or laptop computer, a server or other computing device. Therefore, a non-transient machine-readable storage medium may include a read-only memory (ROM), a random access memory (RAM), a disk storage medium, an optical storage medium, a flash memory device, and similar storage media, but does not include transient signals.

[0073] It will be appreciated by those skilled in the art that any of the boxes and block diagrams herein represent conceptual diagrams of illustrative circuits that embody the principles of the present invention. The implementation of a particular box can vary, and they can be implemented in the hardware field or the software field without limiting the scope of the present invention. Similarly, it will be appreciated that any flow chart, flow diagram, state transition diagram, pseudocode, etc. represent various processes that can be substantially represented in a machine-readable medium and thus run by a computer or processor, whether or not such a computer or processor is explicitly shown.

[0074] Therefore, it should be understood that the above description is intended to be illustrative rather than restrictive. After reading the above description, many embodiments and applications other than the examples provided will be apparent. The scope of protection should not be determined with reference to the above description or summary, but should be determined with reference to the full range of equivalents given by the claims and these claims. It is expected and hoped that the technology discussed herein will produce future developments and that the disclosed systems and methods will be incorporated into such future embodiments. In a word, it should be understood that the application can be modified and varied.

[0075] Benefits, advantages, solutions to problems, and any element(s) that may make any benefit, advantage, or solution occur or become more apparent are not to be construed as a critical, required, or essential feature or element of any or all the claims. The invention is defined solely by the claims including any amendments made during the pendency of this application and all equivalents of those claims as issued.

[0076] Unless expressly indicated to the contrary herein, all terms used in the claims are intended to be given their broadest reasonable constructions and their ordinary meanings as understood by those skilled in the art discussed herein. In particular, it should be understood that use of singular articles such as "a," "an," "the," and "said" should be indicative of one or more of the indicated elements unless a claim recites an express limitation to the contrary.

[0077] An abstract of the disclosure is provided to allow the reader to quickly ascertain the essence of the technical disclosure. It should be understood that the abstract is not intended to interpret or limit the scope or meaning of the claims. In addition, it can be seen in the foregoing detailed description that various features are combined together in various embodiments in order to simplify the disclosure. The method of the disclosure should not be interpreted as reflecting the intention that the claimed embodiments require more features than those explicitly recited in each claim. Rather, as reflected in the claims, the subject matter of the invention lies in less than all the features of a single disclosed embodiment. Therefore, the claims are incorporated herein into the detailed description, and each claim itself represents a separate claimed subject matter.

Claims

1. A method for establishing a pedigree for a disease based on a family tree, the method comprising the following steps: Receiving family health status requests from genealogy services; Sending a request for the family tree by the pedigree service, wherein the relatives on the family tree use a Merkle tree to attach the identities of the relatives on the blockchain with hash values; sending, by the pedigree service, a data request regarding the health status of a relative on the family tree to an access control system, wherein when the pedigree service requests the health status data from the access control system, the pedigree service attaches a link to the blockchain, and the pedigree service attaches a link to the family tree blockchain to the access control system; verifying, by the access control system, the consent of the relative on the family tree; receiving, by the pedigree service, health conditions of only consenting relatives from a health data storage device; and A pedigree for the disease is drawn by the pedigree service based on the health conditions of the relatives.

2. The method for establishing a pedigree for a disease based on a family tree according to claim 1, further comprising: The pedigree is sent to the patient by the pedigree service.

3. The method for establishing a pedigree for a disease based on a family tree according to claim 1, further comprising: The pedigree service determines which of the relatives on the family tree are affected by the disease.

4. The method for establishing a pedigree for a disease based on a family tree according to claim 1, further comprising: The inheritance pattern is identified by the pedigree service.

5. The method for establishing a pedigree for a disease based on a family tree according to claim 1, further comprising: The risk of the relatives on the family tree developing the disease is identified by the pedigree service.

6. The method for establishing a pedigree for a disease based on a family tree according to claim 1, wherein: The access control system verifies the relatives on the family tree and the signature from the service providing the family tree.

7. The method for establishing a pedigree for a disease based on a family tree according to claim 1, wherein: The access control system verifies the blockchain and sends the data of the health status.

8. The method for establishing a pedigree for a disease based on a family tree according to claim 1, wherein: Genomic data from the patient is sent to a network, which determines whether the genomic data belongs to a relative on the network.

9. A pedigree service for establishing a pedigree for a disease based on a family tree, the pedigree service comprising: Memory; as well as A processor configured to: Receive family health status requests; Sending a request for the family tree, wherein the relatives on the family tree use a Merkle tree to attach the identities of the relatives on a blockchain with a hash value; sending a data request about the health status of a relative on the family tree to an access control system, wherein when the family tree service requests the health status data from the access control system, the family tree service attaches a link to the blockchain, and the family tree service attaches a link to the family tree blockchain to the access control system; receiving verification of consent from said relative on said family tree; receiving health information of only consenting relatives from a health data storage device; and A pedigree for the disease is drawn based on the health conditions of the relatives.

10. The pedigree service for establishing a pedigree for a disease based on a family tree according to claim 9, wherein the processor is further configured to: The pedigree is sent to the patient.

11. The pedigree service for establishing a pedigree for a disease based on a family tree according to claim 9, wherein the processor is further configured to: It is determined which of the relatives on the family tree are affected by the disease.

12. The pedigree service for establishing a pedigree for a disease based on a family tree according to claim 9, wherein the processor is further configured to: Identify inheritance patterns.

13. The pedigree service for establishing a pedigree for a disease based on a family tree according to claim 9, wherein the processor is further configured to: The risk of the relatives on the family tree developing the disease is identified.

14. The pedigree service for establishing a pedigree for a disease based on a family tree according to claim 9, wherein: An access control system verifies the relatives on the family tree and the signatures from the service providing the family tree.

15. The pedigree service for establishing a pedigree for a disease based on a family tree according to claim 9, wherein: The access control system verifies the blockchain and sends the data of the health status.

16. The pedigree service for establishing a pedigree for a disease based on a family tree according to claim 9, wherein: Genomic data from the patient is sent to a network, which determines whether the genomic data belongs to a relative on the network.

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