WO2023168099A2

WO2023168099A2 - Secure two-way messaging based on genetic information

Info

Publication number: WO2023168099A2
Application number: PCT/US2023/014534
Authority: WO
Inventors: Stanley Chang
Original assignee: AiOnco, Inc.
Priority date: 2022-03-03
Filing date: 2023-03-03
Publication date: 2023-09-07
Also published as: WO2023168099A3

Abstract

A method includes receiving genetic information associated with a subject and information identifying the subject; processing the genetic information to obtain one or more genetic indicators; and providing the one or more genetic indicators with the information identifying the subject. Another method includes providing genetic information associated with a subject and information identifying the subject; receiving one or more genetic indicators with identifier information; determining a match between the information identifying the subject and the identifier information; and providing an output associated with the match. Computer systems configured to perform such methods and computer readable storage media storing instructions for performing such methods are also described.

Description

Secure Two-Way Messaging Based on Genetic Information

RELATED APPLICATIONS

[0001] This application claims the benefit of, and priority to, U.S. Provisional Patent Application Serial No. 63/316,359, filed March 3, 2022, which is incorporated by reference herein in its entirety.

TECHNICAL FIELD

[0002] This application relates generally to sending messages over a network, and more specifically to securely sending messages based on genetic information.

BACKGROUND

[0003] With the advancements in communications technologies, electronic communications have gained wide use in many applications. The privacy risks associated with electronic communications have also increased. In particular, unintended disclosure of sensitive information (e.g., protected health information) needs to be avoided.

SUMMARY

[0004] Accordingly, there is a need for methods of securely communicating messages.

[0005] The above deficiencies and other problems associated with conventional devices and methods are reduced or eliminated by the devices and methods described herein. Such methods and devices may be used to securely distribute clinically related information.

[0006] In accordance with some embodiments, a method includes receiving genetic information associated with a subject and information identifying the subject; processing the genetic information to obtain one or more genetic indicators; and providing the one or more genetic indicators with the information identifying the subject.

[0007] In some embodiments, the information identifying the subject includes a genetic pattern associated with the subject.

[0008] In some embodiments, the genetic pattern includes a short tandem repeat in the genetic information to identify the subject.

[0009] In some embodiments, the information identifying the subject is encrypted.

[0010] In some embodiments, the information identifying the subject is homomorphically encrypted. [0011] In some embodiments, the one or more genetic indicators include a polygenic risk score.

[0012] In some embodiments, the one or more genetic indicators, provided with the information identifying the subject, are not encrypted.

[0013] In some embodiments, the one or more genetic indicators include information identifying one or more genetic mutations.

[0014] In some embodiments, processing the genetic information includes determining one or more polygenic risk scores based on the genetic information.

[0015] In some embodiments, processing the genetic information includes applying a machine learning algorithm to the genetic information.

[0016] In some embodiments, the method includes determining whether the genetic information satisfies predefined criteria.

[0017] In some embodiments, processing the genetic information includes selecting a subset of the genetic information for obtaining the one or more genetic indicators.

[0018] In accordance with some embodiments, a computer system includes one or more processors and memory storing one or more programs for execution by the one or more processors. The one or more programs include instructions, which, when executed by the one or more processors, cause the computer system to: receive genetic information associated with a subject and information identifying the subject; process the genetic information to obtain one or more genetic indicators; and provide the one or more genetic indicators with the information identifying the subject.

[0019] In accordance with some embodiments, a computer readable storage medium stores one or more programs for execution by one or more processors of a computer system. The one or more programs include instructions for: receiving genetic information associated with a subject and information identifying the subject; processing the genetic information to obtain one or more genetic indicators; and providing the one or more genetic indicators with the information identifying the subject.

[0020] In accordance with some embodiments, a method includes providing genetic information associated with a subject and information identifying the subject; receiving one or more genetic indicators with identifier information; determining a match between the information identifying the subject and the identifier information; and providing an output associated with the match. [0021] In some embodiments, the information identifying the subject includes a genetic pattern associated with the subject.

[0022] In some embodiments, the genetic pattern includes a short tandem repeat in the genetic information to identify the subject.

[0023] In some embodiments, the information identifying the subject is encrypted.

[0024] In some embodiments, the information identifying the subject is homomorphically encrypted.

[0025] In some embodiments, the method includes encrypting the information identifying the subject.

[0026] In some embodiments, the identifier information is encrypted.

[0027] In some embodiments, the identifier information is homomorphically encrypted.

[0028] In some embodiments, the one or more genetic indicators include a polygenic risk score.

[0029] In some embodiments, the one or more genetic indicators, provided with the information identifying the subject, are not encrypted.

[0030] In some embodiments, the one or more genetic indicators include information identifying one or more genetic mutations.

[0031] In some embodiments, the output associated with the match includes a visual output.

[0032] In some embodiments, the output associated with the match includes an audio output.

[0033] In some embodiments, the output associated with the match includes a confirmation indicating the match.

[0034] In accordance with some embodiments, a computer system includes one or more processors and memory storing one or more programs for execution by the one or more processors. The one or more programs include instructions, which, when executed by the one or more processors, cause the computer system to: provide genetic information associated with a subject and information identifying the subject; receive one or more genetic indicators with identifier information; determine a match between the information identifying the subject and the identifier information; and provide an output associated with the match.

[0035] In accordance with some embodiments, a computer readable storage medium stores one or more programs for execution by one or more processors of a computer system. The one or more programs include instructions for: providing genetic information associated with a subject and information identifying the subject; receiving one or more genetic indicators with identifier information; determining a match between the information identifying the subject and the identifier information; and providing an output associated with the match.

[0036] In accordance with some embodiments, a computer system includes one or more processors and memory storing one or more programs. The one or more programs include instructions for performing any method described herein.

[0037] In accordance with some embodiments, a computer readable storage medium stores one or more programs. The one or more programs include instructions, which, when executed by one or more processors of a computer system, cause the computer system to perform any method described herein. In some embodiments, the computer readable storage medium includes a non-transitory computer readable storage medium. In some embodiments, the computer readable storage medium is a non-transitory computer readable storage medium.

[0038] Thus, the disclosed embodiments enable securely sending messages, which can be used to securely communicate information. Such information can include genetic indicators, which can be used for medical diagnosis, prognosis, and/or treatment decisions (e.g., by physicians).

BRIEF DESCRIPTION OF THE DRAWINGS

[0039] For a better understanding of the various described embodiments, reference should be made to the Description of Embodiments below, in conjunction with the following drawings in which like reference numerals refer to corresponding parts throughout the figures.

[0040] Figure 1 is a block diagram illustrating a distributed computing system in accordance with some embodiments.

[0041] Figure 2 is a block diagram illustrating electronic components of a computer system in accordance with some embodiments.

[0042] Figure 3 is a block diagram illustrating electronic components of a source device in accordance with some embodiments. [0043] Figure 4A and 4B are flow diagrams illustrating operations of computer system 200 and source device 300 and their interactions in accordance with some embodiments.

[0044] Figures 5A-5E illustrate certain data structures in accordance with some embodiments.

[0045] Figure 5F illustrates example locations of genetic patterns used to identify individuals in accordance with some embodiments.

[0046] Figure 6 illustrates a flow diagram representing a method for securely providing genetic information in accordance with some embodiments.

[0047] Figures 7A-7B illustrate a flow diagram representing a method for providing an output for a match in accordance with some embodiments.

DETAILED DESCRIPTION

[0048] Reference will be made to embodiments, examples of which are illustrated in the accompanying drawings. In the following description, numerous specific details are set forth in order to provide a thorough understanding of the various described embodiments. However, it will be apparent to one of ordinary skill in the art that the various described embodiments may be practiced without these particular details. In other instances, methods, procedures, components, circuits, and networks that are well-known to those of ordinary skill in the art are not described in detail so as not to unnecessarily obscure aspects of the embodiments.

