Hastings Center Rep.: Ethics, Evidence, and Cost in Newborn Screening.
Author | Baily, Mary Ann |
Position | Reprint |
In the United States, state-based public health programs screen all infants shortly after birth for selected conditions that can have serious health consequences if not identified and treated very early in life. All states have newborn screening systems that provide initial screening and follow-up services, which may include diagnostic services, short- and long-term treatment and management, parent education, and program evaluation. Since state governments make the decisions about program structure and content, the systems vary along many dimensions. For example, all fifty states and the District of Columbia test for PKU, sickle cell disease, congenital hypothyroidism, and galactosemia, but they vary in the selection of additional conditions. States have also made different decisions about the content of treatment protocols, the services available for follow-up, and the extent to which the cost of the system falls on families of the newborns screened. All but a few states make screening mandatory and do not obtain parental informed consent. A number of these states give parents some freedom to opt out, but that freedom is rarely exercised: many parents do not even realize that they have it.
The heel-stick blood sample is used to screen for all newborn disorders except hearing impairment. In the past, when a program added a new condition, it added a new laboratory blood test. In the 1990s, a new screening technology, tandem mass spectrometry, became available. It can test for PKU, MCADD, and a number of other disorders simultaneously. Tandem mass spectrometry measures levels of various metabolites in the blood, and abnormalities suggest the presence of metabolic disorders. Advocates have pressed states to invest in the new technology; a federally funded expert group has recommended that all states adopt a uniform list of conditions, including many disorders detectable with the new technology; and the uniform list has been endorsed by key public and private entities involved in newborn screening. A major expansion of...
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