# US 2020/0286602 A1 · Person-centric genomic services framework and integrated genomics platform and systems > Agents: this data is available as JSON from the patentgrep API and MCP server — see https://patentgrep.com/llms.txt - Number: US 2020/0286602 A1 - Document ID: US20200286602A1 - Status: Published application - Kind: A1 - Application number: 16/296,664 - Filed: 2019-03-08 - Published: 2020-09-10 - Earliest claimed: 2019-03-08 - Assignees: International Business Machines Corporation - Applicants: International Business Machines Corporation - Inventors: Pengwei Yang; Cheryl L. Eifert; Kirk A. Beaty; Fang Wang - Web page: https://patentgrep.com/patent/US20200286602A1 ## CPC - G16H 10/60: for patient-specific data, e.g. for electronic patient records - G06F 16/23: Updating - G06F 40/279: Recognition of textual entities - G06N 5/022: Knowledge engineering; Knowledge acquisition - G16B 50/10: Ontologies; Annotations - G16B 50/20: Heterogeneous data integration - G16H 10/20: for electronic clinical trials or questionnaires - G06N 20/00: Machine learning - G16H 50/20: for computer-aided diagnosis, e.g. based on medical expert systems - G16H: HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA - G06F: ELECTRIC DIGITAL DATA PROCESSING (computer systems based on specific computational models G06N) - G06N: COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS - G16B: BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY ## Abstract Computer based methods, systems, and computer readable media for providing genomic services are provided. A request is received from a user. The request is applied to one or more from a group of a personalized data repository for the user and supporting knowledge bases, wherein the personalized data repository includes genetic test results, health/clinical information, and insurance coverage, and wherein the knowledge bases include information pertaining to genetic tests and clinical guidelines. Data from the applied request is integrated with results from service modules performing one or more from a group of content search, variation interpretation, and report generation to produce results for the request. The personalized data repository and supporting knowledge bases are updated based on the results of the request. Surveillance services are triggered based on one or more events. ## Claims ### Claim 1 A method of providing genomic services comprising: receiving a request from a user; applying the request to one or more from a group of a personalized data repository for the user and supporting knowledge bases, wherein the personalized data repository includes genetic test results, health/clinical information, and insurance coverage, and wherein the knowledge bases include information pertaining to genetic tests and clinical guidelines; integrating data from the applied request with results from service modules and performing one or more from a group of content search, variation interpretation, and report generation to produce results for the request; updating the personalized data repository and supporting knowledge bases based on the results of the request; and triggering surveillance services based on one or more events. ### Claim 2 (depends on 1) The method of claim 1, wherein the request pertains to a multigene panel selection, and the method further comprises: retrieving information for the multigene panel selection from the personalized data repository and supporting knowledge bases; determining gene composition for one of a basic panel and a multiple expansive panel based on the retrieved information; and performing services based on the determined panel including one or more from a group of: NGS sequencing and variant interpretation/clinical management, genetic screening/testing advice, gene panel updating, producing new guidelines, identifying new genes/variations, and identifying personal health status changes. ### Claim 3 (depends on 1) The method of claim 1, wherein the request comprises an environmental factor or a social factor, and the method further comprising: applying the request to the personalized data repository, wherein the personalized data repository comprises the environmental factor or the social factor for each of a population of users; integrating data pertaining to the environmental factor or the social factor for each of the population of individuals from the applied request with the results from the service modules; and analyzing the integrated data to determine whether the environmental factor or the social factor increases or decreases a prevalence of a disease in the population relative to a control population of individuals. ### Claim 4 (depends on 1) The method of claim 1, wherein the request comprises a genetic factor, and the method further comprising: applying the request to the personalized data repository for a population of users and supporting knowledge bases, wherein the personalized data repository comprises the genetic factor for each of a population of individuals; integrating data pertaining to the genetic factor for each of the population of individuals from the applied request with the results from the service modules; and analyzing the integrated data to determine whether the genetic factor increases or decreases a prevalence of a disease in the population relative to a control population of individuals. ### Claim 5 (depends on 1) The method of claim 1, further comprising: extracting, using a service module configured to perform natural language processing and machine learning, person-centric data pertaining to the applied request from the personalized data repository and from the supporting knowledge bases; and consolidating the extracted data and including the consolidated data in the results for the request. ### Claim 6 (depends on 2) The method of claim 2, further comprising: determining the gene composition for the multiple expansive panel based on one or more factors selected from the group consisting of medical factors, financial factors, clinical guideline factors, and technical factors. ### Claim 7 (depends on 1) The method of claim 1, further comprising: sending a notification to a user including the results of the surveillance request. ### Claim 8 (depends on 1) The method of claim 1, wherein the events include a newly discovered gene, a change in an end-user's medical status, a change in a clinical guideline, or a change in the composition of a gene panel. ### Claim 9 A system for providing genomic services, wherein the system comprises at least one processor configured to: receive a request from a user; apply the request to one or more from a group of a personalized data repository for the user and supporting knowledge bases, wherein the personalized data repository includes genetic test results, health/clinical information, and insurance coverage, and