[0049] As described above, there is a need for method and devices that can securely communicate information between two devices. As described herein, a source device prepares a secure message containing information that may be used to (e.g., uniquely) identify an individual. However, the information that may be used to identify an individual may be in a form that may not directly identify the individual (e.g., the information that may be used to identify an individual may be encrypted). The message typically does not contain any other information that may identify the individual. When the message is sent to a computer system, the computer system may process information (e.g., other genetic information that may be related to genetic diagnostics but may not be able to identify the individual). Because the computer system does not have access to personally identifiable information associated with the individual, the individual’s privacy is protected. Furthermore, the computer system may provide the processed information with the information that may be used to identify the individual. When the source device receives the processed information, the source device compares (i) the information that may be used to identify the individual as received back from the computer system with (ii) the information that may be used to identify the individual as provided to the computer system. When (i) the information that may be used to identify the individual as received back from the computer system matches (ii) the information that may be used to identify the individual as provided to the computer system, the source device associates the processed information with the individual identifiable with the information that may be used to identify an individual.

[0050] In some configurations, the processed information is broadcast over the communications network and each source device receives the processed information and compares the information that may be used to identify an individual with the information locally stored within the source device for identifying individuals. The source device will present an output when the received information identifying an individual matches the locally stored information identifying an individual. Distributing the processed information to multiple source devices may, in some cases, further improve the security of the message. Furthermore, the broadcast message may not include any other personally identifiable information or protected health information, which further improves the security of the message.

[0051] Figure 1 is a block diagram illustrating a distributed computing system in accordance with some embodiments. In Figure 1, the distributed computing system includes computer system 200, one or more source devices 300, and communications network 106.

[0052] Source devices 300 can be any of a number of computer systems or computing devices (e.g., server computer, desktop computer, laptop computer, handheld computer, or combinations thereof) used to enable the activities described below. In some embodiments, source device 300 is connected to computer system 200 via communications network 106. Some source device(s) 300 may be connected to computer system 200 directly via communications network 106 (e.g., source devices 300-1 through 300-k) and some source device(s) 300 may be connected to computer system 200 via one or more other devices (e.g., source devices 300-k+l through 300-n are connected to computer system 200 via relay devices 130-1 through 130-n, which also referred to herein as further device(s)). Source device 300 may include a graphical user interface (GUI). As described in more detail below, the graphical user interface is used to display information from computer system 200 or one or more messages associated with the information. [0053] In some embodiments, communications networks 106 are the Internet. In other embodiments, the communications networks 106 can be any local area network (LAN), wide area network (WAN), metropolitan area network, or a combination of such networks. In some embodiments, communications networks 106 include a wired network and/or a wireless network (e.g., Wi-Fi, Bluetooth, etc.).

[0054] Computer system 200 receives genetic information from one or more source devices 300 (e.g., source devices 300-1 through 300-n) and provides (e.g., broadcasts) processed genetic information (with or without processing) back to the one or more source devices 300 (e.g., using the wired communication network and/or the wireless communication network of communications network 106).

[0055] In some embodiments, source devices 300 also communicate one or more messages back to computer system 200 (e.g., via communications network 106).

[0056] Figure 2 is a block diagram illustrating electronic components of a computer system 200 in accordance with some embodiments.

[0057] Computer system 200 includes one or more processing units 202 (central processing units, application processing units, application-specific integrated circuit, etc., which are also called herein processors), one or more network or other communications interfaces 204, memory 206, and one or more communication buses 208 for interconnecting these components. In some embodiments, communication buses 208 include circuitry (sometimes called a chipset) that interconnects and controls communications between system components. In some embodiments, computer system 200 includes a user interface 203 (e.g., a user interface having one or more buttons, other input devices, and/or a display device, which can be used for displaying data).

[0058] In some embodiments, communications interfaces 204 include wired communications interfaces and/or wireless communications interfaces (e.g., Wi-Fi, Bluetooth, etc.).

[0059] Memory 206 of computer system 200 includes high-speed random access memory, such as DRAM, SRAM, DDR RAM or other random access solid state memory devices; and may include non-volatile memory, such as one or more magnetic disk storage devices, optical disk storage devices, flash memory devices, or other non-volatile solid state storage devices. Memory 206 may optionally include one or more storage devices remotely located from the processors 202. Memory 206, or alternately the non-volatile memory device(s) within memory 206, comprises a computer readable storage medium (which includes a non- transitory computer readable storage medium and/or a transitory computer readable storage medium). In some embodiments, memory 206 includes a removable storage device (e.g., Secure Digital memory card, Universal Serial Bus memory device, etc.). In some embodiments, memory 206 or the computer readable storage medium of memory 206 stores the following programs, modules and data structures, or a subset thereof:

• operating system 210 that includes procedures for handling various basic system services and for performing hardware dependent tasks;

• network communication module (or instructions) 212 that is used for connecting computer system 200 to other computers (e.g., source devices 300) via one or more communications interfaces 204 and one or more communications networks, such as the Internet, other wide area networks, local area networks, metropolitan area networks, and so on;

• genetic information application 214 that processes genetic information and provides the processed genetic information to one or more other computer systems, such as source devices 300;

• security module 246 that controls access to information on the computer system 200, such as database 248; and

• one or more databases 248 that store information, such as genetic information 250 received from one or more source devices 300.

[0060] In some embodiments, the one or more databases 248 also include one or both of:

• identifier information 252 (e.g., information that can be used to identify a subject associated with genetic information 250 stored in the one or more databases 248 of the computer system 200); and

• user information 254 (e.g., information necessary for authenticating a user of computer system 200, such as login credentials and/or passwords).

[0061] In some embodiments, the one or more databases 248 are stored entirely or at least partly in memory 206. In some embodiments, at least a portion of the one or more databases 248 is stored separately from the computer system 200, and the computer system 200 has access to the separately stored portion of the one or more databases 248.

[0062] In some embodiments, the genetic information application 214 includes the following programs, modules and data structures, or a subset or superset thereof: • data module 216 configured for accessing (and retrieving) information from the one or more databases 248, where the data module 216 may include one or more of the following: o receiving module 217 configured for receiving data (e.g., genetic information) from one or more devices, such as the source devices 300 and/or storing the received data (e.g., in the database 248 as genetic information 250); o search module 218 configured for searching (or locating) genetic information containing one or more genetic patterns from the one or more databases 248; and o retrieval module 220 configured for retrieving the located genetic information from the one or more databases 248;

• encryption module 222 configured for encrypting data (e.g., genetic indicators, such as mutation information, polygenic risk scores, etc.), where the encryption module 222 may include: o homomorphic encryption module 224 configured for homomorphically encrypting the data;

• processing module 226 configured for processing the data (or homomorphic encryption thereof), such as determining a match between the data (e.g., genetic information) and selection criteria and/or determining a polygenic risk score, where the processing module 226 may include one or more of the following: o sei ecti on criteri a 228 ; o comparison module 229 for determining a match between the data and the selection criteria 228; o one or more thresholds 230; and o polygenic risk score determination module 232 configured for determining one or more polygenic risk scores based on the genetic information 250;

• providing module 234 configured for providing (e.g., broadcasting) processed genetic information, in particular an encryption of the processed genetic information, such as homomorphically encrypted genetic pattern, where the providing module 234 may include: o information 236 identifying one or more source devices.

• confirmation module 238 configured for receiving one or more confirmations from source devices 300; • user input module 240 configured for receiving and processing user inputs (e.g., user inputs received through the user interface 203);

• database module 242 configured for interaction with the one or more databases 248 (e.g., retrieving data from or storing data into the one or more databases 248); and

• display module 244 configured for updating a display of the user interface 203, including presenting information, such as the genetic information 250, an encryption thereof, or a portion thereof, on the display.

[0063] Each of the above identified modules and applications correspond to a set of instructions for performing one or more functions described above. These modules (i.e., sets of instructions) need not be implemented as separate software programs, procedures or modules, and thus various subsets of these modules may be combined or otherwise re-arranged in various embodiments. In some embodiments, memory 206 may store a subset of the modules and data structures identified above. Furthermore, memory 206 may store additional modules and data structures not described above.

