SYSTEMS AND METHODS FOR MEDICAL GENETIC TESTING

摘要

A genetic analysis system that provides a notification of new medical information that is non-trivial and significant to the results of a patient's prior genetic test. The system retrieves clinical information from an outside database and also evaluates whether subsequent updates to that database are significant to the patient. If significant, the system provides a notification of the availability of new clinical information. Methods of the invention includes obtaining sequence data for a patient, retrieving from a database clinical information on a variant in the sequence data, and associating the clinical information with the variant in the memory subsystem. The method further includes determining whether an update to the clinical information has been published, evaluating significance of the update, and notifying a user of updated clinical information when significant.