Fujitsu Limited and Kyoto University research group have established an AI verification system called “MGeND Intelligence” led by Professor Yasushi Okuno of the Kyoto University Graduate School of Medicine. .
When the genetic mutation information of a patient is input into this system, its ability to cause disease is estimated by pathogenicity estimation AI using machine learning technology and the explanatory text of the basis of this finding is generated and displayed together with the estimated result by the explainable AI.
This explanation offers a useful reference to doctors who are considering a treatment plan or genomic medical researchers.
The system draws from the “Integrated Database of Clinical and Genomic Information program”, managed by the Japan Agency for Medical Research and Development, and from April 2021, Kyoto University plans to offer MGeND Intelligence to joint researchers and institutions.
Working with the Integrated Database of Clinical and Genomic Information, “MGeND,” which was made public by Kyoto University in 2018, Fujitsu supports the research and clinical interpretation of genetic mutations, including mutations with unknown pathogenicity, by medical professionals and researchers.
However, only a small percentage of the vast number of possible genetic mutations have been linked to disease. Genetic mutations with unknown pathogenicity present a challenge in that they do not provide useful information for treating disease.
Since November 2016, Fujitsu and Kyoto University have been participating in the Integrated Database of Clinical and Genomic Information Program promoted by the Japan Agency for Medical Research and Development, engaging in research and development to support the work of medical professionals and researchers in examining genetic mutations with AI and machine learning technologies.
Fujitsu and Kyoto University have now developed an AI system that can estimate the presence or absence of disease-causing potential for unknown genetic mutations and explain the basis for this finding. Kyoto University will make MGeND Intelligence available to joint researchers and collaborating institutions.
Fujitsu will further enhance its explanatory functions and develop new functions to support genomic medicine in hospital information systems, mainly based on the use of electronic medical records.
Fujitsu will promote the introduction of these functions in hospitals and medical institutions throughout Japan.