[0064] Notwithstanding the discrete blocks in Figure 2, these figures are intended to be a functional description of some embodiments, although, in some embodiments, the discrete blocks in Figure 2 can be a structural description of functional elements in the embodiments. One of ordinary skill in the art will recognize that an actual implementation might have the functional elements grouped or split among various components. In practice, and as recognized by those of ordinary skill in the art, items shown separately could be combined and some items could be separated. For example, in some embodiments, security module 246 is part of genetic information application 214.

[0065] Figure 3 is a block diagram illustrating electronic components of a source device 300 in accordance with some embodiments.

[0066] Source device 300 includes one or more processing units 302 (central processing units, application processing units, application-specific integrated circuit, etc., which are also called herein processors), one or more network or other communications interfaces 304, memory 306, and one or more communication buses 308 for interconnecting these components. In some embodiments, communication buses 308 include circuitry (sometimes called a chipset) that interconnects and controls communications between system components. In some embodiments, source device 300 includes a user interface 303 (e.g., a user interface having one or more buttons, other input devices, an audio device, such as a speaker, and/or a display device, which can be used for displaying messages or alerts associated with genetic information).

[0067] In some embodiments, communications interfaces 304 include wired communications interfaces and/or wireless communications interfaces (e.g., Wi-Fi, Bluetooth, etc.).

[0068] Memory 306 of source device 300 includes high-speed random access memory, such as DRAM, SRAM, DDR RAM or other random access solid state memory devices; and may include non-volatile memory, such as one or more magnetic disk storage devices, optical disk storage devices, flash memory devices, or other non-volatile solid state storage devices. Memory 306 may optionally include one or more storage devices remotely located from the processors 302. Memory 306, or alternately the non-volatile memory device(s) within memory 306, comprises a computer readable storage medium (which includes a non-transitory computer readable storage medium and/or a transitory computer readable storage medium). In some embodiments, memory 306 includes a removable storage device (e.g., Secure Digital memory card, Universal Serial Bus memory device, etc.). In some embodiments, memory 306 or the computer readable storage medium of memory 306 stores the following programs, modules and data structures, or a subset thereof:

• operating system 310 that includes procedures for handling various basic system services and for performing hardware dependent tasks;

• network communication module (or instructions) 312 that is used for connecting source device 300 to other computers (e.g., computer system 200) via one or more communications interfaces 304 and one or more communications networks, such as the Internet, other wide area networks, local area networks, metropolitan area networks, and so on;

• genetic information application 314 that provides messages or alerts associated with the user’s genetic information;

• security module 344 that controls access to information on the source device 300;

• genetic information 350 that includes genetic information of one or more subjects, where the genetic information may be encrypted (e.g., homomorphically encrypted); and

• user information 354 (e.g., information necessary for authenticating the user of source device 300, such as login credentials and/or passwords).

[0069] In some embodiments, genetic information application 314 includes the following programs, modules and data structures, or a subset or superset thereof: • encryption module 316 configured for encrypting data (e.g., information that can be used to identify one or more subjects, genetic information, etc.), where the encryption module 316 may include: o homomorphic encryption module 318 configured for homomorphically encrypting the data;

• sending module 320 configured for sending data (e.g., to the computer system 200), where the sending module 320 may include: o packaging module 322 configured for preparing a package (e.g., a message), for example by combining data of different types (e.g., genetic information or an encryption thereof with information identifying a subject of the genetic information);

• receiving module 324 configured for receiving one or more genetic indicators from the computer system 200, where the receiving module 324 may include: o parsing module 326 configured for parsing information received from the computer system 200 to extract the one or more genetic indicators and/or the information identifying the subject;

• matching module 330 configured for comparing the encrypted genetic information received from the computer system 200 with the encrypted genetic information 350 stored in the source device 300, where the matching module 330 may include: o homomorphic encrypted matching module 332 configured for matching the encrypted genetic information received from the computer system 200 and the encrypted genetic information 350 stored in the source device 300, where both the encrypted genetic information received from the computer system 200 and the encrypted genetic information 350 are homomorphically encrypted; and

• output module 334 configured for providing one or more outputs based on information from the matching module 330;

• user input module 340 configured for receiving and processing user inputs (e.g., user inputs received through the user interface 303); and

• database module 342 configured for interaction with the encrypted genetic information 350 (e.g., retrieving the encrypted genetic information 350 or a portion thereof or storing data into, or modifying, the encrypted genetic information 350).

[0070] Each of the above identified modules and applications correspond to a set of instructions for performing one or more functions described above. These modules (i.e., sets of instructions) need not be implemented as separate software programs, procedures or modules, and thus various subsets of these modules may be combined or otherwise re-arranged in various embodiments. In some embodiments, memory 306 may store a subset of the modules and data structures identified above. Furthermore, memory 306 may store additional modules and data structures not described above.

[0071] Notwithstanding the discrete blocks in Figures 1, 2, and 3, these figures are intended to be a functional description of some embodiments, although, in some embodiments, the discrete blocks in Figures 1, 2, and 3 can be a structural description of functional elements in the embodiments. One of ordinary skill in the art will recognize that an actual implementation might have the functional elements grouped or split among various components. In practice, and as recognized by those of ordinary skill in the art, items shown separately could be combined and some items could be separated.

[0072] Figures 4A and 4B are flow diagrams illustrating operations of computer system

200 and source device 300 and their interactions in accordance with some embodiments.

[0073] As shown in Figure 4 A, in some cases, the source device 300 (402) encrypts data (e.g., information identifying a subject and/or genetic information). Alternatively, the source device 300 may receive, from another device (e.g., a second device that is distinct and separate from the source device 300), data that has been encrypted (e.g., by the second device or yet another device, such as a third device that is distinct and separate from the source device 300 and the second device).

[0074] The source device 300 (404) provides genetic information associated with a subject and information identifying the subject (e.g., a medical record number or any other identification number, or a genetic pattern that can identify the subject). In some embodiments, the source device 300 encrypts the data or accesses the encrypted data in conjunction with providing the genetic information and the information identifying the subject (e.g., the source device 300 encrypts the data in response to a request to provide the genetic information and/or the information identifying the subject). In some embodiments, the source device 300 encrypts the data or accesses the encrypted data prior to providing the genetic information and the information identifying the subject independently of a request to provide the genetic information and/or the information identifying the subject.

[0075] The computer system 200 (406) receives the genetic information and the information identifying the subject (e.g., directly from the source device 300 or through one or more relay devices 130). The computer system 200 (408) obtains one or more genetic indicators from the received genetic information. For example, the computer system 200 may determine a polygenic risk score for a particular disease based on the genetic information. Additionally or alternatively, the computer system 200 may identify one or more mutations or variations, in the genetic information, associated with a particular disease (e.g., an increased or reduced risk of the particular disease).

[0076] The computer system 200 (410) provides the one or more genetic indicators with the information identifying the subject (e.g., back to the source device 300 directly or through one or more intermediary device, such as one or more relay devices 130). In some embodiments, the computer system 200 stores the information identifying the subject that has been provided with the genetic information, and provides the stored information identifying the subject along with the one or more genetic indicators.

[0077] The source device 300 (412) receives the one or more genetic indicators with the information identifying the subject.

[0078] The source device 300 (414) determines a match for the information identifying the subject. In some embodiments, determining the match includes comparing (i) the information identifying the subject as provided by the source device 300 in connection with operation 404 and (ii) the information identifying the subject as received from the computer system 200 in connection with operation 412. For example, in accordance with a determination that (i) the information identifying the subject as provided by the source device 300 in connection with operation 404 and (ii) the information identifying the subject as received from the computer system 200 in connection with operation 412 are identical, the source device 300 determines that there is a match for the information identifying the subject.

[0079] In accordance with the determination of a match, the source device 300 (416) provides an output associated with the match. For example, the source device 300 may update its database to update the medical record for the subject (e.g., to indicate the increased or reduced risk of a particular disease) based on the one or more genetic indicators received from the computer system 200. In some embodiments, the source device 300 also provides one or more outputs to provide a notice associated with the match.

[0080] In some embodiments, in accordance with a determination that there is no match, the source device 300 (418) ignores or disregards the one or more genetic indicators received from the computer system 200.

