EMBARGOED FOR RELEASE:
Tuesday, November 18, 2003
For Further Information:
For Susan E. Waisbren, Ph.D., call Susan Craig, CHB, at 617-355-6420
For editorial author Neil A. Holtzman, M.D., M.P.H., call Tim Parsons at 410-955-7619
Newborn Screening for Certain Genetic Disorders has Benefits and Some Drawbacks
Study finds education needed for parents, clinicians
CHICAGO - Expanded newborn screening for biochemical genetic disorders may lead to improved health outcomes for affected children and lower stress for their parents, however, false-positive screening results may place families at risk of increased stress, according to a study in the November 19 issue of The Journal of American Medical Association (JAMA).
According to background information in the article, routine newborn screening is required practice for the newborn care throughout the United States. Traditionally, testing for various disorders required a separate test, but now with a measuring g device called the tandem mass spectrometry, biochemical genetic screening of up to 20 disorders can be performed from only one blood sample from the newborn. To date 24 states have started this expanded newborn screening using tandem mass spectrometry. Four states have not yet implemented mandated programs and four states offer non-mandated expanded screening.
In this study, Susan E. Waisbren, Ph.D., psychologist for the Metabolism Program at Children's Hospital Boston, and colleagues compared newborn identification by expanded screening with clinical identification of biochemical genetic disorders. The researchers also assessed the impact on families of a false-positive screening result compared with a normal result. False-positive results are defined by the researchers as initial out-of-range screening results that do not signify a metabolic disorder on further evaluation of the child.
The sample included families of 50 affected children identified through expanded newborn screening and 33 affected children identified clinically. In addition, families of 94 children found to have false-positive newborn screening results and 81 children having normal newborn screening results were enrolled. A total of 254 mothers and 153 fathers were interviewed.
''Within the first six months of life, 18 percent of children identified by newborn screening compared with 55 percent of clinically identified children required hospitalization,'' the researchers report. ''One child identified by newborn screening compared with eight (42 percent) identified clinically performed in the range of mental retardation. Mothers in the screened group reported lower overall stress on the Parental Stress Index than mothers in the clinically identified group.'' The researchers also found that children with false-positive results compared with children with normal results were twice as likely to be hospitalized (21 percent vs. 10 percent). Mothers of children in the false-positive group compared with mothers of children with normal screening results had higher scores on the Parental Stress Index and the Parent Child Dysfunction subscale.
In conclusion the authors write:...this study highlights some of the challenges to current newborn screening practices. It demonstrates a need for education about newborn screening for parents prior to the birth of their child. Education about these rare and complex metabolic disorders also is needed for primary care physicians and other health care professionals, especially since face-to-face discussions with these professionals appear to reduce parental stress. Genetic counselors, rarely consulted, also may provide valuable reproductive counseling information. Basic concepts such as carrier status and the meaning of a false-positive finding would be helpful for parents of all children who have a positive screening result.'' (JAMA. 2003;290:2564-2572. Available at JAMA.com.)
Editor's note: Please see JAMA study for funding information.
Children's Hospital Boston is home to the world's largest research enterprise based at a pediatric medical center, where its discoveries have benefited both children and adults for more than 130 years. More than 500 scientists, including seven members of the National Academy of Sciences, nine members of the Institute of Medicine and nine members of the Howard Hughes Medical Institute comprise Children's research community. Founded in 1869 as a 20-bed hospital for children, Children's Hospital Boston today is a 300-bed comprehensive center for pediatric and adolescent health care grou'ded in the values of excellence in patient care and sensitivity to the complex needs and diversity of children and families. It is also the primary pediatric teaching affiliate of Harvard Medical School. For more information about the hospital visit: www.childrenshospital.org.