System and method for selectively classifying a population

Abstract

A technique is disclosed for classifying a population of subjects into various sub-populations for a selected biological condition. Patients are categorized in accordance with numeric scores for a affected status for the selected biological condition and a risk status for the selected biological condition. The numeric scores for an overall population are determined in advance for the selected biological condition. Medical test results, including genetic tests, and risk factors are numerically scored and may further be weighted in accordance with their relevance in determining affected status and risk. Medical test results and medical histories for individual subjects within the population may then automatically be scored in accordance with the predefined characteristics. The numerical scores for affected status and risk status may be stored in a data structure, such as a database. The numeric scores are extracted from the data structure and used to classify individuals in the population into one of a group of selected sub-populations comprising at-risk affected (ARA) and at-risk unaffected (ARU). Additional sub-populations, such as unknown risk, unaffected (URU) may also be used.

1 - 19 . (canceled) 
     
     
         20 . A computer-implemented method of data analysis to identify a target for use in treating a disease, comprising:
 defining disease characteristics of the disease, including medical tests associated with the disease;   performing a computer analysis of medical test results based on medical tests performed on biological samples from a plurality of subjects with respect to the defined characteristics of the disease;   based on the analysis, determining an affected status of each of the plurality of subjects;   defining risk characteristics of the disease;   based on the risk characteristics, determining a risk status of each of the plurality of subjects;   based on the affected status and the risk status, classifying each of the plurality of subjects into a predetermined category for the disease selected from a group comprising at risk, affected (ARA), whose members have ever been affected by the disease, and at risk, unaffected (ARU), whose members remain unaffected by the disease and whose unaffected status is inconsistent with the risk status;   performing genetic tests on the plurality of subjects in a panel of candidate genes suspected to be relevant to the disease;   identifying functional variants in at least one of the candidate genes in the plurality of subjects;   analyzing the genetic test results of the group of subjects classified as ARU with the genetic test results of the group of subjects classified as ARA to identify one or more statistically significant functional variants where the allele frequency is statistically larger in the group of subjects classified as ARU as compared to the allele frequency in the group of subjects classified as ARA;   thereby identifying each candidate gene containing one of the said statistically significant functional variants as a drug target for use in treating the disease;   and displaying each of the identified target candidate genes to a user.   
     
     
         21 . The method of  claim 20  wherein the defined disease characteristics of the disease have associated numerical scores and determining the affected status of each of the plurality of subjects comprises determining numerical scores based on the analysis of the medical test results. 
     
     
         22 . The method of  claim 20  wherein the defined risk characteristics of the disease have associated numerical scores and determining the risk status of each of the plurality of subjects comprises determining numerical scores. 
     
     
         23 . The method of  claim 20  wherein the defined disease characteristics of the disease have associated numerical scores and the defined risk characteristics of the disease have associated numerical scores, the classification of each of the plurality of subjects into a predetermined category being based on the numerical scores for affected status and risk status. 
     
     
         24 . The method of  claim 23  wherein the numerical scores for affected status and risk status are combined to form a combined numerical score, the classification of each of the plurality of subjects into a predetermined category being based on the combined numerical scores for affected status and risk status. 
     
     
         25 . The method of  claim 20  wherein the medical tests associated with the disease have varying degrees of relevance in defining the disease characteristics, the method further comprising assigning relevance weighting factors to the medical tests based on the degree of relevance, the affected status being based on the weighted medical tests. 
     
     
         26 . The method of  claim 20 , further comprising generating statistical data related to the affected status and risk status wherein classifying each of the plurality of subjects into a predetermined category comprises analyzing the statistical data. 
     
     
         27 . (canceled) 
     
     
         28 . The method of  claim 20  wherein risk status is determined at least in part from medical histories of the plurality of subjects, the method further comprising comparing the medical histories and the medical test results of the group of subjects classified as ARU with the medical histories and the medical test results of the group of subjects classified as ARA. 
     