[0081] The operations described with respect to Figure 4A may be used between a computer system with patient’s genetic information (e.g., the source device 300) and a computer system with one or more analysis modules for analyzing the genetic information (e.g., the computer system 200). In some embodiments, the information identifying the subject is encrypted so that the subject may not be identified (e.g., without decrypting the information identifying the subject). This enhances the protection when genetic information is transmitted from the source device 300 to the computer system 200. For example, even if the communication from the source device 300 to the computer system 200 is accessed (e.g., intercepted) by an unauthorized user or device, the intercepted information will not reveal the identity of the subject because the information identifying the subject is encrypted. In addition, while the computer system 200 stores in the information identifying the subject, the information identifying the subject remains encrypted. Thus, even if information on the computer system 200 is accessed by an unauthorized person or device, the identity of the subject is not revealed because the information identifying the subject remains encrypted. Furthermore, when the computer system 200 provides the one or more genetic indicators back to the source device 300, the one or more genetic indicators are provided with the encryption of the information identifying the subject. Thus, even if the communication from the computer system 200 to the source device 300 is accessed (e.g., intercepted) by an unauthorized user or device, the intercepted information will not reveal the identity of the subject because the information identifying the subject remains encrypted. Therefore, the operations described with respect to Figure 4A enhance the privacy and protection of the personally identifiable information while the genetic information and related information (e.g., genetic indicators) are transferred between the two computer systems. The enhanced protection is particularly significant when the two computer systems are located remotely from each other, such as in different buildings, cities, states, or geographies, and/or when the two computer systems are operated by different entities, which may increase the chance of interception (e.g., by using packet sniffers, network analyzers, etc.).

[0082] Figure 4B illustrates additional features of the operations between the source device 300 and the computer system 200 in accordance with some embodiments.

[0083] As shown in Figure 4B, the computer system 200 (420) accesses (e.g., receives from the source device 300) genetic information associated with a subject and (430) determines a criteria match for selection criteria with the genetic information. For example, the computer system 200 determines that the genetic information of the subject matches a particular genetic pattern based on selection criteria. The computer system 200 subsequently (440) broadcasts encrypted information (e.g., a homomorphically encrypted pattern (corresponding to the particular genetic pattern or any other pattern in the genetic information), or an encryption of information identifying the subject) based on the match.

[0084] The source device 300 among a plurality of source devices (450) receives the broadcasting including the encrypted information, and (460) determines whether the received encrypted information matches encrypted information stored in the source device 300 (e.g., encryption of the information identifying a subject). The source device 300, in accordance with a determination that the received encrypted information matches the encrypted information stored in the source device 300, (470) provides an output indicating the match.

[0085] In some embodiments, the output includes sending confirmation information to the computer system 200. The computer system 200 (480) receives the confirmation information from the source device 300. In some embodiments, the confirmation information includes information identifying the source device 300 (which may identify the source device 300 among a plurality of source devices).

[0086] In some embodiments, the output provided by the source device 300 prompts the subject to visit a medical clinic, where genetic material of the subject is collected (490) and analyzed. The analysis of the genetic material may confirm the identity of the user (as a person requiring medical advice or intervention) and/or the presence of a genetic profile (e.g., mutations) associated with a particular disease. Alternatively, the subject may send or provide the genetic material of the subject to a laboratory alone or with an assistance of a medical personnel so that the identity of the user may be confirmed.

[0087] Figures 5A-5E illustrate certain data structures in accordance with some embodiments.

[0088] Figure 5 A illustrates a data structure of genetic information 350 stored in the source device 300 in accordance with some embodiments.

[0089] The data structure shown in Figure 5A includes genetic information 504 (e.g., an example of genetic information 350) for a plurality of subjects (identified by, for example, subject identifiers 502-1 through 502-m). The genetic information of a respective subject (e.g., one or more of genetic information 504-1 through 504-m) may include nucleic acid sequence (e.g., deoxyribonucleic acid (DNA) sequence) of the respective subject. In some embodiments, the genetic information includes whole genome sequence of the respective subject. In some embodiments, the genetic information includes whole exome sequence of the respective subject. In some embodiments, the genetic information includes one or more portions of the whole genome sequence of the respective subject (e.g., the sequence of a particular gene or a chromosome, etc. or a portion thereof).

[0090] The genetic information 504 includes one or more genetic patterns. For example, the genetic information 504-1 for subject ID 502-1 includes a first genetic pattern (e.g., a genetic pattern 506-1 at a first location of the subject’s nucleic acid sequence includes a genetic mutation, such as a single nucleotide polymorphism), whereas the genetic information 504-1 does not include a second genetic pattern (e.g., a genetic pattern 508-1 at a second location of the subject’s nucleic acid sequence does not includes a genetic mutation, such as a single nucleotide polymorphism). In another example, the genetic information 504-2 for subject ID 502-2 includes the first genetic pattern (e.g., a genetic pattern 506-2 at the first location of the subject’s nucleic acid sequence includes a genetic mutation, such as a single nucleotide polymorphism), and the genetic information 504-2 also includes the second genetic pattern (e.g., a genetic pattern 508-2 at the second location of the subject’s nucleic acid sequence includes a genetic mutation, such as a single nucleotide polymorphism). In yet another example, the genetic information 504-m for subject ID 502-m does not include the first genetic pattern (e.g., a genetic pattern 506-m at the first location of the subject’s nucleic acid sequence does not include a genetic mutation, such as a single nucleotide polymorphism), and the genetic information 504-m does not include the second genetic pattern (e.g., a genetic pattern 508-m at the second location of the subject’s nucleic acid sequence does not include a genetic mutation, such as a single nucleotide polymorphism).

[0091] The genetic information 504 shown in Figure 5A also includes a genetic pattern 505 that may (e.g., uniquely) identify the subject (e.g., short tandem repeats). For example, the genetic pattern 505-1 may (e.g., uniquely) identify the subject corresponding to subject ID 502- 1, the genetic pattern 505-2 may (e.g., uniquely) identify the subject corresponding to subject ID 502-2, and the genetic pattern 505-m may (e.g., uniquely) identify the subject corresponding to subject ID 502-m.

[0092] Although Figure 5 A shows three genetic patterns in the genetic information 504, in some embodiments, the genetic information includes fewer (e.g., one or two) or more (e.g., four or more) genetic patterns.

[0093] In some embodiments, the data structure of genetic information 250 also includes information identifying respective subjects (e.g., subject identifiers 502, such as medical record numbers). Additionally or alternatively, the genetic pattern 505 that may identify (or identifies) the subject may be used as the information identifying respective subjects.

[0094] In some embodiments, the genetic information 250 is stored in the source device 300 with encryption. In some other embodiments, the genetic information is stored in the source device 300 without encryption. In some embodiments, the genetic information 250 or a portion thereof is encrypted in response to a request or instruction to provide the genetic information (or the portion thereof).

[0095] In some embodiments, the information identifying respective subjects is stored in the source device 300 with encryption. In some other embodiments, the information identifying respective subjects is stored in the source device 300 without encryption. In some embodiments, the information identifying one or more subjects is encrypted in response to a request or instruction to provide the information identifying the one or more subjects.

[0096] Figure 5B illustrates a data structure of information provided by the source device 300 in accordance with some embodiments.

[0097] A message provided by the source device 300 includes genetic information 520 (e.g., the genetic information 504-1 or a portion thereof, such as the genetic patterns 506-1 and 508-1) of a subject. For example, the genetic information 520 may include an encryption 516 of the genetic pattern 506-1 and an encryption 518 of the genetic pattern 508-1. In some configurations, the genetic information 520 includes concurrent encryption of two or more genetic patterns (e.g., the genetic patterns 506-1 and 508-1). For example, the two or more genetic patterns may be encrypted in a single encryption operation. In some configurations, the genetic information 520 includes separate encryptions of two or more genetic patterns (e.g., the encryption 516 of the genetic pattern 506-1 and the encryption 518 of the genetic pattern 508-1). For example, respective genetic patterns are encrypted separately and grouped together (e.g., concatenated).

