Computerized method and system for inferring genetic findings for a patient
AssigneeCerner Innovation, Inc.
InventorsMARK A. HOFFMAN, DAVID P. MCCALLIE, JR.
Life of this patent
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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.
Claims20
A method in a healthcare information technology system for providing inferred genetic findings for a person, the method comprising:
- receiving a request issued by a user for genetic test results for a subject gene for a person;
- incident to receiving the request, accessing a first data store to discover whether there exists the genetic test results for the person;
- and
- when the genetic test results of the person are undiscovered, automatically inferring one or more genetic findings, wherein the process of inferring comprises:
- (a) identifying a mode of inheritance associated with the subject gene;
- (b) determining a traversal pattern of the subject gene within a family of the person as a function of the identified mode of inheritance;
- (c) employing the traversal pattern to target at least one member of the family of the person that potentially carries the subject gene;
- (d) accessing a second data store to discover whether there exists genetic test results for the at least one targeted member of the person's family;
- and
- (e) when the genetic test results of the at least one targeted member of the person's family are discovered, calculating a probability that the person exhibits a mutated form of the subject gene using the genetic test results of the at least one targeted member of the person's family.
A method in a computer system for inferring genetic findings for a patient, the method comprising:
- recognizing a gene as being pertinent to a clinical agent or a clinical event being considered for the patient;
- attempting to locate actual genetic findings, for the recognized gene, previously taken for the patient;
- when unable to locate the actual genetic findings of the patient, automatically determining inferred genetic findings for the patient, wherein the process of determining comprises:
- (a) using genetic inheritance principles to identify one or more family members of the patient that potentially carry the recognized gene;
- and
- (b) attempting to locate actual genetic findings, for the recognized gene, previously taken for the one or more identified family members;
- and informing a clinician of the inferred genetic findings.
One or more computer readable media, residing on computer executable instructions that, when executed by a processing unit, perform a method for using a linkage analysis to derive inferred genetic test results, wherein the method comprises:
- detecting a request for genetic test results gathered for a particular gene;
- upon failing to find the gathered genetic test results, inferring genetic test results for the particular gene by carrying out a linkage analysis, wherein the linkage analysis comprises:
- (a) using a genetic map to identify a candidate gene that is located within physical proximity to the particular gene, wherein the physically proximate locations of the candidate gene and the particular gene indicate that the genes are co-inherited;
- and
- (b) attempting to gather genetic test results for the candidate gene;
- and
- initiating a communication that informs a user of the inferred genetic test results.
Dependencies are inferred from the claim text.