Pre-pregnancy carrier screening genetic counseling system based on large language model

The preconception carrier screening genetic counseling system using a large-scale language model solves the problems of limited gene coverage and low efficiency of genetic counseling in existing technologies. It enables accurate genetic disease risk assessment and personalized advice, reduces the birth rate of children with genetic diseases, and improves the efficiency and user experience of preconception screening.

CN121034403AActive Publication Date: 2025-11-28RENJI HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
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Patent Information

Application Number
CN202511568085.8
Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
Filing Date
2025-10-30
Publication Date
2025-11-28
Estimated Expiration
2045-10-30

AI Technical Summary

Technical Problem

Existing preconception carrier screening products have limited gene coverage, insufficient genetic counseling resources, and low efficiency. They also lack efficient detection capabilities for variants specific to the Chinese population.

Method used

A genetic counseling system for preconception carrier screening based on a large language model is adopted. Through a variant acquisition module, a variant retrieval module, a reasoning analysis module, and a multi-turn dialogue module, combined with a high-frequency variant gene database, a semantic vector index database, and a genetic counseling reasoning chain, an automated genetic counseling process is realized, providing accurate genetic disease risk assessment and personalized advice.

Benefits of technology

It has improved the efficiency and accuracy of genetic counseling, reduced the human burden, provided transparent explanations of genetic counseling, lowered the birth rate of children with genetic diseases, identified health risks in advance and provided early warnings, and enhanced the user service experience.

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Abstract

The invention provides a pre-pregnancy carrier screening genetic counseling system based on a large language model, which is applied to the technical field of gene sequencing analysis, and comprises a variation acquisition module used for screening to-be-sequenced gene data of a user to obtain pathogenic abnormality site information, converting pathogenic abnormality site information, disease clinical phenotypes, family history and individual past history into high-dimensional vectors; the variation retrieval module is used for dynamically retrieving the high-dimensional vector and recalling Top-K medical data in the semantic vector index database based on the semantic vector index database; the inference analysis module is used for evaluating the fertility genetic variation risk according to the Top-K related medical data and the high-dimensional vector to obtain an evaluation result; and the multi-round dialogue module enables the user to obtain an evaluation result through multi-round dialogues. The method has the advantages that the content such as fertility risks and intervention suggestions can be automatically generated, dialogue interaction with the patient can be carried out, and therefore the clinical genetic consultation burden is relieved.
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