Systems and methods for obtaining and managing sequencing data
View Patent ↗Systems and methods for biological sample processing are described. A production line extracts genomic DNA from a biological sample, amplifies target components of the sample and produces sequence data for markers from the amplified components. The markers are associated with tests identified in a requisition received with the sample and some markers may be associated with unrequisitioned tests. A sample information management system (SIMS) controls and monitors the production line and subsequent analysis of the results using information in a quality control (QC) database to validate the results. A repository comprising the QC database and a research database receives and aggregates the results without identifying the source of the sample. A portal may be provided to provide access to the research database to a plurality of external contributors. Contributors can selectively provide additional research data and data can be processed using data mining and curation tools.
1. A method for analyzing diagnostic information, comprising:
extracting genomic DNA from a sample from a subject,
obtaining sequence data for a plurality of markers, the plurality of markers including a first set of markers which are associated with one or more tests identified in a first requisition corresponding to the sample, the first requisition being solicited by a healthcare requestor, and a second set of markers comprising any portion of all currently available marker not directly associated with the first requisition, wherein the first requisition includes a request to receive future notifications of health information associated with the sequence data;
generating a response to the first requisition, the response being based upon an analysis of sequence data corresponding to the first set of markers and the one or more tests with the generation of the response excluding analysis of the second set of markers with respect to tests other than the one or more tests;
assigning an identifier to the sequence data, the identifier identifying the sample, the requisition and information related to the analysis;
storing the sequence data in a repository of data, the repository comprising one or more databases for baseline, diagnostic and statistical data for analyzing the sequence data and wherein the one ore more databases comprises at least one internal database in which the sequence data from the sample is stored;
after generating the response, generating a notification of health information based upon an analysis of sequence data based on (1) a change to a prediction in the response to the first requisition, (2) one or more tests which were not available for requisition at the time of the first requisition, or (3) at least a portion of the second set of markers, wherein the health information which is the subject of the notification comprises health information which is different from the health information in the response;
and generating such health information after consent for its generation is received.
2. The method of claim 1 wherein the health information which is the subject of the notification concerns a change to a prediction in the response where such change arises due to a change in the content of the repository.
3. The method of claim 1 wherein the health information which is the subject of the notification concerns one or more tests which were not available for requisition at the time of the first requisition.
4. The method of claim 3 wherein the health information which is the subject of the notification is generated with reference to sequence data corresponding to at least one marker of the second set of markers.
5. The method of claim 1 wherein the consent for generating the notification of health information is provided with the first requisition.