Impact of expanded newborn screening in the US

29 September 2008

A new paper profiled in the Genomics & Health Weekly Update from the National Office of Public Health Genomics, and published in the CDC’s Mortality and Morbidity Weekly Report reports on the impact of the expanded newborn screening programme in the US. Screening newborns for a much larger panel of different disorders became feasible due to the advent of advanced tandem mass spectrometry (MS/MS). In 2005 the US Department of Health and Human Services’ Maternal and Child Health Bureau (MCHB) commissioned the American College of Medical Genetics (ACMG) to make recommendations about expanded newborn screening, and a panel of 29 ‘core’disorders was proposed (see previous news). The Federal Advisory Committee on Heritable Disorders in Newborns and Children endorsed this panel, and most US states began to implement the expanded newborn screening from 2006.

The new paper, Impact of Expanded Newborn Screening - United States, 2006, reports that if all 50 states had implemented the ACGM panel as recommended (as opposed to fewer than half in practice), the number of children diagnosed in 2006 would have risen by 32% from 4370 to 6439, based on 2001-2006 data from states with well-established MS/MS screening programmes. It notes that these children “would have had many rare disorders that require local or regional capacity to deliver expertise in screening, diagnosis, and management”, and emphasises the need for public health and health-care delivery systems to build or expand facilities for the clinical management of these rare disorders.

An editorial accompanying the report notes that the increase in cases would be largely due to the increased detection of rare disorders (since all states already screened for the more common conditions such as the haemoglobinopathies), saying that this “underscores the dual challenge of continuing the screening program for the more common disorders while also building the expertise and resources to manage the many rare disorders”. It proposes that ongoing surveillance and evaluation of the diagnosis of affected newborns and their longer-term health outcomes is required to develop better management protocols, noting that provision of screening and follow-up for the rarer disorders remains a challenge.

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