wherein the knowledge bases include information pertaining to genetic tests and clinical guidelines; integrate data from the applied request with results from service modules and perform one or more from a group of content search, variation interpretation, and report generation to produce results for the request; update the personalized data repository and supporting knowledge bases based on the results of the request; and trigger surveillance services based on one or more events. ### Claim 10 (depends on 9) The system of claim 9, wherein the request pertains to a multigene panel selection, and the at least one processor is further configured to: retrieve information for the multigene panel selection from the personalized data repository and supporting knowledge bases; determine gene composition for one of a basic panel and a multiple expansive panel based on the retrieved information; and perform services based on the determined panel including one or more from a group of: NGS sequencing and variant interpretation/clinical management, genetic screening/testing advice, gene panel updating, producing new guidelines, identifying new genes/variations, and identifying personal health status changes. ### Claim 11 (depends on 9) The system of claim 9, wherein the request comprises an environmental factor or a social factor, and the at least one processor is further configured to: apply the request to the personalized data repository, wherein the personalized data repository comprises the environmental factor or the social factor for each of a population of users; integrate data pertaining to the environmental factor or the social factor for each of the population of individuals from the applied request with the results from the service modules; and analyze the integrated data to determine whether the environmental factor or the social factor increases or decreases a prevalence of a disease in the population relative to a control population of individuals. ### Claim 12 (depends on 9) The system of claim 9, wherein the request comprises a genetic factor, and the at least one processor is further configured to: apply the request to the personalized data repository for a population of users and supporting knowledge bases, wherein the personalized data repository comprises the genetic factor for each of a population of individuals; integrate data pertaining to the genetic factor for each of the population of individuals from the applied request with the results from the service modules; and analyze the integrated data to determine whether the genetic factor increases or decreases a prevalence of a disease in the population relative to a control population of individuals. ### Claim 13 (depends on 9) The system of claim 9, wherein the at least one processor is further configured to: extract, using a service module configured to perform natural language processing and machine learning, person-centric data pertaining to the applied request from the personalized data repository and from the supporting knowledge bases; and consolidate the extracted data and include the consolidated data in the results for the request. ### Claim 14 (depends on 10) The system of claim 10, wherein the at least one processor is further configured to: determine the gene composition for the multiple expansive panel based on one or more factors selected from the group consisting of medical factors, financial factors, clinical guideline factors, and technical factors. ### Claim 15 (depends on 9) The system of claim 9, wherein the at least one processor is further configured to: send a notification to a user including the results of the surveillance request. ### Claim 16 (depends on 9) The system of claim 9, wherein the events include a newly discovered gene, a change in an end-user's medical status, a change in a clinical guideline, or a change in the composition of a gene panel. ### Claim 17 A computer program product for providing genomic services, the computer program product comprising a computer readable storage medium having program instructions embodied therewith, the program instructions executable by a computer to cause the computer to: receive a request from a user; apply the request to one or more from a group of a personalized data repository for the user and supporting knowledge bases, wherein the personalized data repository includes genetic test results, health/clinical information, and insurance coverage, and wherein the knowledge bases include information pertaining to genetic tests and clinical guidelines; integrate data from the applied request with results from service modules and perform one or more from a group of content search, variation interpretation, and report generation to produce results for the request; update the personalized data repository and supporting knowledge bases based on the results of the request; and trigger surveillance services based on one or more events. ### Claim 18 (depends on 17) The computer program product of claim 17, wherein the request pertains to a multigene panel selection, and the instructions are further executable by the computer to cause the computer to: retrieve information for the multigene panel selection from the personalized data repository and supporting knowledge bases; determine gene composition for one of a basic panel and a multiple expansive panel based on the retrieved information; and perform services based on the determined panel including one or more from a group of: NGS sequencing and variant interpretation/clinical management, genetic screening/testing advice, gene panel updating, producing new guidelines, identifying new genes/variations, and identifying personal health status changes. ### Claim 19 (depends on 17) The computer product of claim 17, wherein the request comprises an environmental factor or a social factor or a genetic factor, and the instructions are further executable by the computer to cause the computer to: apply the request to the personalized data repository, wherein the personalized data repository comprises the environmental factor or the social factor or the genetic factor for each of a population of users; integrate data pertaining to the environmental factor or the social factor or the genetic factor for each of the population of individuals from the applied request with the results from the service modules; and analyze the integrated data to determine whether the environmental factor or the social factor or the genetic factor increases or decreases a prevalence of a disease in the population relative to a control population of individuals. ### Claim 20 (depends on 17) The computer program product of claim 17, wherein the instructions are further executable by the computer to cause the computer to: send a notification to a user including the results of the surveillance request.