Seminar on Genetic Counseling and Artificial Intelligence Big Model Launch in Yangtze River Delta by ChatGC

Recently, the Yangtze River Delta Genetic Counseling Artificial Intelligence Model Symposium and the first "genetic counseling" large language model ChatGC was successfully launched in Suzhou Biomedical Industrial Park. Academician He Lin of Shanghai Jiao Tong University attended and delivered an opening speech, deputy director of the Park Science and Innovation Commission Yang Xiaobo, vice president of the Park Biomedical Industry Development Co., Ltd. Wang Xie, director of the Park Public Health and Health Management Department Zhou Qun, director of the Park Science and Innovation Commission Digital Innovation Department Chen Yongcai, director of the Park Industry Department Shen Guofang, and well-known experts and scholars in the industry attended the conference.

In the conference, Academician Heling emphasized that genetics has become a global focus with the completion of the Human Genome Project. The pursuit of healthy reproduction and prolonged life by humans is closely linked to genetic counseling, which unfortunately faces challenges in China due to issues like "messy detection" and "disorderly counseling". Academician Heling vividly described the large language model of genetic counseling as "a stone with a soul", highlighting its strong language understanding and generation abilities. He believes that this model, known as ChatGC, can effectively serve clinics, promote the development of hospital departments and disciplines, and address existing industry pain points. Lastly, he expressed hope that through collaboration within the innovative community called Yangtze River Delta Genetic Counseling and Diagnosis Network, participants can truly grasp new theories and technologies to contribute towards advancing genetic counseling, genetic testing in China, and improving population health.

Under the witness of Academician He Lin and Deputy Director Yang Xiaobo, the Yangtze River Delta Genetic Counseling Artificial Intelligence Innovation Consortium was officially established. With the support of Shanghai Government and Suzhou Park Government, the Yangtze River Delta Genetic Counseling and Diagnosis Network was initiated by Academician He Lin and launched under the joint witness of eight academicians. After the establishment of the Yangtze River Delta Heritage Consulting Artificial Intelligence Innovation Consortium, relying on the platform advantages of the Yangtze River Delta Genetic counseling and diagnosis network, it will accelerate the construction of an artificial intelligence genetic counseling platform based on ChatGC large language model for the majority of medical institutions, better empower clinical and benefit patients, and push the cause of genetic counseling in China to a new height.

ChatGC is a genetic counseling dialogue system based on Transformer architecture. It constructs supervised and unsupervised data by gathering 5 billion token medical data and 750,000 genetic counseling scene Q&A pairs in the field, and applies artificial feedback reinforcement learning training strategy. The genetic counseling intelligent decision-making system with intelligent dialogue interaction, genetic knowledge interaction, scientific research network interaction and disease diagnosis interaction is built.

Opened the genetic counseling artificial intelligence dialogue interaction mode

The pathogenesis of rare diseases is complicated, the penetrance is incomplete, and the incidence is low, which makes the clinical genetic counseling difficult to be comprehensive. Based on the dialogue interaction mode, ChatGC can provide services such as knowledge question and answer, literature recommendation, disease review, and disease diagnosis in the field of genetic counseling, improving the efficiency of clinicians' outpatient service and enriching the genetic counseling program. When the pathogenicity of the mutation and related diseases carried by the patient are uncertain, relevant information can be input in the ChatGC dialogue interaction system, and the system will give a more complete explanation and relevant knowledge recommendation.

A comprehensive knowledge map of genetic counseling was established

There are many kinds of genetic diseases, and the information of diseases, phenotypes and genes is scattered and poorly correlated, which leads to complicated and time-consuming information retrieval in clinical and scientific research. ChatGC can establish associations for diseases, genes, variations and other information, and provide genetic information retrieval and association information recommendation. For example, when it is necessary to explore the mutation information of PAX3 c.784C>T, ChatGC can accurately output the related disease subtype waardenburg syndrome type 1 and display the related genes and pathogenicity literature.

A network map of genetic experts, literature and projects was constructed

ChatGC integrates a large number of scientific research books, academic results, research directions and partner information of genetic experts, which can help to quickly obtain the latest research progress, establish cooperative relationships, and assist users to better grasp the forefront of scientific research trends. For example, when you want to do in-depth research on premature ovarian failure, you can input keywords to search for experts or teams with better quality of research, articles and results in this direction, and find new ideas for clinical and scientific research.

An auxiliary diagnostic system based on facial phenotypic genetic diseases was developed

ChatGC applied deep learning and feature transfer technology to analyze the characteristic characteristics of genetic diseases based on a large number of genetic disease face data, and realized the identification and screening of 100 genetic diseases such as Wattenberg syndrome, Mobius syndrome and Noonan syndrome, with a comprehensive accuracy of 95.3%. The function has been clinically tested and verified in a number of research institutions and institutes, and will help the early screening and tertiary prevention of children's genetic diseases.

As the first large language model based on genetic counseling in China, the release of ChatGC will help clinical medical institutions complete the deep mining of genetic disease data, clinical intelligent decision-making and auxiliary diagnosis, empower clinical practice with intelligent application depth, and promote the cause of genetic counseling in China to a more standardized, more efficient and more accurate direction. At the same time, as an innovative integration model of "artificial intelligence + genetic counseling", ChatGC large language model represents an important direction for the future development of the smart medical industry. With its gradual improvement and precipitation, it is expected to give birth to the emergence of more new formats and models, and promote the upgrading and reform of the medical industry enabled by the digital economy.