Health ministry adds seven genetic diseases to embryo testing list

The health ministry said Thursday it has added seven genetic diseases to the list for which embryos or fetuses may be tested, bringing the total to 264 conditions.

The newly designated conditions include homocystinuria with megaloblastic anemia cbl type E, cartilage-hair hypoplasia, TOR1A-related dystonia, SGCE-related dystonia, DPAGT1-related congenital myasthenic syndrome, Pearson syndrome and epidermolytic palmoplantar keratoderma type 1.

The additions followed a review of conditions submitted by patients through the civil petition portal by July 15. A committee of medical and legal experts in clinical genetics, pediatrics, obstetrics and gynecology, and laboratory medicine weighs the age at which symptoms appear, the lethality and severity of the disease, and whether it can be treated or managed. Four conditions among those submitted — cases linked to hereditary tumor predisposition syndromes or cardiomyopathy — remain under further review.

Korea permits genetic testing of embryos or fetuses only for muscular dystrophy and other genetic diseases prescribed by presidential decree under the Bioethics and Safety Act. The ministry publishes the full list of eligible diseases on its website. Patients seeking to add a disease file a request through the civil petition portal with the name of the condition, the responsible gene, confirmation of the variant found in the patient, the test result, the applicant's relationship to the patient and the patient's symptoms, and the reason for the request.

"We are supporting families with a history of genetic disease so they can set aside the fear of conceiving a child with a fatal genetic condition and plan a safe birth," said Kwak Soon-heon, the ministry's director general for health and medical policy. He added that authorities are reviewing requests carefully with medical and ethics experts when it is unclear whether the genetic variant cited in an application is the cause of the disease, to protect the life rights of embryos and fetuses from excessive concern about genetic conditions.