     
         29 - 46 . (canceled) 
     
     
         47 . A computer-implemented method for the classification of a population for evaluation of a disease, comprising:
 defining risk characteristics associated with the disease;   storing data associated with the defined risk characteristics;   defining affected status indicators for the disease;   storing data associated with the defined affected status indicators;   using the stored data to classify a study population based on the defined risk characteristics and the defined affected status indicators to thereby classify individual ones of the subjects in the study population as at risk and affected (ARA) by the disease, the ARA individuals having a risk status indicating the expectation that the individuals are at significant risk for having the disease at the present time, and an affected status indicating that the ARA individuals are presently affected by the disease, and to classify individual ones of the subjects in the study population as at risk and unaffected (ARU) by the disease, the ARU individuals having a risk status indicating the expectation that the individuals are at significant risk for having the disease at the present time, and an affected status indicating that the ARA individuals are presently not affected by the disease.   
     
     
         48 . A computer-implemented method for the classification of a population for evaluation of a disease, comprising:
 selecting a study population to be classified into a subpopulations selected from a group of subpopulations comprising:
 at risk and affected (ARA), whose members have a risk status indicating the expectation that the members are at significant risk for having the disease at the present time, and an affected status indicating that the members of the ARA subpopulation are presently affected by the disease; 
 at risk and unaffected (ARU) by the disease, whose members have a risk status indicating the expectation that the members are at significant risk for having the disease at the present time, and an affected status indicating that the ARU individuals are presently not affected by the disease, and 
 unknown risk and unaffected (URU) by the disease, whose members have an indeterminate risk status for having the disease at the present time, and an affected status indicating that the URU individuals are presently not affected by the disease; 
 the size of the study population being selected so that the number of potential ARU members provides 95% confidence to detect alleles represented at at least 1% frequency in the ARU sub-population; and 
 based on computer analysis of the data related to the medical histories and the data related to the medical test results, classifying the study population into the ARA, ARU or URU sub-populations to permit evaluation of the disease by analyzing at least two of the subpopulations. 
   
     
     
         49 . The method of  claim 48 , further comprising:
 performing a computer analysis of genetic data from the ARA sub-population and the ARU sub-population to identify genetic variations therebetween; and   using data related to the identified genetic variations between the ARA sub-population and the ARU sub-population to identify a drug target associated with the disease.   
     
     
         50 . A method for the classification of a population for evaluation of a disease, comprising:
 defining risk characteristics associated with the disease;   defining affected status indicators for the disease;   classifying a study population based on the defined risk characteristics and the defined affected status indicators to thereby classify individual ones of the subjects in the study population as at risk and affected (ARA) by the disease, the ARA individuals having a risk status indicating the expectation that the individuals are at significant risk for having the disease at the present time, and an affected status indicating that the ARA individuals are presently affected by the disease, and to classify individual ones of the subjects in the study population as at risk and unaffected (ARU) by the disease, the ARU individuals having a risk status indicating the expectation that the individuals are at significant risk for having the disease at the present time, and an affected status indicating that the ARU individuals are presently not affected by the disease, the size of the study population being selected so that the number of potential ARU members provides 95% confidence to detect alleles represented at at least 1% frequency in the ARU sub-population.   
     
     
         51 . A computer-implemented method for the classification of a population for evaluation of a disease, comprising:
 defining risk characteristics associated with the disease;   storing data associated with the defined risk characteristics;   defining affected status indicators for the disease;   storing data associated with the defined affected status indicators;   using the stored data to classify a study population based on the defined risk characteristics and the defined affected status indicators to thereby classify individual ones of the subjects in the study population as at risk and affected (ARA) by the disease, the ARA individuals having a risk status indicating that the individuals are expected to be affected by the disease at the present time, and an affected status indicating that the ARA individuals are presently affected by the disease, and to classify individual ones of the subjects in the study population as at risk and unaffected (ARU) by the disease, the ARU individuals having a risk status indicating that the individuals are expected to be affected by the disease at the present time, and an affected status indicating that the ARU individuals are presently not affected by the disease.   
     
     
         52 . A computer-implemented method for the identification of a population phenotypically unaffected by a disease, comprising:
 defining risk characteristics associated with the disease;   storing data associated with the defined risk characteristics;   defining affected status indicators for the disease;   storing data associated with the defined affected status indicators;   using the stored data to identify individuals as phenotypically affected by the disease and to identify individuals as phenotypically unaffected by the disease despite a risk status consistent with risk status associated with individuals identified as phenotypically affected by the disease.