[0098] In some embodiments, the message also includes information 510 identifying the subject (e.g., the subject identifier 502-1 and/or the genetic pattern 505-1). For example, the information 510 identifying the subject may include an encryption 516 of the subject identifier 502-1 and an encryption 515 of the genetic pattern 505. In some configurations, the information 510 identifying the subject includes concurrent encryption of the subject identifier 502-1 and the genetic pattern 505-1. For example, the subject identifier 502-1 and the genetic pattern 505-1 may be encrypted in a single encryption operation. In some configurations, the information 510 identifying the subject includes separate encryptions of the subject identifier 502-1 and the genetic pattern 505-1 (e.g., the encryption 512 of the subject identifier 502-1 and the encryption 515 of the genetic pattern 505-1). For example, the subject identifier 502-1 and the genetic pattern 505-1 are encrypted separately and grouped together (e.g., concatenated).

[0099] In some embodiments, the message provided by the source device 300 also includes other information.

[00100] In some embodiments, the message includes genetic information 520 and identifier information 510 for a single subject. In some embodiments, the message includes genetic information 520 and identifier information 510 for multiple subjects.

[00101] Figure 5C illustrates a data structure of genetic information 250 stored in the computer system 200 in accordance with some embodiments.

[00102] The data structure shown in Figure 5C includes genetic information 554 (e.g., an example of genetic information 250) for one or more subjects (associated with, for example, subject identifiers 552-1 through 552-q). At least a portion of the subject identifiers 552-1 through 552-q corresponds to one or more subject identifiers 502-1 through 502-m described with respect to Figure 5A. For example, the subject identifiers 552-1 through 552-q may be a subset of the subject identifiers 502-1 through 502-m. In another example, the subject identifiers 552-1 through 552-q include one or more subject identifiers selected from the subject identifiers 502-1 through 502-m (e.g., the source identifiers provided by a first source device, such as the source device 300-1) and one or more subject identifiers from another source device (e.g., a second source device, such as the source device 300-k). In some embodiments, the one or more subject identifiers 552 in the genetic information 554 are encrypted (e.g., in cyphertext). For example, the subject identifiers 552-1 through 552-q may be received by the computer system 200 in an encrypted format.

[00103] The genetic information 554 of a respective subject (e.g., one or more of genetic information 554-1 through 554- q) corresponds to the genetic information 504 or a subset or superset thereof. For example, the genetic information 554-1 through 554-q may be a subset of the genetic information 504-1 through 504-m described with respect to Figure 5 A. In another example, the genetic information 554-1 through 554-q include one or more selected from the genetic information 504-1 through 504-m (e.g., the genetic information received from a first source device, such as the source device 300-1) and genetic information received from another source device (e.g., a second source device, such as the source device 300-k). In some embodiments, one or more of the genetic information 554-1 through 554-q are encrypted (e.g., in ciphertext). For example, the genetic information 554-1 through 554-q may be received by the computer system 200 in an encrypted format. In some embodiments, one or more of the genetic information 554-1 through 554-q are not encrypted (e.g., in plaintext).

[00104] Similar to the genetic information 504, the genetic information 554 includes one or more genetic patterns. For example, the genetic information 554-1 for subject ID 552-1 includes a first genetic pattern (e.g., a genetic pattern 556-1 at a first location of the subject’s nucleic acid sequence includes a genetic mutation, such as a single nucleotide polymorphism), whereas the genetic information 554-1 does not include a second genetic pattern (e.g., a genetic pattern 558-1 at a second location of the subject’s nucleic acid sequence does not includes a genetic mutation, such as a single nucleotide polymorphism). In another example, the genetic information 554-2 for subject ID 552-2 includes the first genetic pattern (e.g., a genetic pattern 556-2 at the first location of the subject’s nucleic acid sequence includes a genetic mutation, such as a single nucleotide polymorphism), and the genetic information 554-2 includes the second genetic pattern (e.g., a genetic pattern 558-2 at the second location of the subject’s nucleic acid sequence includes a genetic mutation, such as a single nucleotide polymorphism). In yet another example, the genetic information 554-q for subject ID 552-q does not include the first genetic pattern (e.g., a genetic pattern 556-q at the first location of the subject’s nucleic acid sequence does not include a genetic mutation, such as a single nucleotide polymorphism), and the genetic information 554-q does not include the second genetic pattern (e.g., a genetic pattern 558-q at the second location of the subject’s nucleic acid sequence does not include a genetic mutation, such as a single nucleotide polymorphism). The genetic pattern 556-1 may correspond to an encryption of the genetic pattern 506-1.

[00105] The genetic information 554 shown in Figure 5C also includes a genetic pattern 555 that may uniquely identify the subject (e.g., short tandem repeats). For example, the genetic pattern 555-1 may uniquely identify the subject corresponding to subject ID 552-1, the genetic pattern 555-2 may uniquely identify the subject corresponding to subject ID 552-2, and the genetic pattern 555-q may uniquely identify the subject corresponding to subject ID 552-q. The genetic pattern 555-1 may correspond to an encryption of the genetic pattern 505-1.

[00106] Although Figure 5C shows three genetic patterns in the genetic information 554, in some embodiments, the genetic information includes fewer (e.g., one or two) or more (e.g., four or more) genetic patterns.

[00107] In some embodiments, the data structure of genetic information 250 also includes information identifying respective subjects (e.g., subject identifiers 552, such as medical record numbers). In some embodiments, when the genetic information 554 includes the genetic pattern 555, the genetic information 250 may not include the subject identifiers 552. In some embodiments, the genetic information 250 includes both the subject identifiers 552 and the genetic pattern 555, and both the subject identifiers 552 and the genetic pattern 555 are used to identify subjects.

[00108] Figure 5D illustrates an example of a data structure of information used by the processing module 226 in accordance with some embodiments.

[00109] The data structure shown in Figure 5D includes one or more criteria 228 (e.g., criteria 1 (228-1) through criteria p (228-p)) for selecting one or more genetic patterns.

[00110] In some embodiments, the data structure also includes one or more thresholds 230 (e.g., threshold 1 (230-1) through threshold p (230-p)). For example, when the one or more criteria 228 require comparison of (i) a value determined based on one or more genetic patterns in the genetic information and (ii) a respective threshold, the one or more thresholds 230 may include the respective threshold for the comparison.

[00111] In some embodiments, the data structure further includes risk scoring information 560 for determining a risk score associated with a particular ailment for a particular subject. In some embodiments, the risk scoring information includes polygenic risk score (PRS) information (e.g., PRS 1 (560-1) through PRS p (560-p)) for operation of the polygenic risk score determination module 232. In some embodiments, the risk scoring information includes information for risks associated with non-genetic indicators (e.g., non-genetic biomarkers). In some embodiments, the PRS information includes information necessary for determining a PRS. For example, the PRS information may include identification of one or more genetic patterns, information identifying a type of PRS equation (e.g., an additive model, an interaction model, etc.), and/or coefficients (e.g., regression coefficients when the PRS equation is based on regression).

[00112] In some embodiments, the data structure includes one or more messages 562 (e.g., message 1 (562-1) through message p (562-p)). For example, message 1 (562-1) may be sent out to the source device 300 when the criteria 1 (228-1) are satisfied. Subsequently, the source device 300 may present message 1 when the received genetic pattern matches the genetic information accessible by (e.g., stored in) the source device 300. In some embodiments, the one or more messages include messages that are sent out to the source device 300 when corresponding criteria are satisfied. The one or more messages 562 do not include any personally identifiable information or any protected health information. [00113] Figure 5E illustrates a data structure of information provided (e.g., broadcast) by the computer system 200 in accordance with some embodiments.

[00114] In some embodiments, the information provided by the computer system 200 includes a subject identifier 550. In some embodiments, the subject identifier 550 corresponds to an encryption of a subject identifier stored in connection with the genetic information 250 (e.g., the subject identifier 552-1).

