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Newborn screening resources.

Technological advances in recent years have made it possible for newborn infants in the United States to be screened for more than two dozen conditions.

The first genetic screen for newborns was a simple, reliable test for phenylketonuria (PKU), an inherited neurodevelopmental disorder that could result in mental retardation, brain damage, and seizures, if left untreated. This inexpensive assay of a dried blood sample taken from a newborn facilitates early detection of the condition and its highly effective treatment using a special diet. Today, 40 years after the first use of this genetic screen, the test is administered in newborns in all 50 states.

The key technology in present-day screening for newborns is tandem mass spectrometry (MS/MS), which uses a multiplex approach in identifying a range of serious conditions from the same type of dried blood spots used in PKU screening. Given that the effectiveness of the many new treatments now available for rare genetic diseases often depends on a disease being detected as early as possible, there has been a brisk expansion in newborn screening in the United States.

These tests, known as newborn screening panels, have been developed by individual states using different selection criteria, which have led to substantial variation in both the numbers and types of conditions screened for in various states.

It was against this background that the Health Resources and Services Administration, a branch of the U.S. Department of Health and Human Services, awarded a contract to the American College of Medical Genetics (ACMG) to recommend a uniform panel for newborn screening that would be suitable for all states.

The ACMG convened a large number of geneticists, metabolic experts, physicians, lawyers, family members, ethicists, and others over a 2-year period, and finally recommended 29 core conditions that should be included in all state newborn screening panels. The recommendations were supported by the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children, which was mandated by Congress to advise Michael O. Leavitt, the Secretary of Health and Human Services, regarding newborn screening.

Currently, more than 90% of newborns in the United States receive this expanded panel of almost 30 conditions, and several organizations are working toward having it adopted in all 50 states.

Dealing with this large group of individually rare conditions presents an enormous challenge for the primary care physician. The ACMG and its partners have teamed up to create excellent online resources to help front-line providers deal with positive screening results should they arise.

A particularly useful resource is the Newborn Screening ACT Sheets and Confirmatory Algorithms (www.acmg. net / resources / policies / ACT / conditionanalyte-links.htm). Each one-page sheet describes one of the conditions on the recommended screening panel, as well as the laboratory diagnostic findings for that condition, the immediate clinical findings and treatments, and, most important, recommendations for immediate action if required. Each sheet also provides in-depth and highly reviewed sources of additional information.

Another source is the National Newborn Screening and Genetics Resource Center (, which lists the conditions each state currently screens for; it is updated constantly. It also includes the contact information of the state laboratories and the name of the person responsible for follow-up of abnormal results in each state.

About 1 in 500 babies is diagnosed with one of the conditions on the newborn screening panel most commonly used today, and this number will increase commensurate with the increase in the size of screening panels. This means that most primary care physicians likely will encounter abnormal newborn screening results at some point in their career. Fortunately, there are tools to support providers in dealing with this complex aspect of their practice.

Although these conditions are often rare, and at times the treatments are complex and even costly, the life-saving benefits of newborn screening make it one of our most successful public health programs.

DR. FEERO is chief of the genomic healthcare branch at the National Human Genome Research Institute of the NIH.

DR. HOWELL is a pediatrician, medical geneticist, and professor of pediatrics at the University of Miami.

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Author:Feero, Greg; Howell, R. Rodney
Publication:Pediatric News
Date:Apr 1, 2009
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