Computer-executable application that is configured to process cross-clinical genomics data

• US 10,431,331 B1
• Filed: 08/09/2016
• Issued: 10/01/2019
• Est. Priority Date: 02/28/2016
• Status: Active Grant

• Current Assignee: 2bprecise Technologies LLC
• Original Assignee: Allscripts Software LLC (Veradigm, Inc.)
• Inventors: Greenberg, Eyal, Ben Tal, Shiri, Halevy, Assaf, Diamond, Joel, Wartenfeld, Robert, Walp, Davis, Gehr, Jeri-lynn, Gartner, Gary
• Primary Examiner(s): Tiedeman, Jason S
• Application Number:
  US15/231,971
• Time in Patent Office: 1,148 Days
• Field of Search: 705 2, 705 3
• CPC Class Codes: G16B 20/00 ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
• CPC Class Codes: G16B 45/00 ICT specially adapted for bioinformatics-related data visualisation, e.g. displaying of maps or networks
• CPC Class Codes: G16H 10/60 for patient-specific data, e.g. for electronic patient records
• CPC Class Codes: G16H 40/63 for local operation
• CPC Class Codes: G16H 50/20 for computer-aided diagnosis, e.g. based on medical expert systems
• CPC Class Codes: G16H 50/30 for calculating health indices; for individual health risk assessment

Abstract

Described herein are various technologies pertaining an electronic health record application (EHR). The EHR has a rules engine that is configured to execute a plurality of rules corresponding to respective genetic disorders. The rules receive clinical data as input, and each rule is configured to output an indication as to whether or not a patient is a candidate for genetic testing for a genetic disorder.

Claims

1. A computing system comprising:

at least one processor; and

memory that has an application loaded therein, wherein the application, when executed by the at least one processor, is configured to perform acts comprising;

responsive to receipt of an identifier of a patient;

retrieving clinical data about the patient based upon the identifier of the patient, the clinical data being accessible by the application and identifies health problem of the patient;

applying a rule for a genetic disorder to the health problem identified in the clinical data;

determining using the rule that the patient is a candidate for genetic testing for the genetic disorder;

causing graphical data to be presented on a display of a computing device, the graphical data indicating to a clinician that the patient is a candidate for genetic testing for the genetic disorder;

based upon determining that the patient is a candidate for genetic testing for the genetic disorder, transmitting an order for a genetic test for the genetic disorder to a genetics lab computing device that is in network communication with the computing system;

receiving results for the genetic test from the genetics lab computing device; and

causing a visualization based upon the results to be presented on the display of the computing device, wherein the visualization is based on a relationship between;

a body system affected by the genetic disorder;

the genetic disorder; and

a genetic mutation associated with the genetic disorder, and further wherein the visualization comprises;

a first group of icons assigned to body systems of the patient, the body system that is affected by the genetic disorder is included in the body systems;

a second group of icons assigned to genetic disorders of the body systems, the genetic disorder is included in the genetic disorders; and

a third group of icons assigned to genetic mutations that cause the genetic disorders, the genetic mutation that is associated with the genetic disorder that is tested for in the genetic test is included in the genetic mutations,

wherein the relationship is indicated in the visualization by a visually perceptible connection between a first icon corresponding to the body system from the first group, a second icon corresponding to the genetic disorder from the second group, and a third icon corresponding to the genetic mutation from the third group, the relationship being between the body system, the genetic disorder, and the genetic mutation.

2. The computing system of claim 1, the acts further comprising:

subsequent to causing the graphical data to be presented on the display of the computing device, receiving an indication from the computing device that a genetic test is to be ordered for the patient, wherein transmitting the order occurs responsive to receiving the indication.

3. The computing system of claim 2, wherein the results for the genetic test are in a structured format the acts further comprising:

storing the results for the genetic test in a data repository in accordance with a predefined data model.

4. The computing system of claim 3, the acts further comprising:

subsequent to storing the results for the genetic test in the data repository in accordance with the predefined data model, receiving a request from the computing device to review the results for the genetic test, wherein causing the visualization to be presented on the display of the computing device occurs.

5. The computing system of claim 1, the application being an electronic health record application (EHR), and the clinical data comprises an electronic health record for the patient maintained by the EHR.

6. The computing system of claim 1, the application being a web application that is in communication with an EHR, wherein the web application receives the clinical data from the EHR.

7. The computing system of claim 1, wherein the first group of icons, the second group of icons, and the third group of icons are arranged in a first ring, a second ring, and a third ring, respectively, wherein the third ring is located within the second ring, wherein the second ring is located within the first ring.

