The Lure of Treatment: Expanded Newborn Screening and the Curious Case of Histidinemia

In the last decade, universal newborn screening (NBS) has entered a new era of promise and controversy. With the use of tandem mass spectroscopy, states have substantially increased the number of conditions included in mandatory NBS programs.¹  This expansion has mostly followed recommendations from an expert panel commissioned by the Maternal and Child Health Bureau, which proposed mandated screening for a core panel of 29 conditions and suggested that 25 additional conditions be reported to families, although accepted treatments are not yet available.²  The President's Council on Bioethics³  criticized the recommendations, arguing that mandated NBS should be restricted to conditions that adhere closely to Wilson and Jungner's traditional principles for screening,⁴  especially the availability of treatment that is accepted as effective and accessible to patients. Others have countered that exclusive focus on treatment of the infant ignores other potential benefit to families and society and that...