Computerized method and system for inferring genetic findings for a patient

• US 20050075794A1
• Filed: 01/02/2004
• Published: 04/07/2005
• Est. Priority Date: 10/16/2001
• Status: Active Grant

• Current Assignee: Cerner Innovation, Inc. (Oracle Corporation)
• Original Assignee: Cerner Innovation, Inc. (Oracle Corporation)
• Inventors: Hoffman, Mark A., McCallie, David P. Jr.
• Granted Patent: US 7,983,848 B2
• Time in Patent Office: Days
• US Class Current: 702/20
• CPC Class Codes: G16B 20/00 ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
• CPC Class Codes: G16B 20/20 Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
• CPC Class Codes: G16B 20/40 Population genetics; Linkage disequilibrium
• CPC Class Codes: G16B 50/00 ICT programming tools or database systems specially adapted for bioinformatics
• CPC Class Codes: G16B 50/30 Data warehousing; Computing architectures
• CPC Class Codes: G16H 10/60 for patient-specific data, e.g. for electronic patient records
• CPC Class Codes: G16H 50/20 for computer-aided diagnosis, e.g. based on medical expert systems
• CPC Class Codes: G16H 50/70 for mining of medical data, e.g. analysing previous cases of other patients
• CPC Class Codes: Y10S 128/923 by comparison of patient data to other data

Abstract

A method and system in a computing environment for inferring genetic findings for a patient is provided. The method includes receiving a request for genetic findings for a person from another application or a user. The method further includes inquiring as to whether the person has the genetic findings. If not, the method automatically provides inferred genetic findings for the person. The inferred genetic findings are calculated using genetic findings for family members of the patient, linkage analysis, haplotype analysis, semantic test results for the person and/or population genetics information.

Claims

1. A method in a healthcare information technology system for inferring genetic findings for a person, the method comprising:

receiving a request for genetic findings for a person;

in response to the request, determining if the person has actual genetic findings, and

if the person does not have actual genetic findings, automatically providing inferred genetic findings for the person.

2. The method of claim 1, wherein the step of determining if the person has stored genetic findings comprises searching the electronic medical record for the person.

3. The method of claim 1, wherein the request is initiated by a decision support rule.

4. The method of claim 1, further comprising:

obtaining the traversal pattern for the genetic findings requested.

5. The method of claim 4, further comprising:

inquiring whether at least one family member of the person within the traversal pattern has the genetic findings.

6. The method of claim 5, further comprising:

utilizing the genetic findings for the one or more family members to provide an inferred genetic finding for the person.

7. The method of claim 6, wherein the genetic findings for the one or more family members are obtained from an electronic medical record for each family member stored within a comprehensive healthcare system.

8. The method claim 1, further comprising:

obtaining cytogenetic observations for the person.

9. The method of claim 8, further comprising:

utilizing the cytogenetic observations to provide the inferred genetic findings for the person.

10. The method of claim 1, further comprising:

obtaining demographic information for the person.

11. The method of claim 10, further comprising:

utilizing the demographic information for the person to provide the inferred genetic findings for the person.

12. The method of claim 1, further comprising:

obtaining genetic marker information for the person.

13. The method of claim 12, further comprising:

utilizing the genetic marker information for the person to provide inferred genetic findings for the person.

14. The method of claim 1, wherein the system communicates the inferred results to a user.

15. The method of claim 12, further comprising:

obtaining the traversal pattern for the genetic findings requested; and

inquiring whether at least one family member of the person within the traversal pattern has the genetic findings and any genetic markers.

16. The method of claim 15, further comprising:

utilizing the genetic marker information for the person, the genetic findings for the one or more family members and the genetic markers for the one or more family members to provide inferred genetic findings for the person.

17. A method in a computer system for inferring genetic findings for a person, the method comprising:

receiving a request for actual genetic findings for one or more genes for a person;

determining if the person has stored genetic findings, and

if the person does not stored genetic findings, automatically providing inferred genetic findings for the person.

18. The method of claim 17, wherein the step of determining if the person has stored genetic findings comprises searching the electronic medical record for the person.

19. The method of claim 17, wherein the request for actual genetic findings is from a user.

20. The method of claim 17, further comprising:

obtaining the traversal pattern for the genetic findings requested.

21. The method of claim 20, further comprising:

inquiring whether at least one family member of the person within the traversal pattern has the genetic findings.

22. The method of claim 21, further comprising:

utilizing the genetic findings for the one or more family members to provide an inferred genetic finding for the person.

23. The method of claim 22, wherein the genetic findings for the one or more family members are obtained from an electronic medical record for each family member stored within a comprehensive healthcare system.

24. The method claim 17, further comprising:

obtaining cytogenetic observations for the person.

25. The method of claim 24, further comprising:

utilizing the cytogenetic observations to provide the inferred genetic findings for the person.

26. The method of claim 17, further comprising:

obtaining demographic information for the person.

27. The method of claim 26, further comprising:

utilizing the demographic information for the person to provide the inferred genetic findings for the person.

28. The method of claim 17, further comprising:

obtaining genetic marker information for the person.

29. The method of claim 28, further comprising:

utilizing the genetic marker information for the person to provide inferred genetic findings for the person.

30. The method of claim 28, further comprising:

obtaining the traversal pattern for the genetic findings requested and

inquiring whether at least one family member of the person within the traversal pattern has the genetic findings and genetic markers.

31. The method of claim 30, further comprising:

utilizing the genetic marker information for the person, the genetic findings for the one or more family members and the genetic markers for the one or more family members to provide inferred genetic findings for the person.