Newborn Screening Programs

Universal newborn screening was first adopted for phenylketonuria (PKU), an inherited metabolic disorder that causes severe mental retardation unless treatment is started in the first few weeks of life (NAS). Children with this disease have few symptoms early on, but the metabolic abnormality can be detected in the first few days of life by testing either the urine or the blood. Thus, several factors converged to support the idea of early detection:

• The disease has a devastating outcome

• Treatment is highly effective in averting this outcome, but only if it is started early

• Affected children cannot be detected on the basis of symptoms in time to start effective treatment

• Screening reliably detects most affected children (NAS)

When clinicians were slow to adopt these tests in their clinical practice, in part because they were uncertain about the efficacy of treatment, advocates went to their legislators to get them to enact laws requiring PKU screening (AAP; Clayton; NAS).

In the two decades that followed the enactment of these initial laws, the diseases that were added to the testing panels generally had similar characteristics. Congenital hypothyroidism requires early treatment to prevent severe retardation, and it frequently is not detected clinically during the newborn period. The risk of overwhelming bacterial infection faced by young children with sickle-cell disease can be greatly reduced by giving prophylactic penicillin. Children with galactosemia are often critically ill by the time the condition is detected on the basis of their symptoms, an outcome that can be averted by using a formula that does not contain lactose (milk sugar). Typically, programs were expanded to these and other disorders in response to a combination of mounting medical evidence and political pressure by families and clinicians.

Pressure to expand the number of disorders being screened for expanded dramatically during the 1990s, largely as a result of the development of tandem mass spectrometry ("MS/MS") (AAP). This technology permits the detection of a large number of metabolic abnormalities on a single specimen of blood. Unfortunately, no treatment exists for many of the disorders detectable by MS/MS, which raises issues of whether to test for these abnormalities, and of what to tell families whose children may have one of the untreatable diseases.

Until recently, most state statutes focused on identifying affected children. Most state programs tried to ensure that these children were directed to appropriate sources of care, but few actually ensured the availability of needed medications and diets. Since children do not have universal access to healthcare, some children received no treatment, and some parents suffered job lock. Increasingly, states, practitioners, and clinicians have begun to work together to develop systems to ensure the delivery of care for these children (AAP), a laudable goal which is threatened by the increasing pressure to privatize newborn screening.

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