Efforts to standardize newborn screening for metabolic disorders are underway in the U.S. Proponents hope to remove discrepancies in the number of screening tests newborns undergo, which currently ranges from as few as 4 to more than 30 depending on the state in which the baby is born. These screening tests can help identify certain rare but debilitating and potentially life-threatening illnesses that can be treated more successfully if detected early.

The U.S. Department of Health and Human Services (HHS) heard new recommendations at the September 22-23, 2004 meeting of its Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. The recommendations, developed by the committee based on research conducted by the American College of Medical Genetics, urge all states to screen newborns for 30 specific genetic disorders. These conditions are serious but can easily be detected through screening tests (performed on the same dried blood sample taken at birth for current screening tests) and have treatments available. Twenty-five additional diseases were noted by the committee but were not included in the recommendations because, although there are screening tests, there are no effective treatments for them.

Although there is expected to be a great deal of public support from organizations like the March of Dimes and the American Academy of Pediatrics, HHS does not have the legal authority to make states follow these recommendations. Ultimately, it will be up to each state to decide which tests will be offered. This decision at least in part will depend upon budgetary issues, including the expense of testing equipment and the availability of skilled personnel.

Parents will need to educate themselves on those tests done in their state and laboratories where supplemental testing is performed if they wish to have their newborn screened for additional disorders. With this comes the responsibility of understanding the limitations of newborn screening and especially of the inherently elevated risk of false positive results, which can create emotional stress for a newborn’s family. A false positive screen can cause increased medical expenses and unnecessary interventions on the baby (see How Reliable is Laboratory Testing).

For more information on what tests your state offers and where to go for supplemental testing, visit the National Newborn Screening & Genetics Resource Center at http://genes-r-us.uthscsa.edu/nbsdisorders.pdf and http://genes-r-us.uthscsa.edu/resources/newborn/commercial.htm.

Sources
Genome News Network: Panel Urges States to Screen Newborns for 30 Disorders, October 1, 2004
March of Dimes Statement on Newborn Screening Report, September 22, 2004
Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children: Notice of Meeting