Genomic variant re-classification

Patent metadata

Field	Value
Publication number	US-12087400-B2
Application number	US-202017136966-A
Country	US
Kind code	B2
Filing date	Dec 29, 2020
Priority date	Dec 29, 2020
Publication date	Sep 10, 2024
Grant date	Sep 10, 2024

Abstract

A computing platform is provided to perform continuous monitoring of new genomic variants from external genomic databases and compare the new variants to genomic sequencing results for patients stored in long term cloud storage. The platform provides alerts to clinicians if a patient's genomic sequencing results match one or more of the new genomic variants.

First claim

The invention claimed is:

1. A method useful in a cloud environment for determining a patient has a newly discovered genomic variant, the method comprising:
receiving genomic sequencing results for a patient;
storing the genomic sequencing results for the patient in a cloud database, wherein genomic sequencing results include one or more gene variants that include an associated classification status;
receiving an initiation request to access the genomic sequencing results for the patient from the cloud database;
accessing and retrieving, via a network communication to a remote computing system, new genomic variants from a third party database, wherein one or more of the new genomic variants includes a classification status;
performing a variant comparison to compare the genomic sequencing results for the patient to the new genomic variants to determine whether a match is found with one or more of the new genomic variants;
identifying a change in classification status when the classification status of a matching new genomic variant is different from the associated classification status in the genomic sequencing results of the patient; and
generating an alert that identifies the change in classification status and transmitting the alert to a remote device for access by a clinician.

2. The method of claim 1 , further comprising:
automatically, using the processor, scheduling a follow-up appointment with the clinician for the patient.

3. The method of claim 1 , further comprising:
receiving an electronic medical order from a clinician for the patient for genomic sequencing.

4. The method of claim 3 , further comprising:
receiving the genomic sequencing results for the patient in response to the electronic medical order.

5. The method of claim 1 , wherein performing the variant comparison further comprising:
extracting variants from the genomic sequencing results for the patient; and
comparing the variants to the new genomic variants to determine if any variants match.

6. The method of claim 5 , wherein the genomic sequencing results for the patient are compared to known genomic variants.

7. The method of claim 6 , further comprising:
receiving input from the clinician that the patient is undiagnosed based on the genomic sequencing results.

8. The method of claim 1 , wherein the genomic sequencing results for the patient are stored in inactive cloud storage.

9. The method of claim 8 , wherein the initiation request to access the genomic sequencing results from inactive cloud storage is sent when pricing for computing power is below a pre-set threshold.

10. A system configured determining a patient has a newly discovered genomic variant, the system comprising:
one or more hardware processors configured by machine-readable instructions that when executed cause the processors to:
receive genomic sequencing results for a patient;
store the genomic sequencing results for the patient in a cloud database;
receive an initiation request to access the genomic sequencing results for the patient from the cloud database;
access and retrieve, via a network communication to a remote computing system, new genomic variants from a third-party database;
perform a variant comparison to compare the genomic sequencing results for the patient to the new genomic variants to determine whether a match is found with one or more of the new genomic variants; and
generate an alert that identifies the matching one or more new genomic variants and transmitting the alert to a remote device for access by a clinician.

11. The system of claim 10 , further configured to:
automatically schedule a follow-up appointment with the clinician for the patient.

12. The system of claim 10 , further configured to:
receive an electronic medical order from the clinician for the patient for genomic sequencing;
receive the genomic sequencing results for the patient in response to the electronic medical order; and
access known genomic variants from one or more third party database(s).

13. The system of claim 10 , wherein the machine-readable instructions for performing the variant comparison further comprise instructions for causing the one or more processors to:
extract variants from the genomic sequencing results for the patient; and
compare the variants to the new genomic variants to determine if any variants match.

14. The system of claim 10 , wherein the genomic sequencing results for the patient are stored in inactive cloud storage.

15. The system of claim 14 , wherein the initiation request to access the genomic sequencing results from inactive cloud storage is sent when pricing for computing power is below a pre-set threshold.

16. A non-transitory computer-readable storage medium having instructions embodied thereon, the instructions being executable by one or more processors and when executed cause the one or more processors to at least perform actions comprising:
receiving genomic sequencing results for a patient;
storing the genomic sequencing results for the patient in a cloud database;
receiving an initiation request to access the genomic sequencing results for the patient from the cloud database;
accessing and retrieving, via a network communication to a remote computing system, new genomic variants from a third party remote database;
performing a variant comparison by comparing the genomic sequencing results for the patient to the new genomic variants to determine whether a match is found with one or more of the new genomic variants; and
generating an alert that identifies the matching one or more new genomic variants and transmitting the alert to a remote device for access by a clinician.

17. The storage medium of claim 16 , further comprising executable instructions for:
automatically scheduling a follow-up appointment with the clinician for the patient.

18. The storage medium of claim 16 , further comprising executable instructions for:
receiving an electronic medical order from the clinician for the patient for genomic sequencing;
receiving the genomic sequencing results for the patient m response to the electronic medical order, wherein the genomic sequencing results for the patient is compared to known genomic variants;
accessing known genomic variants from one or more third party database(s); and
receiving input from the clinician that the patient is undiagnosed based on the genomic sequencing results.

19. The storage medium of claim 18 , wherein the instructions for performing the variant comparison further comprise instructions for causing the one or more processors to:
identify a change in classification status when the classification status of a matching new genomic variant is different from the associated classification status in the genomic sequencing results of the patient; and
generate an alert that identifies the change in classification status and transmit the alert to a remote device for access by one or more clinicians.

20. The storage medium of claim 16 , wherein the initiation request to access the genomic sequencing results from the cloud database is initiated when pricing for computing power associated with the cloud database is below a pre-set threshold.

Assignees

• Cerner Innovation Inc

Inventors

• Sitler Brad
• Smith Ayla
• Summar Marshall
• Berger Seth I

Classifications

• G16H10/60

  for patient-specific data, e.g. for electronic patient records · CPC title

• G06Q10/06312 Primary

  Adjustment or analysis of established resource schedule, e.g. resource or task levelling, or dynamic rescheduling · CPC title

• G16H40/20

  for the management or administration of healthcare resources or facilities, e.g. managing hospital staff or surgery rooms · CPC title

• G16H15/00

  ICT specially adapted for medical reports, e.g. generation or transmission thereof · CPC title

• G16H50/70

  for mining of medical data, e.g. analysing previous cases of other patients · CPC title