TABLE 1 Genetic Disorders for Which Newborns Were Screened in the United States in 1990

Disorder

No. of States That Provided Screeninga

Phenylketonuria

52

Congenital hypothyroidismb

52

Hemoglobinopathy

42c

Galactosemia

38

Maple syrup urine disorder

22

Homocysteinuria

21

Biotinidase deficiency

14

Adrenal hyperplasia

8

Tyrosinemia

5

Cystic fibrosis

3d

a Includes District of Columbia, Puerto Rico, and U.S. Virgin Islands.

b Only a proportion of cases have a genetic etiology.

c Utah's hemoglobinopathy pilot study (6-1-90 through 3-31-91) has been discontinued.

d Wisconsin's cystic fibrosis screening program is for research purposes only.

SOURCE: Council of Regional Networks for Genetic Services, 1992.

variety of disorders in the future. As basic principles to govern newborn screening, the committee recommends that such screening take place only when (1) there is a clear indication of benefit to the newborn, (2) a system is in place to confirm the diagnosis, and (3) treatment and follow-up are available for affected newborns. In addition, the committee does not believe that newborns should be screened using multiplex testing for many disorders at one time unless all of the disorders meet the principles described by the committee in this report (see Chapters 2 and 8).

To determine clear benefit to the newborn, well-designed and peer-reviewed pilot studies are required to demonstrate the safety and effectiveness of the proposed screening program. In pilot studies for new population-based newborn screening programs, parents should be informed of the investigational nature of the test and have the opportunity to consent to the participation of their infant. Since some existing programs may not have been subject to careful evaluation, the committee recommends that ongoing programs be reviewed periodically, preferably by an independent body that is authorized to add, eliminate, or modify existing programs (see Chapters 1, 3, and 9). The need for ongoing review and revision also suggests that detailed statutory requirements for specific tests may be unduly inflexible; state statutes should provide guidance for standards—not prescriptions. The committee recommends that states with newborn screening programs for treatable disorders also have programs



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