Research On Precision Medicine Knowledge Base And Application Technology For Clinical Genetic Testing Report

The incidence of rare diseases is low,but it can affect a large number of population and rare diseases are difficult to diagnose and treat,which seriously harms the patient’s health and causes severe economic burden on the patient’s family and society at the same time.With the development of next-generation sequencing technology,genetic testing has been widely used to detect rare genetic diseases.However,there are limitations in the traditional clinical genetic testing report process.On the one hand,the source of genetic disease knowledge is scattered,so it is extremely hard to obtain genetic disease knowledge quickly and accurately;on the other hand,the current sequencing data storage method can’t achieve the efficient retrieval,screening and statistical utilization of cross-patient variation information under a large number of patients;on the other hand,genetic diseases are difficult to diagnose and the traditional way lacks candidate disease recommendation services to assist in the decision-making of genetic diseases diagnosis;in addition,the workflow lacks systematic management.These limitations seriously degrade the performance of traditional clinical genetic testing report so that it can’t meet the clinical needs at this stage.Therefore,it is urgent to carry out targeted application research on the above key issues,and construct a clinical genetic testing report system to assist in clinical genetic testing report work.The specific research contents of this paper include:(1)Construction of precision medical knowledge base for clinical genetic testing reports.Based on the authoritative guidelines for the interpretation of sequence variants,combined with clinical genetic testing report’s requirements,12 kinds of genetic disease databases are integrated.Based on the standardization and structured storage of original data,15 database tables and their usage rules are designed according to the needs of various clinical scenarios.Then use the original knowledge to generate genetic disease knowledge networks.The precision medical knowledge base is designed and constructed to guide the interpretation of clinical sequence variants,and providing evidence support for the development of personalized treatment plans.(2)Research on key technologies for clinical genetic testing reports.Aiming at the problem of storage and use of sequencing data in the clinical genetic testing report process,this paper designs a multi-level clinical sequencing data storage method based on two-way fast indexing to solve the storage and utilization of large-scale patients’sequencing data,and to provide diversified services for different clinical scenarios.Compared with the traditional method,this method can still maintain high efficiency and fast cross patient retrieval,screening,and statistical ability in large-scale patients.Aiming at the problem that genetic diseases are difficult to diagnose in the traditional genetic testing report process,this paper proposes a similar disease recommendation method based on phenotypic network to recommend possible genetic diseases,using the patient’s clinical phenotypic information to assist clinicians in quickly determining pathogenic genes and genetic diseases.Compared with other methods,this method is more accurate in the recommendation of candidate diseases in clinical scenarios.(3)The design and construction of a clinical genetic testing report system.Based on the above-mentioned precision medical knowledge base and key application technologies,combined with the clinical genetic testing report practice requirements,a clinical genetic testing report system was designed and constructed.The reporting system provides systematic management for the workflow,and assist in the whole clinical genetic testing report work.In this paper,we construct a precision medical knowledge base and propose two key application technologies for clinical genetic testing report,which solves the key problems in the traditional clinical genetic testing report process.On this basis,a genetic testing reporting system for clinical use was constructed,which has great significance in improving clinician reporting efficiency,reducing work costs,and assisting clinicians in the diagnosis of genetic diseases and so on.