An Internet-based auxiliary diagnosis system for rare diseases and its application method

Abstract

The invention discloses an Internet-based rare disease auxiliary diagnosis system and its use method. The system includes an AI engine, a database connected to the AI ​​engine, an account management unit, a phenotype diagnosis unit, a progress notification unit, a gene diagnosis unit and information The inquiry unit, and the submission management unit connected with the gene diagnosis unit. The invention is deployed on the cloud, and users can use PCs and mobile phones to use it anytime and anywhere through the Internet, so that the cooperation between doctors and third-party genetic testing companies is no longer limited to one-off reports, making the cooperation between the two more efficient and improving the diagnosis rate. Patients with rare diseases no longer need to travel around to seek medical treatment, which greatly shortens the diagnosis time of rare diseases, wins the best opportunity for treatment for patients, and also reduces the economic and mental burden of patients' families.

Description

technical field [0001] The invention relates to an auxiliary disease diagnosis system, in particular to an Internet-based auxiliary diagnosis system for rare diseases and a method for using it. Background technique [0002] Rare diseases refer to those diseases with extremely low incidence. According to the definition of the World Health Organization, rare diseases refer to those diseases whose prevalence accounts for 0.65‰~1‰ of the total population. Although the incidence of rare diseases is not high, China is a country with a large population. With a huge population base, the number of people suffering from rare diseases is not small. According to preliminary statistics, the total number of people in this group reaches tens of millions. For rare diseases, it is often necessary to combine phenotypic and genetic data for diagnosis and formulate corresponding treatment plans. In the previous rare disease diagnosis process, hospitals often needed to provide part of the patie...

AI Technical Summary

Problems solved by technology

In the previous rare disease diagnosis process, hospitals often needed to provide part of the patient’s diagnosis records and genetic samples to a third-party genetic testing company for analysis and diagnosis. Various questions arise in the report, such as incorrect or incomplete phenotypes collated by third-party companies from diagnostic records, insufficient matching of disease-causing genes and phenotypes observed by doctors, etc.

It is necessary to communicate with the third-party testing company again, resulting in a waste of manpower and material resources, and prolonging the diagnosis time of patients

[0003] In addition, at present, the diagnosis of rare diseases in China is mainly concentrated in a very small number of hospitals in first-tier big cities, and patients with rare diseases are distributed all over the country. It has been shown that the average diagnosis time for a rare disease patient is 3 to 5 years, and in extreme cases it may take more than 10 years to be diagnosed, which often delays the best time for treatment and causes huge economic and mental burdens on patients and their families

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