Methods for identifying human hereditary disease patterns

Claim 1

A method for determining the existence of a hereditary disease risk in a patient, comprising the steps of: assembling a computer a database made up of a plurality of records each pertaining to an individual and containing a history of at least one specific disease in a family of that individual, said history including a plurality of parameters relating to each family member identified in said history; defining a plurality of functions each pertaining to said parameters and assigning predetermined weights to said functions based on values of said parameters; for each record in said database, summing the weights obtained for each of said functions to obtain a total value for each of said functions, identifying said record as presenting a hereditary pattern if the total value is above a predetermined threshold, and grouping said identified record into a subset of records; for each record in said database, applying expert knowledge generated rules to independently identify records as presenting hereditary patterns; comparing said independently identified records with said subset of records, and validating defined functions if a predetermined minimum percentage of records in said subset are consistent with said independently identified records; and using and displaying said validated functions as a recognizer of hereditary disease patterns in a family history of said patient.

Claim 2

A method for determining the existence of a hereditary disease risk in a patient, comprising the steps of: assembling a computer a database made up of a plurality of records each pertaining to an individual and containing a history of at least one specific disease in a family of that individual, said history including a plurality of parameters relating to each family member identified in said history; defining a plurality of functions each pertaining to said parameters and assigning predetermined weights to said functions based on values of said parameters; for each record in said database, summing the weights obtained for each of said functions to obtain a total value for each of said functions, identifying said record as presenting a hereditary pattern if the total value is above a predetermined threshold, and grouping said identified record into a subset of records; for each record in said database, applying expert knowledge generated rules to independently identify records as presenting hereditary patterns; comparing said independently identified records with said subset of records, and validating defined functions if a predetermined minimum percentage of records in said subset are consistent with said independently identified records; and using and displaying said validated functions as a recognizer of hereditary disease patterns in a family history of said patient.