"Conducting genetic testing on family members and related families when a baby is found to be a carrier from a newborn screening test can identify more individuals with carriers. For rare diseases, such as Gaucher's disease, early diagnosis improves the patient's quality of life and saves the societal cost."

Starting this year, the items for the newborn screening test, which is conducted in newborns within 48-72 hours of birth regardless of any symptoms shown, has expanded. As a result, early diagnosis of rare diseases is more likely.

For example, reimbursable items now include Lysosome storage disorder (LSD). Many hope that circumstances surrounding the treatment of diseases with a 'diagnos