Seoul National University Hospital Holds 25th Anniversary Symposium on 'Preimplantation Genetic Testing' to Prevent Inheritance of Rare Genetic Diseases

"A New Horizon in the Diagnosis and Prevention of Rare Genetic Diseases"
Sharing 25 Years of Clinical Achievements

"Even while experiencing the joy of raising our first child, I was always cautious about becoming pregnant again out of concern that the same disease might affect a second child." After spending a long period trying to identify the exact disease, a couple in their 30s, who carry a rare hereditary disorder, visited Seoul National University Hospital. Recently, they welcomed a healthy second child through 'preimplantation genetic testing for monogenic disorders (PGT-M),' a procedure aimed at preventing the inheritance of specific genetic conditions. The clinical achievements of the past 25 years, which have provided families concerned about the possibility of genetic disorders in subsequent children with opportunities for safer deliveries, were recently released.

Stakeholders are taking a commemorative photo at Seoul National University Hospital's '25th Anniversary Symposium on Preimplantation Genetic Testing (PGT).' Seoul National University Hospital

Seoul National University Hospital announced that it held the "25th Anniversary Symposium of Preimplantation Genetic Testing (PGT)" on July 13 at the Deokbyeong Yoon Hall of the Biomedical Research Institute. Jointly organized by the Departments of Obstetrics and Gynecology, Laboratory Medicine, and Clinical Genomic Medicine, the event reflected on the progress made in supporting healthy pregnancies for families with rare genetic diseases and discussed the future direction of next-generation precision medicine.

Preimplantation genetic testing (PGT) is a procedure used to detect genetic abnormalities in embryos. In particular, the PGT-M received by the aforementioned couple is a reproductive medicine test in which only healthy embryos are selected and implanted to lower the risk of recurrence in families with rare genetic disorders. In the midst of the ongoing low birthrate crisis, this precision medicine technology is gaining importance—not just as a means to increase birthrates, but as a way to help families with rare hereditary conditions feel secure about having children.

The symposium, held under the theme "A New Horizon in Diagnosis and Prevention of Rare Genetic Diseases," shared multidisciplinary efforts and a vast array of clinical data. The first session emphasized that PGT-M is a "personalized precision test"—not a one-size-fits-all product—requiring new design and validation for each patient family, and addressed practical issues in establishing and operating testing laboratories.

In the second session, the results of an analysis of 378 cases of PGT-M clinical data—a notably large number for a single institution—were released. Participants discussed pragmatic embryo selection strategies. They also stressed that confirmatory prenatal diagnosis methods such as chorionic villus sampling or amniocentesis are essential even after a successful pregnancy, in order to offset the technical limitations of analyzing a small number of cells.

In particular, a new approach was introduced to overcome current technical barriers in testing for "de novo mutations"—mutations found in children but not in their parents—by applying "long-read sequencing," which directly reads long DNA molecules, to clinical practice. This allows for the accurate identification of the genetic arrangement of mutations.

Seoul National University Hospital plans to further expand its "multidisciplinary clinical care system," which integrates genetic diagnosis by the Department of Clinical Genomic Medicine, customized test design by the Department of Laboratory Medicine, and embryo creation and prenatal management by the Department of Obstetrics and Gynecology. By doing so, the hospital aims to support healthy pregnancies and deliveries for families with rare genetic disorders, address unmet medical needs, advance the domestic field of PGT-M, and enhance international competitiveness.

Director Baek stated, "Preimplantation genetic testing is a vital precision medicine technology that enables families with rare hereditary diseases to prepare for a healthy next generation. Building on 25 years of multidisciplinary collaboration, Seoul National University Hospital will continue to lead in the diagnosis and prevention of rare genetic diseases and fulfill its role as the nation’s central hospital."

Professor Chae Jonghee, head of the Department of Clinical Genomic Medicine, added, "From accurate genetic diagnosis and genetic counseling to preimplantation genetic testing and ensuring healthy delivery, we have worked hand-in-hand with patient families throughout the entire process. Moving forward, we will pioneer new paths in preventing rare genetic diseases and share our accumulated experience with regional healthcare institutions as we continue to grow together."

This content was produced with the assistance of AI translation services.