Progress in expansion of newborn screening in the US

27 February 2009

A new report from the March of Dimes says that almost all newborns in the US now receive recommended newborn screening for serious genetic diseases; in previous years there has been major variation in practice across different states, so that the geographical location at which a child was born had a significant influence over which conditions they would be screened for. All 50 states and the District of Columbia reportedly now require that newborns are screened for at least 21 of the 29 ‘core’ genetic diseases on the panel recommended by the American College of Medical Genetics (see previous news), although Pennsylvania and West Virginia had still to implement their newly expanded screening programmes as of the end of December 2008. 

Screening for a larger number of diseases has become possible in recent years due to the development of a technique called advanced tandem mass spectrometry (MS/MS). Early identification of babies affected by metabolic and other disorders can allow prompt treatment to minimize or even avert the effects of disease. Implementation of the expanded ACMG panel of 29 disorders began in 2006, although it has been noted that clinical management of rare disorders identified via expanded newborn screening programmes can pose a problem (see previous news). Not only is appropriate clinical expertise required, but in some cases the only effective interventions are extremely expensive.

In general, expansion of newborn screening programmes can allow early detection and treatment of serious diseases; however, in some cases diagnosis is possible for disorders for which there are as yet no effective treatments, and inclusion of such diseases in newborn screening panels is more controversial, with practice varying around the world. There is also debate over whether early diagnosis confers genuine clinical benefit for some conditions (see previous news).

Referring to the latest findings and commending the increasing equity of access to expanded newborn screening, March of Dimes president Dr Jennifer Howse commented: “With the help of volunteers, parents and our partners, we have nearly erased the cruel injustice that sentenced babies to an undetected but treatable metabolic or functional condition based on their birth state.  This is a success story” (see press release).

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