[Current Status and Challenges of Emerging Genetic Medicine for Rare Diseases: Focus on PGT-M]

Many monogenic disorders do not yet have sufficiently established curative treatments, requiring affected individuals and their families to engage in ongoing decision-making regarding pregnancy and long-term life planning. In reproductive and perinatal medicine, preimplantation genetic testing for monogenic disorders (PGT-M) and prenatal genetic testing represent important options; however, advances in therapeutic interventions and the identification of novel genetic variants have made assessments of disease severity increasingly challenging. In Japan, the Japan Society of Obstetrics and Gynecology has conducted case-by-case reviews of PGT-M applications, yet the appropriateness of the current framework continues to be discussed. Establishing a continuous genetic care system supported by multidisciplinary collaboration is therefore essential.