SYSTEMS AND METHODS FOR DISEASE KNOWLEDGE MODELING

• US 20130268290A1
• Filed: 03/14/2013
• Published: 10/10/2013
• Est. Priority Date: 04/02/2012
• Status: Abandoned Application

• Current Assignee: Molecular Health GmbH (Molecular Health AG)
• Original Assignee: David Jackson
• Inventors: Brock, Stephan, JACKSON, DAVID, Zien, Alexander
• Application Number:
  US13/828,862
• Publication Number:
  US 20130268290A1
• Time in Patent Office: Days
• US Class Current: 705/2
• CPC Class Codes: G16B 20/00 ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
• CPC Class Codes: G16B 20/10 Ploidy or copy number detection
• CPC Class Codes: G16B 20/20 Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
• CPC Class Codes: G16B 50/00 ICT programming tools or database systems specially adapted for bioinformatics
• CPC Class Codes: G16B 50/10 Ontologies; Annotations
• CPC Class Codes: G16H 20/10 relating to drugs or medications, e.g. for ensuring correct administration to patients
• CPC Class Codes: G16H 50/20 for computer-aided diagnosis, e.g. based on medical expert systems
• CPC Class Codes: G16H 50/50 for simulation or modelling of medical disorders
• CPC Class Codes: G16H 70/60 relating to pathologies

Abstract

Systems and methods are described herein for disease knowledge modeling and clinical treatment decision support, and the prioritization of possible treatment options based on tumor or other disease biomarkers. Disease or indication information, including identification of biomolecular entities associated with the indication may be culled through text data mining to create a knowledge model of the indication. In some embodiments, the knowledge model may comprise a network of associations between molecular entities, including such drug targets and biomakers, genes, pathways. The model may be combined with patient-specific variant information and historical treatment records to identify and prioritize treatment decisions and allow for the prediction of disease drivers and provide treatment options tailored to a patient'"'"'s genetic data.

Claims

1-45. -45. (canceled)

46. A method for prioritizing treatment decisions, comprising:

retrieving, by an analyzer executed by a processor of a computing device, an identification of a patient indication;

identifying, by the analyzer, a plurality of proteins or genes associated with the patient indication, and at least one genetic variant associated with the patient indication;

selecting, by the analyzer, a subset of the plurality of proteins or genes responsive to an identified functional impact of the genetic variant on the protein or gene associated with the patient identification;

generating, by the analyzer, an indication-specific molecular entity network based on the selected subset of the plurality of proteins or genes;

retrieving, by the analyzer from a medication information database, an identification of a plurality of medications having one or more targets in the indication-specific molecular entity network; and

generating, by the analyzer, a prioritized list of suggested treatments, each comprising one or more of the plurality of medications, wherein the priority of a suggested treatment depends on a number of targets in the indication-specific molecular entity network affected by the one or more medications of the suggested treatment.

47. The method of claim 46, wherein identifying a plurality of proteins or genes associated with the patient indication comprises searching a literature database for identifications of a protein or gene having a co-occurrence frequency with identifications of the patient indication greater than a first threshold.

48. The method of claim 46, wherein identifying at least one genetic variant associated with the patient indication comprises searching a literature database for identifications of a genetic variant having a co-occurrence frequency with identifications of the patient indication greater than a second threshold.

49. The method of claim 46, wherein selecting a subset of the plurality of proteins or genes further comprises identifying activation or repression of a gene or amplification or deletion of a protein by the genetic variant, and selecting said protein or gene for inclusion in the indication-specific molecular entity network responsive to the identification.

50. The method of claim 49, wherein identifying activation or repression of a gene or amplification or deletion of a protein by the genetic variant comprises searching a literature database for identifications of the protein or gene having a co-occurrence frequency with identifications of the genetic variant and identifications of activation, repression, amplification, or deletion.

51. The method of claim 46, wherein generating an indication-specific molecular entity network comprises extracting a subgraph from a global molecular entity graph, the subgraph comprising the selected subset of the plurality of proteins or genes.

52. The method of claim 46, wherein the priority of a suggested treatment is further based on a stage of development of a medication of the suggested treatment.

53. The method of claim 46, wherein the priority of a suggested treatment is proportional to the number of targets in the indication-specific molecular entity network affected by the one or more medications of the suggested treatment.

54. The method of claim 46, wherein the priority of a suggested treatment is dependent on a number of medications of the suggested treatment.

55. The method of claim 54, wherein the priority of a suggested treatment is inversely proportional to the number of medications of the suggested treatment.

56. A system for prioritizing treatment decisions, comprising:

a computing device comprising a processor and a memory, the processor executing an analyzer configured for;

retrieving an identification of a patient indication;

identifying a plurality of proteins or genes associated with the patient indication, and at least one genetic variant associated with the patient indication;

selecting a subset of the plurality of proteins or genes responsive to an identified functional impact of the genetic variant on the protein or gene associated with the patient identification;

generating an indication-specific molecular entity network based on the selected subset of the plurality of proteins or genes;

retrieving, from a medication information database, an identification of a plurality of medications having one or more targets in the indication-specific molecular entity network; and

generating a prioritized list of suggested treatments, each comprising one or more of the plurality of medications, wherein the priority of a suggested treatment is dependent on a number of targets in the indication-specific molecular entity network affected by the one or more medications of the suggested treatment.

57. The system of claim 56, wherein the analyzer is further configured for searching a literature database for identifications of a protein or gene having a co-occurrence frequency with identifications of the patient indication greater than a first threshold.

58. The system of claim 56, wherein the analyzer is further configured for searching a literature database for identifications of a genetic variant having a co-occurrence frequency with identifications of the patient indication greater than a second threshold.

59. The system of claim 56, wherein the analyzer is further configured for identifying activation or repression of a gene or amplification or deletion of a protein by the genetic variant, and selecting said protein or gene for inclusion in the indication-specific molecular entity network responsive to the identification.

60. The system of claim 59, wherein the analyzer is further configured for searching a literature database for identifications of the protein or gene having a co-occurrence frequency with identifications of the genetic variant and identifications of activation, repression, amplification, or deletion.

61. The system of claim 56, wherein the analyzer is further configured for extracting a subgraph from a global molecular entity graph, the subgraph comprising the selected subset of the plurality of proteins or genes.

62. The system of claim 56, wherein the priority of a suggested treatment is further based on a stage of development of a medication of the suggested treatment.

63. The system of claim 56, wherein the priority of a suggested treatment is dependent on the number of medications of the suggested treatment.

91. The system of claim 63, wherein the priority of a suggested treatment is inversely proportional to the number of medications of the suggested treatment.

92. The system of claim 56, wherein the priority of a suggested treatment is proportional to the number of targets in the indication-specific molecular entity network affected by the one or more medications of the suggested treatment.

64-90. -90. (canceled)