Seven additional genetic tests for embryos or fetuses will be added.

The Ministry of Health and Welfare announced on Thursday that it has selected seven additional genetic disorders for which embryo or fetal genetic testing is possible, bringing the total number of genetic disorders to 237. The ministry has posted this list on its website.

The seven newly selected diseases are: squalene synthase deficiency, Gorlin syndrome, branchio-oculo-facial syndrome (BOFS), autosomal recessive microcephaly with chorioretinopathy, restrictive dermopathy, IPEX syndrome, and TERT-associated congenital keratopathy.

Genetic diseases eligible for embryo or fetal genetic testing are selected through a comprehensive review by an expert committee. This review examines factors such as the age of symptom onset, lethality, and severity, as well as treatment and management options for diseases requested for review by patients.

The diseases newly selected this time were reviewed from those submitted by June 15. Among the submitted diseases, Charcot-Marie-Tooth disease and  Chromosome Xq28 duplication syndrome were not newly selected as they were already included in the existing list of testable genetic diseases.

“We are adding new genetic diseases eligible for embryo or fetal genetic testing every quarter. This aims to alleviate the anxiety that families with genetic diseases may conceive a child with a lethal genetic disorder and to support prospective parents in planning for a safe birth,” Public Health Policy Officer Jeong Tong-ryong said.

Jeong continued, “For diseases requested for review, we are carefully evaluating them with experts. This is necessary to protect the right to life of embryos or fetuses from excessive concerns about genetic disorders, particularly in cases where early diagnosis and appropriate treatment and management are possible, or when it is unclear whether the genetic mutation stated in the application is the cause of the disease.”