[00115] In some embodiments, the information provided by the computer system 200 includes one or more genetic patterns, including a genetic pattern that may uniquely identify an individual (e.g., encrypted genetic pattern 565 corresponding to genetic pattern 555 including short tandem repeats). Additionally or alternatively, the one or more genetic patterns may include other genetic patterns (e.g., first encrypted genetic pattern 566 corresponding to genetic pattern 566 and second encrypted genetic pattern 568 corresponding to second genetic pattern 558). In some embodiments, the one or more genetic patterns do not include a genetic pattern that may uniquely identify an individual (regardless of whether the genetic pattern that may uniquely identify an individual is encrypted or not). In some embodiments, the one or more genetic patterns include encrypted genetic patterns. In some embodiments, the one or more genetic patterns are encrypted. In some embodiments, the one or more genetic patterns are encrypted separately (e.g., as shown in Figure 5E, the information provided by the computer system 200 includes the first encrypted genetic pattern 566, which corresponds to an encryption of first genetic pattern 556, the second encrypted genetic pattern 568, which corresponds to an encryption of second genetic pattern 558, and encrypted genetic pattern 565, which corresponds to an encryption of genetic pattern 555). In some embodiments, the one or more genetic patterns are encrypted together (e.g., first genetic pattern 556 and second genetic pattern 558 may be encrypted together to provide a single encrypted genetic pattern, or first genetic pattern 556, second genetic pattern 558, and genetic pattern 555 may be encrypted together to provide a single encrypted genetic pattern).

[00116] In some embodiments, the information provided by the computer system 200 also includes a message 562, which may be presented by the source device 300 upon determining a match between the one or more genetic patterns and the genetic information accessible by (e.g., stored in) the source device 300.

[00117] In some embodiments, the information provided by the computer system 200 further includes other information, such as header information for transmission through the communications networks 106. 1 [00118] In some embodiments, as shown in Figure 5E, the information provided by the computer system 200 does not include protected health information other than genetic information. In some other embodiments, the information broadcast by the computer system 200 may include some protected health information (e.g., subject ID 552).

[00119] Figure 5F illustrates example locations of genetic patterns (e.g., short tandem repeats) used to identify individuals in accordance with some embodiments. Shown in Figure 5F are thirteen loci (and their chromosomal positions) of short tandem repeats used by the Combined DNA Index System (CODIS). Although Figure 5F shows thirteen loci, more or fewer loci may be used (e.g., 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, or more loci or 12, 11, 10, 9, 8, 7, 6, 5, 4, 3, or 2 loci).

[00120] In some embodiments, the genetic pattern 505 shown in Figure 5A and/or the genetic pattern 555 shown in Figure 5C includes repeat values at one or more loci. For example, the repeat values may be represented in the following format:

Table 1. Example genetic information with repeat values for short tandem repeats

[00121] Figures 6A-6B illustrate a flow diagram representing a method 600 for securely providing genetic information in accordance with some embodiments.

[00122] The method 600 includes (610) receiving genetic information associated with a subject and information identifying the subject. For example, the computer system 200 may receive a message that contains (i) genetic information associated with the subject and (ii) information identifying the subject from a source device 300-1 as shown in Figure 4A. In some embodiments, the message has the data structure shown in Figure 5B. In some embodiments, the method 600 includes receiving genetic information associated with a subject and information identifying the subject concurrently. In some embodiments, the method 600 includes receiving genetic information associated with a subject prior to information identifying the subject concurrently. In some embodiments, the method 600 includes receiving genetic information associated with a subject subsequent to information identifying the subject concurrently.

[00123] In some embodiments, the information identifying the subject includes personally identifiable information, such as a name, address (e.g., physical address and/or email address), phone number, date of birth, or one or more identification numbers assigned to identify the subject (e.g., a Social Security number, a driver’s license number, a medical record number, etc.).

[00124] In some embodiments, the information identifying the subject includes (612) a genetic pattern associated with the subject. In some embodiments, the genetic pattern includes (614) a short tandem repeat (STR) (e.g., Figure 5F) in the genetic information to identify the subject. In some embodiments, the short tandem repeat (STR) in the genetic information uniquely identifies the subject (e.g., the use of 15 short tandem repeats may distinguish 1 in 30 people to 1 in several hundred billion people). Humans generally have different lengths of short tandem repeats, and thus, the lengths of short tandem repeats may be used to identify or profile individuals. In some embodiments, the genetic pattern includes lengths of two or more short tandem repeat markers (e.g., 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 40, 50, 60, 70, 80, 90, 100 or more, or within an interval between any two of the aforementioned values). In some embodiments, the genetic pattern includes eighteen short tandem repeats (e.g., lengths of short tandem repeats for eighteen different short tandem repeat markers). In some embodiments, the genetic pattern includes twenty-three short tandem repeats (e.g., lengths of short tandem repeats for twenty -three different short tandem repeat markers). In some embodiments, the genetic pattern includes variable number tandem repeats (VNTR) in the genetic information to identify the subject. In some embodiments, when the information identifying the subject includes the genetic pattern associated with the subject, the information identifying the subject excludes other personally identifiable information (e.g., name, address, phone number, identification number, etc.). This enhances the privacy of the subject.

[00125] In some embodiments, the information identifying the subject (616) is encrypted. For example, the computer system 200 receives the information identifying the subject in an encrypted form so that a user of the computer system 200 may not identify the subject based on the encryption of the information identifying the subject alone.

[00126] In some embodiments, the information identifying the subject (618) is homomorphically encrypted. Homomorphic encryption is an encryption method that permits computations (e.g., additions, subtractions, multiplication, division, etc.) on encrypted data to provide computed encrypted data without decryption so that the computed encrypted data, after subsequent decryption, provide a result that corresponds to an output that would have been obtained by first decrypting the encrypted data and subsequently performing the same computations on decrypted or unencrypted data. Thus, homomorphic encryption facilitates maintaining security and privacy while the homomorphically encrypted data is provided (e.g., transmitted, broadcast, etc.). In some embodiments, the information identifying the subject is partially homomorphically encrypted (e.g., allowing only certain mathematical functions to be performed on encrypted values). In some embodiments, the information identifying the subject is somewhat homomorphically encrypted (e.g., allowing only certain mathematical functions up to a certain complexity to be performed on encrypted values). In some embodiments, the information identifying the subject is fully homomorphically encrypted. In some embodiments, the information identifying the subject is encrypted by a method other than homomorphic encryption.

[00127] An example of homomorphic encryption is described below. In this example, R is a real number (or real numbers). X_s, X_e, and Xr are distributions (e.g., Gaussian distributions) over R. q is a quotient modulus, and t is a plaintext modulus. Rq is R modulo q. For example, R? = [0, 1, 2, 3, 4, 5, 6], Rt is R modulo t. For example, Rt = [0, 1, 2, 3, 4, 5, 6], [00128] For key generation, a value 5 is selected from X_s (e.g., 5). The value 5 represents a secret key used for both encryption and decryption.

[00129] For encryption, a value a is uniformly sampled from Rq (e.g., [1, 97, 21, 69, 42, ..., 3]). A value e is uniformly sampled from X_e, a value e ’ is uniformly sampled from X_e, and a public key pk is set as (-(a s+e), a). The public key is a key pair (having the two values -(a s+e) and a, both of which are within Rq).

[00130] A value r is selected from Xr (e.g., 3).

[00131] A value b is calculated as b = -(a s +e) and 5 is calculated as 5 =q/t. For message mi, first ciphertext (encrypted text) cto is determined as cto = r b + eo + 5- mi, and second ciphertext cti is determined as cti = r a + ei. A pair of the first ciphertext cto and the second cipher text cti is provided as encrypted message ct, where ct = (cto, cti).

[00132] The encrypted message may be decrypted by calculating, for example, the following:

[ctO + cti • s]_q / 5 = [mi + err/5]q where [ ]q represents a set of numbers with a particular remainder when divided by q (or a remainder when divided by q such that []q serves as a modulus operator), and err represents the following: err = -e • r + eo + ei • s.

[00133] Thus, from the encrypted message, the remainder of the original message mi can be obtained (with a certain level of error).

[00134] In some embodiments, the entire message is encrypted or decrypted collectively. In some embodiments, the message is encrypted or decrypted piecewise. For example, the message may be represented (or representable) in a binary format, where each bit is encrypted or decrypted separately.

