EXPERT SYSTEM FOR DIAGNOSING GENETIC DISORDERS

Abstract

Background. Expert systems are a class of computer programs that offer advice, analyze, classify, advise, and diagnose.

After studying and analyzing the problems of the field of genetics, we decided to develop an expert system, which with the help of the available knowledge base will be able to determine and clarify the diagnosis, provide advice and, if necessary, appoint additional examinations.

The purpose of this work is to develop a computer software «Expert system for diagnosing genetic disorders».

Materials and methods. The research material is the work of a geneticist who diagnoses and prescribes treatment to patients, maintains medical records.

Results. The result of the research of the work of employees of the department of medical genetics of Children's Hospital and the analysis of the specifics of the implementation of medical expert systems is an expert system that optimizes the work of department staff.

The software product «Expert system for diagnosing genetic disorders» is installed on any number of computers in the department.

The system implements the following functions:

- work in two modes: the mode of knowledge acquisition and the mode of consultation;

- establishing the correspondence of symptoms, further treatment and diagnoses in the mode of acquiring knowledge;

- diagnosis of the patient when choosing symptoms from a list;

- providing referrals for clinical trials to clarify the diagnosis;

- providing a treatment protocol for the diagnosis;

- registration of patients and results of inspections depending on the established diagnosis;

- dynamic management of the presence of the required diagnosis;

- formation of reporting for the specified periods with the ability to view and print information on certain indicators;

- visualization of the results of statistical analysis using diagrams of different types.

Conclusions. The main result of the work is a system that optimizes the work of doctors and staff of the department of medical genetics of Children's Hospital.