Bioethical considerations in neonatal screening: Japanese experiences

Since 1979, at least 13,000 affected babies have been identified with one of the tested diseases. The outcome for patients is generally favorable if adequate treatment is given. Recently, ethical issues have arisen concerning whether or not written informed consent should be required, under what conditions the residual blood spot may be used for research purposes other than that originally designed, and whether or not the test is cost-effective. Mandatory screening seems acceptable under certain conditions, but parental education and opportunity for refusal should be part of the system. Refusal should be documented only after an attempt has been made to persuade parents to consent. Informed consent is necessary if there is uncertainty about the test's benefit to the child. Parents should be informed of the potential research value of the samples and assured that research results will not be linked to any particular/individual newborn. If identified or coded blood spots are used for research, IRB review and approval by IRB must occur. The net health care benefit from screening for six disorders in Japan was 0.25 billion yen ($2.2 million) per 100,000 screened newborns compared to $3.2 million for PKU and CH in the US for 100,000 screened newborns.