[00135] In some embodiments, the genetic information associated with the subject is encrypted (e.g., the genetic information associated with the subject is provided in ciphertext). This increases the security of the genetic information. In some embodiments, the genetic information associated with the subject and the information identifying the subject are encrypted by the same encryption method. In some embodiments, the genetic information associated with the subject is encrypted with a first encryption method and the information identifying the subject are encrypted by a second encryption method that is distinct from the first encryption method. For example, the genetic information associated with the subject is encrypted by the Advanced Encryption Standard (AES) method and the information identifying the subject are encrypted by a homomorphic encryption method. In another example, the genetic information associated with the subject is encrypted by a first homomorphic encryption method and the information identifying the subject are encrypted by a second homomorphic encryption method that is distinct from the first homomorphic encryption method.

[00136] In some embodiments, the genetic information associated with the subject is not encrypted (e.g., the genetic information associated with the subject is provided in plaintext).

[00137] In some embodiments, the method includes (620) determining whether the genetic information satisfies predefined criteria. For example, the computer system 200 may determine whether the received genetic information includes information for all of the genetic patterns identified in the risk scoring information 560. In some cases, the computer system 200 determines that the received genetic information does not include all of the genetic patterns required for the polygenic risk scoring, and the computer system 200 may cease to process the genetic information. In some cases, the computer system 200 may also provide an indication (e.g., a visual message for display on a display device or an electronic message sent to the source device) that the received genetic information does not include all of the genetic patterns required for the polygenic risk scoring. In some embodiments, the computer system 200 determines that the received genetic information does not include all of the genetic patterns required for the polygenic risk scoring, but proceed to determine one or more polygenic risk scores in accordance with a determination that a variation (e.g., a scoring coefficient) associated with the missing genetic pattern is less than a predefined threshold.

[00138] The method 600 also includes (630) processing the genetic information to obtain one or more genetic indicators (e.g., an indication of whether the genetic information includes a genotype associated with a particular disease or a likelihood of the particular disease, etc.).

[00139] In some embodiments, the one or more genetic indicators include (632) information identifying one or more genetic mutations. For example, the one or more genetic indicators may identify one or more genetic mutations, in the genetic information, that are associated with one or more diseases.

[00140] In some embodiments, the one or more genetic indicators include (634) a polygenic risk score. For example, the method includes determining whether a polygenic risk score satisfies one or more thresholds (e.g., threshold score of 50 for a polygenic risk score scheme in which the polygenic risk score ranges between 0 and 100, where a polygenic risk score above the threshold score indicates a high risk of an ailment and a polygenic risk score below the threshold score indicates a low risk of the ailment).

[00141] In some embodiments, the polygenic risk score is determined by the polygenic risk score module 232. For example, the polygenic risk score module 232 may perform a score calculation by using the following equation:

Y = B1 X1 + B2 X2 + ... BZ XZ where Y is the polygenic risk score (for a particular ailment), Bi is a regression coefficient for the i-th genetic pattern (e.g., a genetic variant), Xi indicates the presence or absence of the genetic mutation for the i-th genetic pattern, and i ranges from 1 to z, which indicates the number of genetic variants used for the polygenic risk score. In some implementations, Xi has a value of 0 when no mutation is present and a value of 1 when a mutation is present (regardless of hetero/homozygosity). In some other implementations, Xi has a value of 0 when no mutation is present, a value of 1 when mutation is present in a single allele (heterozygous), and a value of 2 when mutation is present both alleles (homozygous).

[00142] In some embodiments, processing the genetic information includes (636) determining one or more polygenic risk scores based on the genetic information.

[00143] In some embodiments, the method includes, when the received genetic information associated with the subject is encrypted, decrypting the received genetic information. For example, processing the genetic information may include decrypting the received genetic information and determining the one or more polygenic risk scores based on the decrypted genetic information.

[00144] In some embodiments, the method includes, when the received genetic information associated with the subject is encrypted, processing the genetic information without decrypting the received genetic information. For example, processing the genetic information may include determining the one or more polygenic risk scores based on the encrypted genetic information. For example, the polygenic risk scores may be determined directly from homomorphically encrypted genetic information. In some cases, the determined polygenic risk scores are also homomorphically encrypted, and the computer system 200 provides the determined polygenic risk scores, that are homomorphically encrypted, to one or more source devices 300. At least one of the one or more source devices 300 receives the homomorphically encrypted polygenic risk scores and decrypts the homomorphically encrypted polygenic risk scores to obtain unencrypted polygenic risk scores.

[00145] In some embodiments, processing the genetic information includes (638) applying a machine learning algorithm to the genetic information. For example, determining the one or more polygenic risk scores may be performed by applying one or more machine learning algorithms trained for decrypted or encrypted genetic information.

[00146] In some embodiments, processing the genetic information includes (640) selecting a subset of the genetic information for obtaining the one or more genetic indicators. For example, when the genetic information 554-1 includes the genetic pattern 556-1 and the genetic pattern 558-1, the computer system 200 may select only the genetic pattern 556-1 (and disregard the genetic pattern 558-1) for obtaining the one or more genetic indicators.

[00147] The method 600 further includes (650) providing the one or more genetic indicators with the information identifying the subject. For example, the computer system 200 provides (e.g., broadcasts) a message corresponding to the data structure shown in Figure 5E. In some embodiments, the information identifying the subject is encrypted. For example, the information identifying the subject may be homomorphically encrypted. This increases the protection of the transmitted genetic information as the identity of the subject may not be determined from the encrypted identifier information.

[00148] In some embodiments, the one or more genetic indicators, provided with the information identifying the subject, are (652) not encrypted. For example, the one or more genetic indicators may be provided in plaintext. In some embodiments, the one or more genetic indicators, provided with the information identifying the subject, are encrypted (e.g., homomorphically encrypted).

[00149] In some embodiments, one or more operations of the method 600 are performed by the computer system 200. For example, all of the operations shown in Figure 6 may be performed by the computer system 200. For example, in some embodiments, a method includes receiving, with the computer system 200, genetic information associated with a subject and information identifying the subject; processing, with the computer system 200, the genetic information to obtain one or more genetic indicators; and providing, with the computer system 200, the one or more genetic indicators with the information identifying the subject. In some embodiments, the computer system 200 receives genetic information associated with a subject and information identifying the subject; processing the genetic information to obtain one or more genetic indicators; and providing the one or more genetic indicators with the information identifying the subject. In some embodiments, all of the operations shown in Figure 6 are performed by the computer system 200.

[00150] Figures 7A-7B illustrate a flow diagram representing a method 700 for providing an output for a match in accordance with some embodiments.

[00151] In some embodiments, the method 700 includes (702) encrypting information identifying a subject. In some embodiments, the source device 300 encrypts the information identifying the subject prior to accessing genetic information associated with a subject.

[00152] In some embodiments, the method 700 includes accessing the information identifying the subject. In some embodiments, the method 700 includes accessing the genetic information associated with a subject.

[00153] The method 700 includes (710) providing genetic information associated with a subject and information identifying the subject. In some embodiments, the genetic information associated with the subject and the information identifying the subject are provided concurrently. In some embodiments, the genetic information associated with the subject is provided prior to providing the information identifying the subject. In some embodiments, the genetic information associated with the subject is provided subsequent to providing the information identifying the subject.

[00154] In some embodiments, the information identifying the subject includes (712) a genetic pattern associated with the subject. In some embodiments, the genetic pattern includes (714) a short tandem repeat in the genetic information to identify the subject.

[00155] In some embodiments, the information identifying the subject (716) is encrypted. In some embodiments, the information identifying the subject (718) is homomorphically encrypted.

[00156] The method 700 includes (720) receiving one or more genetic indicators with identifier information.

[00157] In some embodiments, the identifier information (722) is encrypted. In some embodiments, the identifier information (724) is homomorphically encrypted.

[00158] In some embodiments, the one or more genetic indicators include (726) a polygenic risk score.

[00159] In some embodiments, the one or more genetic indicators, provided with the information identifying the subject, (728) are not encrypted. [00160] In some embodiments, the one or more genetic indicators include (730) information identifying one or more genetic mutations.

