Newborn Screening for Fragile X Syndrome: Do We Care What Parents Think?

The Scottish philosopher David Hume famously observed that moral arguments cannot move directly from describing what “is” to concluding what “ought” to be done. That is, we must include assumptions or arguments between our observations of fact and our conclusions about how we should respond. In this issue of Pediatrics , Skinner et al1 describe the response of new parents to offers of newborn screening (NBS) for fragile X syndrome (FXS). They found that a majority of new parents (63%) consented to the screening of their child for this condition. An important aspect of this research is that it entailed actual choices about screening, not hypothetical scenarios, and their broader research agenda included a careful assessment of how parents and the children were affected by this information. So, although the project has provided valid information on parental choices in this screening opportunity, a larger question is whether we should care what parents think. As Skinner et al note, FXS has been under consideration for a number of years as a potential addition to the panel of conditions targeted by state NBS programs. FXS was not included on the uniform panel recommended by the American College of Medical Genetics (ACMG) in 2005.2 At that time, the condition did not meet criteria for the test, and there was uncertainty about the benefits to children from early identification. However, the ACMG noted the potential benefits … Address correspondence to Jeffrey R. Botkin, MD, MPH, Department of Pediatrics, School of Medicine, University of Utah, 50 N Medical Dr, Room 1C375, Salt Lake City, UT 84132. E-mail: jeffrey.botkin{at}hsc.utah.edu