Yu Po-tsun of the DOH's Bureau of Health Promotion and Protection says that the DOH currently provides screening for five of the more commonly occurring rare disorders for which both tests and treatments are available: congenital hypothyroidism (CHT), PKU, galactosemia, glucose-6-phosphate dehydrogenase deficiency (G-6-PD deficiency) and homocystinuria (HCU).
衛生署保健處專員游伯村指出，衛生署經過評估，目前針對有篩檢、治療方法和發生率較高的先天性甲狀腺低能、苯酮尿症、半乳糖血症、蠶豆症、高胱胺酸尿症等五種罕見疾病進行篩檢。