[00161] The method 700 includes (740) determining a match between the information identifying the subject and the identifier information. In some embodiments, in accordance with a determination that the information identifying the subject matches the identifier information, the source device 300 determines that the one or more genetic indicators are associated with the subject. In some embodiments, in accordance with a determination that the information identifying the subject matches the identifier information, the source device 300 stores the one or more genetic indicators in connection with the subject. In some embodiments, in accordance with a determination that the identifier information does not match information identifying any subject (stored in the source device 300 or accessible by the source device 300), the source device 300 disregards the one or more genetic indicators.

[00162] The method 700 includes (750) providing an output associated with the match.

[00163] In some embodiments, the output associated with the match includes (752) a visual output.

[00164] In some embodiments, the output associated with the match includes (754) an audio output.

[00165] In some embodiments, the output associated with the match includes (756) a confirmation indicating the match.

[00166] In some embodiments, one or more operations of the method 700 are performed by the source device 300. In some embodiments, all of the operations of the method 700 are performed by the source device 300. For example, in some embodiments, a method includes providing, with the source device 300, genetic information associated with a subject and information identifying the subject; receiving, with the source device 300, one or more genetic indicators with identifier information; determining, with the source device 300, a match between the information identifying the subject and the identifier information; and providing, with the source device 300, an output associated with the match. In some embodiments, the source device 300 provides genetic information associated with a subject and information identifying the subject; receives one or more genetic indicators with identifier information; determines a match between the information identifying the subject and the identifier information; and provides an output associated with the match. In some embodiments, all of the operations of the method 700 are performed by the source device [00167] It will also be understood that, although the terms first, second, etc. may be used herein to describe various elements, these elements should not be limited by these terms. These terms are only used to distinguish one element from another. For example, a first device could be termed a second device, and, similarly, a second device could be termed a first device, without departing from the scope of the various described embodiments. The first device and the second device are both devices, but they are not the same device.

[00168] The terminology used in the description of the embodiments herein is for the purpose of describing particular embodiments only and is not intended to be limiting of the invention. As used in the description of the invention and the appended claims, the singular forms “a,” “an,” and “the” are intended to include the plural forms as well, unless the context clearly indicates otherwise. It will also be understood that the term “and/or” as used herein refers to and encompasses any and all possible combinations of one or more of the associated listed items. It will be further understood that the terms “comprises” and/or “comprising,” when used in this specification, specify the presence of stated features, integers, steps, operations, elements, and/or components, but do not preclude the presence or addition of one or more other features, integers, steps, operations, elements, components, and/or groups thereof.

[00169] As used herein, the term “if’ may be construed to mean “when” or “upon” or “in response to determining” or “in response to detecting,” depending on the context. Similarly, the phrase “if it is determined” or “if [a stated condition or event] is detected” may be construed to mean “upon determining” or “in response to determining” or “upon detecting (the stated condition or event)” or “in response to detecting (the stated condition or event),” depending on the context.

[00170] The foregoing description, for purpose of explanation, has been described with reference to specific embodiments. However, the illustrative discussions above are not intended to be exhaustive or to limit the scope of claims to the precise forms disclosed. Many modifications and variations are possible in view of the above teachings. The embodiments were chosen and described in order to best explain the principles of the various described embodiments and their practical applications, to thereby enable others skilled in the art to best utilize the invention and the various described embodiments with various modifications as are suited to the particular use contemplated.

Claims

What is claimed is:

1. A method, comprising: receiving genetic information associated with a subject and information identifying the subject; processing the genetic information to obtain one or more genetic indicators; and providing the one or more genetic indicators with the information identifying the subject.

2. The method of claim 1, wherein: the information identifying the subject includes a genetic pattern associated with the subject.

3. The method of claim 2, wherein: the genetic pattern includes a short tandem repeat in the genetic information to identify the subject.

4. The method of any of claims 1-3, wherein: the information identifying the subject is encrypted.

5. The method of claim 4, wherein: the information identifying the subject is homomorphically encrypted.

6. The method of any of claims 1-5, wherein: the one or more genetic indicators include a polygenic risk score.

7. The method of any of claims 1-6, wherein: the one or more genetic indicators, provided with the information identifying the subject, are not encrypted.

8. The method of any of claims 1-7, wherein: the one or more genetic indicators include information identifying one or more genetic mutations.

9. The method of any of claims 1-8, wherein: processing the genetic information includes determining one or more polygenic risk scores based on the genetic information.

10. The method of any of claims 1-9, wherein: processing the genetic information includes applying a machine learning algorithm to the genetic information.

11. The method of any of claims 1-10, further comprising: determining whether the genetic information satisfies predefined criteria.

12. The method of any of claims 1-11, wherein: processing the genetic information includes selecting a subset of the genetic information for obtaining the one or more genetic indicators.

13. A computer system, comprising: one or more processors; and memory storing one or more programs for execution by the one or more processors, the one or more programs including instructions, which, when executed by the one or more processors, cause the computer system to: receive genetic information associated with a subject and information identifying the subject; process the genetic information to obtain one or more genetic indicators; and provide the one or more genetic indicators with the information identifying the subject.

14. The computer system of claim 13, wherein the one or more programs include instructions, which, when executed by the one or more processors, cause the computer system to perform the method of any of claims 2-12.

15. A computer readable storage medium storing one or more programs for execution by one or more processors of a computer system, the one or more programs including instructions for: receiving genetic information associated with a subject and information identifying the subject; processing the genetic information to obtain one or more genetic indicators; and providing the one or more genetic indicators with the information identifying the subject.

16. The computer readable storage medium of claim 15, wherein the one or more programs include instructions, which, when executed by the one or more processors, cause the computer system to perform the method of any of claims 2-12.

17. A method, comprising: providing genetic information associated with a subject and information identifying the subject; receiving one or more genetic indicators with identifier information; determining a match between the information identifying the subject and the identifier information; and providing an output associated with the match.

18. The method of claim 17, wherein: the information identifying the subject includes a genetic pattern associated with the subject.

19. The method of claim 18, wherein: the genetic pattern includes a short tandem repeat in the genetic information to identify the subject.

20. The method of any of claims 17-19, wherein: the information identifying the subject is encrypted.

21. The method of any of claims 20, wherein: the information identifying the subject is homomorphically encrypted.

22. The method of any of claims 17-21, including: encrypting the information identifying the subject.

23. The method of any of claims 17-22, wherein: the identifier information is encrypted.

24. The method of any of claims 23, wherein: the identifier information is homomorphically encrypted.

25. The method of any of claims 17-24, wherein: the one or more genetic indicators include a polygenic risk score.

26. The method of any of claims 17-25, wherein: the one or more genetic indicators, provided with the information identifying the subject, are not encrypted.

27. The method of any of claims 17-26, wherein: the one or more genetic indicators include information identifying one or more genetic mutations.

28. The method of any of claims 17-27, wherein: the output associated with the match includes a visual output.

29. The method of any of claims 17-28, wherein: the output associated with the match includes an audio output.

30. The method of any of claims 17-29, wherein: the output associated with the match includes a confirmation indicating the match.

31. A computer system, comprising: one or more processors; and memory storing one or more programs for execution by the one or more processors, the one or more programs including instructions, which, when executed by the one or more processors, cause the computer system to: provide genetic information associated with a subject and information identifying the subject; receive one or more genetic indicators with identifier information; determine a match between the information identifying the subject and the identifier information; and provide an output associated with the match.

32. The computer system of claim 31, wherein the one or more programs include instructions, which, when executed by the one or more processors, cause the computer system to perform the method of any of claims 18-30.

33. A computer readable storage medium storing one or more programs for execution by one or more processors of a computer system, the one or more programs including instructions for: providing genetic information associated with a subject and information identifying the subject; receiving one or more genetic indicators with identifier information; determining a match between the information identifying the subject and the identifier information; and providing an output associated with the match.

34. The computer readable storage medium of claim 33, wherein the one or more programs include instructions, which, when executed by the one or more processors, cause the computer system to perform the method of any of claims 18-30.