Retroactive extraction of clinically relevant information from patient sequencing data for clinical decision support

A method for identifying clinically relevant molecular markers in a genome of a patient, operative in conjunction with:

• (1) a catalog of molecular marker tests each annotated with one or more clinical applicability annotations;
• and (2) an electronic patient medical record comprising stored genetic sequencing data of a patient, the method comprising:
• electronically tracking a clinical context of the patient using a clinical decision support (CDS) system, comprising receiving initial and updated clinical information about the patient, including at least a diagnosis and one or more clinical variables;
• during the electronic tracking, automatically detecting occurrence of a trigger event defined by a set of triggering rules, wherein the trigger event is a change in the clinical context of the patient;
• responsive to the detecting of a trigger event, automatically triggering an electronic search of the catalog of molecular marker tests to identify a molecular marker test having clinical applicability to the patient in the clinical context tracked by the CDS system;
• proposing, to a physician, the identified molecular marker test identified by said electronic search;
• receiving, from the physician a physician order to perform said proposed molecular marker test;
• validating said physician order prior to performing said proposed molecular marker test in silico using said genetic sequencing data of the patient;
• performing the identified molecular marker test in silico using the stored genetic sequencing data of the patient, to generate results of the identified molecular marker test;
• reporting the results of the identified molecular marker test to the physician;
• and
• storing the result of the identified molecular marker test in the electronic patient medical record.

A non-transitory storage medium storing instructions executable by an electronic processing device to perform a method of identifying clinically relevant molecular markers in a genome of a patient, operative in conjunction with a catalog of molecular marker tests specifying molecular marker tests annotated with clinical applicability annotations and stored genetic sequencing data of a patient, the method comprising:

• electronically tracking a clinical context of the patient using a clinical decision support (CDS) system, comprising receiving initial and updated clinical information about the patient, including at least a diagnosis and one or more clinical variables;
• during the electronic tracking, automatically detecting occurrence of a trigger event defined by a set of triggering rules, wherein the trigger event is a change in the clinical context of the patient;
• responsive to the detecting of a trigger event, automatically triggering an electronic search of the catalog of molecular marker tests to identify a molecular marker test having clinical applicability to the patient in the clinical context tracked by the CDS system;
• and
• proposing, to a physician, the molecular marker test identified by said electronic search;
• receiving, from the physician a physician order to perform said proposed molecular marker test;
• validating said physician order prior to performing said proposed molecular marker test in silico using said genetic sequencing data of the patient;
• performing the identified molecular marker test in silico using the stored genetic sequencing data of the patient, to generate results of the identified molecular marker test;
• reporting the results of the identified molecular marker test to the physician;
• and
• storing the results of the identified molecular marker test in an electronic patient medical record.