8. A method executed by at least one computer processor of a computing system, the method comprising:

responsive to receipt of an identifier of a patient;

retrieving clinical data about the patient based upon the identifier of that identifies a health problem of the patient;

applying a rule for a genetic disorder to the health problem identified in the clinical data;

determining using the rule that the patient is a candidate for genetic testing for the genetic disorder;

causing graphical data to be presented on a display of a computing device, the graphical data indicating to a clinician that the patient is a candidate for genetic testing for the genetic disorder;

based upon determining that the patient is a candidate for genetic testing for the genetic disorder, transmitting an order for a genetic test for the genetic disorder to a genetics lab computing device that is in network communication with the computing system;

receiving results for the genetic test from the genetics lab computing device; and

causing a visualization based upon the results to be presented on the display of the computing device, wherein the visualization is based upon a relationship between;

a body system affected by the genetic disorder;

the genetic disorder; and

a genetic mutation associated with the genetic disorder, and further wherein the visualization comprises;

a first group of icons assigned to body systems of the patient, the body system that is affected by the genetic disorder is included in the body systems;

a second group of icons assigned to genetic disorders of the body systems the genetic disorder is included in the genetic disorders; and

a third group of icons assigned to genetic mutations that cause the genetic disorders, the genetic mutation tested for in the genetic test that is associated with the genetic disorder is included in the genetic mutations,

wherein the relationship is indicated in the visualization by a visually perceptible connection between a first icon corresponding to the body system from the first group, a second icon corresponding to the genetic disorder from the second group, and a third icon corresponding to the genetic mutation from the third group, the relationship being between the body system, the genetic disorder, and the genetic mutation.

9. The method of claim 8, further comprising:

subsequent to causing the graphical data to be presented on the display of the computing device, receiving an indication from the computing device that a genetic test is to be ordered for the patient, wherein transmitting the order occurs responsive to receiving the indication.

10. The method of claim 9, wherein the results for the genetic test are in a structured format, the method further comprising:

storing the results for the genetic test in a data repository in accordance with a predefined data model.

11. The method of claim 10, further comprising:

subsequent to storing the results for the genetic test in the data repository in accordance with the predefined data model, receiving a request from the computing device to review the results for the genetic test wherein causing the visualization to be presented on the display of the computing device occurs responsive to receiving the request.

12. The method of claim 8, the application being an electronic health record application (EHR), and the clinical data comprises an electronic health record for the patient maintained by the EHR.

13. The method of claim 8, the application being a web application that is in communication with an electronic health record application (EHR), wherein the web application receives the clinical data from the EHR.

14. The method of claim 8, wherein the first group of icons, the second group of icons, and the third group of icons are arranged in a first ring, a second ring, and a third ring, respectively, wherein the third ring is located within the second ring, wherein the second ring is located within the first ring.

15. A non-transitory computer-readable storage medium comprising instructions that, when executed by at least one processor of a computing system, cause the at least one processor to perform acts comprising:

responsive to receipt of an identifier of a patient;

retrieving clinical data about the patient based upon the identifier of the patient that identifies a health problem of the patient;

applying a rule for a genetic disorder to the clinical data;

determining, using the rule, that the patient is a candidate for genetic testing for the genetic disorder;

causing graphical data to be presented on a display of a computing device, the graphical data indicating to a clinician that the patient is a candidate for genetic testing for the genetic disorder;

based upon determining that the patient is a candidate for genetic testing for the genetic disorder, transmitting an order for a genetic test for the genetic disorder to a genetics lab computing device that is in network communication with the computing system;

receiving results for the genetic test from the genetics lab computing device; and

causing a visualization based upon the results to be presented on the display of the computing device, wherein the visualization is based upon a relationship between;

a body system affected by the genetic disorder;

the genetic disorder; and

a genetic mutation associated with the genetic disorder, and further wherein the visualization comprises;

a first group of icons assigned to body systems of the patient, the body system that is affected by the genetic disorder is included in the body systems;

a second group of icons assigned to genetic disorders of the body systems the genetic disorder is included in the genetic disorders; and

a third group of icons assigned to genetic mutations that cause the genetic disorders, the genetic mutation tested for in the genetic test that is associated with the genetic disorder is included in the genetic mutations,

wherein the relationship is indicated in the visualization by a visually perceptible connection between a first icon corresponding to the body system from the first group, a second icon corresponding to the genetic disorder from the second group, and a third icon corresponding to the genetic mutation from the third group, the relationship being between the body system, the genetic disorder, and the genetic mutation.

16. The non-transitory computer-readable storage medium of claim 15, the acts further comprising:

subsequent to causing the graphical data to be presented on the display of the computing device, receiving an indication from the computing device that a genetic test is to be ordered for the patient wherein transmitting the order occurs responsive to receiving the indication.

17. The non-transitory computer-readable storage medium of claim 16, wherein the results for the genetic test are in a structured format, the acts further comprising:

storing the results for the genetic test in a data repository in accordance with a predefined data model.

18. The non-transitory computer-readable storage medium of claim 17, the acts further comprising:

subsequent to storing the results for the genetic test in the data repository in accordance with the predefined data model, receiving a request from the computing device to review the results for the genetic test wherein causing the visualization to be presented on the display of the computing device occurs responsive to receiving the request.

19. The non-transitory computer-readable storage medium of claim 15, wherein the first group of icons, the second group of icons, and the third group of icons are arranged in a first ring, a second ring, and a third ring, respectively, wherein the third ring is located within the second ring, wherein the second ring is located within the first ring.

20. The non-transitory computer-readable storage medium of claim 15, the application being an electronic health record application (EHR), and the clinical data comprises an electronic health record for the patient maintained by the EHR.