Clinical Genomics
- Clinical research on preimplantation genetic testing (PGT-A) to evaluate the chromosome aneuploidy in embryos
- Clinical research on products of conception by next-generation sequencing (POC-NGS)
- Research on non-invasive prenatal genetic testing (ni-PGT-A) to evaluate the chromosome aneuploidy in embryos
- Development of technology to implement clinical sequencing in the society
- Development and evaluation of novel testing methods that apply clinical sequence technologies to the field of reproductive medicine
Deployment of Research to Apply the Latest Knowledge on Genomic Science to the Clinical Field of Reproductive Medicine
Genomic science has remarkably progressed since 2000. Particularly, after the emergence of next generation sequencing (NGS), chromosomal/genetic abnormalities of various diseases have been identified in succession. Treating patients according to their constitution or the characteristics of diseases based on pre-treatment genetic testing etc. is called precision medicine, which has become feasible by virtue of the advancement of clinical sequencing (new testing methods that comprehensively analyze genomic information of patients or disease-related genes by NGS and cross-check the results of detected genetic changes with the latest clinical evidence to help the diagnosis of diseases or selection of treatment strategies).
During the course between the establishment of pregnancy and the delivery, various tests are performed because the chromosomes/genes of fertilized eggs and gestational tissues are considered important. These various tests includes, for instance, preimplantation genetic testing for aneuploidy (PGT-A) to investigate the aneuploidy of all chromosomes in the fertilized egg (embryo) that is implanted in the uterus during assisted reproductive technology (ART) and testing on products of conception using NGS (POC-NGS) to investigate the cause of miscarriage/stillbirth with the use of NGS. Osaka University has been conducting clinical research to verify the benefit of the above tests. Furthermore, the university has also been conducting research on non-invasive preimplantation genetic testing (niPGT) that analyzes samples associated with embryos without embryo biopsy to avoid the risk of embryo injury that rarely occurs during PGT-A, developing methods to diagnose the cause of miscarriage in a non-invasive manner, and exploring genes related to infertility/recurrent pregnancy loss using the next-generation sequencing. We believe that such tests will provide information that helps us select treatment according to the fertility of individual patients and will lead to precision medicine.
This study is expected to improve the rate of pregnancy by treatment that applies genomic information. Especially in the aging society, it is important that couples with desire to have children are able to achieve pregnancy/delivery. We wish that our tests will serve as the basis of next-generation society.
